Character istic Ss Causes and P a

Autism pen
Disorder, |
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 TABLE OF CONTENTS

Preface Vii
About the Author

Part I What is Autism?

1 Historical Background
Current Concept and Definition
The Fuller Picture: Shared Characteristics
The Fuller Picture: Sources of Diversity
b&b
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W
N Facts and Figures: Epidemiology and Lifespan Development

Part If What Causes Autism?

6 A Framework for Explaining Autism
7 Root Causes 101
8 Brain Bases
9 Proximal Causes 1: Diagnostic Behaviours 139
10 Proximal Causes 2: Additional Shared Characteristics
and Major Specifiers 165

PART III Practical Issues 185

11 Assessment, Diagnosis and Screening 187

12 Intervention 209

13 Care aad,

Appendix: Assignments 263

Glossary Lo
References ‘ 305
Index 345
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 PREFACE

My main aim in writing this book is to provide an account of autism that people
with little or no specialist knowledge will find comprehensible and digestible, but
which at the same time offers more advanced readers a clear summary of existing
knowledge with pointers to more detailed reading. In brief, the book is intended as
both an introduction and a source. I have tried to keep in mind trainee practition-
ers, whether careworkers or classroom assistants, teachers, therapists, psychologists,
social workers, nurses or doctors whose practice involves working with people
with autistic spectrum disorder (ASD) and/or their families; also undergraduate
and graduate students who need a crib before embarking on more detailed and
specialised reading relevant to their essay, dissertation or thesis. I should like to
think that some parents whose child has just received a diagnosis of autism might
find ‘dipping and skimming’ this book answers some of their immediate questions.
I also wanted to write an account that was as impartial as I could make it. There
are many books that present an author’s particular ‘take’ on autism, and these can
contribute greatly to advanced discussion of the nature, causes, treatment, etc.
of autism. However, they do not make good starting points, and — unless several
such books are read — they can leave the reader with an incomplete or biased
understanding.
There are some other underlying principles or themes that may make the book
a little different from some others. In particular, I try to put current views into
the perspective of a continuing search for answers, in which much can be learned
from past research and much remains to be learned in the future. I try to present
research and practice as working together to make life as good as possible for
people with autism, their families and other carers, whilst accepting some differ-
ences in aims and priorities. Ihave worked both as a practitioner and as a researcher
and know that co-operation is beneficial for all concerned. Similarly, where there
is a controversy I try to present opposing evidence and arguments fairly, rather
than taking sides one way or the other. Finally, much of the illustrative material
in the book is provided by people with ASD themselves, either within disguised
descriptions or with their own or their families’ agreement. I am grateful to all
those individuals and families whose stories, drawings, etc. are included.
Preface

Two practical points. First: the book covers more material than most beginning
students will need, and lecturers/tutors should use the text selectively according
to their student group. For example, for students on some vocational courses, some
or all the chapters in Part II might be omitted. For students on non-vocational
psychology courses or undertaking postgraduate research, Part III could be made
optional reading. :
Secondly: terminology in the autism field is a sensitive issue, and preferred
terms reflect current societal trends as well as ‘where the person is coming from’,
I try to take a middle line, avoiding medical-model terms (e.g. ‘mental retarda-
tion’, ‘patient’, ‘symptom’) as far as possible, at the same time avoiding extremes
of political correctness, not least because PC terminology changes all the time.
I have always advised students to be sensitive to the preferred terminology of the
person they are talking to, and adjust their own terminology accordingly (‘When
in Rome...’). I can’t do that in a book, and am aware that the terminology I use
will not please all readers: it is a ‘no win’ situation, as concluded by Kenny et al.
(2015). Occasional footnotes are used within the main text to explain my usage
of some terms where clarification may be helpful.

viii
 ABOUT THE AUTHOR

Jill Boucher is Professor of Developmental Psychology at City, University of

London. Initially she trained and worked as a speech and language therapist.
Within a few years, however, the need to better understand the brain, and those
malfunctions of the brain that cause communication and language impairments,
led her to retrain and pursue an academic career as a neuropsychologist. After
some years spent teaching and researching at the University of Warwick, she
moved to Sheffield University to supervise an existing vocational course for
speech and language therapists. She subsequently played a critical role in devel-
oping a multidisciplinary Department of Human Communication Sciences at
Sheffield, where research and practice are equally valued and mutually beneficial.
The conviction that practitioners and researchers must work collaboratively
to improve the lives of people with ASD, and to help families and others who
support and provide for them, informs the approach taken in the present book.
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 PART I

WHAT IS AUTISM?
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HISTORICAL BACKGROUND

EARLY CASE REPORTS

Tip eikot ALTEMPTS TOIDENTIFY AUTISOMASA

DISTINCT CONDITION
Kanner’s and Asperger’s Seminal Accounts
Two Blind Alleys
Back to Kanner

THE FIRST OFFICIAL DEFINITIONS

Diagnostic and Statistical Manual (DSM) Definitions
International Classification of Diseases (ICD) Definitions

SUMMARY
What is Autism?

AIMS ©
The main aim of this chapter is to provide a context within which to set current
attempts to answer the question ‘What is autism?’ Underlying aims are: first, to
counteract the view that the past has nothing to tell us about autism, by demon-
strating that early definitions and descriptions of autism prefigure those in use
today; and secondly, to convey the fact that — in our present incomplete state of
knowledge and understanding — what is published and read about autism today
will take its place in ‘the history of autism’ tomorrow.

EARLY CASE REPORTS

‘Autism’ has almost certainly always existed in human populations. However,
autism was not recognised as a distinct condition until the mid-twentieth century.
Prior to that, less able people with autism were included within an undiffer-
entiated group of those who were described as simpletons, or imbeciles, or
feeble-minded (people were not sensitive to stigmatising language in those days).
More able people with autism — those who acquired language and did at least
reasonably well at school — were merely seen as loners and eccentrics.
A few reports of individuals whom we might now recognise as autistic survive
from as early as the eighteenth century. Notable amongst these are reports of
feral children, that is to say children who had been abandoned by their parents
but who had managed to survive in the wild. The earliest well-documented case
of a feral child is that of the ‘Wild Boy of Aveyron’, found in the late 1780s at
about the age of 12, living like an animal alone in a forest. Victor, as the boy
was named by those who rescued him, had no language, nor was he responsive
to human beings. Significantly, Victor never became responsive to other people
despite the fact that from the time of his rescue until the time that he died in
middle age he was kindly cared for, and energetic attempts were made to educate
him (Frith, 1989). Other detailed accounts of children who might nowadays be
diagnosed with autism spectrum disorder (ASD) survive from the nineteenth
century (Waltz & Shattock, 2004).

THE FIRST ATTEMPTS TO IDENTIFY

AUTISM AS A DISTINCT CONDITION

Kanner’s and Asperger’s Seminal Accounts

Autism was first identified by an American psychiatrist named Leo Kanner in a

paper published in 1943 entitled ‘Autistic disturbances of affective contact’. One
year later an Austrian medical student called Hans Asperger published a paper
 Historical Background

entitled ‘Die Autistischen Psychopathen im Kindesalter’ (‘Autistic Psychopathy

in Childhood’) (Asperger, 1944/1991). The individuals described by Kanner and
by Asperger in their separate papers differed from each other in some respects.
However, there was also considerable overlap between the descriptions, as is clear
from Box 1.1.

Box 1.1 Kanner’s and Asperger’s

early descriptions
KANNER ASPERGER
‘Early infantile autism’ ‘Childhood autistic psychopathy’
Profound lack of affective Severe impairment of social interaction, shown in odd,
{i.e. emotional] contact with inappropriate behaviour rather than aloofness and
others. indifference.
Intense resistance to change All-absorbing, narrow interests, often to the exclusion of
in routines. Fascination other activities.
with manipulating particular
Imposition of repetitive routines on self and others.
objects, but not using them
for correct function. Good grammar and vocabulary but inappropriate use of
speech.
Muteness or abnormalities of
language. A tendency to engage in monologues on special
interests.
Superior rote memory and
visual-spatial skills. Limited or inappropriate non-verbal communication.
Motor clumsiness.

‘Mischievous’ behaviour.

Kanner’s paper was immediately influential in English-speaking countries.

However, Asperger’s paper was not brought to the attention of English-speaking
researchers for nearly 40 years (Wing, 1981) and was not readily available in
English until 1991. For 40 years, therefore, answers to the question “What is
autism?’ were largely shaped in English-speaking countries by Kanner’s original
descriptions, although Asperger’s paper was influential in psychiatric circles in
parts of Europe.

Two Blind Alleys

From the 1950s onwards, more and more children were brought to the atten-
tion of practitioners on account of their socially withdrawn behaviour, delayed or
absent language, and other unusual behaviours. Kanner’s concept of ‘early child-
hood autism’ was not yet widely known about or accepted, and two groups of
puzzled professionals tried to describe and understand these children, and to fit
them into their existing categories of childhood disorder — and failed.
%
What is Autism?

Autism as a form of neurosis

Psychoanalysts and psychotherapists who were asked by desperate parents to
help their problem child concluded that autism was a form of neurosis! caused
by disturbed mother-child relationships (Mahler, 1952; Bettelheim, 1967). The
stigmatising and unjustifiable term ‘refrigerator mother’ indicates the supposed
origins of the impaired relationship.
By the 1970s, this theory had been disproved by studies showing that people
with autism have significant abnormalities of brain structure and function
(Hutt et al., 1965; Rutter et al., 1967). It was also appreciated that infants with
autism are extremely difficult to mother normally because they are socially
unresponsive. It is, after all, not easy to bond with a child who doesn’t look
at you, doesn’t smile or hold out their arms to be picked up, and who dislikes
being cuddled. Thus any disturbance of early mother-child relationship can be
traced back to the autistic infant’s odd and unrewarding behaviour rather than
the mother’s ‘coldness’.
Autism as a form of psychosis
Some medically-minded psychiatrists, on the other hand, conceived of autism as a
psychotic condition with a physical, brain-related cause (e.g. Bender, 1956). It was
mistakenly thought that the odd behaviours of young children with autism were
early manifestations of schizophrenia, and they were accordingly diagnosed as cases
of childhood schizophrenia, or childhood psychosis. These medically-minded
practitioners were very concerned with issues of definition and diagnosis, and in
the UK a committee was set up under the chairmanship of Dr Mildred Creak to
establish a set of diagnostic criteria for ‘childhood schizophrenia’. The result was
what became known as ‘Creak’s Nine Points’, listed in Box 1.2.

Box 1.2. Creak’s ‘Nine Points’

Gross and sustained impairment of emotional relationships.

Serious retardation, with islets of normal or exceptional intellectual function.
Apparent unawareness of personal identity.
Pathological preoccupation with particular objects.
Sustained resistance to change.
Abnormal response to perceptual stimuli.
Acute and illogical anxiety.
Speech absent or underdeveloped.
= Distorted motility [movement] patterns.
OANOOABRWN

(Creak, 1961: 889-890)

It worth noting that there is not one of Creak’s Nine Points that would not be
accepted today as descriptive of the problems of individuals with what is now

‘Words or phrases in bold type on first occurrence can be found in the Glossary.

6
 Historical Background

called ‘autism spectrum disorder’ (ASD), except that point 8 applies only to a pro-
portion of people with ASD. Moreover, all of the issues raised in the Nine Points
continue to be discussed by diagnosticians and researchers and will come up as
topics at various points in this book. This demonstrates the continuity between
early theorists’ attempts to define and describe autism and those of the present day.
However, the suggestion that children with autism were suffering from child-
hood schizophrenia was disproved by a study of a large group of children, all of
whom had been diagnosed as suffering from ‘childhood schizophrenia/psychosis’
(Kolvin, 1971). Kolvin found that only those children whose development was
essentially normal until the school years showed the hallucinations, delusions
and other behavioural abnormalities associated with schizophrenia. By contrast,
those children whose abnormal behaviours were apparent before the age of three
conformed to Kanner’s (1943) description of ‘early infantile autism’. Moreover,
whereas the parents of the late-onset group showed an unusually high incidence
of schizophrenia or schizoid personality disorder, this was not the case for par-
ents of children in the early-onset group. Kolvin referred to the early-onset group
as having ‘infantile psychosis’ as opposed to ‘late-onset psychosis’. From the early
1970s, therefore, the conflation of autism with childhood schizophrenia ceased.
Nevertheless, the relationship between autism and_ schizophrenia/schizoid
personality has remained a topic of interest (King & Lord, 2011).

Back to Kanner

Developments within the field of childhood disorders

These early attempts at description and definition did not take place in a vac-
uum. On the contrary, they were part of an increasing concern with children’s
mental health and educational needs which occurred during the third quarter of
the last century. And as more became known about the kinds of psychological?
and behavioural problems that can occur in childhood, it became easier to see
what autism is not.
In particular, by the mid-1970s it was not only clear that autism is not a form
of neurosis or psychosis, it was also clear that autism is not just a form of intel-
lectual disability comparable to, for example, Down syndrome; it is not the result
of inappropriate learning (which was at one time suggested — see Ferster, 1961);
it is not just the result of an exceptionally severe language-learning problem
(which was also suggested — see Rutter et al., 1971; Churchill, 1972).
Developments relating to autism
At the same time, research into autism itself burgeoned in response to the increas-
ing numbers of children being referred to child development clinics with the
kinds of behaviour described by Kanner. The first academic journal devoted to

2The term ‘psychological’ is used in this book to refer to all mental faculties, from sensation, perception and
emotional experience through to attention, learning and memory, thinking and reasoning, language and literacy,
decision-making and action. The term ‘cognitive’ is reserved for those mental faculties that subserve learning,
thinking, reasoning, etc. ‘
What is Autism?

research in this field appeared in 1971 (called ‘The Journal ofAutism and Childhood
Schizophrenia’, soon to be changed to ‘The Journal of Autism and Developmental
Disorders’, as it is known today). Publication of a specialist journal reflected widen-
ing acceptance of Kanner’s claim that autism is a condition in its own right, and sets
of proposed diagnostic criteria for autism began to appear in the English-language
literature. The most influential were those of Rutter (1968) in the UK and of Ritvo
and Freeman (1977) for the National Society for Autistic Children in the USA.
All the above developments paved the way for the first official recognition of
autism as a distinct condition, nearly 40 years after Kanner first described it — as
outlined next.

THE FIRST OFFICIAL DEFINITIONS

Successive editions of the American Psychiatric Association’s Diagnostic and
Statistical Manual of Mental Disorders and of the World Health Organisation’s
International Classification of Diseases are internationally recognised as offering
the most authoritative classification schemes and diagnostic criteria for health dis-
orders. The Diagnostic and Statistical Manual covers mental disorders only, and is
most widely used in the States. However, it is also commonly used by researchers
in other English-speaking countries who may wish to publish articles in American
journals. The International Classification of Diseases covers all forms of disease and
is used world-wide by members of the medical professions and by health policy
professionals. It is the system of choice in Europe, including the UK.
There are more similarities than differences in the classification schemes and
diagnostic criteria for autism given in these two influential publications. However,
‘autism’ was recognised earlier in editions of the Diagnostic and Statistical Manual
(DSM) than in editions of the International Classification of Diseases (ICD).
Because of its wider usage in English-speaking countries, the historical develop-
ment of formal definitions of ‘autism’ outlined below is based on definitions in
successive editions of the DSM. A short account of ICD descriptions of ‘autism’
follows the account of successive DSM definitions.

Diagnostic and Statistical Manual (DSM) Definitions

DSM-III (American Psychiatric Association (APA), 1980)

‘Infantile autism’, as it was then called, was first formally recognised as a distinct
condition in 1980, in the third edition of the Diagnostic and Statistical Manual of
Mental Disorders. The condition was defined in terms of four diagnostic criteria:

e Lack of responsiveness to others.

e Impaired language and communication skills.
e Bizarre responses to aspects of the environment.
e Early onset (prior to 30 months).
 Historical Background

_ DSM-III-R (APA, 1987)

Just one year after the first official definition of autism was published in
DSM-III, Wing (1981) published a paper on ‘Asperger’s syndrome’, which
made Asperger’s description of children with ‘autistic psychopathy’ accessible
to English-language readers for the first time. Wing’s paper was influential, not
just because Wing herself was a highly respected clinician and academic in the
field, but also because what she wrote in that paper was instantly recognised
by many clinicians and others as matching their own experience. In her paper,
Wing described individuals known to her who had the problems of social relat-
ing, communication and behavioural flexibility described by Kanner, but who
did not have significant language impairments, nor were they less intelligent
than average. Indeed, some had precociously large vocabularies and were highly
intelligent. Wing suggested that these able people should be described as having
‘Asperger’s syndrome’.
When a revised edition of DSM-III, known as DSM-III-R (APA, 1987) appeared,
Wing’s suggestion was not acted upon. However, the emphasis on impaired lan-
guage as a necessary criterion for what was now named autistic disorder was
reduced. Absent or delayed language development was mentioned in the list of
the kinds of impairments of communication that might sometimes be associated
with autism, but was no longer seen as an essential characteristic without which a
diagnosis of autism should not be made. Thus, nearly 50 years after Asperger pub-
lished his paper, people with social impairments and restricted interests, but with
normal language and learning abilities, could be diagnosed with ‘autistic disorder’.
However, a diagnosis of Asperger disorder was not officially sanctioned until the
next edition of the DSM, as outlined next.
DSM-IV (APA, 1994)
DSM-IV moved away from conceptualising autism as a single, or ‘unitary’, men-
tal health condition, albeit one encompassing an extremely broadly defined and
varied group of individuals, as in DSM-III-R. In place of a unitary concept of
autism, DSM-IV identified a set of pervasive developmental disorders (PDDs).
These were: autistic disorder, Asperger disorder, pervasive developmental dis-
order not otherwise specified (PDD-NOS), childhood disintegrative disorder,
and Rett syndrome.
Rett syndrome and childhood disintegrative disorder may be characterised by
some autistic-like behaviours. However, both these disorders are by definition
degenerative conditions with a poor prognosis. Although regression occasionally
occurs in individuals with the three other forms of PDD (see Chapter 5), contin-
ued degeneration is not typical. In the years following the publication of DSM-IV,
it therefore became customary to group autistic disorder, Asperger disorder and
PDD-NOS as subtypes of autism, leaving question marks over the relationship of
Rett syndrome and childhood disintegrative disorder to autism. Diagnostic cri-
teria for all three autism subtypes included social interaction impairments and
restricted and repetitive behaviours. Autistic disorder was to be distinguished from
Asperger disorder by the presence of language impairments in the former but
%
What is Autism?

not the latter condition. PDD-NOS was to be distinguished from the other two
conditions by the fact that the social interaction impairment and restricted and
repetitive behaviours occurred in mild or atypical form.
DSM-IV-TR (APA, 2000)
DSM-IV was updated in a ‘Text Revised’ (TR) edition in 2000. In DSM-IV-TR,
diagnostic criteria for the three autism subtypes were largely unchanged, although
some additional detail was given concerning behaviours that might help to iden-
tify cases of PDD-NOS or of Asperger disorder.

International Classification of Diseases (ICD) Definitions

The tenth edition of the International Classification of Diseases (ICD-10) pub-

lished in 1992 by the World Health Organisation (WHO) provided diagnostic
criteria for use by clinicians, and the edition published in 1993 provided diagnos-
tic criteria for use by researchers. The research criteria were slightly more detailed
and precise than the clinical definitions, reflecting the fact that researchers need to
be as certain as possible that the diagnosis really is appropriate, whereas clinicians
may need to take a more inclusive approach to diagnosis.
ICD-10, like DSM-IV, conceptualised autism as a set of subtypes coming
under the broad heading of PDDs. Suggested names for subtypes differed
from those in DSM-IV, being childhood autism (instead of ‘autistic disorder’),
Asperger’s syndrome (instead of ‘Asperger disorder’) and atypical autism
(instead of ‘PDD-NOS’). However, diagnostic criteria for the three subtypes
were essentially the same as those in DSM-IV, although behaviours that might
be associated with ‘Asperger syndrome’ were more fully described.
An extended and updated edition of ICD diagnostic criteria and descriptions
is due for publication in 2018 following an extended period of consultation and
drafting. Those in charge of this process have stated that they aim to align ICD-11
with the latest edition of the DSM (described in the next chapter) as closely as
possible. However, there are likely to be slight differences, as in previous editions.
Readers interested to follow progress on the development of ICD-11 prior to
publication should look for the acronym iCAT, standing for ‘internet Collaborative
Authoring Tool’ on the WHO website.

SUMMARY
Likely cases of autism were occasionally reported from as early as the eighteenth
century. However, the first detailed descriptions of autism based on clinical obser-
vation were those of Kanner (1943) and Asperger (1944/1991). Asperger’s work,
written in German, did not become well known in the English-speaking world
until the early 1980s; and for 40 years Kanner’s view that autism was always asso-
ciated with language and learning impairments was universally accepted.

10
 Historical Background

Initially, autism was conceptualised as either a form of neurosis associated with

inadequate mothering, or as a form of psychosis synonymous with childhood
schizophrenia. Both these views had been abandoned by the 1970s in the face of
contrary evidence. There was then a return to Kanner’s original view that autism
is a brain-based, neurodevelopmental condition characterised by a distinctive set
of behavioural abnormalities. This view was officially recognised when ‘infantile
autism’ was included in the third edition of the Diagnostic and Statistical Manual
of Mental Health Disorders, published in 1980. Shortly afterwards, Asperger’s work
became known, and it was realised that autism-related conditions included people
with normal language and intelligence. However, Asperger syndrome as a subtype
of autism was not recognised in the diagnostic manuals until the 1990s.

11
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 CURRENT CONCEPT
AND DEFINITION

INTRODUCTION

DSM-5 CONCEPT AND DEFINITION

Diagnostic Criteria for Autism Spectrum Disorder
Changes from DSM-IV to DSM-5

WHY THE CHANGES?

Why Abandon Subtypes in Favour of a ‘Spectrum’?
Why Only Two Core Impairments?
Why are Sensory Anomalies Included?
Why Add ‘Descriptors’?
Why the Changed Status of Impaired Language?
Why Allow for Late Diagnosis?
‘Social Communication Disorder’: What is it, and Why is it Mentioned?

ORs, CMIGINS: WOMMalEyCIeVAIN (GIES

People with an Existing Subtypes Diagnosis, and their Families
Professionals, Especially Clinicians and Researchers

APPLYING THE CRITERIA IN PRACTICE

Generalised versus Manifest Behaviour

SUMMARY
What is Autism?

The main aims of this chapter are: (1) to give an account of the latest attempt to
define and characterise what is now officially named ‘autism spectrum disorder’;
(2) to outline some of the reasons why this change in name, and other major
changes to the definition and description of ‘autism; have been made; (3) to indi-
cate some of the objections that may be made to some of these changes; and
(4) to indicate how DSM-5 diagnostic criteria and descriptors may apply in practice
to a very diverse group of people. An underlying aim of the chapter is to emphasise
that because we don’t know enough to be able to say definitively what autism is,
the concept and definition will undoubtedly change again in future years.

INTRODUCTION
Giving a name to anything, such as a kind of tree, an emotion, a colour, a mental
health condition, involves agreeing on what the named thing is. Naming some-
thing is driven by the need to communicate about it, although the reasons why
we may need or want to communicate about something are extremely varied. In
the case of a mental health condition, the pressure to communicate about it is
driven first and foremost by the need to identify the distinctive set of behavioural
anomalies or difficulties adversely affecting a particular group of people, so as to
develop ways in which their difficulties may be prevented, overcome or alleviated.
(For elaboration of these reasons, see Chapter 11, especially the section entitled
‘Why Diagnose?’)
Sometimes we need to name something tentatively before we can say defini-
tively what it is, improving our understanding over possibly long periods of time.
Moreover, improved understanding may result in re-naming something, so as to
better represent an updated concept of what the named thing is. For example,
astronomers used to refer to what’s-out-there-in-space as ‘the ether’, whereas
nowadays astrophysicists might refer more specifically to ‘dark matter’ (though
they are still not able to say exactly what dark matter actually is). The terms used
to refer to what in this book is generally called ‘autism’ are of this kind: from
‘childhood schizophrenia/psychosis’ to ‘early childhood/infantile autism’ to ‘per-
vasive developmental disorders’ including Asperger syndrome, autistic disorder
and PDD-NOS - these are all terms that have in turn been superceded.
This terminological instability results from the fact that autism presents as a
complex behavioural condition which we are as yet unable to fully understand
or explain, despite the considerable progress that has been made since it was first
tentatively identified. Nevertheless, we are getting better at characterising the
kinds of behaviour that invariably or commonly occur in the group of people that
clinicians and others see as ‘autistic’.This progress is reflected in the latest attempt
to characterise what autism is and to establish evidence-based guidelines for the
diagnosis of individuals who are autistic.

14
 Current Concept and Definition

In the next section, these guidelines are presented first. Justifications for the
latest changes made to the diagnostic terminology and criteria for autism will then
be outlined. Objections to some of these changes will be considered. The chapter
ends with two thumbnail sketches of real-life individuals, both of whom qualify
for a diagnosis of autism spectrum disorder (ASD) despite the diversity of their
manifest behaviours. !

DSM-5 CONCEPT AND DEFINITION

Diagnostic Criteria for Autism Spectrum Disorder

After extensive consultation and deliberation by mental health experts over a

14-year period, a fifth edition of the Diagnostic and Statistical Manual of Mental
Disorders (DSM-5 — note use of the Arabic numeral) was published by the
American Psychiatric Association in 2013.
In DSM-5 the concept of ‘autism’ was radically changed from the concept that
had underpinned the definition of autism in DSM-IV (1994) and DSM-IV-TR
(2000) (see Chapter 1). DSM-5 diagnostic criteria for what is now termed ‘autism
spectrum disorder’ are shown in Box 2.1.

Changes from DSM-IV to DSM-5

Seven major changes were made, as outlined below.

1. Whereas DSM-IV had conceptualised autism as a set of related but diagnostically distinct
subtypes of ‘pervasive developmental disorders, DSM-5 abandoned the PDD-subtypes
concept, returning to the earlier notion of autism as a single mental health condition, now
referred to as ‘autism spectrum disorder (ASD’).
2. Fora diagnosis of ASD, behaviour must be significantly impaired in two, instead of three,
major ways. Specifically: what were described separately in DSM-IV as ‘social interaction
impairments’ and ‘communication impairments’ are now combined as ‘deficits in social
communication and social interaction’ (see A. under ‘Diagnostic criteria’ in Box 2.1).
3. Restricted and repetitive behaviour remains as an essential element in the diagnostic cri-
teria for ASD (see B. under ‘Diagnostic criteria’ in Box 2.1). However, sensory behaviours
are now included as one of the most common forms of restricted, repetitive behaviours
(RRBs) (see B.4 under ‘Diagnostic criteria’ in Box 2.1). Sensory anomalies were not men-
tioned in DSM-IV, although mentioned in earlier definitions.
4. Diagnostic criteria for ASD are now supplemented by descriptors. These concern (a) the
severity of the criterial impairments or anomalies; and (b) the presence of any additional
diagnosable conditions or special circumstances, referred to as specifiers.
5. Delayed or impaired language is listed as a possible specifier instead of being included as
a possible manifestation of ‘communication impairment:

Words or phrases in bold type on first occurrence can be found in the Glossary.

15
What is Autism?

6. It is explicitly recognised that the behaviours essential for a diagnosis of ASD, although
present from early childhood and retrospectively identifiable, may not ‘become fully mani-
fest’ and a cause for concern until ‘demands exceed limited capacities:
7. Anew diagnostic category, termed social communication disorder, is introduced. This
diagnosis is intended to apply to individuals who have the socio-emotional-communicative
(SEC) impairments and anomalies typical of ASD, but not the RRBs:

Box 2.1 DSM-5 diagnostic criteria and descriptors

for autism spectrum disorder
Diagnostic Criteria: All four criteria, A,B, C, and D must be met for a diagnosis
of ASD to be made.

A. Persistent deficits in social communication and social interaction across mul-

tiple contexts, as manifested by all three of the following, currently or by history
(NB: examples are illustrative, not exhaustive).

1. Deficits in social-emotional reciprocity, ranging, for example, from abnor-

mal social approach and failure of normal back-and-forth conversation; to
reduced sharing of interests, emotions, or affect; to failure to initiate or
respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction,
ranging, for example, from poorly integrated verbal and nonverbal com-
munication; to abnormalities in eye contact and body language or deficits
in understanding and use of gestures; to a total lack of facial expressions
and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships, rang-
ing, for example, from difficulties adjusting behavior to suit various social
contexts; to difficulties in sharing imaginative play or in making friends; to
absence of interest in peers.

B. Restricted, repetitive patterns of behavior, interests, or activities as manifested

by at least two of the following:

1. Stereotyped or repetitive speech, motor movements, or use of objects

(such as simple motor stereotypies, echolalia, repetitive use of objects, or
idiosyncratic phrases).
2. Excessive adherence to routines, ritualized patterns of verbal or nonver-
bal behavior, or excessive resistance to change (such as motoric rituals,
insistence on same route or food, repetitive questioning or extreme dis-
tress at small changes).
3. Highly restricted, fixated interests that are abnormal in intensity or focus
(such as strong attachment to or preoccupation with unusual objects,
excessively circumscribed or perseverative interests).
4. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory
aspects of environment (such as apparent indifference to pain/heat/cold,
adverse response to specific sounds or textures, excessive smelling or
touching of objects, fascination with lights or spinning objects).

16
 Current Concept and Definition

C. Symptoms must be present in early childhood (but may not become fully
manifest until social demands exceed limited capacities).

D. Symptoms together limit and impair everyday functioning.

Descriptors: Severity Levels and Specifiers

Severity of socio-communicative impairments:
Level 1: ‘Requiring support’: Without supports in place, deficits in social com-
munication cause noticeable impairments. Has difficulty initiating social interac-
tions and demonstrates clear examples of atypical or unsuccessful responses
to social overtures of others. May appear to have decreased interest in social
interactions.

Level 2: ‘Requiring substantial support’: Marked deficits in verbal and nonverbal

social communication skills; social impairments apparent even with supports in
place; limited initiation of social interactions and reduced or abnormal response to
social overtures from others.

Level 3: ‘Requiring very substantial support’: Severe deficits in verbal and non-
verbal social communication skills cause severe impairments in functioning; very
limited initiation of social interactions and minimal response to social overtures
from others.

Severity of restricted, repetitive behaviors (RRBs):

Level 1: ‘Requiring support’: RRBs cause significant interference with functioning

in one or more contexts. Resists attempts by others to interrupt RRB’s or to be
redirected from fixated interest.
Level 2: ‘Requiring substantial support’: RRBs and/or preoccupations or fixated
interests appear frequently enough to be obvious to the casual observer and inter-
fere with functioning in a variety of contexts. Distress or frustration is apparent
when RRBs are interrupted; difficult to redirect from fixated interest.

Level 3: ‘Requiring very substantial support’: Preoccupations, fixated rituals and/or

repetitive behaviors markedly interfere with functioning in all spheres. Marked dis-
tress when rituals or routines are interrupted; very difficult to redirect from fixated
interest or returns to it quickly.

Specifiers

with or without accompanying intellectual impairment

with or without accompanying language impairment
associated with known medical or genetic condition or environmental factor
associated with another neurodevelopmental, mental, or behavioral disorder
with catatonia
onset (eg with regression) is to be described
(APA, 2013, with permission)
What is Autism?

WHY THE CHANGES?

In what follows, justifications for each of the seven major changes outlined above
are considered in turn. There follows a short section summarising possible criti-
cisms of the DSM-5 concept and criteria for ASD.

Why Abandon Subtypes in Favour of a ‘Spectrum’?

Fuzzy boundaries
The major problem with the subtypes concept was that it proved difficult in prac-
tice to make unambiguous distinctions between the three putative subtypes of
autism. As a result, the diagnostic labels were inconsistently applied (Happé, 2011).
The distinction between ‘autistic disorder’ and ‘Asperger disorder’ (‘Asperger syn-
drome’ (AS) as it became more commonly known) was particularly problematic
in practice. According to DSM-IV, the presence or absence of impaired language
ability is critical to the distinction (see Chapter 1). However, there is currently
no evidence of a clear cut-off point between autistic disorder and AS in terms of
language ability. Rather, there is a continuum of language abilities from superior in
some individuals through to good average, to low average, to mild impairment in
others, down to moderately, severely, and finally profoundly impaired in yet other
individuals. Intelligence, or what will more usually be referred to in this book as
‘learning ability’ — which was also seen as critical to the distinction between autis-
tic disorder and Asperger disorder — also lies on a continuum varying from superior
to profoundly impaired, with all gradations in between.
The lack of clear boundaries between autistic disorder and AS meant that in
practice the diagnostic labels were loosely used, with a bias towards inappropriate
use of the Asperger label. This bias is understandable, because a diagnosis of AS
had more positive connotations than a diagnosis of autistic disorder. The hopes
and expectations of parents, teachers and others of a child diagnosed with AS were
justifiably quite high in terms of likely ability to do well at school, attend univer-
sity, find employment and live independently. And expectations are important
because to some extent they are self-fulfilling. Similarly, self-esteem need not be
adversely affected in an adult with a late diagnosis of AS, whereas a diagnosis of
autistic disorder is harder to come to terms with. Understandable as it is, stretch-
ing the Asperger label to cover not only borderline cases, but sometimes cases fully
meeting criteria for autistic disorder, reduced its meaningfulness and usefulness.
The label ‘Asperger syndrome’ was also over-used at what might be termed
the ‘top end’ of the autism spectrum, where the boundary between autism and
normality/typicality is unclear. The term gained a certain cachet from the rep-
resentation in some popular films and books of people with AS as odd, quirky
characters with amazing talents. The upside of the AS label was further enhanced
in popular understanding by suggestions that very high-achieving individuals such
as Einstein or the philosopher Wittgenstein may have been cases of AS. Thus the

18
 Current Concept and Definition

‘Asperger’ label has risked becoming what Skuse (2011) refers to as ‘autism for
the middle classes’, and what Wing — who first argued for recognition of ‘Asperger
syndrome’ ~ has referred to as ‘a political diagnosis’ (quoted in Skuse, 2011).
Over-emphasis on the special abilities of the most able people warranting a
DSM-IV diagnosis of AS, combined with under-emphasis of the many negative
aspects of the diagnosis (such as vulnerability to bullying at school, and to social
isolation, sexual frustration, and anxiety and depression in adulthood), undoubt-
edly contributed to over-use of the label in everyday speech, including incautious
and potentially damaging usage in some instances (see Box 2.2). Whether or not
this misrepresentation led to over-use of the label by some clinicians, contributing
to the substantial increase over the last decade or two in the reported prevalence
of autism-related disorders, is a moot point (see Chapter 5).

Box 2.2 ‘Shaun’: Not autistic — just unhappy

Shaun was just 5;0 when his parents broke up after a tempestuous relationship.
Shaun stayed with his mother, and his father was forbidden access to Shaun and
his sister whilst being assessed for a mental health disorder. Shaun was consid-
ered too young to be told why he could not see his father, but he kept a photograph
beside his bed and often asked why he couldn't see his daddy.
When Shaun started in the reception class of primary school, his mother men-
tioned that she and Shaun's father were separated, but did not give any details.
She knew that Shaun was somewhat withdrawn, spending hours playing computer
games or drawing imaginary monsters. And he had not yet brought home any
friends to play after school. But he had a close loving relationship with her and he
was gentle and caring with his baby sister. He was also well ahead of other children
in the class in reading and maths, and never got into trouble for bad behaviour.
When attending the first parent-teacher evening, therefore, Shaun’s mother
expected to get a favourable assessment of Shaun’s progress in his first term at
school. Instead, the teacher suggested that he might have Asperger syndrome’
and should be seen by an Educational Psychologist, a suggestion that came out
of the blue to Shaun’s mother, adding to her own emotional burdens and, indi-
rectly, to Shaun’s. Fortunately, after a preliminary assessment, the Educational
Psychologist’s opinion was reassuring. However, she suggested to Shaun’s mother
that she should be more open with Shaun's teacher concerning recent family prob-
lems, and enlist her help to draw Shaun out of his shell at school. This advice bore
fruit. And as things settled down at home, and Shaun got to see his father on a
regular basis, he became more outgoing at school, had a circle of good friends —
and was happy!
Was the teacher wrong, therefore, to voice her suspicions? Probably yes, in
view of the fact that Shaun was so new into school and she knew very little about
his home background at this stage. She might have done better to have encour-
aged the mother to talk about why in her view Shaun was withdrawn at school, and
to suggest a need to ‘keep an eye on him; preparing cautiously for the possibility
of a psychological assessment in the not too distant future.

19
What is Autism?

Diagnostic instability
An additional though very different problem in applying the subtype labels
was that individuals change — sometimes showing remarkable improvement;
sometimes regressing (Seltzer et al., 2003). One individual — I'll call him Sam -
known to me over many years, not only shifted from an authoritative DSM-IV
diagnosis of ‘autistic disorder’ in early childhood to a diagnosis of ‘Asperger
syndrome’ in later childhood, but now — as a young adult — no longer qual-
ifies for any ASD-related diagnosis at all. How did this come about? I have
to say that everything was in Sam’s favour: a very early diagnosis; parents
able to afford every possible kind of appropriate help; a supportive extended
family; and parents themselves, both teachers, who became more expert than
the experts in understanding autistic behaviour and who devoted themselves
to helping Sam (cf. Orinstein et al., 2014). Other cases of optimal outcome
(OO), although rare, are now well documented (Fein et al., 2013). As in Sam’s
case, residual traces of ASD remain, but are so attenuated as not to warrant an
ASD diagnosis (Tyson et al., 2014).
Advantages of the spectrum concept
The concept of autism as a spectrum made up of individuals having in common
certain kinds of unusual or impaired behaviours, while varying widely in many
critical ways, had been argued for as long ago as 1979, as described in Box 2.3.

Box 2.3 The Camberwell Study

In 1979, Wing and Gould published a report of a large-scale study of children
with special educational needs (aka ‘exceptional children’) attending schools in the
London area of Camberwell. In this study the clinician-researchers identified some
children who had all the behavioural impairments originally described by Kanner
(1943), including impaired language and low learning ability; other children who
were more able in terms of language and learning abilities, but who were never-
theless ‘autistic’; and some children who had some but not all of the behavioural
impairments characteristic of autism. Wing and Gould did not see these roughly
differentiable groups as clear-cut subtypes of autism. Instead, they wrote first of a
continuum of autism-related problems, later preferring the term ‘the autism spec-
trum’ to refer to the varied forms that autism might take.
In their report of the Camberwell study, Wing and Gould stressed the impor-
tance of explicitly recognising that there is a continuum of severity with which
autism-related behaviours occur; also that language ability and learning ability
vary, covering the full range from entirely normal to profoundly impaired. Finally,
Wing and Gould noted that some but not all of the children had additional physi-
cal disabilities, medical problems or developmental difficulties and that these, too,
might be more or less severe.
In sum, Wing and Gould’s report prefigured not only the DSM-5 concept of a
spectrum of autistic disorders, but also the descriptors needed to provide a full
account of each individual’s problems and needs.

20
 Current Concept and Definition

The term ‘spectrum’ allows for the fact that people whose behaviours conform
to Asperger’s descriptions are clearly very different from people conforming to
Kanner’s descriptions — as different from each other as the colours at opposite ends
of the spectrum of visible light. At the same time, just as violet morphs into blue,
then into green, yellow, orange and finally red, the word ‘spectrum’ captures the fact
that there are no clear boundaries between the different forms that autism takes.
The term ‘autism spectrum’ was, in fact, increasingly commonly used from the
1990s onwards. Some clinicians and researchers preferred to use the term ‘autism
spectrum disorders’ (plural), allowing for the possibility of the identification of
discrete subtypes at some future time. Others used the term in its singular form,
anticipating DSM-5 usage.

Why Only Two Core Impairments?

Social interaction and communication are inextricably related: all successful com-
munication involves social interaction, whether directly or indirectly; and all truly
social interaction involves communication of some kind or another, Certainly, com-
munication can be unsuccessful and fail to achieve the intended interaction. For
example, sending messages about humankind into space has not yet, so far as one
can tell, achieved the aim of making social contact with aliens. Equally, not all inter-
actions between people are social and therefore communicative. For example, two
people might accidentally collide on a crowded street, thus physically interacting
but not communicating. However, the overlap and mutual dependencies between
social interaction and communication are far more compelling than the differences.
That is why ‘social interaction impairment’ and ‘communication impairment’
needed to be merged.

Why are Sensory Anomalies Included?

‘Abnormal response to perceptual stimuli’ was listed as one of ‘Creak’s Nine Points’
(see Box 1.2). Similarly, Ritvo and Freeman's (1977) definition of autism for the
National Society for Autistic Children in the US included ‘Abnormal responses
to sensations: any one or a combination of sight, hearing, touch, pain, balance,
smell, taste’. Again, the first official criteria for the diagnosis of autism published
as DSM-III in 1980 included ‘Bizarre responses to aspects of the environment’.
Moreover, first-hand accounts of what it is like to be autistic invariably emphasise
peculiarities of sensory-perceptual experience (see Box 3.4, in the next chapter).
It is hard to understand, therefore, why sensory abnormalities were not mentioned
in DSM-IV, and their re-inclusion in DSM-5 is logical and welcome.

Why Add ‘Descriptors’?

Descriptors indicating the severity and complexity of any one individual's condi-
tion were introduced across most of the mental health disorders listed in DSM-5.
%

21
What is Autism?

In the case of ASD, the combination of diagnostic criteria plus these two sets of
descriptors is designed to be sufficiently broad to encompass the whole range
of people with autism-related behaviours in all their diversity. The introduction of
descriptors was also specifically intended to facilitate the development of appro-
priate, individualised treatment plans. ;
It remains to be seen how useful the addition of descriptors is in practice.
However, official recognition of huge differences in the problems and needs
amongst individuals with ASD is to be welcomed in that it helps to counteract any
illusion of homogeneity, such as may be fostered by bringing together all forms of
autism under the single heading of ‘Autism Spectrum Disorder’.

Why the Changed Status of Impaired Language?

Until the publication of DSM-5, delayed or impaired language had always been
mentioned either as a necessary component of a communication impairment
(as in Kanner’s early formulation) or as a possible component of the communica-
tion impairment (once Asperger’s descriptions became well known). However,
if impaired language is not invariably present in people with ASD, then it makes
sense to list it as a specifier rather than under the umbrella of ‘socio-communicative
impairment’.
In making this change, the DSM-5 experts were again going along with a change
that was already widely accepted in practice. In particular, it had become com-
monplace to describe individuals with the hallmark behaviours of autism, but
with good language and intellectual abilities, as having ‘pure’ autism. By implica-
tion, those with additional language (and learning) problems were seen as having
‘autism + additional problems’.
It may not be immediately obvious why ‘communication’ and ‘language’ are
considered separable, or, to use the more technical term, ‘dissociable’. After all,
human beings communicate via language, pre-eminently, using words and sen-
tences. However, communication is something that we do, using spoken and
written words, for sure, but also by gestures, facial expressions, body movements,
flag-waving, smoke signals, pictorial signs... Language, on the other hand, is some-
thing that we have: a store of words (or signs) and their meanings; our knowledge
of grammar. Asperger (1944/1991) captured this distinction perfectly when he
noted that the individuals he was seeing in his clinic had ‘good grammar and
vocabulary but inappropriate use of speech’. More is said about this important
distinction in Chapter 4.

Why Allow for Late Diagnosis?

It has become increasingly common over the last couple of decades for a diagnosis
of ASD to be made quite late in childhood, or in adulthood. DSM-5 diagnostic
criteria specifically allow for this (see under ‘C’ in Box 2.1), once again accepting,
rather than initiating, a trend that is already well established in practice. Notice,

22
 Current Concept and Definition

however, that a diagnosis of ASD still requires that signs of autism have been pres-
ent from quite early in childhood, even if identified only in retrospect.
The increase in late diagnosis undoubtedly largely reflects greater recognition of
mild forms of ASD occurring in able individuals who compensate well, and who
‘get by’ socially — at least until some life event brings their autism-related prob-
lems under the spotlight. An academic colleague of mine was diagnosed at the age
of 60, when his marriage finally broke up. Recognition of the role of his autistic
tendencies in breaking up his marriage made the separation more comprehensible
to both him and his wife, softening the elements of blame and recrimination expe-
rienced by both partners. Another case of late diagnosis, and the relief it brought
to the individual involved, is described in Chapter 11, Box 11.2.

‘Social Communication Disorder’: What is it,

and Why is it Mentioned?

DSM-5 diagnostic criteria for Social Communication Disorder (SCD) can be

found on the internet and will not be detailed here. In brief, however, SCD is
characterised by persistent difficulties in the social use of verbal and nonverbal
communication sufficiently severe as to interfere with social relationships, aca-
demic achievement and occupational performance. Communication difficulties
will have been present from a very early age, though often not noticed until a child
enters school. SCD should only be diagnosed if an individual’s communication
impairment is not explicable in terms of some other diagnosable condition, such
as learning disability, deafness, autism, or a speech or language impairment.
The experts who worked over several years to produce DSM-5 justified their
introduction of this novel category of mental disorder as follows:

The SCD diagnosis was needed to ensure that the unique needs of affected individuals are
met. ... Because the symptoms described in SCD were not defined in previous editions of
DSM, many individuals with such symptoms may have been lumped under the ‘not otherwise
specified’ category of ‘pervasive development disorder: This led to inconsistent treatment and
services across different clinics and practices. Research shows that communication disorders
are amenable to treatment, so identifying distinct communication problems are an important
first step in getting people appropriate care. (http://dsm5.org/APA)

Although SCD was not defined in previous editions of the DSM, it had been
recognised and well researched long before DSM-5 was published. ‘Social
communication’ problems were first identified in children by Rapin and Allen
(1983). These authors described such children as having ‘conversational diffi-
culties’ or, to use the more technical term, problems of pragmatics (see Box 4.2).
They suggested that these children also had problems with word mean-
ings (‘lexical semantics’ — see Box 4.2), and suggested the name ‘semantic-
pragmatic disorder’ be used to identify children with this combination of
problems. Subsequent research, however, showed that although the two types
of problem sometimes occur together, they can occur separately and in the
z

23
What is Autism?

absence of the socio-emotional interaction impairments that are a necessary

feature of autism (Bishop & Norbury, 2002; Botting & Conti-Ramsden, 2003).
DSM-5 was therefore officially recognising a well-justified distinction.

OBJECTIONS TO THE CHANGES

At the time of writing, objections — or fears as to the consequences of — the changes
to diagnostic criteria come from people in two interest groups in particular. The
first of these consists of people with an existing subtypes diagnosis, and their fami-
lies. The second group consists of professionals involved in work relating to autism,
including some clinicians with responsibility for diagnosis, and also some research-
ers. The objections or reservations of these two groups are considered separately.

People with an Existing Subtypes Diagnosis,

and their Families

Asperger syndrome When DSM-5 was published in 2013 it was explicitly stated
that people who already had a diagnosis of Asperger syndrome would retain that
diagnostic label. This assurance did not, however, prevent some adults with the
diagnosis from expressing dismay, mainly at the loss of a designation that had, for
them, been the linchpin of their sense of identity. For example, one such person
blogged: ‘The psychiatric bible tells me I’m autistic but in my heart I will always
have Asperger’s.’ Later in his blog this person expressed a sense of distaste and
apprehension at being described as ‘autistic’, writing:

Asperger’s sufferers have been put under a new umbrella called ‘autism spectrum disorder,
which lumps us in with autistic people who, in some cases, lack the power of speech... .
(Matthieu Vaillancourt, http://blogs.spectator.co.uk/2015/05)

Some parents of offspring with an existing AS diagnosis have also been vocal
about their sense of loss. Elaine Nicholson, for example, writing in a newsletter for
the charity ‘Action for Aspergers’, uses the term ‘mourning’ to describe how she
feels at the loss of ‘Asperger syndrome’ as a diagnostic category. She, like Matthieu
Vaillancourt, is also honest enough to voice fears of the stigmatisation she sees
as associated with an ‘autism’ diagnosis (an unjustified fear according to a survey
reported by Ohan et al., 2015).
By no means do all articulate adults with an AS diagnosis feel so negatively,
however. Another AS blogger writes:

| personally think it’s a good thing. One of the reasons why | feel this way is that [the Asperger's
diagnosis] just seems to have caused so much confusion. | feel that the difference between
Aspergers and High Functioning Autism doesn't exist. (http://www.alexlowery.co.uk/)

24
 Current Concept and Definition

It is important also to point out that some highly able people with ASD, who
are themselves actively involved in understanding and publicising the condition,
are happy to refer to themselves as ‘autistics’, arguing that it is their autism that
makes them the people they are (for a discussion of autism-related terminology
see Kenny et al., 2015).
It is also pertinent to point out that high-functioning people with ASD have over
recent years formed a very strong community, referring to themselves as ‘Aspies’.
Aspies communicate with each other largely through social media. However, they
also organise their own social gatherings and conferences, paying expert ‘insider’
attention to each other’s social, communication and sensory vulnerabilities (for
an engaging account see Silberman’s award-winning book ‘Neurotribes’, 2015).
Aspies form a powerful lobbying group, arguing with increasing success that they
are ‘different’ but not ‘disordered’. This informal, self-named community is not
likely to disintegrate with the loss of the AS diagnostic label. So one hopes that
individuals such as Matthieu Vaillancourt will in time identify themselves as being
an Aspie, and cease to mourn.
Autistic disorder Families of people with an existing diagnosis of ‘autistic disor-
der’ appear not to object to the implication that their offspring should now be
referred to as being ‘on the autism spectrum’ or as having ‘ASD’ (Kenny et al.,
2015). However, some parents have expressed fears that the inclusion of their
child under the same diagnostic label as high-functioning people may lead to a
reduction of services to the less able. This fear is based on the fact that investment
in services for people at the top end of the spectrum produces greater measurable
returns, not least economically, than investment for people at the lower end.
PDD-NOS [have not identified any expressions of concern from individuals with
a PDD-NOS diagnosis or their families. This may be because at least some people
with this diagnosis would now qualify for a diagnosis of ‘Social Communication
Disorder’, providing a more accurate and helpful description of their major prob-
lem than ‘PDD-NOS’. There is, however, some concern amongst clinicians that
people who might formerly have been diagnosed with PDD-NOS (or ‘atypical
autism’, under ICD-10 criteria) will now go undiagnosed (see below).

Professionals, Especially Clinicians and Researchers

Objections to the change from a subtypes toa spectrummodel Tsai and Ghaziuddin
(2014), amongst others, have argued vehemently in support of the subtypes model
of ASD as enshrined in DSM-IV, citing numerous studies in which differences
have been found between groups diagnosed with either AS or autistic disorder, or
with AS or ‘high-functioning autism’. Other clinicians and researchers, however,
dispute the strength of the evidence (see, for example, Happé, 2011, cited earlier
in the chapter).
Another objection to the change from subtypes to a spectrum concept of autism-
related conditions is that if there are no longer diagnostic criteria differentiating
>

25
What is Autism?

putative subtypes of ASD, then it will become increasingly difficult for researchers
to resolve disputes concerning the existence and validity of such subtypes. It is quite
hard to argue with this point, although some authoritative researchers have offered
reassurance (Grzadzinski et al., 2013).
Concerns about possible under-diagnosis Of greater immediate concern is the
possibility that DSM-5 criteria for ‘Autism Spectrum Disorder’ will fail to iden-
tify a significant proportion of individuals who would have received a diagnosis
using DSM-IV criteria. This concern focuses on individuals with atypical autism
who might have been diagnosed with PDD-NOS under DSM-IV criteria; also on
high-functioning individuals with two but not all three of the socio-emotional-
communicative impairments required for an ASD diagnosis in DSM-5. For repre-
sentative articles expressing this concern see Mayes et al. (2014) and Tsai (2014).
For reassurance relating to this concern, however, see Kent et al. (2013} and Huerta
et al. (2012); also the overviews cited below.
Concern as to possible adverse effects on early diagnosis In a paper published in
2015, Zander and Bolte reported a study the results of which suggested that diag-
nosis using DSM-5 criteria risked under-diagnosing ASD in toddlers and young
children. A multi-centre study using ‘gold standard’ assessment procedures mod-
ified to reflect DSM-5 criteria strengthened this finding (de Bildt et al., 2015).
Relatively able young children with ‘milder’ forms of ASD were particularly likely
to be undiagnosed.
In Chapter 11, ongoing improvements to assessment tools, bringing them into
line with DSM5 criteria and increasing their sensitivity to ASD in young children,
will be described. This is an example of ways in which some of the teething trou-
bles associated with recent changes in diagnostic practice are likely to be addressed
over the next few years. It may be the case, for example, that the requirement of
having all three of the socio-emotional-communicative impairments specified in
DSM-5 is relaxed. Clinicians with responsibility for diagnosing people for whom
a diagnostic label is clearly needed, for whatever reason, will no doubt use their
discretion in individual cases.
Accessible overviews of the advantages and disadvantages of the changes to
autism diagnosis introduced in DSM-5 can be found in Halfon and Kuo (2013)
(written for paediatricians) and by Hazen et al. (2013) (written for psychiatrists).
Other useful summaries can be found in Lai et al. (2013) (predominantly posi-
tive) and in Volkmar and Reichow (2013) (somewhat more negative).

APPLYING THE CRITERIA IN PRACTICE

Generalised versus Manifest Behaviour

Descriptions of the criterial features of behaviour presented in diagnostic

manuals are highly generalised. So, for example, under A.1. in DSM-5, it is

26
 Current Concept and Definition

stated that for a diagnosis of ASD to be appropriate there must be ‘Deficits

in social-emotional reciprocity, ranging, for example, from abnormal social
approach and failure of normal back-and-forth conversation; to reduced shar-
ing of interest, emotions, or affect; to failure to initiate or respond to social
interactions’. But these phrases do not identify any actual, concrete instances
of what might constitute, for example, ‘abnormal social approach’ or ‘reduced
sharing of emotions’. This is inevitable because diagnostic criteria are designed
to apply equally to children and adults; to those with high intelligence and
good language as well as to those with profound language and learning impair-
ments; and to individuals with their own personalities and past experiences
in all the different environments in which they might be observed — at home,
at school, at work, on holiday, when well, when ill, etc. However, the need to
generalise entails that the phrases used in the diagnostic manuals fail to convey
the diversity of actual, manifest behaviour that might contribute to a diagnosis
of ASD. Consider, for example, how the actual behaviour of the two children
described in the following ‘thumbnail sketches’ qualifies both of them for a
diagnosis of ASD:

Mandy, age 8 years observed in the school playground at break time Mandy is sitting on
a swing, passively; this is where she is usually to be found at playtime. When another child
approaches, she doesn't look at the child, but gets off the swing and moves to a corner of the
playground with her back to the other children. She rocks from foot to foot. At one point she
utters an odd squeal and flaps her hands excitedly, for no apparent reason. Then she begins
to hit her own head with her hand. The adult on playground duty approaches, takes Mandy’s
hand to stop her hitting herself, and says: ‘Did you want to have a swing, Mandy? Look, there’s
a swing free now. Mandy removes her hand from the adult’s and turns away saying ‘free now:
But she doesn't go towards the vacant swing. Instead she runs off, with a clumsy gait, bumping
into a smaller child who falls over and begins to cry. Mandy stops running, puts her hands
over her ears and stands looking at the weeping child, with an uncomprehending, distressed
expression on her face.

Damien, age 15 years, observed at home Damien is sitting at the dining room table,
tracing a map of New Zealand with extreme care. He tells the observing adult that he is
interested in geology, and asks, rhetorically: ‘Do you know the difference between a fjord
and a sound?’ The adult smiles and says: ‘That’s a funny question! They’re quite different
sorts of things, aren't they?’ Damien ignores the observer’s response and continues with
what he was going to say anyway, providing the textbook definitions of a fjord as opposed
to a sound (as in Queen Charlotte Sound, in New Zealand). Damien’s mother comes in
carrying a tray with cutlery, plates, glasses, etc. to lay the table, and asks Damien to move
his things and feed the dog before tea. Damien complies slowly, putting away his pencils,
ruler, tracing pad, etc. carefully in different compartments of a drawer, while his mother
waits to put the tray down. He then opens a tin of dog food, fills the dog’s bowl, and puts it
in the usual place, but does not call the dog in from the garden. He tells the observer that
he is taking four subjects in his next set of school exams and expects to get top grades
and go to university to study geology. The observer volunteers the information that her
own son is, by chance, already studying geology at university, but Damien doesn't follow
What is Autism?

this up. Instead he asks: ‘Did you know that New Zealand is 268,000 square kilometres
in size, and two thirds the size of California?’ When it is time for the observer to leave,
Damien’s mother says: ‘See the lady to the door, Damien’ Damien rises reluctantly to his
feet and walks behind the observer as far as the front door, immediately turning back
without returning her wave.
*

DSM-5 attempts to capture some of the differences in the manifest behaviour

of individuals, using ‘severity’ as a descriptor. It may be helpful in addition to
consider the range of manifest behaviours indicative of autism in terms of qualita-
tive differences in the kinds of behaviours that may be seen across the spectrum.
Regarding socio-communicative abnormalities, for example, Wing (1996) identi-
fied four qualitatively different patterns of socio-communicative abnormalities, as
summarised in Box 2.4.

Box 2.4 Wing’s four types of autism-related

social behaviour
The aloof group behave as though other people did not exist. They might, for
example, obliviously bump into someone who is coming through a door towards
them carrying a tray of drinks. They do not respond to, or willingly accept, social
approaches from others. For example, an ‘aloof’ 4;0 year old will struggle to get
free if picked up to sit on an adult’s knee. An ‘aloof’ adult may get up and move
away if another person sits on a seat beside them.
The passive group are not completely cut off from others. They accept social
approaches but do not initiate social interaction. For example, if picked up to sit on
an adult’s knee, a 4;0 year old ‘passive’ child will not wriggle off the adult’s lap, but
will prefer to sit facing forwards, avoiding eye contact or face-to-face interaction. A
‘passive’ adult will tolerate having someone come to sit beside them, but will not
initiate conversation.
The active but odd group make social approaches to other people, but do
so in a peculiar one-sided fashion. Repetitive questioning is a feature of this
group, who have the motivation to make social contact but do not have varied
means of achieving this. So, for example, an ‘active but odd’ teenager or adult
may approach a visitor to their school or college repeatedly asking ‘What's your
name?’... ‘What’s your name?’... A more able individual may monologue about
their own special interest, regardless of the other person’s attempts either to
join in or to change the subject.
The overly formal, stilted group are highly able adolescents or adults who
are excessively polite and formal. They try very hard to behave well and cope by
sticking rigidly to the rules of social interaction.
ie
Wing did not see her ‘aloof’, ‘passive’, ‘active-but-odd’ and ‘stilted’ descrip-
tions as identifying discrete subgroups, but rather as typifying points along

28
 Current Concept and Definition

a continuum of socio-communicative abnormalities/oddities. Moreover, she

stressed that — given appropriate intervention and support — individuals’
behaviour often changes over time. For example, the ‘aloof’ child who bur-
ies her head in her arms to escape other people (e.g. Mandy) may become a
‘passive’ child who tolerates being touched, and who will hold the teacher’s
hand although never initiating contact herself. And the ‘active-but-odd’ ado-
lescent who initiates conversation, even if clumsily (e.g. Damien), may in time
learn the ‘rules’ of acceptable socio-communicative behaviour and achieve less
self-centred, albeit somewhat ‘stilted’, interaction.
Similarly, restricted and repetitive behaviours may be described as lying
along a continuum from self-stimulatory stereotypic movements (rocking,
hand-flapping, biting the backs of the hands), through to pre-occupation with
the manipulation of objects or materials (turning on light switches or taps; let-
ting sand slide through the fingers; twiddling a drinking straw held very close
to the eyes), to insistence on routines (e.g. for eating, dressing, the route taken
to school) and maintenance of sameness (e.g. of the arrangement of furniture
in a room), to repetitive utterances — idiosyncratic or ostensibly meaningful
but inappropriately used, to restricted interests and strongly preferred topics
of conversation (e.g. dinosaurs, railway timetables, military equipment), to the
adaptive (i.e. constructively useful) amassing of factual knowledge relevant to
certain areas of legitimate study, and ‘one-track-mindedness’ in pursuing a par-
ticular hobby or interest.

SUMMARY
The DSM-5 concept and diagnostic criteria for autism changed from those in
DSM-IV in quite radical ways, including the following. First, the concept of sub-
types of pervasive developmental disorder was abandoned in favour of the concept
of autism as an indivisible spectrum of related conditions. Secondly, a diagnosis
of autism spectrum disorder requires that two, rather than three, major behav-
ioural anomalies are present, namely SECs and RRBs. Thirdly, behaviours coming
under the heading of RRBs include hyper- and hypo-sensitivity to sensory stimuli.
Fourthly, individuals satisfying the two basic criteria for ASD are differentiated
by two groups of ‘Determiners’: the severity of SEC impairments and RRBs, and
the absence or presence of additional specifiers. The most commonly occurring
specifiers are recognised as being learning disability and language impairment.
Other specifiers include various comorbid medical conditions. Finally, a condition
to be known as ‘Social Communication Disorder’ is for the first time recognised in
DSM-5 and differentiated from ASD. These changes, which were agreed upon by
experienced clinicians in the field who consulted widely with other ‘stakeholders’
over an extended period, have had a mixed reception. Inevitably, it is those with

Pee)
What is Autism?

the negative reactions who have been the most vocal in the first years following
publication of DSM-5. In particular, some individuals with an existing diagnosis
of Asperger syndrome, or who have committed much of their lives to working
with and for people with AS, feel a sense of betrayal. There is also some evidence
that DSM-5 criteria may be too restrictive, with the danger that some individuals
who should be diagnosed with ASD are not identified using currently available
assessment methods. To illustrate the difficulties of formulating diagnostic guid-
ance that is sufficiently general to identify individuals from the bottom to the top
of the spectrum, the chapter closes with ‘thumbnail sketches’ of two extremely
different children whose behaviour in both cases satisfy DSM-5 criteria.

30
 THE FULLER PICTURE:
SHARED CHARACTERISTICS.

INTRODUCTION

EXPANDING THE DIAGNOSTIC DESCRIPTIONS

Social, Emotional and Communicative Impairments
Restricted, Repetitive Behaviours and Sensory-Perceptual Anomalies

SOME ADDITIONAL SHARED CHARACTERISTICS

Imagination and Creativity: Strengths and Weaknesses
Islets of Ability
Motor Skills: Strengths and Weaknesses
Impaired Sense of Self

SUMMARY
What is Autism?

AIMS
The main aim of this chapter is to provide a more detailed account than has been
- given so far of what people on the autism spectrum have in common with each
other, even when the actual manifestations of these characteristics vary across
individuals and over time. Subsidiary aims are: (1) to ensure an appreciation of the
complexity of the behavioural, physical and medical characteristics that may occur
in individuals with a diagnosis of ASD; (2) to stress strengths as well as ‘impair-
ments’ or ‘anomalies.

INTRODUCTION
Chapter 2 presented and discussed the latest attempt to identify the distinctive
behaviours that people with ASD have in common with each other, behaviours
that can be said to be pathognomic! of ASD. Although accepting that there
are differences in the severity with which these pathognomic behaviours occur,
and differences relating to whether or not additional conditions are present, DSM-5
presents a ‘bare bones’ answer to the question ‘What is autism?’ A fuller pic-
ture than has been presented so far is important for establishing “What has to be
explained’ in Part II of the book, concerning causes of autism. It is also impor-
tant for identifying and responding accurately and appropriately to the practical
needs of individuals within the ASD population, to be discussed in Part III. In this
chapter, therefore, the bare bones account of the diagnostic impairments will be
fleshed out. Some other behavioural characteristics that people with ASD almost
certainly share, but which are not mentioned in DSM-5, will also be described.

EXPANDING THE DIAGNOSTIC

DESCRIPTIONS

Social, Emotional and Communicative Impairments

Impaired dyadic interaction?

The earliest signs that an individual may at some future time warrant a diagnosis
of autism occur long before most of the socio-emotional-communicative (SEC)
impairments described in DSM-5 are readily apparent. Retrospective studies of
family videos, also prospective studies of infants at risk for autism, indicate that

'Words or phrases in bold type on first occurrence can be found in the Glossary.

*Another term used to refer to one-to-one social interactions in infancy is primary intersubjectivity, but ‘dyadic inter-
action’ will be used here. Similarly, the term ‘triadic interaction’ will be preferred to the alternative term, secondary
intersubjectivity.

32
 The Fuller Picture: Shared Characteristics

the earliest signs of prodromal autism are a lack of dyadic interaction behaviours
_ such as making eye contact or responding to their own name.
Dyadic social interactions involve two people attending solely to each other.
Typically developing babies’ earliest social interactions are all of this one-to-one
kind. So, for example, within the first two months of life typically developing
infants smile in response to another’s smile and hold another's face-to-face gaze as
if entranced. They also involuntarily imitate other people’s facial movements, such
as opening the mouth or protruding the tongue. Within the first six months they
engage in face-to-face lap play, initiating and turn-taking in protoconversations
or games such as peek-a-boo, unconsciously synchronising their own sounds and
movements with those of the other person (Trevarthen & Aitken, 2001; Sigman
et al., 2004). Dyadic social interaction continues throughout life, typically occur-
ring in the context of intimate relationships.
Prospective studies suggest that babies who will later be diagnosed with ASD
have relatively normal one-to-one interactions with primary caregivers in their
earliest months, but lose these some time between the ages of six months and
24 months (Zwaigenbaum et al., 2013; Jones et al., 2014). This age range cor-
responds to the range of ages-of-onset of ASD identified by parental report (see
Chapter 5). Dyadic interaction never regains complete normality in people with
ASD, although targeted intervention may ameliorate the impairments.
Impaired triadic interaction
Triadic interactions involve two people attending to the same thing: ‘you, me, and
X’. Within the first six months of life, typically developing infants will turn their
heads to look where someone else is looking, a response known as gaze following.
By the end of their first year, they will turn back to check where the other person
is looking, demonstrating implicit (subconscious) awareness that something in the
environment can be the object of shared or joint attention — ‘What I see, you see’,
or ‘What I find interesting/funny/scary, you may also find interesting/funny/scary
In the first half of their second year they start to use protodeclarative pointing to
draw someone else’s attention to something of interest, as illustrated in Figure 3.1.
Children with ASD have long been known to lack these early mind-sharing
behaviours (Curcio, 1978; Loveland & Landry, 1986), and an absence of joint
attention behaviours, in particular a lack of protodeclarative pointing, is one of the
most reliable early indications that a toddler is autistic (see Chapter 11).
Impaired mindreading
‘Mindreading’ is a broad term covering all kinds of insights and understandings
of other people’s minds, from an implicit (unconscious) appreciation that ‘What
I see, you see’ (as illustrated in Figure 3.1), to the ability to reason consciously
about what another person believes, knows, feels, wants etc., and to predict their
behaviour accordingly.
The phrase ‘theory of mind’ (ToM) is frequently used in the same broad sense
as ‘mindreading’. However, ‘ToM’ will be used narrowly here. Specifically, implicit
ToM will be used to refer to unconscious knowledge of what another person may
see, feel, know, etc. Explicit ToM will be used to refer to the conscious verbalisable

33
What is Autism?

Figure 3.1 Protodeclarative pointing and joint attention

knowledge of what another person sees, etc. Explicit ToM ability brings with it
the capacity to reason about the contents of another person’s mind and to make
a verbalisable prediction about their behaviour. Theory of mind tests, whether of
implicit or explicit ToM, are widely known as ‘false belief tasks’. Over the years
since the early 1980s when the first test of explicit ToM in typically developing
children was reported, numerous versions of false belief tasks have been used.
Most commonly these involve the acting out of scenarios using puppets or dolls,
or verbally presented stories with illustrative drawings. Examples of tests used to
assess explicit ToM and implicit ToM, respectively, are outlined in Box 3.1.
Studies of implicit ToM show that typically developing 1;0 year olds already
have implicit ToM: they involuntarily glance towards the empty box (Onishi &
Baillargeon, 2005; Kovacs et al., 2010). By contrast, tests of explicit ToM are not
passed by typically developing children until around the age of 4;0 years.
As has long been known, school-age children and adults with ASD struggle to
succeed on tests of explicit ToM (Baron-Cohen et al., 1985; Yirmiya et al., 1998).
More recently, direction-of-looking studies have shown that all individuals with
an ASD diagnosis lack implicit ToM: even highly intelligent adults with ASD who
can succeed on explicit ToM tasks by effortful reasoning (Happé, 1994) fail to
look involuntarily towards where another person will mistakenly seek a hidden
object (Senju et al., 2009; Schneider et al., 2013).

34
 The Fuller Picture: Shared Characteristics

yrinere.)
Box 3.1 Examples of test formats commonly used
to assess (a) explicit ToM and (b) implicit ToM

(a) A test of explicit ToM

A doll-sized box and a basket, both with lids/covers, are placed side by side,
a small distance apart.

A doll, ‘Sally; enters, holding a marble.

Sally puts the marble into the basket, replaces the lid, and exits.

A second doll, Ann; enters, goes to the basket, takes out the marble and
places it in the box, replaces both lids, then exits.
Sally returns.

The Tester asks the child: ‘Where will Sally look for her marble?’

To give a correct answer, the individual being tested must consciously and explicitly
know that Sally holds the false belief that the marble is in the basket where she
placed it, and that she will therefore look for the marble in the basket. The individual
being tested must also have sufficient language to understand and to respond to
the test question.

(b) A test of implicit ToM

A mini-movie shown on a computer depicts a person (e.g. a teenage
girl/young woman) facing the camera, looking onto a toy-sized ‘stage’ set
up between them and the camera. There are two boxes on the stage, both
with lids on.
A puppet enters and places a toy in one of the boxes and replaces the lid
before exiting, watched by the girl. For several runs of the mini-film a ‘chime’ is
then heard, after which the girl reaches in to retrieve the toy.
Once it has been established that the individual being tested (the ‘testee’)
automatically (i.e. without thinking/unconsciously) expects the girl to reach
towards the box where the toy is hidden and therefore /Jooks towards that box
when the chime is heard, the film changes, as follows.

After placing the toy in one or other of the boxes, the puppet returns and —
unseen by the girl who has just turned her back to the camera — moves the
toy to the other, previously empty, box, replacing both lids before exiting.
The girl turns round, the chime is heard, and an eye-tracking device on the
computer records the testee’s direction of looking: will they ‘know’ (at some
unconscious level) that because the girl didn’t see the toy being moved she
has a false belief concerning the location of the toy? If so, the testee will
expect the girl to reach into the wrong box, and they will therefore involuntarily
glance at the now-empty box when the chime is heard.

35
What is Autism?

Impaired emotion processing

To understand the pattern of emotion-processing abilities and disabilities in peo-
ple with ASD it is necessary to establish some key terms and concepts. These are
presented in Box 3.2.

Box 3.2 Terms used in the psychological

study of emotion
Affect is a term used by psychologists to mean emotion.

Basic emotions are those that are universal in humans: happiness, sadness,
anger, fear and disgust (surprise is sometimes included). :

Complex emotions are those that are dependent on understanding how oth-
ers see us, for example, pride, guilt, embarrassment.

Emotion contagion aka contagious/affective empathy refers to the most

primitive form of emotion processing, or affect processing, and consists of
the involuntary sharing of others’ basic emotions. Emotion contagion pro-
duces physiological changes such as increased heart rate, or sweating,
which may be accompanied by involuntary behaviours such as laughing or
crying along with the laughter or tears of another person. This ‘infectious
behaviour’ can occur in the absence of knowing what the other person is
laughing or crying about.

Cognitive empathy’ is the term used to describe intuitive knowledge of the

cause or ‘content’ of an experienced emotion: Knowing what the emotion is
about. The fact that experiencing an emotion can be differentiated from know-
ing what the emotion is about is evident from the common experience of waking
in the morning with a sinking feeling but momentarily not knowing the cause of
the feeling (e.g. the exam to be taken, the bad news received the previous day).

Alexithymia is a clinical condition characterised by lack of intuitive knowledge

of the content of one’s own emotions, and inability to identify or describe one’s
own emotions.

Sympathy’ is sometimes used to refer to the desire to take action in response

to the emotions of other people, for example, to alleviate their pain or to soothe
their anger.

The empathising system is a term introduced by Baron-Cohen (2005: 2) to

refer to ‘The ability to identify another person’s emotions and thoughts and to
respond to these with an appropriate emotion: Thus, the system comprises
affective empathy, cognitive empathy, and sympathy, as defined above.

*“Empathy’ and ‘sympathy’ are often used loosely and interchangeably in everyday
speech. Moreover, these terms may be differently defined in other specialist
literatures. The definitions given here are those most commonly used in the autism
literature.

36
 The Fuller Picture: Shared Characteristics

The ability to experience basic emotions is intact in people with ASD: they
smile when they are happy, cry when they are sad, scowl and shout when they
are angry — even if the actual sounds they make, the facial expressions and
bodily gestures they produce, are not always quite like those of other people
(Yirmiya et al., 1989). By contrast, the ability to identify the basic emotions of
other people from their facial expressions is generally impaired, especially for
negative emotions. When others’ facial expressions of emotion are correctly
identified it is generally thought that success is achieved in ways that are qual-
itatively different from neurotypical processing of facial expressions (Harms
evale20lO).
The ability to experience complex emotions, or to identify complex emotions in
others, is impaired (Baron-Cohen, 1991). Understanding complex emotions
such as pride or embarrassment involves ‘seeing ourselves as others see us’, and
people with ASD are not good at doing this (Capps et al., 1992). So, for example,
many adolescents and adults with autism have to be taught that completing a task
successfully may win praise, or that appearing in public in states of undress will
embarrass others.
Emotion contagion/affective empathy has been shown to be unimpaired in indi-
viduals diagnosed with ASD (Blair, 1999; Ben Shalom et al., 2006). Children
with autism are not oblivious to the emotion of others, and one screaming child
in a room full of children with autism will produce signs of arousal and even
distress in the other children. Similarly, experienced teachers will often say
that children with autism whom they teach, even those who are quite severely
learning disabled, are quick to pick up nervousness or apprehension in a novice
teacher and, completely unconsciously, behave in an anxious or disorganised way
as a ‘contagious’ response.
Cognitive empathy, on the other hand, is impaired (Jones et al., 2010; Mazza
et al., 2014). Mandy, for example, one of the children described in the thumbnail
sketches in Chapter 2, does not appear to understand that the child she knocks
over is crying because she is hurt.
Sympathy is also, inevitably, impaired. Because people with ASD do not intui-
tively know what another person’s emotion is about, they do not have the usual
impulse to make an appropriate response. High-functioning individuals with
ASD may consciously work out what another person’s expressions of emotion
are about, and they may act on what they know, consciously, to be an appropriate
response — for example, offering to find a plaster for someone’s bleeding finger.
However, this process lacks the immediacy and intimacy of intuitive cognitive
empathy and sympathy.
The problem of knowing what another person’s emotion is about may extend
to knowing what one’s own emotion is about (Hill et al., 2004; Faran & Ben
Shalom, 2008). This may explain why children with ASD ask questions such
as ‘Did I like it when I went on the bouncy castle?’ or ‘Was I frightened when
I went on the aeroplane?’ They may remember going on the bouncy castle or

37
What is Autism?

the trip on the aeroplane, but have no memory of whether it was frightening or
fun. Inability to identify the content of one’s own emotions causes alexithymia
(Lombardo et al., 2007).
Fuller accounts than can be given here of emotion-processing abilities in ASD
can be found in Gaigg (2012) and Hobson (2014).

Communication impairments
Communication is always, by definition, impaired in people on the autism spec-
trum, including the most able. It could not be otherwise, given that impaired social
interaction is at the heart of autism, and communication is involved in almost
every form of social interaction, as noted in Chapter 2.
It is important to appreciate that both the means of communication used by
humans, and also the rules for engaging in communicative episodes, are impaired.
The means of communication are language — whether spoken, written, signed,
or conveyed in some other way — and nonverbal signals including facial expres-
sions, body orientation and movements, gestures, and vocalisations such as
laughing or crying. Speech prosody, i.e. the acoustic patterns of pitch, rhythm,
etc. that help to convey meaning, as well as conveying states of mind and the
emotions of speakers, may also be considered a form of communication (see
Box 4.2). Language is sometimes but not always impaired across the spectrum.
By contrast, the understanding and, to a lesser extent, the use of nonverbal
communication signals is invariably impaired (Spezio et al., 2007; Peppé et al.,
2011; Watson et al., 2013).
The rules and conventions for using language and nonverbal communication sig-
nals to communicate come under the heading of pragmatics (Leinonen et al., 2000;
Perkins, 2007). Pragmatics is invariably impaired across the spectrum (for a short
review, see the section on ‘Language Use’ in Kim et al. (2014). Some examples of the
kinds of pragmatic impairments commonly observed in people with ASD are given
in Boxi3.3,
Mutism In addition to the communication impairments that are universal in
people with ASD, a communication impairment called selective or elective
mutism occasionally co-occurs with autism. In this condition, which is not con-
fined to people with ASD, the individual understands at least some spoken
language, and in some cases may speak in some environments and situations,
but not in others. So, for example, a child may speak at home but not at school;
or with adults but not with other children. Selective/elective mutism is gen-
erally an anxiety-related or phobic condition (Cline & Baldwin, 2004). A rare
minority of individuals with ASD have a form of mutism that appears to result
from a physical difficulty in initiating and/or co-ordinating actions required for
language output, regardless of whether speech, writing, signing or typing is used
(Rapin, 1996). People with this kind of pervasive mutism can understand at
least some spoken (and possibly written) language, but can only express them-
selves nonverbally.

38
 The Fuller Picture: Shared Characteristics

Box 3.3 Examples of pragmatic impairments

in people with ASD
Inappropriate topic initiation and topic maintenance, e.g. introducing a novel
topic midway through a conversation and without warning; talking repetitively
about their preferred topic even if their interest is not shared; not responding
to a question; repeating questions which have already been answered.

Lack of conversational ‘coherence’, e.g. failing to identify what or whom they

are talking about; recounting events in a disconnected order; making remarks
that are irrelevant to the ongoing conversation.

Failure to take account of ‘where the other person is coming from’, e.g. recount-
ing the story of a film to someone who they know has seen it; failure to modify
their conversation when talking to a teacher as opposed to a classmate; making
tactless and/or personal remarks.

Poor ‘conversational rapport’, e.g. ignoring conversational approaches from

others; not paying attention when someone is talking to them; not looking at the
person they are talking to.

Repetitiveness, e.g. using ‘favourite’ words, phrases or sentences, regardless

of appropriacy; turning conversation to certain preferred topics and repeating
information or views they have aired many times previously.

Restricted, Repetitive Behaviours and

Sensory-Perceptual Anomalies

Restricted, repetitive behaviours

Two broad categories of restricted, repetitive behaviours (RRBs) are generally
recognised: ‘repetitive sensory-motor stereotypies’ (RSMs) and ‘insistence on
sameness’ (IS). RSMs referred to in DSM-5 can affect movements (e.g. hand-
flapping), use of objects (e.g. lining up toys), or speech (e.g. echolalia). One
important form of RSM not mentioned in DSM-5 is self-injurious behaviours
(SIBs), such as head banging, eye-poking, or hand-biting. Forms of IS identified in
DSM-5 cover a wide range of behaviours, all of which serve to effectively reduce
novelty and promote predictability in the individual’s immediate environment
and experience.
It is recognised in DSM-5 that RRBs tend to change over time. For example,
RSMs such as hand flapping or SIBs are common in young children with
ASD but less common in adults, except those who are very low-function-
ing. Similarly, echolalia is quite common in young children but less common
in adults, except those with very little language. Older as well as more able
people with ASD are more likely to have IS behaviours which have adaptive
value for the individual. So, for example, the habit of lining up toys may be
replaced by routines such as always putting on clothes in the same order, or laying

39
What is Autism?

the family meal table in exactly the same way. Similarly, as comprehension
improves, echolalia may be replaced by use of formulaic phrases and mono-
loguing on a preferred topic (forms of IS). So the repetitiveness remains, but is
manifested in different ways.
Sensory-perceptual anomalies
Sensory information may be understood as raw, or unelaborated, data from the
senses, in contrast to perception, which involves the elaboration and interpreta-
tion of sensory data — making sense of it. Sensation and perception are, however,
so closely linked and interactive, including top-down influences from perception
to sensation as well as bottom-up input from sensation to perception, that for
present purposes the two will not be differentiated. In Chapter 9, however, where
possible causes of sensory-perceptual anomalies in autism are considered, the dis-
tinction will sometimes be made. <
First-hand accounts of what it is like to be autistic invariably emphasise prob-
lems to do with the processing of sensory-perceptual information. Some excerpts
from first-hand accounts are shown in Box 3.4.
Impairments and anomalies of sensation in people with ASD have been demon-
strated in research studies and are frequently commented on by parents and carers.
Summaries of observations across the senses are given below.
Hearing The prevalence of hearing impairment in ASD is uncertain, with some
studies showing increased prevalence, while others report negative findings (Beers
et al., 2014). People with intellectual disability, with or without autism, have
higher rates of hearing impairment than the general population (McClimens et al.,
2015), which may help to explain the discrepant findings on hearing loss across
the spectrum in ASD.
Apart from increased incidence of hearing impairment (at least in less able people
with ASD), certain hearing anomalies occur, corresponding to some of those
reported in first-hand accounts (see Box 3.4). In particular, increased sensitiv-
ity to sound, or hyperacusis, is quite frequently observed in people with autism
(Rosenhall et al., 1999). Particular sounds may become the focus of a phobic
resistance to certain places or situations, such as travelling on the underground,
or going to an event where fireworks may be let off. Whether or not hyperacusis
is, strictly speaking, a hearing problem is, however, open to question (Stiegler &
Davis, 2010). Similarly, reported difficulties in discriminating speech against back-
ground noise (Alcantara et al., 2004) may possibly be ascribed to an abnormality
of attention as opposed to a hearing anomaly. Certain facets of the perception of
sound may be better than those of ordinary people of similar age. For example,
people with ASD have a better sense of musical pitch than people in the general
population (Heaton et al., 1998).
Vision Visual impairment in the sense of decreased visual acuity is relatively
common in people with ASD (Pring, 2005). Certain anomalies of vision and
visual perception also occur, as in the case of hearing. In particular, peripheral
vision may be utilised to an unusual extent (Lord et al., 2000). Over-sensitivity

40
 The Fuller Picture: Shared Characteristics

Box 3.4 First-hand accounts of sensory-perceptual

experiences in very high-functioning individuals
with autism-related characteristics
Darren White (quoted in White & White, 1987: 224) ‘I was rarely able to hear
sentences because my hearing distorted them. | was sometimes able to
hear a word or two at the start and understand it and then the next lot of
words sort of merged into one another and | could not make head or tail of
_ it.... Sometimes when other kids spoke to me | could scarcely hear them,
and sometimes they sounded like bullets. | thought | was going to go deaf.
| was also frightened of the vacuum cleaner, the food mixer and the liquid-
iser because they sounded about five times as loud as they actually were.
Life was terrifying...’

John van Dalen (quoted in Boucher, 1996: 84, 85) ‘My way of perceiving
things differs from that of other people. For instance, when | am confronted
with a hammer, | am initially not confronted with a hammer at all but solely
with a number of unrelated parts: | observe a cubical piece of iron near toa
coincidental bar-like piece of wood. After that, | am struck by the coinciden-
tal nature of the iron and the wooden thing resulting in the unifying percep-
tion of a hammerlike configuration. The name “hammer” is not immediately
within reach but appears when the configuration has been sufficiently sta-
bilised over time. Finally, the use of a tool becomes clear when | realise
that this perceptual configuration known as a “hammer” can be used to do
carpenter’s work.’

Temple Grandin (Grandin & Scariano, 1986: 32) ‘Wool clothing is intolerable for
me to wear... . | dislike nightgowns because the feeling of my legs touching
each other is unpleasant’

Jim Sinclair (reported in Cesaroni & Garber, 1991) ‘Sometimes the channels
get confused, as when sounds come through as colour. Sometimes | know that
something is coming in somewhere, but | can’t tell right away what sense it’s
coming through.
Donna Williams (Williams, 1994: 22) ‘In my dark cupboard ... the bombard-
ment of bright light and harsh colours, of movement and blah-blah-blah, of
unpredictable noise and the uncontrollable touch of others were all gone.
Here there was no final straw to send me from overload into the endless
void of shutdown,’

to visual stimuli also occurs. For example, some people with ASD prefer to
watch television with the brightness turned down. Impaired processing of
visual motion (seen movement) has been reported in several studies (Gepner &
Mestre, 2002; Milne et al., 2005). Visual detail may be perceived in place of
whole objects or scenes, making the perception of whole objects effortful and
slow, as described by John van Dalen in Box 3.4. However, good perception of
detail has some advantages: for example, it enables people with ASD to notice

41
What is Autism?

small changes in familiar surroundings, and to outperform people without

autism in certain psychological tests. Further evidence of the processing of
detail as opposed to wholes will be presented and discussed in Chapter 9.
A comprehensive review of research on visual processing in ASD can be found
in Dakin and Frith (2005).
Taste, smell and touch ‘Hypersensitivity to taste, smell and/or touch is not uncom-
mon, according to parental reports and first-hand accounts. One girl with autism
commented that nearly everyone has bad breath (Stehli, 1992). A child I worked
with had a habit of approaching strangers and putting her face close to theirs in
order to sniff them.
Pain Sensitivity to pain, on the other hand, is generally considered to be low,
making people with ASD vulnerable to injury, and it has been suggested that
self-injurious behaviours are experienced as pleasurable self-stimulation, rather
than as painful (Allely, 2013). However, see Moore (2014) regarding incidents of
hyper- rather than hypo-sensitivity.
Synaesthesia and overload Information from the various senses may be confused,
as in the condition known as synaesthesia, where, for example, sound may be
perceived in terms of colour, or colours may be perceived in terms of taste and
smell (Baron-Cohen et al., 2013). Information arriving from the different sensory
channels can also be experienced as confusing to the point of being overwhelming,
as vividly described in the last quote in Box 3.4.
Over-focused attention Wendy Lawson, a very able person with ASD, has
suggested that people with ASD have monotropic attention, in the sense of
only being able to attend to a limited range of sensory inputs at any one time
(Murray et al., 2005). This suggestion is consistent with early studies reporting
over-selective attention in people with ASD (Rincover & Ducharme, 1987) and
is also consistent with some of the superior abilities noted above, such as unu-
sual sensitivity to musical pitch and to visual detail. It might also help to explain
why complex or multi-sensory inputs are experienced as confusing and over-
whelming, leading to the defensive reaction of shutdown referred to by Donna
Williams (Box 3.4) and endorsed in many other first-hand accounts. However,
an understanding of the precise nature of processes associated with attention in
ASD has proved elusive (Ames & Fletcher-Watson, 2010).
Comprehensive reviews of evidence on sensory-perceptual processing in
people with ASD can be found in Iarocci and McDonald (2006) and Baranek
et al. (2014).
Links between sensory-perceptual anomalies and repetitive
restricted behaviours
The inclusion of sensory anomalies within the set of RRBs in DSM-5 was based
on research showing that repetitive behaviours and sensory anomalies in ASD are
related. This relationship had, in fact, been noted and discussed decades ago (see,
for example, Hutt et al., 1964; Ornitz, 1976; Zentall & Zentall, 1983), but then
dropped below the threshold of most researcher/theoreticians’ attention until

42
 The Fuller Picture: Shared Characteristics

around the turn of the century. At that time, a review of sensory anomalies in
ASD by O'Neill and Jones (1997) and empirical studies by Gal et al. (2002) and
others brought this relationship back under the spotlight.
These researchers concluded that individuals who frequently engage in repetitive
sensory-motor stereotypies (RSMs) may do so either to mitigate over-stimulation —
‘sensory soothing’ — or to compensate for under-stimulation — ‘sensory seeking’.
Subsequent research studies confirmed the relationship between RSMs and hyper-
or hypo-sensitivity to sensory stimuli (e.g. Gabriels et al., 2008; Boyd et al., 2010).
Other studies established relationships between hyper-sensitivity and anxiety
(Pfeiffer et al., 2005; Green & Ben-Sasson, 2010; Green et al., 2012), and between
anxiety and insistence on sameness (IS) (Spiker et al., 2011; Rodgers et al., 2012;
Lidstone et al., 2014).

SOME ADDITIONAL SHARED

CHARACTERISTICS
Imagination and Creativity: Strengths and Weaknesses

Data from the influential ‘Camberwell Study’ (see Box 2.3) showed that all chil-
dren on the autism spectrum had ‘impaired social interaction, communication,
and imagination’. The impairment of imagination was hypothesised to entail an
impairment of creativity, with the net result that behaviour in autism is abnor-
mally repetitive and restricted in character. RRBs and ‘impaired creativity’ were,
therefore, conceived as two sides of the same coin. Although attention has shifted
towards emphasising RRBs, as opposed to problems of imagination and creativity,
it is not in reality possible to separate one from the other. In what follows, there-
fore, some examples of impaired imagination and creativity are briefly outlined.
Pretend play
Children’s pretend play, or ‘pretence’, is generally considered to be of two distinct
kinds. The simpler, earlier-occurring kind of pretence involves play with miniature
versions of real objects (e.g. moving a dinky car along the floor as if being driven;
combing a doll’s hair with a toy comb). This kind of play is generally known as
functional pretend play/pretence. The later-occurring, more imaginative kind of
pretence involves using objects as if they were something else (e.g. a stick as a gun;
a broom as a ride-on horse), or behaving as if something were present or happen-
ing, when the imagined thing or event is absent (e.g. pretending to drink from an
imaginary cup; pretending to be afraid of an imaginary lion; pretending to be a
lion). This is sometimes called symbolic pretend play/pretence.
Early clinical observation of children with autism suggested that symbolic
play is impaired (Wing et al., 1977), an observation subsequently confirmed in
numerous experimental studies (see reviews by Jarrold et al., 1996; Jarrold et al.,
2003). So, for example, typically developing children presented with a toy car

43
What is Autism?

plus a cardboard box or a matchstick and encouraged to ‘Show me what you

could do with these’ often ‘drive’ the car into ‘the garage’; or ‘park’ the car beside
the ‘petrol pump’ to ‘get petrol’. By contrast, children with ASD are more likely
to pick up the car and put it onto or into the box, or place the car and the match-
stick side by side (Lewis & Boucher, 1988). By the time DSM-IV was published
in 1994, impaired symbolic play was included as one type of aberrant behaviour
indicative of autism.
Functional pretend play is, by contrast, consistent with mental age. Moreover,
in their tests of pretend play, Lewis and Boucher (1988) found that if children
with ASD were instructed to ‘drive the car into the garage’ they turned the box
onto its side and moved the car along the ground towards and into the box — just
as children without ASD had done spontaneously when asked to ‘Show me what
you could do with these’. Similarly, if instructed to ‘make the car get.petrol’ they
held the matchstick on its end and ‘parked’ the car close up beside it. This inability
to access ideas for, or to initiate, behaviour is referred to again in Chapter 9, in the
section on RRBs.
Imagining the ‘unreal’ or ‘impossible’
‘Imagination’ in its most basic sense of ‘being able to think about, or to envisage,
things that are unreal or impossible’ has also been shown to be impaired. For
example, one well-known test of this ability asks the person being tested to change
some detail of a picture of a house to make the picture ‘unreal’ or ‘impossible’
(e.g. by putting the front door at first-floor level, or showing a chimney extend-
ing horizontally from the side of the house). Studies by Scott and Baron-Cohen
(1996) and by Low et al. (2009) showed that children with autism are impaired
on this task.
Imagining something that conflicts with reality is also involved in counterfac-
tual reasoning. This kind of reasoning involves imagining how things might have
been if A had not happened (‘If 1 had not gone out in the rain I would not have
got wet’), or if B had happened (‘IfIhad taken an umbrella I would not have got
wet’). Impaired counterfactual reasoning was at one time thought to offer a pos-
sible explanation of the failure of people with autism to pass explicit false belief
tasks. However, the handful of studies that have tested counterfactual reasoning in
autism suggest that this kind of imagining does not constitute a major problem, at
least for higher-functioning individuals (see, for example, Scott et al., 1999; Begeer
et al., 2009).
Generativity
The term generativity as used by psychologists refers to the ability to produce
‘out of one’s head’ numerous varied and original words, drawings, ideas, etc.
Generativity is commonly assessed using ‘fluency’ tests. These could involve ask-
ing someone to shut their eyes and say as many single words as they can within
a given time — a test of verbal fluency; or asking them to ‘draw as many different
things as you can’, testing design fluency; or asking someone to name as many
uses of a brick or a piece of string as they can think of, assessing ideational
fluency. Generativity is impaired in people with ASD when using the above

4a
 The Fuller Picture: Shared Characteristics

SPeedometexr

dais cuniecg "Fued ayo es ®

meter

Figure 3.2 A series of drawings by a boy with autism in response to requests

to ‘Draw something different from what you drew before’, showing the
tendency to produce a run of related pictures. In this case, the pictures are
related by both category and shape

type of ‘open’, or ‘non-prompted’ instruction; but is not impaired when a cue

is provided, such as ‘words beginning with /f/’, or ‘names of animals’ (Boucher,
1988; Turner, 1999). Similarly, if the instructions for generating drawings do not
stress that each new drawing should be ‘quite different’ from previous drawings,
children with ASD can produce categorically related (e.g. different vehicles, or
different fruits) or perceptually related (e.g. circular objects such as a face, a
lollipop, a sun, a ball...) drawings as readily as children without autism (Lewis &
Boucher, 1991; Liu et al., 2011) — see Figure 3.2.
Generativity is closely related to creativity, and despite experimental evidence
of impaired generativity, some striking examples of spared generativity/creativ-
ity have been reported. For example, Hermelin and colleagues (summarised in
Hermelin, 2001) reported improvisational ability in low-functioning individuals
with ASD who could play the piano. Hermann et al. (2013), as well as Kasirer
and Mashal (2014), have shown that adults diagnosed with ‘Asperger syndrome’
can generate novel metaphors better than their neurotypical peers. Examples of
metaphors generated by these able individuals included comparing a feeling of
success to ‘Seeing the view from a mountain top’, and a feeling of sadness to
‘Offering a salad to someone from South America’(!). A poem written by a very
high-functioning adult with ASD is reproduced in Box 3.5, partly to demonstrate
unusual creative language ability, but also because the poem is so moving in itself.
It is rightly well known, being frequently reproduced on the internet.

45
What is Autism?

Box 3.5 ‘The Bridge’ — by Jim Sinclair .

| built a bridge
out of nowhere, across nothingness
and wondered if there would be something on the other side.
| built a bridge
out of fog, across darkness
and hoped that there would be light on the other side.
| built a bridge
out of despair, across oblivion
and knew that there would be hope on the other side.
| built a bridge
out of helplessness, across chaos
and trusted that there would be strength on the other side.
| built a bridge
out of hell, across terror
and it was a good bridge, a strong bridge,
a beautiful bridge.
It was a bridge | built myself,
with only my hands for tools, my obstinacy for supports,
my faith for spans,
and my blood for rivets.
| built a bridge and crossed it,
but there was no-one there to meet me on the other side.

(from Cesaroni & Garber, 1991)

Generalisations about ‘lack of creativity and imagination’ must also be

tempered by the fact that some of the most creative people that the world has
known — including scientists, musicians, philosophers and mathematicians — have
had autism-related behavioural traits, and it has been speculated that some might
have qualified for a DSM-IV diagnosis of ‘Asperger syndrome’. As Lyons and
Fitzgerald (2013) point out in an extended review of ‘special gifts and talents’
in people with autism: ‘A significant challenge to ... perceived lack of creativity
is the enormous achievement that some people with ASD show in creative and
scientific fields.’
Examples of notably spared abilities, some occurring across the large majority or
all individuals on the spectrum, some occurring only in rare, exceptional individuals,
are considered next.

Islets of Ability

Relatively spared abilities across the spectrum

Uneven abilities are characteristic of people with autism across the spectrum.
Even people with very low-functioning autism have some ‘splinter skills’, or islets

46
 The Fuller Picture: Shared Characteristics

of relatively good ability — ie. things they can do significantly better than would
be predicted by their overall level of functioning, even if not completely normally.
Pairs of closely related spared and impaired abilities are referred to in the
autism literature as fine cuts. Fine cuts are theoretically important because they
are informative about the causes of autism: if skill A is impaired but closely related
skill B is unimpaired, this narrows down possibilities concerning the cause of the
impairment of skill A. In what follows, some fine cuts are identified within the
domains of social interaction, communication and cognition.
Spared social interaction ability: Attachment An important area of predominantly
spared social ability is attachment. Attachment, as used in psychology, refers to
the emotional bond between two people, especially between young children and
their primary carers. Several studies have shown that young children with autism
generally do form attachments to their primary carers, although there are some
differences in the ways in which attachment is expressed, and less able children
with ASD are less securely attached than more able children (Rutgers et al., 2004;
Grzadzinski et al., 2014). Adults with ASD are less likely than neurotypical adults
to form secure attachment relationships, but a minority do form such relation-
ships. Moreover, adults with ASD are no less likely to form secure attachments
than are adults with other mental health disorders (Taylor et al., 2008). The fact
that attachment is frequently spared in people with ASD, at least in children,
contrasts sharply with their social interaction impairments more generally.
Spared communicative ability: Protoimperatives Most individuals with autism,
again excluding those who are most profoundly intellectually impaired, will com-
municate wants and needs intentionally, whether by using language, or by gesture
(pointing to something they want), or by manipulating another person’s hand
towards a desired object or to carry out a desired action such as opening a door.
Pointing at, or otherwise indicating, a desired object or action is called protoimper-
ative pointing, because it constitutes a demand. Protoimperative or ‘demand’
communication contrasts with protodeclarative communication in which the
intention is to share something of interest, as in Figure 3.1.
Spared cognitive abilities: Rote memory, fitting and assembly tasks, mechanical
reading There are numerous spared, or relatively spared, cognitive abilities com-
mon to most or all individuals with ASD. Some of these were noted in the earliest
descriptions of autism and included in some early definitions (see Chapter 1).
In particular, rote memory is generally spared, as is evident from children with
ASD’s good echoing ability, and their ability to memorise advertising jingles or
tunes or (if able to acquire language) the words of songs or prayers. According
to Miller (1999), rote learning is characterised by (i) primary concern with the
physical aspects of a stimulus; (ii) high-fidelity representation of the original infor-
mation; and (iii) little if any reorganisation of the information.
Spared, or relatively spared, visual-spatial reasoning and constructional
skills — sometimes referred to as fitting and assembly tasks - are also well
known, and occur even in individuals with profound learning difficulties and
ASD (DeMyer et al., 1974).

47
What is Autism?

‘Mechanical reading’, or hyperlexia, is another well-known peak ability (although

some individuals with autism are dyslexic — see Chapter 4). In people with lower
functioning autism, hyperlexia takes the classic form of an ability to read individual
words accurately with no understanding of their meaning. In people with higher
functioning autism, hyperlexia manifests as mechanical reading that is superior to
reading comprehension (Grigorenko et al., 2002; Nation et al., 2006). Both hyper-
lexia and also hypercalculia were reported in a study by Jones et al. (2009).
Spared abilities in rare, exceptional individuals
A small minority of individuals on the autism spectrum have abilities that are very
significantly superior to their overall level of function, and also significantly supe-
rior to abilities found in the general population. These rare individuals are referred
to as savants, and their special talents are referred to as savant abilities (Hermelin,
2001; Happé & Frith, 2010; Treffert & Tammet, 2011). Most frequently, savant
abilities involve feats of visual or musical perception and the exact reproduction
of what has been seen or heard (Pring, 2008; Mottron et al., 2009); or feats involv-
ing estimation (of number, size, weight, etc.) or numerical calculation (Thioux
et al., 2006; Souliéres et al., 2010). Occasionally, however, some unusual form of
savant ability occurs, as in the case of ‘Grace’, described in Box 3.6.

Box 3.6 ‘Gra ce’:A young woman with a

special talent for humour
Grace is a woman whose autism and moderate intellectual disability are combined
with a striking capacity for verbal humour. Humour is not generally considered to
be characteristic of people with ASDs, let alone jokes based on word-play, which
makes Grace all the more unusual. Examples of her jokes are shown below.

Puns
‘Here’s the weavery looming up’ (on approaching the weaving centre when show-
ing a visitor around her residential village).
‘Smashing windows’ (when asked to write in a local church Visitors’ Book).

Riddles
Question: ‘What does the ant aerial get called?’ Answer: Antenna:
Question: ‘What happens if a boa constrictor argues with another boa constrictor?’
Answer: A boa war.

Nonsense talk
(Describing two train passengers who were sitting when Grace had to stand, which
she resented): ‘There was a man chatting to a colly-girl with miniscule lips and
sloping bum, while womping through a burger. God! | thought he was going to burst
his trouser-buttons!’

(From Werth et al., 2001)

48
 The Fuller Picture: Shared Characteristics

Comment
In high-functioning people with autism, spared and sometimes superior abili-
ties greatly outnumber behavioural impairments and underlie the ability to live
independently, to earn a living, and sometimes to achieve significant success in a
particular field.
In low-functioning individuals, islets of ability, whether in the form of relatively
spared abilities or in the form of savant abilities, provide possibilities for com-
pensatory mechanisms, and may be maximised in ways that enable individuals to
achieve success on tasks that they might otherwise struggle with. Spared abilities
of any kind also enhance identity (‘This is what I CAN do!’); and savant abilities
may sometimes be harnessed (usually by a parent or other family member) to earn
money for the individual, and even fame! .

Motor Skills: Strengths and Weaknesses

‘Motor skills’ refer to body movement. The term covers a wide range of abili-
ties involving not only nerves and muscles, but also an internalised self-image,
or body schema, derived from proprioceptive and kinaesthetic awareness; also
complex psychological processes of planning, temporal organisation and control.
Fine motor skills, such as are involved in, for example, doing up buttons, typing
or tap-dancing, involve a different set of underlying abilities from gross motor
skills, such as walking or climbing stairs. Balance is important for some kinds of
motor skills (e.g. riding a bike); hand-eye co-ordination for others (catching a
ball). Well-learned, unconsciously executed movement patterns such as doing
up buttons or climbing stairs utilise a partly different set of abilities from those
required for novel willed actions such as fashioning a clay figure or negotiating
an obstacle course.
Motor abnormalities of one kind or another are probably universal in ASD
(Fournier et al., 2010; Bodison & Mostofsky, 2014). Gowen and Hamilton (2013)
review available evidence relating to school-age children and adults, and report the
following commonly observed impairments:

Muscular abnormality: reduced muscle tone, technically referred to as hypotonia.

Gross motor skills: unstable balance; impaired gait (people with ASD tend to walk
clumsily and are poor at running); toe-walking (walking on the balls of the feet with the
heels raised) is common in early childhood, and sometimes persistent; reduced co-
ordination of locomotor skills (e.g. running to kick a ball).

Fine motor skills: slower than average repetitive hand or foot movements; slower and
less than normally accurate movement alternation, for example, alternately flexing and
extending an arm, or articulating the speech sounds /b/ and /k/ in rapid succession,
poor ball skills (aiming and catching).

In addition to the above, various forms of dyspraxia have been reported, with
higher rates (up to 75 per cent) in lower- as opposed to higher-functioning
individuals (Dzuik et al., 2007; MacNeil & Mostofsky, 2012}. Dyspraxia is an

49
What is Autism?

impairment of voluntary movement in the absence of hypotonia. It can differ-

entially affect the limbs, hands or mouth areas. Someone with limb dyspraxia
or apraxia may, without thinking, scratch the back of their neck if it itches, but
have great difficulty in voluntarily bringing a brush or comb into contact with
the back of their head to tidy their hair. Similarly, someone with oral apraxia
may blow out a match or lick an ice-cream without thinking, but if asked to
copy someone rounding their lips to make the sound ‘oo’, or if instructed to
stick their tongue out, they struggle to achieve these movements voluntarily.
Limb dyspraxia may contribute to the clumsiness commented on earlier in the
chapter; and oral and manual dyspraxia contribute to language output problems
(speech or manual signing) in some individuals (Seal & Bonvillian, 1997; Page &
Boucher, 1998; Gernsbacher et al., 2008).
The ability of people with ASD to imitate movements has frequently been ques-
tioned. However, in a review of the evidence, Vanvuchelen et al. (2011) conclude
that impaired imitation is not a universal characteristic of people with ASD, nor —
when it does occur — is it specific to people with ASD (i.e. impaired imitation
can occur with other conditions). It is probably the case, however, that one par-
ticular kind of imitation is universally affected in, and specific to, people with
autism. Thus, a meta-analysis of studies of imitation in people with autism sug-
gested that while object-oriented actions (such as pointing to a picture or picking
up a spoon) are generally spared, the imitation of bodily actions not involving
an object (such as touching one’s nose with a finger or pulling a face) is severely
impaired (Williams et al., 2004; Colombi et al., 2012). Similarly, acting on objects
in ways that involve relationship with the body (e.g. holding a music box close
to one ear) was shown to be impaired in a study by Meyer and Hobson (2004).
Stewart et al. (2013) suggest that this kind of imitation impairment derives from a
deficit in self-other equivalence mapping (‘I must do to my nose what you did to
your nose’; ‘I must hold the music box up to my ear like you held it to your ear’).
Strictly speaking, therefore, any universal and ASD-specific imitation impairment
should not be seen as a movement problem, but rather as a problem associated
with sense of self, and perhaps of appreciating equivalences between ‘self’ and
‘other’ (see below).
Despite the common — probably universal — occurrence of motor abnormalities
of one kind or another in people with autism, some aspects of motor functioning
are relatively unaffected in most individuals, and peaks of motor skill are occasion-
ally observed. For example, Wing (1996) reported that some young children with
autism, including some who are not particularly able, may be agile climbers with
excellent balance and no apparent fear of heights (with potentially scary impli-
cations for parents and carers). Indeed, Kanner’s (1943) original paper included
reports of individual children with autism spinning objects skilfully and climbing
‘gracefully’. Impaired and spared motor abilities often co-exist in the same indi-
vidual. For example, Leary and Hill (1996) noted that ‘the [autistic] individual
who typically experiences severe difficulties with the most simple of movements
may suddenly perform complex, skilled movements’. Similarly, Rinehart et al.
(2006) reported that a less demanding motor task was worse performed than
more demanding tasks, even by participants with an Asperger syndrome diagnosis.

50
 The Fuller Picture: Shared Characteristics

Impaired Sense of Self

An ‘apparent lack of personal identity’ was listed in one of the earliest attempts
to identify essential features of autistic behaviour (Creak, 1961 — see Box 1.2).
However, interest in possible impairment of self-concept, or sense of self, lapsed for
nearly three decades, possibly because impaired sense of self appears — superficially —
incompatible with the egocentricity and self-absorption that give ‘autism’ its name.
Moreover, studies showed that children with autism recognise themselves in a mir-
ror at about the same age as children without autism, if overall ability is taken into
account (Dawson & McKissick, 1984; Spiker & Ricks, 1984). This was, again mistak-
enly, taken as evidence of intact sense of self.
However, studies by Hobson and colleagues in the 1990s (Hobson, 1990,
1993; Lee & Hobson, 1998; see also Hobson et al., 2006) showed that although
children and adolescents with mid- to lower-functioning autism could answer
questions about their own physical attributes, their activities and abilities, they
were impaired in their responses to questions about themselves as social beings,
where it is important to be aware of how others see us. Hobson and colleagues
interpreted their findings in terms of an impaired ‘interpersonal self’. Also during
the 1990s, Powell and Jordan (1993) suggested that people with ASD lack an
‘experiencing self’ that provides a personal dimension to ongoing events — the
feeling that ‘I am doing this’, or ‘I was there at the time’. Frith (2003) also noted
the loss or impairment of an experiencing self, in her ‘absent self’ theory.
Increasing support for the suggestion that people with ASD, including the
most able, have an impoverished sense of themselves comes from demonstrations
of alexithymia, mentioned above; also from reports of impaired autobiograph-
ical memory (Crane & Goddard, 2008; Crane et al., 2009; Lind, 2010), and of
the diminished salience of self-referential vocabulary (Lombardo et al., 2007;
Yoshimura & Toichi, 2014). For extended reviews of the complex field of sense of
self and its relation to sense of others in people with ASD, see Gallagher (2004),
Lombardo and Baron-Cohen (2011) and Uddin (2011).

SUMMARY
Diagnostic criteria for ASD offer a ‘bare bones’ description of the core behaviours
(SEC impairments and RRBs) necessary for a diagnosis of ASD to be made. A
great deal more is known about these core behaviours — their individual compo-
nents, their earliest manifestations and later trajectories — than can be stated in a
diagnostic manual.
Within the group of SEC impairments, social interaction impairments are first
evident as impaired dyadic relating; early forms of triadic social interaction,
such as protodeclarative pointing and joint attention, are then affected, as are
both implicit and explicit forms of theory of mind. Regarding emotion process-
ing, the experience and expression of basic emotions is spared, as is ‘contagious’
or ‘affective’ empathy, whereas the experience and expression of complex

51
What is Autism?

emotions, and also ‘cognitive empathy’ and ‘sympathy’, are impaired. Regarding
communication, both the means of communicating, especially nonverbally, and
the rules for engaging in communication (‘pragmatics’) are impaired.
Within the set of RRBs, repetitive sensory-motor stereotypies (RSMs) tend to
occur in younger or less able individuals with ASD, whereas insistence on same-
ness (IS) is more common in older and more able individuals. Sensory anomalies
include heightened sensitivity to sound, taste and smell, but reduced sensitiv-
ity to pain. Perceptual abnormalities may include synaesthesia and monotropic
attention. It has been suggested that RSMs may be responses either to excessive
stimulation or to under-stimulation. IS has been linked to high levels of anxiety,
which in turn may be a response to hypersensitivity and excessive stimulation.
Certain other facets of behaviour are almost certainly universally affected in
individuals with ASD, adding to the range and complexity of shared characteris-
tics across the spectrum. In particular, imagination and creativity, motor skills and
sense of self are all impaired in certain ways or in certain circumstances, but not
in others. In addition to these typically uneven capacities and characteristics, islets
of ability occur, sometimes in the form of ‘fine cuts’, or as some relatively spared
skill in an otherwise severely learning disabled individual, or — more rarely — as a
true ‘savant’ ability.

52
 THE FULLER PICTURE:
SOURCES OF DIVERSITY

INTRODUCTION

MAJOR SPECIFIERS
Learning Disability
Language Impairment

MINOR SPECIFIERS
Comorbid Physical and Medical Conditions
Mental Health Problems
Neurodevelopmental Problems
Behavioural Problems

INDIVIDUAL DIFFERENCES

SUMMARY
What is Autism?

AIMS |
The aim of this chapter is first to ensure an appreciation of the fact that people on
the spectrum are more different from each other than they are alike; and secondly
to ensure that the sources of these differences are fully appreciated.

INTRODUCTION
The DSM-5 ‘Determiners’ (see Chapter 2) are of critical importance in under-
standing ways in which subsets of people on the spectrum differ from,each other.
The first Determiner relates to the severity of each individual’s SEC impairments
and RRBs. Clear descriptions of the different degrees of severity characterising
autism across the spectrum are given within the set of DSM-5 criteria reproduced
in Box 2.1. In addition, examples of actual behaviour that might contribute to a
diagnosis of ASD in a child with severe autism as compared to a child with rel-
atively mild autism were provided towards the end of Chapter 2. Nothing more
will be said in the present chapter concerning differences in severity. However,
these differences are clearly crucial to understanding the ways in which people on
the spectrum differ from each other.
The second Determiner included in DSM-5 is the set of possible specifiers. The
most commonly occurring specifiers are:

e Learning disability.
e Language impairment.

These are listed in DSM-5 but not described in detail. Accounts of what are here
referred to as the ‘major specifiers’ therefore form the bulk of this chapter.
There are, in addition, many other specifiers which, by their absence, or by their
presence and range of severity, contribute to diversity among individuals on the
spectrum. The majority of these additional specifiers fall under one or another of
the following headings:

e Comorbid physical and medical conditions.

e Mental health problems.
e Neurodevelopmental conditions.
e Behavioural problems.

Brief accounts of several minor specifiers are included under these subheadings.
Finally, there is a short section emphasising the importance of individual
differences in contributing to the diversity and individuality among people
with ASD.

54
 The Fuller Picture: Sources of Diversity

MAJOR SPECIFIERS
Learning disability and language impairment affect over half of those diagnosed
autistic in the UK (Charman et al., 2010). For affected people themselves and
those who care for them, these impairments can be more disabling and of more
concern than the SEC impairments and RRBs. It is appropriate, therefore, to
describe these disabilities first and in some detail. Specifiers coming under the
heading of ‘known medical or genetic condition or environmental factor’ may
also be of major significance to individuals and their families. However, such con-
ditions are diverse and individually rare, and are considered more briefly under
the heading ‘Minor specifiers’.

Learning Disability

Learning ability may be analysed and described in two ways: first, in terms of
‘intelligence’ as assessed by standardised! intelligence tests (Mackintosh, 2011);
and secondly, in terms of cognitive abilities such as attention, perception, memory
and reasoning (Sparrow & Davis, 2000). Most of what is known about learning
disability in people with ASD comes from studies of ‘intelligence’. For this rea-
son, some basic information about concepts of ‘intelligence’ and about methods
of assessment is given first, followed by a section on what is known about the
strengths and weaknesses of intelligence in people across the spectrum. Less is
known about the cognitive strengths and weaknesses of learning disabled people
with ASD, most research into cognitive abilities in autism having been carried
out with high-functioning individuals. A brief subsection on cognitive abilities in
lower-functioning individuals follows the discussion of intelligence.
Intelligence and intelligence tests
We all know what we mean when we say that someone is ‘bright’ or ‘not so bright’.
However, actually pinpointing what it is that makes people more or less intelli-
gent is very difficult, and psychologists have argued about this for over a century
(Mackintosh, 2011). Nevertheless, many intelligence tests are based on a broad
distinction between acquired knowledge, or what is referred to as crystallised intel-
ligence, as opposed to general reasoning ability and/or speed of thinking, referred to
as general (‘g’) or fluid intelligence, which is predominantly (though not entirely)
inherited. Broadly speaking, crystallised intelligence is reflected in tasks that assess
verbal abilities and the kinds of knowledge acquired from experience and education,
mainly via language; whereas fluid intelligence is reflected in tasks that assess nonver-
bal abilities such as pattern perception and visual-spatial reasoning.
The most widely used tests of intelligence are the Wechsler scales, compris-
ing the Wechsler Adult Intelligence Scale (WAIS) (1999) and the Wechsler

'Words or phrases in bold type on first occurrence can be found in the Glossary.

55
What is Autism?

Intelligence Scale for Children (WISC) (2004). These scales were first published
in the US in the mid-twentieth century, but have been updated on a regular basis
and published internationally in editions that take account of differences in lan-
guage and culture. A summary of subtests comprising the Verbal and Performance
(nonverbal) scales from the UK version of WISC-IV (Wechsler, 2004) is shown
in Box 4.1. This Box also provides an explanation of how intelligence quotients
(IQs) and mental ages (MAs) are calculated.

Box 4.1 The Wechsler Scales: Subtests

and measures

Verbal Subtests
Information assesses general knowledge.
Vocabulary assesses the ability to define words.
Comprehension assesses knowledge of social and cultural conventions.
Arithmetic assesses mental arithmetic skills.
Similarities assesses the ability to say in what way two things are alike.
Digit Span tests the ability to repeat back a string of numbers in the correct
order, and in the reverse order.

Performance (Nonverbal) Subtests

Picture Completion involves spotting the missing detail in a picture.
Picture Arrangement involves placing a set of small pictures in order, to tell a story.
Object Assembly is a timed jigsaw puzzle test.
Block Design involves using nine cubes, each with two red, two white, and two
diagonally red and white faces, to copy a given red and white pattern; the test is timed.
Digit Symbol (adult scale) and Coding (children’s scale) provides a symbol
(e.g. square, oblique line) for each of the digits 1-9, to be written against a
randomised string of digits within a given time.

Measures
Raw Scores are calculated for each subtest.
Standard Scores (SS) and Full Scale IQ (FSIQ) can be identified from the
raw scores, using a Table representing how the participant's raw score rates in
terms of the average for the general population in a given age range.
Verbal IQ (VQ/VIQ) can be identified as for FSIQ (above) using scores from
Verbal subtests only.
Performance/nonverbal IQ (PQ/PIQ or NVQ/NVIQ) can be identified as for
FSIQ (above) using scores from Performance subtests only.
Mental Age (MA) or Age-Equivalent (AE) is calculated by taking the individual's
combined subtest scores and using a Table to identify the chronological age for
which the score is the exact average.To ascertain Verbal MA (VMA), or Performance/
Nonverbal MA (NVMA), scores on the relevant set of subtests are used.

56
 The Fuller Picture: Sources of Diversity

Intelligence test profiles in people with autism

The Wechsler scales have been used for many years to assess learning abilities in
individuals with autism. Two reviews of early studies of lower-functioning indi-
viduals (excluding the least able, for whom the test is inappropriate) showed
consistent discrepancies between nonverbal IQ (NVQ) and verbal IQ (VQ),
in favour of the former (Lincoln et al., 1995; Siegel et al., 1996). Moreover, the
NVQ > VQ discrepancy was larger in the more severely learning disabled groups
than in groups whose overall IQ was within the low-average range.
Since these reviews were published, increasing numbers of higher-functioning
individuals with ASD have been diagnosed; the age range of groups tested has
increased, with more studies of adults appearing; and the Wechsler tests them-
selves have been updated. A mixed age, mixed ability study by Mayes and Calhoun
(2003) demonstrated the importance of both age and overall ability in determin-
ing patterns of findings on the Wechsler tests. Similarly, a study by Oliveras-Rentas
et al. (2012; see also Dawson et al., 2007; Barbeau et al., 2013) demonstrated that
differences in tests used can lead to significant differences in findings. Nevertheless,
the following broad conclusions can be drawn:

e Intelligence test scores in people with autism are notably uneven. However, the unevenness
has a somewhat different pattern in people with high-functioning autism as compared to
people with lower-functioning autism. Specifically:
e Lower-functioning people with ASD generally have higher NVQs than VQs, although this
discrepancy decreases with age.
e Higher-functioning individuals with autism have more evenly balanced verbal as opposed to
nonverbal abilities, with considerable individual variation.

Typical profiles of Wechsler subtest scores for individuals with higher-functioning

ASD compared to those with lower-functioning ASD are shown in Figure 4.1.
The fact that scores on most nonverbal (‘performance’) subtests are consistently
better than scores on verbal subtests in lower-functioning individuals suggests that
what makes some people with ASD ‘less able’ than others is mainly an impair-
ment of crystallised intelligence, with fluid intelligence, or ‘g’, being less affected.

Cognitive abilities
As noted above, cognitive abilities in lower-functioning people with ASD are
under-researched. However, lower-functioning individuals have, by definition,
uneven sensory-perceptual processing, entailing unusual strength in attention
to detail, generally at the expense of attending to wholes, as described in
the previous chapter. Attention may be ‘single channel’ (monotropic), as
also mentioned in Chapter 3. Visual-spatial reasoning is often a peak ability,
middle-to-lower functioning ASD groups achieving normal levels of perfor-
mance on relevant tests (Dawson et al., 2007). Speed of processing as assessed
using an inspection-time task is also a peak ability (Scheuffgen et al., 2000).
Performance on visual-spatial reasoning tests and on speed-of-processing tests
are generally considered to assess fluid, or general intelligence (‘g’). These find-
ings therefore strengthen the conclusion that fluid intelligence is relatively

57
What is Autism?

160
140
120
100
fee)oO

(mean=100)
quotients
Typical

7) (2) c Cte kt ae 2 ie a c
B
[oe NH
ie =yhybe veil
Et eteo eoBoe sSey Js
mies Sess oo rt
a
D = = © = e sf Se GCE 25.9
sDlide Rciov
ra) =
hw rs)
Eee = iesareeuant2o
a 5 =
last= rQogis
% ¥%
QO fe) or Span} xt es fe) fo} oO
= ep) £ a oO ° = 2
= o ran)
fo)
O

Wechsler subtests

—G— Higher-functioning ASD

—A— Lower-functioning ASD

Figure 4.1. Typical profiles of Wechsler subtest scores in lower- and higher-
functioning individuals with ASD

spared in lower-functioning autism, whereas crystallised intelligence is subav-

erage and sometimes very poor.

Language Impairment

Terminology
For a clear understanding of what is and what is not impaired across the spectrum,
it is essential to be clear about what is meant by language, as opposed to com-
munication; and about the distinction between language and speech. The first of
these distinctions was touched on in the previous chapter, and is explained more
fully in Box 4.2.
Impaired communication is a key component of the social interaction impair-
ments diagnostic of autism, and was considered in some detail in the previous
chapter. Impaired communication will not therefore be considered further here,
where the focus is first on speech, then on language.
Speech across the spectrum

Speech in the large majority of high-functioning individuals with ASD is ‘clinically

normal’, i.e. not warranting referral to a speech and language therapist. However,
minor errors such as slightly lisped /s/ or incompletely rolled /r/ are quite com-
mon (Shriberg et al., 2001). Moreover, around 10 per cent of high-functioning

58
 The Fuller Picture: Sources of Diversity

Box 4.2 Definitions of communication,

language and speech

Communication
Communication is something that humans — and animals — do. They do it
to convey, receive and share feelings, thoughts, information, etc. — or simply
to oil social wheels or pass the time. Communication can be involuntary (e.g.
yawning during a boring conversation), or voluntary (escaping from a boring
conversation by making a verbal excuse).

Means of communication used by humans include language and nonverbal

signals such as tone of voice, facial expression, body posture and gesture.
Pragmatics refers to the rules and conventions for using language and nonver-
bal communication signals to communicate.

Language
Language is something that humans have. Languages consist of a set of
symbols (the words or signs), plus rules for combining symbols meaningfully.
Linguistic knowledge can be stored in the brain, or described in dictionaries and
grammar books.

Lexical semantics refers to the meanings of words or signs in a particular

language.

Syntax refers to the grammatical rules for combining individual symbols

meaningfully.

Morphology refers to the minimal meaningful components of a language,

including ‘Semantic morphemes' such as ‘and; ‘but; ‘or; as well as ‘grammatical
morphemes’ such as /-ing/, /un-/, /’s/ /-ed/. Morphosyntax refers to the rules
and conventions governing combinations of morphemes.

Phonology refers to knowledge of the sound system of spoken language,

including knowledge of individual phonemes such as ‘b; ‘t) ‘th, ‘sh’ ‘ee} ‘ah’
also knowledge of phonotactics — the rules and conventions for combining
phonemes into meaningful words and phrases, such as (using the above pho-
nemes): ‘bath sheet:

Speech
Speech is the output channel for spoken language, just as writing is the
output channel for written language, and hand postures and movements
are the main output channel for signing. Speech is a motor activity involv-
ing articulation: it is not part of the language system itself, any more than
hearing — the input system subserving spoken language — is part of the lan-
guage system. However, any impairment of phonology will be manifested in
impaired speech. Phonological and articulatory impairments are therefore
hard to tease apart. Prosody refers to the acoustic patterning of speech in
terms of pitch, loudness, tempo and rhythm.

59
What is Autism?

individuals have persistent, clinically significant phonological/articulatory errors

(Rapin et al., 2009; Cleland et al., 2010).
In iseeeninctionite people with ASD, phonology/articulation is always
impaired, but usually only to the same extent as in non-autistic individuals with
a comparable degree of intellectual disability (Boucher, 1976; Kjelgaard & Tager-
Flusberg, 2001). Thus, their phonological/articulatory abilities can be said to be
‘Mental Age (MA) appropriate’.
Language
An abbreviated account of what is known about language and language impair-
ment across the spectrum is given here. Full accounts can be found in Eigsti et al.
(2011), Kelley (2011), Boucher (2012) and Kim et al. (2014).
In people with higher-functioning ASD Language is clinically normal tn the most
able people with ASD (those who warranted a diagnosis of ‘Asperger syndrome’
under DSM-IV definitions). That is to say that the vocabulary used is large and the
grammar ostensibly correct (but see Tyson et al., 2014). However, the language
used by individuals at the top end of the spectrum is somewhat pedantic and idi-
osyncratic, as noted by Asperger. For example, one able man I worked with some
years ago used the phrase ‘in a manner of speaking’ repeatedly throughout his
conversation — almost like a tic. There are difficulties in understanding non-literal
uses of language, as in metaphor or sarcasm (Happé, 1995). There is also evidence
of subtle differences in the content and organisation of the conceptual networks
underlying linguistic meaning (Volden & Lord, 1991; Kelley et al., 2006; Bowler
et al., 2008). This may help to explain why words and phrases may be used with
unusually narrow or idiosyncratic meaning.
There are, in addition, some autistic children with normal nonverbal intelli-
gence who acquire language later and more slowly than the typically developing
child, with errors and immaturities persisting into the junior school years (Rapin &
Dunn, 2003). Thereafter, however, their language is clinically normal.
In people with lower-functioning ASD A proportion of individuals with lower-
functioning autism never develop meaningful language, displaying little or no
understanding or use of speech, written language, gestures or signs. These indi-
viduals are generally severely or profoundly intellectually impaired, often with
multiple physical as well as intellectual disabilities.
However, another group of individuals with ASD who never speak are not pro-
foundly intellectually disabled, as shown by their relatively good self-care and
daily living skills (Carter et al., 1998; Kraijer, 2000). They may also understand
some language (Windsor et al., 1994). This rare subset of lower-functioning indi-
viduals may be described as having pervasive mutism, as described in the section
on ‘Communication’, in Chapter 3.
More commonly, people with middle to low-functioning ASD acquire some
useful but limited language. Language profiles in this group are very varied. This
is partly because of differences in nonverbal (fluid) intelligence (Stevens et al.,

60
 The Fuller Picture: Sources of Diversity

2000; Luyster et al., 2008); also because comorbid conditions such as hearing
loss, epilepsy or syndromic medical disorder are commonly present, adding their
own distinctive sets of speech and language problems to those characteristic of
lower-functioning ASD, as described below.
Underlying the diversity of language profiles in lower-functioning individuals
with some useful language, some common characteristics can, however, be per-
ceived. These emerge only from large-scale group studies in which the diversity
among individuals is outweighed by the shared characteristics of all the individuals
in the group (see, for example, Rapin, 1996; Rapin & Dunn, 2003). Shared char-
acteristics of what is later in the book referred to as the ‘autism-specific language
profile’ include the following:

e Language impairment (when present) is amodal: in other words, it affects language in all
modalities, whether spoken, gestural, signed, written or otherwise conveyed.
e The impairment is characterised first and foremost by problems of comprehension and
meaning, i.e. semantics. In a review of early studies of language in young children with
lower-functioning autism, Fay and Schuler (1980: 49) wrote ‘the vocal product, whether
echoic or otherwise noncommunicative, continues unimpinged by the meaning system’
Linguistic meaning for older or more able individuals tends to remain abnormally narrow
and literal, revealing ‘limited ability to integrate linguistic input with real-world knowledge’
(Lord & Paul, 1997: 212).
e Impairments of grammar (syntax and morphology) are prominent in the preschool years
(Eigsti et al., 2007) but are probably less persistent and pervasive than semantic impair-
ments. Thus, in their authoritative review of ‘Language and Communication in Autism;
Kim et al. (2014: 241) conclude:

It seems very likely that syntactic development in children with autism is more similar than
dis-similar to normal development. It proceeds at a slower pace and is related to develop-
mental level more than to chronological age.

e However, the relative sparing of grammar is controversial, and of importance for explana-
tions of language impairment in lower-functioning ASD, as will be discussed in Chapter 10.
e Expressive language (language output) may appear to be superior to comprehension as a
result of the tendency to reproduce echoed or rote-learned chunks of language verbatim. For
example, the phrase ‘Time to go home’ may be uttered when the bell rings at the end of after-
noon school, or ‘Do you want some juice’ may be used to ask for a drink, echoing sentences
frequently addressed to the individual. Truly productive language output is not superior to
comprehension. Thus, a child using the echoed sentences in the examples above would be
unlikely to produce spontaneous utterances recombining parts of those sentences, for exam-
ple: ‘Time’ / ‘for some juice’ or ‘Do you want’ [meaning ‘| want’] / ‘to go home:
e Expressive language is also characterised by some distinctive features. These include
echolalia in younger or less able people; the use of idiosyncratic words or phrases and also
neologisms (made-up words); and problems with deixis/deictic terms, the meaning of
which is dependent on the speaker and the speaker's location in space and time, for exam-
ple, ‘you’/‘me’ ‘here’/‘there, ‘now’/‘then’ (Bates, 1990). In addition, emotion-related words,
and words referring to mental states are under-represented.

61
What is Autism?

MINOR SPECIFIERS
Comorbid Physical and Medical Conditions

‘Comorbidity’ is a medical term that refers to the co-occurrence of two or more

identifiable conditions where one is not an integral — i.e. invariable - component
of the other. Several comorbid conditions appear to be related to ASD in the sense
that they co-occur with autism more often than they occur in the general popula-
tion, and therefore more often than can be explained in terms of normal variation.
It is important to be aware that this need not imply that the rate of co-occurrence
with ASD is high. Tuberous sclerosis, for example, which is described below,
occurs in 0.01 per cent of the general population, but in approximately 2 per cent
of all people with autism. Thus, none of the conditions described in this section is
universally associated with ASD; few are as commonly associated with ASD as are
intellectual disability or language impairment; and some are rare. The results of a
population study reported by Levy et al. (2010) demonstrate that it is actually rel-
atively rare for people with ASD not to have some additional diagnosed condition.
This paper also demonstrates the very wide range of comorbid conditions that
have been reported, only a selection of which are referred to below.
Some physical and medical conditions that co-occur with ASD more often than
can be explained in terms of chance have been mentioned in previous chapters. In
particular, the above-chance incidence of hearing and visual impairments, hypo-
tonia and toe walking were mentioned in Chapter 3. In the section on ‘Syndromic
autism’ in Chapter 7, certain other medical conditions are mentioned which are —
albeit rarely — causally linked to ASD. These conditions include tuberous scle-
rosis, Fragile X syndrome, Down syndrome, Turner syndrome and Prader-Willi
syndrome, among numerous others (Miles, 2011; Sztainberg & Zoghbi, 2016). In
what follows, only some of the more common conditions that are not mentioned
elsewhere in the book will be outlined.
Epilepsy Epilepsy occurs in an estimated 20-35 per cent of individuals with
autism (Tuchman & Rapin, 2002), generally manifesting during adolescence in
lower-functioning individuals (Matson & Neal, 2009).
Immune system disorders Autoimmune disorders occur when the immune
system attacks normal body components as if they were foreign invaders. Some
autoimmune disorders are well known and easy to identify, such as asthma,
eczema, rheumatoid arthritis, and Type-1 diabetes. Other, less immediately detect-
able, immune disorders operate by producing antibodies that can cause biochem-
ical and tissue abnormalities, as in the case of inflammatory bowel disease (see
below). When brain chemistry and tissue are affected, there are consequences for
behaviour. There are many anecdotal and some research reports of raised prev-
alence of autoimmune disorders in people with autism. However, these reports
have yet to be confirmed in methodologically rigorous studies (see Krause et al.,
2002, and Ashwood & Van de Water, 2004, for reviews).

62
 The Fuller Picture: Sources of Diversity

Gastrointestinal disorders Gut and bowel disorders became a much-debated

topic in the ASD literature when it was suggested that inflammatory bowel dis-
ease and ASD might result from administration of the measles, mumps and rubella
(MMR) vaccines (Wakefield et al., 1998). The evidence for a raised prevalence
of gastrointestinal disorders is in fact mixed. Symptoms such as abnormal stools,
constipation, diarrhoea, food faddiness and excessive thirst (polydipsia in medical
terminology) are commonly reported, all of which could be related to digestive
problems (Erickson et al., 2005; Ibrahim et al., 2009). However, Buie et al. (2010)
concluded that the rate of occurrence of gastrointestinal disorders in children with
ASD, although high, was similar to the rate of occurrence in typically developing
children, and generally responsive to treatment. It is probably true to say that the
jury is out on this issue.
All the above medical conditions, and many others that can co-occur with
autism, are characterised by unique sets of physical and behavioural anomalies and
impairments, adding to the differences seen among individuals with ASD. In some
individuals, the characteristics of the co-occurring syndrome mask the presence of
autism, as in the child described in Box 4.3.

Mental Health Problems

Comorbid mental health problems are common in people with autism.

However, prevalence estimates vary considerably according to the method used
to identify such problems, the criteria used to identify individuals to be studied,
the age at which groups are studied, and whether those studied are higher- or
lower-functioning (Moss et al., 2015).
Studies of children and young people In a study in which mothers of children
with ASD between the ages of 6;0 and 16;0 years were asked about their child,
54 per cent of higher-functioning children and 42 per cent of lower-functioning
children were identified as suffering from ‘depressed mood’; and 79 per cent of
higher-functioning and 67 per cent of lower-functioning children were identified
as ‘anxious’ (Mayes et al., 2011).
However, in a study in which clinicians formally assessed a large group of 8;0
year olds with ASD, including both lower- and higher-ability children, emotion-
related conditions including anxiety and depression were found in only 9.2 per
cent of the group. Oppositional defiant disorder (ODD) was diagnosed in 4 per
cent of the children, and obsessive compulsive disorder (OCD) occurred in 2 per
cent. Other mental health disorders, including psychoses, were rare, none occur-
ring in more than 1 per cent of the children studied (Levy et al., 2010).
In later childhood the prevalence of comorbid mental health conditions
increases. In a clinician-based study of 10;0—14;0 year olds of mixed ability, it was
reported that 70 per cent of participants had at least one comorbid condition and
4] per cent had two or more. The most common psychiatric diagnoses were social
anxiety disorder and ODD, which occurred in 29.2 per cent and 28.1 per cent,
respectively, of the children studied (Simonoff et al., 2008).

63
What is Autism?

——————————_

Box 4.3 Craig: A child with multiple difficulties

Craig was initially diagnosed as having Williams syndrome, a rare genetic dis-
order usually characterised by overall intellectual disability in combination with
hyper-sociability and good language. Williams syndrome, like Down syndrome, is
easy to detect in early infancy because it is associated with distinctive facial fea-
tures and also some health problems that may need early medical attention. It can
also, like Down syndrome, be diagnosed using a physical test.
When | first met him at age eight years, Craig was very clearly a Williams syn-
drome child: in appearance, in some of the health problems he had, and also in
the fact that he had marked intellectual disability. However, he had no language,
either spoken or signed: in fact he could not even communicate using pictures —
for example, pointing to a picture of a biscuit to ask for a biscuit; or to a picture of
his coat if he wanted to go outside. Failure to acquire language is very unusual
in a child with Williams syndrome, and in his junior school years Craig was found
to meet DSM-IV criteria for autistic disorder. This did not mean that he had been
wrongly diagnosed as having Williams syndrome. Rather, it showed that he suf-
fered from Williams syndrome and ASD simultaneously. In addition to his ASD and
Williams syndrome, Craig has a heart abnormality, dyspraxia and psoriasis, a truly
unfair load.
When | last saw Craig some years ago, at age 15, however, he had finally
learned to communicate using pictures. He was also as demonstratively affection-
ate towards his parents as he always was, which was probably what masked his
ASD for so long.

(With thanks to Craig’s parents for permission to publish this description.)

Studies focusing on a range of obsessive and compulsive behaviours in children with

ASD show that although these types of behaviour are common, they are different in
kind from those most typical of OCD, and may be more appropriately considered to
be forms of RRBs (Zandt et al., 2007; Ruta et al., 2010). A range of self-injurious com-
pulsive behaviours are considered below under the heading ‘Behavioural problems’.
Studies of adults A study of lower-functioning adults with ASD, in which clini-
cians were the assessors, reported relatively low rates of depression and anxiety
(5 per cent and 4 per cent respectively), and a low rate of comorbid psychosis
(1 per cent). However, the rate of ‘problem behaviours’ (challenging, aggressive
or destructive behaviours) was high, at 38 per cent (Melville et al., 2008). More is
said about such behaviours below.
In contrast to the relatively low rates in lower-functioning adults of mental health
conditions other than problem behaviours, studies of high-functioning adults with
ASD consistently show a startlingly high level of mental health conditions. Some of
the findings from a study by Hofvander et al. (2009) are summarised in Table 4.1.
Similarly, Maddox and White (2015) found that 50 per cent of young adults
with high-functioning ASD qualified for a diagnosis of social anxiety disorder. Kato
et al. (2013) reported that 7.3 per cent of patients admitted to hospital following
attempted suicide qualified for a diagnosis of ASD — an extremely high percentage

64
 The Fuller Picture: Sources of Diversity

Table 4.1. Mental health conditions in high-functioning adults with ASD

(reported by Hofvander et al., 2009)
ee eee ee ee eee ee eee ee ee

21 , Impulse
: personality Mood Substance control Eating
Diagnosis disorder disorder Anxiety OCD abuse _ Psychoses disorder disorder
ee ee Ee ee ee ae a a ar Oe eee
No. assessed TY 122 hee @ Wee 122 122 122 119
Percentage 62 53 50 29 16 12 9 5
with the
disorder

given that ASD occurs in only around 1 per cent of the population. A review of what
is known about suicide in people with ASD can be found in Richa et al. (2014).
The fact that anxiety and depression are more common in people with
high-functioning autism than in less able individuals reflects the fact that
high-functioning individuals are more likely to have to cope with the normal
world, with all its unpredictability and social demands. High-functioning adults
with ASD are also aware that they are ‘different’ in ways that entail many diffi-
culties and frustrations. Thus, the capacity for self-awareness and self-knowledge
that is of such benefit in some ways can at the same time bring great unhappiness,
which less able people with ASD are largely spared. An example of how desper-
ate this unhappiness can be — especially in the absence of a diagnosis — is given
in Box 4.4. The case of ‘Mr A’ also serves to illustrate the fact that comorbid psy-
chiatric and mental health disorders can mask the underlying presence of ASD,
making differential diagnosis difficult (Mazzone et al., 2012).

Neurodevelopmental Problems

Catatonia is mentioned as a specifier in DSM-5 diagnostic criteria for ASD

(see Box 2.1). It may occur in up to 15 per cent of young adults with ASD
(Kakooza-Mwesige et al., 2008). For descriptions and discussion of catatonic states
in people with ASD, see Hare and Malone (2004) and Mazzone et al. (2014).
Hyperactivity, impulsivity and distractibility These also commonly co-occur with
autism, with high levels of comorbidity of ASD with attention deficit and hyper-
activity disorder (ADHD) reported in mixed-ability groups of children (Mayes
et al., 2012; Van der Meer, Oerlemans et al., 2012) as well as in studies of adults
(Hofvander et al., 2009; Mazzone et al., 2012). For a review of studies and dis-
cussion of the relationship between ASD and ADHD see Gargaro et al. (2011).
Dyslexia Precise rates of formally diagnosed developmental dyslexia in people
with ASD are not established. However, reading comprehension is frequently
poor across the spectrum, and although there is an unusually high proportion of
individuals who are hyperlexic, as mentioned in the section on Islets of Ability
in the previous chapter, there is also a high proportion of individuals with poor

65
What is Autism?

Box 4.4 ‘Mr A’: An able man with ASD and

severe anxiety and depression
‘MrA, a 44-year-old married man in professional employment, was admitted as an
emergency to the psychiatric department of an American hospital following a failed
suicide attempt. He described himself as ‘thoroughly depressed: When interviewed
by clinicians, Mr A answered questions with ‘almost scripted’ verbal responses,
with little rhythmic variation in his speech. He showed little capacity for discuss-
ing his own and others’ feelings, and recounted emotionally charged occurrences
matter-of-factly, inappropriately smiling, and with his eyes fixed on the mouth of the
interviewer, rather than the eyes.
Investigation of Mr As early history revealed that he had always been socially
awkward, with a poorly developed regard for the feelings of others, and a preoccu-
pation with routine and rigidity. As an infant, he rebuffed his mother’s affection and
coddling. As a toddler, he engaged in independent or parallel but not reciprocal
play, often playing intensely and exclusively with toy trucks. As a school-age child,
he kept to himself and was picked on by other students for being different. While
at college, Mr A had suffered from depression and anxiety, associated with heavy
drinking and drug abuse, culminating in an unsuccessful suicide attempt. An ina-
bility to cope with opposition or frustration had in the recent past precipitated an
assault on a fellow employee at work, and the immediate trigger for his recent sui-
cide attempt was a similar violent outburst in a situation he couldn't handle, leading
to his being fired from his job.
Mr A was subsequently diagnosed with ASD and, at the time of writing, is
receiving multifaceted treatment for the problems associated with his condi-
tion. Mr A greatly appreciates knowing that he has ASD, remarking, ‘It’s helpful
to at least know why | see or experience the world differently than what others
seem to.

(From Spencer et al., 2071, with thanks to the authors for

permission to include this account)

mechanical reading ability as well as poor comprehension (Nation et al., 2006;

Jones et al., 2009). In the study by Hofvander et al. (2009), selected data from
which are reproduced in Table 4.1, the rate of clinically diagnosed dyslexia in
high-functioning adults with ASD was reported to be 14 per cent.

Behavioural Problems

Selfinjurious and other maladaptive behaviours Self-injurious behaviours (SIBs),

such as head banging, eye poking or hand-biting, quite commonly occur in learn-
ing disabled people generally (Collacott et al., 1998) but are most common in
lower-functioning people with ASD (Richards et al., 2012). Self-injurious behav-
iours may be responses to a lack of external stimulation and/or high pain threshold
or, conversely, to an excess of stimulation that the individual cannot process. Some

66
 The Fuller Picture: Sources of Diversity

SIBs may result from internally generated compulsions such as occur in OCD.
However caused, these behaviours are always an issue of serious concern, not least
because SIBs can cause secondary health problems of bruising, bleeding and infec-
tion, resulting in additional distress. Health problems can also arise from habitual
compulsive behaviours such as pica or trichotillomania.
Challenging behaviour Challenging behaviour, like SIBs, can occur as a reac-
tion to overstimulation, or as an expression of anger or frustration. Some people
with autism may vent their anger or frustration on others, but this is rare. More
commonly, challenging behaviour involves having a temper tantrum, active
refusal to comply with reasonable requests, or antisocial behaviour such as spit-
ting or screaming. Behaviours such as these may be judged by us to be ‘mala-
daptive’, ‘unwanted’ or ‘antisocial’. However, when such behaviours occur in
severely intellectually disabled people who have little or no effective control
over their own lives, and who have little or no means of communicating their
own desires and preferences, the behaviours are more appropriately under-
stood as expressive and communicative. So for example, hitting may express
‘Go away: leave me alone’; spitting may express ‘I’m frightened: get me out of
here’. Such communicative acts are not, of course, intentional or under volun-
tary control, let alone ‘naughty’ or ‘malicious’. (It takes some degree of insight
to be naughty or malicious, and although more able children with autism may
on occasion do things that they know will hurt or annoy, this is uncommon.)
Many of the bizarre or undesirable behaviours that can occur in people with
ASD should rather be seen as responses to being autistic, vulnerable to stress,
powerless, and — in very young children or less able adults — with limited ability
to communicate (Jordan & Powell, 1995).
Sleep disturbance Sleep disorders are common in people with ASD, especially
in those who are lower functioning (Souders et al., 2009; Mannion & Leader,
2014). There may be problems in getting to sleep at an appropriate time or prob-
lems of night-time waking. Abnormalities of rapid eye movement (REM) sleep in
people with autism have been demonstrated in several studies (see, for example,
Elia et al., 2000). Sleep disturbances are extremely wearing for parents and other
close carers to cope with, and may create more problems for families than any
other aspect of their child’s autism.

INDIVIDUAL DIFFERENCES
A common stereotypic view of someone with autism is of a person who never
looks you in the eye, who rocks or bangs their head on the wall, and who is gener-
ally ‘out of it’ to the extent that they are unmanageable and an embarrassment in
public places. An alternative stereotypic view, largely derived from the kind of fic-
tional presentations of ASD exemplified in the film Rain Man and the novel The
Curious Incident of the Dog in the Night-time, is of a slightly quaint, quirky character

67
What is Autism?

with some amazing (savant) abilities (see comments in Chapter 2). Individuals fit-
ting both these stereotypes can be found in reality. However, this alone emphasises
the very great range of people who fit under the umbrella term ‘autism’. It also
illustrates just how wrong any one stereotypic view of people with ASD can be.
There is no reason, in fact, why people with autism should conform to any
stereotype. Imagine a room full of people with hearing impairrnent, or who are
of short stature. They would have certain things in common by virtue of the fact
that they all have hearing impairment or a growth deficiency. However, in all
other respects they would be different from each other: in detailed physical char-
acteristics; in temperament and personality; in abilities, education and interests,
likes and dislikes; all with different histories and formed by different experiences.
Exactly the same is true of people with autism: they have a few things in common
by virtue of the fact that they all have to a greater or lesser extent some spe-
cific impairments and some strikingly spared abilities. They may also share certain
characteristics with some people with ASD but not with others: for example,
impaired language, the physical characteristics associated with Down syndrome,
or depressive tendencies. But in overwhelmingly more important respects, people
with ASD are unique individuals. To quote Dr Stephen Shore: ‘If you’ve met one
person with autism, you’ve met one person’ (the-art-of-autism.com/favorite-quotes).
For a compelling account of the characteristics and causes of heterogeneity among
people with ASD, see the book by Waterhouse (2013) entitled Rethinking Autism:
Variation and Complexity.

SUMMARY
‘Determiners’ identified in DSM-5 are the severity of SEC impairments and RRBs,
and the presence or absence of additional problems referred to as specifiers. These
determiners make major contributions towards the diversity among individuals, all
of whom warrant an ASD diagnosis.
Differences in severity are clearly described within DSM-5 criteria.
Of the specifiers listed, some degree of clinically significant learning disability
and language impairment occurs in over half of all people with ASD. Within this
group, language, rather than speech, is most commonly affected in tandem with
lower than average levels of verbal — or ‘crystallised’ — intelligence. Nonverbal or
‘fluid’ intelligence is generally less affected, however, and in individuals who might
be described as having ‘middle-functioning ASD’ fluid intelligence may be within
the normal range. Language impairment is generally amodal, with comprehension
and meaning (semantics) more severely and persistently affected than phonology
or syntax. Pragmatics is always impaired, because it is primarily associated with
use of language, that is to say with communication, rather than with the language
system itself.
Various medical, mental health and neurodevelopmental and behavioural
conditions occur in association with autism significantly more often than in the

68
 The Fuller Picture: Sources of Diversity

general population. Some of these conditions are strikingly common, affecting

high-functioning adults in particular — for example, anxiety and depression. Other
common conditions are more likely to occur in lower-functioning individuals — for
example, epilepsy, behaviour problems or sleep disturbance. Some other comorbid
conditions are rare, though still occurring more often than in the general popula-
tion. Most of these rarer conditions are more likely to occur in, and to contribute
to, low-functioning autism, and include various genetic syndromes. Some individ-
uals with autism have multiple difficulties, of which ASD may not be the most
important when considering the individual’s needs.
Despite the complexity and variety associated with ‘determiners’, the largest
contribution to diversity comes as in all human populations or subpopulations
from individual differences of temperament and personality, educational opportu-
nities and life experiences.

69
 Pr cg seenh etUsechet
penile i AST), ihe the besekby We
View dnon Lait Ci Whiolvety
 FACTS AND FIGURES:
EPIDEMIOLOGY AND LIFESPAN
DEVELOPMENT
EPIDEMIOLOGY
Frequency of Occurrence of ASD
Distribution of Cases of ASD

LIFESPAN DEVELOPMENT
Age of Onset
The Developmental Trajectory: Continuities and Change
Adult Outcomes
Judging Long-term Outcomes

SUMMARY
What is Autism?

AIMS
The main aim of this chapter is to provide factual information about autism in
general, as opposed to information about the characteristics of people with ASD.
A subsidiary aim is ta add a longitudinal perspective to the picture established in
previous chapters by looking at facts and figures concerning people with ASD from
infancy to old age.

EPIDEMIOLOGY
‘Epidemiology’! translates literally as ‘the study of epidemics’, and fefers to the
frequency of occurrence and the distribution of diseases or disorders in particu-
lar populations. The frequency of occurrence of autism will be considered first,
followed by a section on the distribution of cases of autism across gender, race
and social class.

Frequency of Occurrence of ASD

Frequency of occurrence can be calculated either in terms of incidence or in terms

of prevalence, words with slightly different meanings when used by epidemiolo-
gists. Incidence refers to the number of new cases of a disease or disorder reported
in a given period of time. Prevalence refers to the total number of cases of a disease
or disorder in a specified population at a particular point in time. An easy way to
remember this distinction is to think of incidence as referring to ‘incidents’, or
‘happenings’, that is to say new cases; whereas prevalence refers to a prevailing, or
ongoing, situation.
There are some problems in calculating both the incidence and the preva-
lence of ASD. The problem for calculating incidence is that autism rarely if
ever has a clear date of onset, and the process of identification and diagnosis
may take a long time, or occur late in life. For this reason, the incidence of new
cases in any one year, or even over a five-year period, is difficult to calculate
with certainty.
The problem in calculating prevalence is the likelihood of underestimating the
actual numbers of people with ASD. This is because some people who are autistic
will not be diagnosed, perhaps because they are too young to have received a diag-
nosis, or because they are severely physically and intellectually disabled and their
needs are dictated mainly by these handicaps rather than by their autism.
The problem in calculating the incidence of ASD is usually considered harder
to overcome than the problem of calculating prevalence, which can be miti-
gated by calculating prevalence for an age group that specifically excludes very

‘Words or phrases in bold type on first occurrence can be found in the Glossary.

72
 Epidemiology and Lifespan Development

young children, and by screening all individuals in that age group within the
general population. To answer the question ‘How common is autism?’, there-
fore, measures of prevalence are generally preferred, and will be used in the
figures quoted below.
In what follows it is important to bear in mind that studies of prevalence, also of
the distribution of autism across gender, race and class, have not been carried out
in some middle- and lower-income countries. Figures given below are therefore
derived from studies carried out in affluent countries where the identification of
individuals with autism is well established.
Rising prevalence estimates
Prior to the 1980s, ‘Kanner’s syndrome’ or ‘classic autism’ was consistently esti-
mated as affecting approximately 0.05 per cent of children in studies carried out
in the US or the UK. From the 1980s, when it was recognised that autism often
occurs in the absence of learning and language impairments, estimates of the prev-
alence of ASD began to rise. This is not surprising, because people who had not
been included previously as they had normal language and intellectual ability now
began to be diagnosed and included in prevalence estimates.
More surprising is the continuing rise in the estimated prevalence of ASD. In
the early 2000s, three authoritative studies, including one by Baird and colleagues
(Baird et al., 2000), put the prevalence at 0.6 per cent. Six years later, another
paper by Baird and colleagues estimated prevalence as nearer to 1 per cent (Baird
et al., 2006). Significantly, however, this rate applied only when a broad definition
of autism was used, the estimated prevalence rate halving when narrower diag-
nostic criteria were used. In 2012, the authoritative Centers for Disease Control
and Prevention in the US estimated the prevalence of ASD to be 1 in every 88
members of the population.
There has been a great deal of discussion as to what factors may be driving the
increase in prevalence rate (see, for example, Hertz-Picciotto & Delwiche, 2009;
Hill et al., 2014). There are two main possibilities. First, it could be the case that
actual prevalence has not changed, but that rates of diagnosis have increased, for
some or all of the following possible reasons:

e Changed diagnostic practices that could allow a much broader group of individuals than
previously to be described as having ASD.
e Greater public awareness of autism through films, TV programmes and newspaper articles,
reducing the likelihood that cases of ASD go undetected.
e Improved availability of health-related services that encourage families to bring their child to
the attention of clinicians, or adults to self-refer.
e Greater willingness among clinicians to diagnose autism in individuals who have some
other significant condition, for example, intellectual disability or Tourette’s syndrome.
e Improved methods in prevalence studies, including more careful screening and ascertain-
ment procedures.

Alternatively — or additionally — the actual prevalence of autism may be rising.

This could only be established once the possible effects of all the factors listed

73
What is Autism?

above had been taken into account. When this has been done, some carefully con-
ducted studies suggest that increased prevalence rates are more apparent than real
(Elsabbagh et al., 2012; Hansen et al., 2015).
However, if established, a genuine rise in prevalence could be of considerable
theoretical and practical importance. It would be theoretically important because,
in view of the fact that the gene pool of a stable population does not change over
decades, it could only be explained by relatively recently occurring environmental
factors. This in turn would be of immense practical importance because environ-
mental factors contributing to increased prevalence might be counteracted. Thus
it might be possible to halt and subsequently to reverse any real rise in numbers
of people with ASD. Environmental factors that may contribute to the increased
prevalence of autism are discussed in Chapter 7.
Whether real or apparent, the perceived ‘epidemic’ of ASD and the associated
costs led to a flurry of legislation in the US, the UK and elsewhere designed to
‘combat’ autism by allocating increased funding for early detection and interven-
tion, as well as for research into causes and cures.

Distribution of Cases of ASD

Gender distribution
Autism spectrum disorder is widely held to be more common in males than in
females by a ratio of approximately 4:1 (Fombonne, 1999), a ratio that has not
changed significantly since the time of Kanner. However, this is a whole-spectrum
average, which masks the fact that males diagnosed with ASD greatly outnumber
females diagnosed with ASD at the high ability end of the spectrum, but by very
much less at the low ability end of the spectrum.
Reasons for the excess of males over the whole spectrum, and for the differ-
ences in gender distribution from high-functioning to low-functioning autism, are
not well understood. However, it is increasingly suggested that there may be many
girls and women, especially at the more able end of the spectrum, who are cur-
rently undiagnosed and with un-met needs (Gould & Ashton-Smith, 2011). Failure
to diagnose high-functioning girls and women may occur because autism-related
manifest behaviours are different, or milder, in females as compared to males; or
because social difficulties are better compensated for; or possibly because of an
unconscious gender bias among diagnosticians (Dworzynski et al., 2012).
Geographical and racial differences
There is insufficient evidence at present to determine with any certainty whether
there are any geographical or racial differences in the distribution of cases of
autism. This is because of the lack of large-scale studies undertaken in middle- and
lower-income countries. However, such studies are beginning to be undertaken
(see the review by Elsabbagh et al., 2012) and over the next decade or so relevant
data should become increasingly available.
With regard to racial differences, such evidence as there is comes from studies of
populations that include a significant proportion of immigrant families, in whom

74
 Epidemiology and Lifespan Development

increased prevalence rates are quite frequently reported (e.g. Barnevik-Olsson

et al., 2010; Keen et al., 2010). However, this evidence is hard to interpret: groups
studied tend to be quite small; immigrant populations are not necessarily repre-
sentative of their original racial group; they are also subject to some exceptional
environmental stressors.
Social class differences
A once common belief about autism was that it occurred more frequently in
families with middle or high socio-economic status (SES) than in families with
lower socio-economic status. This belief arose because wealthier families were
more likely than less well-off families to obtain a diagnosis for their child in the
1950s and 1960s when autism was not universally recognised, and diagnostic and
educational services for children with autism were both rare and expensive.
Many subsequent studies have, in the main, disproved this belief, while con-
firming that more children from higher SES families are diagnosed because of the
greater knowledge and access to services of this parent group (Fombonne, 1999;
Durkin et al., 2010). However, the study by Durkin et al. produced some slight
evidence that children of higher-SES families may be somewhat more vulnerable
to autism than children of parents in other social class groups, as once confidently
believed. Further research is needed to settle this issue.

LIFESPAN DEVELOPMENT
Age of Onset

Idiopathic autism
Until relatively recently, it was usual to identify two patterns of onset in idiopathic
autism: early onset autism, and late onset or regressive autism. However, a study
reported by Ozonoff et al. (2011) suggested that three distinct patterns of onset
can be identified:

e Early onset, in which socio-emotional-communicative behaviours are absent or odd within

the first 18 months of life.
e Late onset/regressive autism, in which SEC behaviours and also language development are
entirely typical in the first 18 months of life, but decline significantly, and sometimes rapidly,
usually in the second half of the second year (Kern et al., 2014).
e Onset associated with ‘plateau-ed’ development, in which early SEC behaviours are similar
to those of typically developing babies for the first 18 months or so, after which development
slows down almost to a halt.

In a comprehensive review of studies of age and patterns of onset, Zwaigenbaum

et al. (2013) go further than Ozonoff et al., concluding that there is a continuum
of ages and stages of the appearance of autistic behaviours within the first 12 to
30 months of life.

15
What is Autism?

In their review, Zwaigenbaum et al. summarise findings both from retrospective

studies using home videos and from prospective studies in which ‘at risk’ babies
have been studied from birth. Home videos of children subsequently diagnosed
as autistic reveal that by the end of their first year, most (but not all) such chil-
dren are less likely than typically developing 1,0 year olds to respond to their own
names, to look at other people’s faces or to follow another person’s direction of
looking or pointing. They are also averse to social touch. By 18 months there may
be a noticeable absence of play and a continuing absence of interest in other peo-
ple, including lack of joint attention behaviours such as protodeclarative pointing
(illustrated in Figure 3.1). Speech is likely to be delayed. In cases where autism is
preceded by a period of normal development, a significant decline in social, com-
municative, play and linguistic abilities is generally evident by the age of 3;0 years.
‘Age of onset’ suggests that at some point in time a person does not have
autism, but at a later time they do have autism. As will be apparent from what
has been said above, it is rarely possible to identify a precise date of onset.
Occasionally, however, parents report that autism develops following an illness
accompanied by fever and/or seizures, or that regression followed a stressful
event such as a death in the family or the birth of a sibling. However, such reports
are anecdotal and possibly unreliable (Ozonoff et al., 2011). It is therefore
an open question as to whether regression, when it occurs, is spontaneous —
that is to say, it occurs as a result of developmental changes within the child — or
whether it is triggered by some environmental factor in a genetically vulnerable
child; or, indeed, whether autism might result from some illness or trauma in a
child with no genetic vulnerability — as considered next.
Acquired autism
In rare cases a school-age child or an adult may develop behaviours associated
with autism following an illness, usually herpes encephalitis, that causes damage
to certain areas of the brain (DeLong et al., 1981; Gillberg, 1986; Ghaziuddin
et al., 2002). Cases of autistic-like behaviours developing after other kinds of
focal brain damage in adults have also occasionally been reported (Umeda et al.,
2010). Such individuals might be described as having acquired autism. However,
because the symptoms of autism in these cases may subside after a time or be
partial or atypical, the description pseudo-autism (or quasi-autism) is probably
more appropriate.

The Developmental Trajectory: Continuities and Change

The phrase developmental trajectory refers to ways in which an individual develops

and changes during their lifetime. The developmental trajectory of every individual
is unique, not least for people with autism for all the reasons that were outlined
in Chapter 4. Generalisations about people with autism must therefore always be
tempered by recognition of their uniqueness as individuals. With that caveat in
mind, some generalisations follow concerning some of the more common patterns
of lifetime development and change.

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 Epidemiology and Lifespan Development

Continuities
In some important ways people do not change. This is true for everyone, not
just for people with autism. The continuous, or unchanging, characteristics of an
individual’s physical make-up, personality or intellectual potential are important
because they partly determine how a person develops. Some stable characteris-
tics that are particularly important in considering how a person with autism may
develop are discussed below.
First, most — though not all — individuals who have been given an authoritative
diagnosis of autism at one age will meet the criteria for autism if assessed again at
a later age (Lord et al., 2006). Cases of recovery are occasionally reported, in the
sense that an individual originally diagnosed with ASD no longer meets diagnostic
criteria at a later age (Seltzer et al., 2003; Pellicano, 2012c; Fein et al., 2013). As
with ‘Sam’, however, whom I described in the section on ‘Diagnostic instability’ in
Chapter 2, residual traces of autism generally remain.
Secondly, intellectual and linguistic potential remain fairly constant from early
childhood, to adolescence, through to adulthood, and largely determine the long-
term outlook for each individual (Levy & Perry, 2011; Howlin et al., 2014). Thus,
the autistic child with high IQ and good language at age 5;0 years is likely to do
well at school and progress to higher education, a job and independent living. By
contrast, the autistic child with below average IQ and limited language at age 5;0
is likely to require special education and to live (and to work, if at all) in sheltered
settings in adulthood.

Positive change during development

Diminution of the severity of autistic behaviours The continuities that constrain
the scope for normal development and normal life for people with ASD might
be seen as the bad news for any parent whose child has just received a diagnosis.
Set against this is the good news that, with a combination of maturation and early
intervention, the majority of individuals can be expected to show fewer or milder
signs of autism in adolescence and adulthood than they did when first diagnosed
(Seltzer et al., 2003; see also McGovern & Sigman, 2005; Levy & Perry, 2011;
Pellicano, 201 2a,c).
Regarding SEC impairments, the tendency to treat people ‘instrumentally’
(e.g. taking a person’s hand and placing it on the juice carton to ask for a drink)
reduces except in the least able nonverbal individuals. Empathy, as expressed
by offering comfort to others appropriately, generally increases, as does social
approach behaviour and the capacity to share enjoyment (e.g. rough and tum-
bling with another child). The originally ‘aloof’ child may progress to ‘passive’
acceptance of physical contact with, or in interaction with, others; whereas the
originally ‘passive’ child may start to initiate social contact, albeit inappropriately;
and the originally ‘active but odd’ child (if high-functioning) may learn the rules
and conventions of social interaction and conversation and interact reasonably
well, though in a formal and somewhat ‘stilted’ manner (see Box 2.4).
Repetitive behaviours and behavioural inflexibility also reduce and change in kind
over the years, except in the lowest-functioning individuals (Seltzer et al., 2003;

(Ts
What is Autism?

McGovern & Sigman, 2005). For example, motor stereotypies that are often
prominent in young children with autism are generally less prominent in older
children, who may develop more ‘normal’ repetitive behaviours such as always
putting on their clothes in the same order or asking repetitive questions. This in
turn may give way to having a preferred activity or interest, such as playing com-
puter games, drawing or listening to music. In some individuals, a preferred activity
or interest may become an asset if it can be shared with others and form the basis
of a friendship, or if it can be utilised in some meaningful occupation or work in
adult life.
Diminution of difficult or challenging behaviours Behaviour problems generally
reduce with age, as the individual becomes better able to communicate their wants
and needs and gains competencies and skills that help to reduce dependency and
frustration. It is important to note, however, that reductions in challenging behay-
iours are less common in the least able individuals, especially those with comorbid
epilepsy and self-injurious behaviours (Howlin et al., 2014).
Negative change that can sometimes occur
Adolescence constitutes a period of risk for children growing up with autism
(Mesibov & Handlan, 1997). The deterioration may be transient, but in some cases
it marks a regression in development or a plateau beyond which little further devel-
opment occurs. Risk factors for severe behavioural deterioration in adolescence
were studied by Périsse et al. (2010), and included low IQ, comorbid epilepsy,
depression, and poor home support and care. It should be noted, however, that for
some individuals (generally the more able), adolescence may constitute a period
of improved social and intellectual functioning (Howlin, 2000).
There are other risk periods for people growing up with ASD, several of which
are associated with environmental changes involving novelty and/or loss of struc-
ture. The transitions from one school to another, for example, or from school to
college or from the parental home to an independent or residential setting, can all
precipitate deterioration in behaviour, as can the loss of a parent or other attach-
ment figure or similar traumatic life event. Such deterioration is usually temporary,
however, and can be minimised by careful management (Sterling-Turner & Jordan,
2007; Faherty, 2008).
Cyclic changes can also cause unusually large variations in behaviour. Most com-
monly in women this is associated with menstruation (Kyrkou, 2005). However,
seasonal changes or particular kinds of weather can also affect certain individuals
for unknown reasons. One teenage boy with whom I used to work was often dis-
tressed and difficult during the winter months, although generally co-operative at
other times of year. Teachers report that children with autism tend to ‘get high’ in
windy weather — but this may be true for children in general.

Adult Outcomes

Parents of typically developing children generally hope that their offspring will
do reasonably well at school; move from school to college, university or other

78
 Epidemiology and Lifespan Development

training or go straight into work; maybe travel a bit, have fun, change jobs a few
times; experiment with relationships for a while before settling down with a long-
term partner to make a home, progress in a career, and eventually retire and enjoy
reasonable health into old age. Judged by these criteria for successful adult out-
comes, people with autism do not as a group do well. For example, a study by
Howlin et al. (2004) of adults with nonverbal intelligence of 50 or above rated
adult outcomes as ‘Very good’ in only 12 per cent of cases based on linguistic and
educational attainment, employment status, friendships and the capacity to live
independently. In the remaining 88 per cent, outcomes were ‘Good’ in 10 per
cent, ‘Fair’ in 19 per cent and ‘Poor’ or ‘Very poor’ in 58 per cent. A similar range
of outcomes is reported in large-group follow-up studies by Farley et al. (2009)
and Anderson et al. (2013). Some brief factual information about adult outcomes
in key areas is given below. In Part III of this book, more will be said about the
many practical issues relating to these topics.
Post-secondary education
People with high-functioning autism may do well at school and easily obtain a
place at college or university. However, such individuals may struggle to complete
their courses for a variety of reasons, including social difficulties and problems
of self-organisation in a relatively unstructured environment (Wei et al., 2013).
Others, however, obtain their degree, and the most academically able may in fact
excel within their year group (two out of 68 adults in the Howlin et al.'s 2004
study cited above had obtained PhDs).
People with middle-functioning autism frequently remain in education as young
adults, taking courses in colleges that offer learning support. This extension of
education can be valuable in developing vocational and life skills, and it can also
cushion the transition from school student to adult status (Taylor & Seltzer, 2011).
The least able individuals may remain in school until the late teen years and have
no further formal education, although they are likely to receive training to improve
their self-care and daily living skills within supportive settings.
Employment
The same small minority of high-functioning individuals who do well educa-
tionally may find paid employment that utilises their abilities and education,
often in careers to do with computers, engineering, accountancy or academic
research (Howlin et al., 2004). However, entry into employment, or holding
down a job, may not be easy because of social clumsiness or other autism-related
behaviours (Hurlburt & Chalmers, 2004). Success in entering and maintaining
employment is also dependent on cultural factors, including the amount of
support provided by various agencies (Jordan, 2001). Once in work, however,
people with autism are often viewed as particularly conscientious and reliable
employees (Howlin et al., 2005).
A minority of middle-functioning people with ASD also find paid employment
in normal environments, tending to work in jobs that are routinised and require
relatively little social interaction, such as gardener, kitchen assistant, assembly line
worker or supermarket trolley collector (Howlin et al., 2004). Here again, entry

79
What is Autism?

into work may be supported, and in some cases support may be maintained in the
long term (Gerhardt et al., 2014). Some other middle- and lower-functioning indi-
viduals work as volunteers, for example in charity shops; or they work for pocket
money on schemes run by their local autism support group, for example growing
and selling garden produce.
For the least able and especially those from low-income families, entry into any
form of consistent employment or occupation is rarely achieved because of the
level of sustained support required (Shattuck et al., 2012) Nevertheless it can be
achieved, as illustrated in the account of Nancy, in Box 5.1.

Box 5.1 Nancy: An example of successful

supported work arrangements fora ~
woman with significant autism
Nancy is in her early 40s and has significant autism. She is nonverbal, has a
history of challenging behaviours, including kicking, biting, screaming, tantrums,
bolting, SIBs, pica, etc. Despite these considerable obstacles she has worked full-
time at union scale for over 21 years with the assistance of a full-time job coach/
behaviour support specialist that she mostly pays for with her take-home earnings.
She is a two-time national award winner, having received awards for Outstanding
Personal Achievement from the Association for Persons in Supported Employment
(APSE) and the Outstanding Individual with Autism from the Autism Society of
America (ASA).
Nancy started while in high school on a work experience scheme, collecting
and reshelfing books at a library and delivering inter-office mail at a College of
Education building at a local university. She then transitioned seamlessly into a job
with local county government, first delivering inter-office appointment messages
and later inter- and intra-office mail delivery and mail catch. She has always had
good work habits when the carved jobs matched her desires to have movement in
her job and variation to her tasks, but still needs the help of a job coach because
of her low impulse control and the periodic changes in job duties. The remaining
portion of her job coach cost is paid by a comprehensive Medicaid Waiver, as
are her residential service cost and the transportation costs she has by having
her own car. She is valued at work, as evidenced by her excellent performance
reviews, well known and well liked by her co-workers and peers in the community.
She has an excellent quality of integrated community life that has been presented
by her parents in 32 US states and Canada.

(With thanks to Joe and Marilyn Henn — contactable at [email protected] — for

providing this account of their daughter, and for their permission to publish it)

Living arrangements
A substantial proportion of adults with autism continue to live with their
parent(s) (Anderson et al., 2014). Of those who no longer live with parents, the
small minority of highly able individuals who find salaried employment generally

80
 Epidemiology and Lifespan Development

live independently in their own homes. For those less able to live independently,
the preferred option is to establish supported living arrangements, enabling
individuals to live in their own homes, whether as tenants or owner-occupiers,
whether alone or with others, and whether requiring 24-hour support or merely
weekly visits (National Autistic Society UK website). Residential homes offering
on-site 24-hour support for large groups of adults with autism are now rare —
at least in the UK. However, for those autistic adults with the most complex
needs, residential care homes catering for small groups may be provided either
by local support groups or by commercial organisations (see Box 13.5). At best,
these offer 24-hour care and support, with personalised learning programmes
and activities. Occasional reports of abuse in commercially run homes underline
the need for regulation and oversight of this type of living arrangement:

Relationships
Life partnerships Very few individuals with ASD (about 4 per cent) enter into
life partnerships, and an even smaller number enter into life partnerships that
last. Relationships between a person with high-functioning autism and some-
one who is not autistic are likely to break down because the partner who is not
autistic finds the relationship too difficult to sustain. However, this is not always
the case, given persistence and patience on both sides. Personal accounts by, for
example, Maxine Aston (2001), Christopher and Ghisela Slater-Walker (2002)
and Ashley Stanford (2014) are illuminating concerning the difficulties that may
be encountered — and sometimes overcome. Relationships between two individ-
uals both of whom are autistic appear to have a better chance of lasting. A couple
described by Sacks (1995: 263-264), for example, both of whom had a diagnosis
of Asperger syndrome, reported how they met at college and recognised each
other’s autism with a sense of ‘affinity and delight’. This had kept them together,
living out their autism with their two autistic children in the privacy of their
home, and ‘acting normal’ in their public lives.
Life without a long-term partner, and effective celibacy, may reflect social
inadequacy rather than a lack of interest in sexual relationships, especially in
males (Mehzabin & Stokes, 2011). Masturbation is common, and is supported
in appropriate circumstances for those for whom a sexual relationship is not a
realistic possibility. For a small proportion of individuals the lack of a ‘girlfriend’
or ‘boyfriend’, and sometimes specifically the lack of a sexual partner, is a source
of distress and obsessive concern that can lead to inappropriate or even criminal
behaviour, though this is rare (Stokes & Kaur, 2005).
Friendships Many people with ASD become interested in having friends of their
own age as they mature (Bauminger & Shulman, 2003). However, fewer than
a quarter of adults with autism are reported to have friendships that have been
made by the individuals themselves as opposed to, for example, ‘befriending’ rela-
tionships (Orsmond et al., 2004). The nature and quality of the friendships made
are also somewhat limited, being typically based on a shared interest or hobby
rather than on personal intimacy. Sometimes friendships are made with someone

81
What is Autism?

who has a disability of a different nature, where there can be mutual support. One
such friendship that has lasted many years is described in Box 5.2. _

Box 5.2 Friendships that endure

‘David’ is now in his 40s, living in his own flat, and working, as he has done for
several years, in a university library, where his job is to fetch old books or doc-
uments from storage in the basement when these are requested by readers.
Although a superficially outgoing person, David is self-preoccupied and finds rela-
tionships difficult. He likes to stick to routines, and has obsessive and often anxious
thoughts that dominate his conversation. He has never been diagnosed as having
ASD, though he knows that he is sometimes described as autistic; and it is doubt-
ful whether a diagnosis would now have positive or negative effects’on his life
(it might be just one more thing to worry about).
David has a friend whom he has known for many years. This friend has well-
controlled schizophrenia and lives locally. The pair generally meet twice a week,
once at the friend’s home and once at a local café for a drink and a snack.
Occasionally they have a meal together or visit relations for a day out. David's prac-
tical competencies enable him to organise these trips, and to ensure his friend’s
wellbeing (e.g. reminding him to take his medication). Equally, the young man with
schizophrenia is socially undemanding and good-humouredly tolerant of David’s
obsessive behaviours and anxieties. They understand each other, and are under
standing of each other’s idiosyncracies, as friends should be.

Social media have greatly increased possibilities for forming relationships ‘at a dis-
tance’, and many able individuals with ASD write blogs or have Twitter accounts, or
share problems and solutions through sites such as Facebook. There are, in addition,
numerous dating sites catering specifically for people with the ‘Asperger syndrome’
diagnosis, and a few offering ‘friendship or dating’ to people with ASD more gener-
ally. There are clearly some risks attached, especially to less able individuals. Overall,
however, communication via keyboard and screen, where nonverbal communi-
cation signals play a vestigial role, offers the ideal medium for people with ASD,
bringing with it a massive increase in socialising possibilities. The longer-term effects
on individuals remain to be seen, but are likely to prove positive.
Other relationships Lower-functioning individuals with ASD are likely to depend
for their social relationships on family or other carers. These relationships are often
close and central to the individual’s sense of security and quality of life. However,
such relationships are dependent in nature, and reliant on the skills and commit-
ment of the close carer. Looser relationships may also be formed within residential
groups or within groups associated with work or leisure activities, as outlined next.
Leisure activities

Leisure activities tend to be predictable for any one individual with ASD, and often
solitary — or at least of a kind that can be enjoyed with or without the company

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 Epidemiology and Lifespan Development

of others. The most able, usually those who live and work without support, enjoy
computer-related activities, listening to music, travelling, photography, reading
(though novels are almost never on the list), while finding informal socialising
difficult and stressful.
In their study of social activities in a large group of mixed ability adoles-
cents and adults with autism, Orsmond et al. (2004) found that three-quarters
of the group spent time walking or taking some other form of exercise each
week; nearly half spent at least some time on a particular hobby; a third took
part in some group recreational activity, often organised for them by others.
A third attended church on a weekly basis. This latter statistic may reflect the
fact that the study was carried out in the US where church attendance is high.
However, churches in the UK are also often involved in informal support. For
example David, described in Box 5.2 above, regularly attends his local church
and church-organised events.
The least able individuals, who may show little initiative in filling their own
time, nevertheless usually have some preferred activity (e.g. leafing through
a mail-order catalogue) and a preferred place to be (their own bedroom or
a quiet corner of a sitting room or garden away from others). These times of
‘doing their own thing’ offer respite from the stresses of conforming to the
expectations and directions of others, and deserve recognition as legitimate
forms of leisure activity.

Hazards
Criminality The risk of an individual with autism committing a punishable
offence is very low (Howlin, 2000). Nevertheless, a study of individuals in three
secure hospitals in the UK found a slightly higher than expected prevalence
of individuals on the autism spectrum (Hare et al., 1999). The majority of
these individuals had additional problems, including severe intellectual disabil-
ity or a mental health condition. The crimes for which they were imprisoned
involved violence against people or property, with an unusually high rate of
arson. Several of the individuals studied had obsessive interests in violence of
one kind or another, including wars, weaponry or Nazism. Hare et al. reported
a low rate of sexual violence in these individuals. However, Attwood (1998)
noted that higher ability males with ASD who access pornography websites
may inadvertently offend because they take the behaviours depicted on such
websites to be the norm. Recent studies highlight the need for training prison
staff to recognise and cater appropriately for the needs of offenders with ASD
(see the Special Issue of the Journal of Intellectual Disabilities and Offending
Behaviour, 2013, Volume 4, Issue 1/2; also Murphy and McMorrow, 2015).
Addiction and antisocial behaviour There is no evidence to suggest that indi-
viduals with ASD are more likely than others to become addicted to drugs,
alcohol or gambling. However, as Howlin (2000) remarks, given the rigidity of
behaviour patterns in autism, such behaviours are likely to be difficult to modify,
once established. Other antisocial behaviours are also rare, although inadvertent

83
What is Autism?

offence may be given by inappropriate behaviours (e.g. spitting, or masturbating

in public), and challenging behaviours may be misinterpreted as intentionally
offensive when in fact resulting from stress or frustration. Acts that cause injury
are more likely to be self-directed than other-directed, although this is not invar-
iably the case.
Accidents and illness ‘These are more common in people with ASD than in the
general population, especially in the less able (Shavelle et al., 2001). Occasional
cases of attempted suicide are reported in children with autism, regardless of IQ,
in whom suicidal thoughts are unusually common (Mayes et al., 2013). Teasing
and bullying were identified as significant factors putting autistic children at risk
of suicidal thoughts and/or attempts. In high-ability adolescents and adults with
ASD, rates of suicide and attempted suicide are also unusually high, as noted in
Chapter 4, and often associated with feelings of social inadequacy, anxiety and
depression (Shtayermman, 2008; Kato et al., 2013).
Life expectancy
Life expectancy is lower in people with ASD than in the general population.
Three major studies (reviewed by Mouridsen, 2013) have shown that death rates
are three times higher in young or middle-aged adults with ASD than in the gen-
eral population. Lowered life expectancy does not appear to be associated with
premature ageing or other deterioration, but rather with learning disability and
vulnerability to accidents, often in association with seizures (Bilder et al., 2013).
The studies reviewed by Mouridsen also found an association with gender, females
being more vulnerable than males, for reasons not understood.

Judging Long-term Outcomes

The kinds of hopes and expectations of parents of typically developing children

outlined at the beginning of the section on adult outcomes are, of course, those
that parents of children with ASD might have had for their children in advance
of discovering that their child is autistic. Judged by these criteria, outcomes for
people with ASD may indeed be rated as ‘poor’ or ‘very poor’ in 58 per cent of
cases (Howlin et al., 2004).
Judged by different criteria, for example ‘the best possible outcome for that
individual’, outcomes might still be judged to fall far short of ‘very good’ or
‘good’ for many individuals, with large cultural differences associated with
available services and social attitudes. However, the real-life cases of Nancy and
David, outlined in Boxes 5.1 and 5.2, illustrate how a reasonably good quality
of life can be enjoyed by individuals with autism, including those who are quite
low-functioning. This suggests that adult outcomes may be more meaningfully
judged in terms of maximising the quality of life for individuals, rather than
in terms of how ‘normal’ or ‘successful’ they are. Issues relating to appropriate
goals of intervention, education and care for people with ASD are discussed
further in Chapters 12 and 13.

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 Epidemiology and Lifespan Development

SUMMARY
The frequency of occurrence of autism is usually estimated in terms of prev-
alence: that is, the proportion of individuals within a total population sample
who have a diagnosis of autism at a particular point in time. Estimates of the
prevalence of autism have risen since the 1980s, and continue to rise. If autism
really has become more common, it will be of vital importance to search for
the environmental factors underlying this increase. However, there are several
reasons why increased prevalence may be more apparent than real: definitions
of autism have broadened, especially at the ‘borderline normal’ end of the spec-
trum; public awareness of autism has increased; and diagnostic services are more
available now than in the past.
Males outnumber females across the spectrum, to a greater extent at the top
end of the ability range than at the lower end. However, it is increasingly suggested
that ASD is under-diagnosed in more able girls and women. If this is true, and can
be corrected, the ratio at the top end of the spectrum may change. No reliable
geographical or racial differences in the distribution and prevalence of ASD have
been reported, but evidence on this point is lacking. The early claim that autism
occurred more often in families of middle or high socio-economic status has been
largely disproved. However, some very slight doubt remains relating to this issue,
and here again further research is needed.
Regarding age of onset, a clear-cut distinction between ‘early onset autism’ and
‘regressive autism’ is increasingly questioned. However, it remains true to say that
in a majority of cases, autism-related behaviours emerge within the first two years
of life, after apparently normal early development. In a minority of cases, normal
development may continue into the third year prior to a loss of skills and onset of
autism-related behaviours. It is unclear as to whether or not these ‘regressive’ cases
are triggered by some event (e.g. illness or trauma) in the child’s life. Occasional
cases of ‘acquired autism’ have been reported in older children or adults, associ-
ated with diseases that damage certain parts of the brain. In such cases, the autistic
symptoms do not generally persist.
In some ways, people with ASD do not change with development. In par-
ticular, autism-related behaviours rarely completely disappear, however much
improvement is achieved through appropriate care and intervention. In addition,
the individual’s innate capacities for language and learning remain more or less
constant, as they do in people without ASD, significantly influencing life-long
development. However, many positive changes do occur. In the majority of indi-
viduals, the severity of the abnormalities and impairments associated with autism
reduces, and behaviour becomes more ‘normal’ over the years. Exceptions to this can
occur, however, particularly during adolescence when some - usually temporary —
regression is not uncommon. Behaviour can also regress at times of stress, but
such regression is usually transient if the sources of stress can be minimised.
There is a very slightly raised risk of being detained in a secure institution for

85
What is Autism?

a criminal offence (often related to a particular obsession); and a significantly

reduced life expectancy, largely explicable in terms of comorbid epilepsy and
learning disability, increasing vulnerability to accidents.
Adult outcomes have been judged in various studies to be ‘very good’ in a small
minority of cases, and ‘poor’ or ‘very poor’ in the majority, based on measures of
academic success, employment, independent living, life relationships, friendships
and leisure activities. However, if adult outcomes are judged in terms of maxim-
ising the quality of life for individuals, rather than in terms of how ‘normal’ or
‘successful’ an individual is, a more positive picture emerges, given appropriate
care and support.

86
 PART II

WHAT CAUSES AUTISM?

 A FRAMEWORK FOR
EXPLAINING AUTISM

WHY EXPLAINING AUTISM IS IMPORTANT

COMPLICATIONS AND SIMPLIFICATIONS

Identifying a Realistic Agenda
Keeping the Explanatory Levels Apart and Putting Them Together
Simplifying the Search for Causes

ASSHooING THE MERITS OF CAUSAL THEORIES

Some Points to Bear in Mind
Criteria for Judging the Strength of Theories

SUMMARY
What Causes Autism?

AIMS
The main aim of this chapter is to establish a framework for thinking about causal
explanations of autism, to be used in subsequent chapters in Part Il. Additional
aims are to stress the importance of understanding the causes of autism, and to
foster a critical approach to theoretical explanations of autism.

WHY EXPLAINING AUTISM

IS IMPORTANT
It is of considerable practical importance to understand the causes of autism.
Better understanding is needed to reduce the prevalence and symptom severity of
debilitating forms of ASD that are associated with low learning and language abil-
ity and multiple medical and behavioural problems. The desirability of preventing
or curing ‘pure’ autism in high-functioning individuals is questionable (see the
opening section of Chapter 12). However, helping such people to achieve their
potential, and also treating the distress that has warranted a diagnosis in the first
place, is clearly desirable. To do this effectively it is necessary to understand the
causes of the problems they face.
Although far from complete, the process of unravelling the proximal! (nearest:
most immediate) neuropsychological causes of autism has already contributed to
establishing rationales for psychosocial, behavioural and educational intervention
(see Chapter 12). When the intermediate neurobiological causes — i.e. abnormal-
ities of brain structure, chemistry and function — in autism are better understood,
it is certain that pharmacological and possibly other physical treatments will be
developed that effectively target specific aspects of behaviour, possibly in spe-
cific subgroups of individuals. Identification of etiological causes of autism is
important for prevention. The identification of environmental factors that may
be involved is particularly urgent and potentially important, because environ-
mental factors may be modifiable, offering the prospect of reducing the incidence
of ASD and associated problem behaviours. Understanding the genetic abnor-
malities that can cause, or make an individual vulnerable to, autism may also
contribute to prevention in the future. :
There are also theoretical spin-offs from investigations into the causes of ASD.
In particular, such research should contribute to what is known about the links
between brain and behaviour in typical development, and to understanding links
between the functions of particular genes in shaping normal brain development.
These advances in knowledge should have practical applications for the health and
wellbeing of many groups of children.

‘Words or phrases in bold type on first occurrence can be found in the Glossary

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 A Framework for Explaining Autism

COMPLICATIONS AND SIMPLIFICATIONS

Identifying the causes of autism is an exceedingly complicated and difficult
undertaking, for the following reasons.

e Autism is a complex condition affecting very many aspects of behaviour. It is also very var-
iable in the ways in which it is manifested in different individuals and at different stages of
development, as emphasised in earlier chapters.
e There are three broad levels at which accounts of the causes of autism-related behaviour
may be pitched, as identified in the second paragraph of this chapter. Not only must the
causes of manifest behaviours associated with ASD be understood at each of these levels
separately; in addition, ways in which the different levels of explanation relate to each other
must also be identified, as shown by the arrows in Figure 6.1.
e There is no simple explanation of autism: the causes of autism-related behaviours are
complex, cumulative and interactive.

In the next three subsections more will be said about each of these sources of
difficulty in turn, with an explanation of the strategies to be used to simplify the
material to be presented in subsequent chapters in Part II.

Identifying a Realistic Agenda

In the long term it may be possible to explain all the myriad bits of the puzzle which
is autism: why age of onset varies; why young children with autism often have
larger-than-usual heads; why they are often fussy eaters; why they so commonly

Manifest behaviour —
interactive factors

Psychological processes —
interactive factors

| Neurobiology — |
interactive factors

Etiology —
interactive factors

Figure 6.1 Causal links that must be established

91
What Causes Autism?

develop epilepsy; the relationship between autism and exceptional achievement;

why autism has not been removed from the gene pool by natural selection; and so
on and so forth — an impossible agenda given the limitations of current knowledge.
In the shorter term, therefore, the priority is to understand the causes of the diag-
nostic behavioural characteristics: ;

° Socio-emotional-communicative impairments and anomalies (SEC impairments).

e Restricted and repetitive behaviours, including sensory-perceptual anomalies (RRBs).

It is also important to understand the causes of the two most common and jointly
debilitating specifiers:

e Learning disability.
e Language impairment.

Subsequent chapters in Part II will focus on this simplified agenda.

Keeping the Explanatory Levels Apart and

Putting Them Together

In subsequent chapters in Part II, theories and evidence relating to causes of

ASD-related behaviours will be considered at each explanatory level separately.
Specifically, Chapter 7 considers what is known about the etiology (distal or ‘root’
causes) of the four sets of ASD-related behaviours listed under the bullet points
above. Chapter 8 considers the neurobiology (‘brain bases’) of these ASD-related
behaviours. Chapters 9 and 10 summarise current theory and evidence relating
to the neuropsychology (proximal or ‘immediate’) causes of SEC impairments
and RRBs, and of learning disability and language impairment. Links between
explanatory factors at different levels of explanation are referred to where these
have been reliably demonstrated.
Most space is given to explanation at the neuropsychological level for vari-
ous reasons. First, more is known about the neuropsychology of ASD-related
behaviours than about either the etiology or neurobiology underlying these
behaviours. In the second place, educational, psychosocial and behavioural
treatment methods should ideally be based on a detailed understanding of
the neuropsychological processes underlying the patterns of ability and dis-
ability that typically occur in people with ASD. In this connection, it might
be argued that understanding the neurobiology and especially the etiology of
ASD could lead to prevention or cure, and that these aims should take priority
over improvements to educational or behavioural treatments. However, the
desirability of eliminating autism from the population may be questioned (see
Chapter 12), whereas interventions that increase day-to-day competencies
and decrease maladaptive behaviours are unarguably desirable. A third, purely
pragmatic reason for the imbalance between space given to neuropsychology as
opposed to other levels of explanation is that etiology and neurobiology both

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 A Framework for Explaining Autism

involve specialised knowledge too detailed to include in this book. Only the
most basic information about these subjects is therefore covered in Chapters 7
and 8, with references cited where fuller accounts can be found.

Simplifying the Search for Causes

A diagram representing the causal links that may be implicated in any complete
explanation of autism, let alone of autistic behaviours in any one individual, would
show a dense tangle of cause-effect links. Major sources of this complexity are
outlined below, before ways of simplifying the search for causes are suggested.

Sources of complexity
No single causal pathway Early attempts to explain autism focused on expla-
nations implicating a single causal factor, or ‘single common pathway’, at one or
another level of explanation. Some of these early theories were mentioned in
Chapter 1. These, and other examples of single common pathway theories, are
shown in Box 6.1.

Box 6.1 Some single common pathway theories

At the etiological level
Genetically determined oversensitivity to oxygen (as administered at birth)
(Rimland, 1964).

At the neurobiological level

Abnormal function of the reticular activating system in the brain (Hutt et al.,1964).
Abnormal function of the vestibular system in the brain (Ornitz & Ritvo, 1968).
Basal ganglia and mesial frontal abnormalities (Damasio & Maurer, 1978).

At the neuropsychological level

Lack of innate capacity for emotional relatedness (Kanner, 1943).
Faulty conditioning (Ferster, 1961).
Cold or neglectful parenting, especially by the mother (Bettelheim, 1967).
Severe language disorder (Churchill, 1972).
Defective understanding and use of symbols (Ricks & Wing, 1975).
Defective sequencing ability (Tanguay, 1984).
Impaired theory of mind (Baron-Cohen, 1989).

Single common pathway explanations of autism are attractive because they are
parsimonious. However, single factor theories of ASD are undermined by evidence
relating to what has been called the broader autism phenotype (BAP) or lesser

93
What Causes Autism?

variant autism (Pickles et al., 2000; Wilcox et al., 2003; Dawson et al., 2002). This
evidence shows that it is quite common for relatives of individuals with ASD to
show signs of one or another kind of autism-related behaviour, in isolation from
any other signs. A sibling, for example, may be something of a loner, but is not
obsessive or routine-bound, and has good language. A father may be an avid col-
lector of something, but at the same time sociable and articulate. An aunt may
have had speech and language therapy as a child, and was slow to learn to read, but
she has no problems with personal relationships and is not one-track minded or
routine-bound. Evidence that gave rise to the concept of a broader autism phe-
notype, or lesser variant autism, shows that the SEC impairments and RRBs that
define ASD — also vulnerability to language/learning impairments — are dissocia-
ble: any one of them can occur without the others. It follows that they must have
at least partly different causes (Happé et al., 2006). ‘
Many-to-one and one-to-many Life would be easier for those seeking to under-
stand the causes of autism if each facet of autism-related behaviour had a
single, clear-cut explanation at each level — etiological linking to neurobiological
linking to neuropsychological. Unfortunately this is not the case. For example,
impaired mentalising may be a critical cause of SEC impairments, as is suggested
in Chapter 9. However, obsessive interests, abnormal sensory perception, and
poor language comprehension, if present, may also contribute. Similarly, RRBs
(including sensory-perceptual anomalies) may possibly result mainly from poor
control of arousal levels, as is also discussed in Chapter 9. That said, anxiety,
maladaptive learning or comorbid obsessive-compulsive disorder may also con-
tribute. The phrase ‘many-to-one’ (coined, I think, by Uta Frith) neatly captures
the fact that each facet of autism-associated behaviour has many contributory
causes (see Figure 6.2a).
At the same time, a single causal factor can have multiple effects. For example
(and again considering only the neuropsychological level of explanation), impaired
mentalising is not only a critical cause of SEC impairments, but also an important
cause of impaired sense of self and a cause of certain anomalies of language. Hence
the phrase (also Frith’s) ‘one-to-many’ (see Figure 6.2b).

Multi-directional causal links It might be assumed that links in the chain of

causes and effects always travel ‘upwards’, as suggested by the central arrows in
Figure 6.1: that is to say, from root causes to brain bases to the immediate neu-
ropsychological causes of manifest behaviour. Unfortunately, yet again, the reality
is not in fact so simple: as well as ‘forwards’ cause-effect links, there are also ‘side-
ways’ causal links. For example, at the neuropsychological level, impaired ability
to recognise faces aggravates a pre-existing lack of interest in, and lack of attention
to, faces, which then feeds backwards into the original recognition impairment,
making it worse than it originally was. Similarly, at the neurobiological level, a
congenital abnormality in a subcortical structure that normally sends information
to certain cortical structures will affect the development and function of those
cortical structures. At the etiological level it is likely that genes underlying vulner-
ability to autism are interactive as well as cumulative.

94
 A Framework for Explaining Autism

(a) ‘Many-to-one’

Resistance
to change

( "
Y | difcuty)
ve

(b) “One-to-many’

Enhanced Hyper- Attention to ;

: yee
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Impaired
processing of
wholes (‘weak
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Figure 6.2 Examples of (a) ‘many-to-one’ and (b) ‘one-to-many’

Individual differences Many of the causal factors mentioned above as possibly

contributing to autistic behaviour do not apply to everyone with autism. The
whole complex of interactive causal factors contributing to autism-related behay-
iours in any one individual will therefore be unique.
Simplifying the search for causal factors
In view of the complexity and diversity of causal pathways to autism in its various
forms, let alone in unique individuals, the following simplifying strategy will be
used in subsequent chapters in Part II.
Only the most important causal factors at each level of explanation will be con-
sidered. These will be referred to as ‘critical causes’ or ‘critical causal factors’. Such
critical factors are those that may be necessary and/or sufficient to cause a certain
set of autism-related behaviours to develop. By ‘necessary’ is meant that a par-
ticular causal factor must be present for a particular effect to occur. For example,
the AIDS virus is a necessary cause of AIDS: people do not develop AIDS unless
exposed to the virus. It is also a ‘sufficient’ cause, because nothing else is needed
for AIDS to occur. By contrast, there is no necessary cause of an ailment such as
toothache. Rather, toothache can occur for a number of reasons such as an abcess,
caries or breaking a tooth, any of which can be sufficient for it to occur, but none
of which is a necessary cause — because there are alternatives.

95
What Causes Autism?

It is safe to assume that there are certain necessary and/or sufficient causes of
each of the defining impairments in ASD, and of the major specifiers. In what
follows, these critical causes will be explored. The contributory role of factors
which are neither necessary nor sufficient to explain facets of autism-related
behaviour may be mentioned, but will not be discussed in detail. Parents, teach-
ers, therapists and others in day-to-day contact with specific individuals on the
spectrum do not, of course, have the luxury of simplifying in this way. For them,
in order to understand and respond appropriately to a particular behavioural
difficulty or stumbling block to learning, it may be necessary to unravel a whole
complex of causes.

ASSESSING THE MERITS OF

CAUSAL THEORIES
At present no one knows for certain what causes autism, whether in terms of root
causes, brain bases or neuropsychological anomalies. It is essential, therefore, to
keep an open mind, but at the same time to be critical, in the best sense of that
word, when considering theories of the possible causes of autism. In what follows,
some points to bear in mind when critically appraising the merits of any particular
theory are suggested.

Some Points to Bear in Mind

Recent does not necessarily mean right

The list of ‘single common pathway’ explanations of ASD, outlined in Box 6.1,
shows that explanatory theories come and then usually go, to be superseded by
other theories, which are superseded in their turn. Each of the early theories was
among the most recent when first presented, but most were subsequently rejected.
There is no reason to suppose that this process has entirely ceased, although
with the benefit of 50-60 years of research, recent theories are more securely
evidence-based than earlier theories.
Old does not necessarily mean wrong
That said, old theories should not be entirely discounted. Sometimes a theory is
largely ignored when first proposed, but is recognised years later as having been
ahead of its time. For example, in 1943 Kanner proposed that autism derives
from ‘an innate inability to form the usual biologically provided affective con-
tact with people’. This theory was ignored for several decades because, first,
psychoanalytic explanations of autism dominated the literature; then behaviour-
ist explanations; then explanations based on thinking of the brain as if it were
a computer — ‘information processing’ models. Fifty years after it was first pro-
posed, Kanner’s theory that ASD is an innate, brain-based condition was revived
(by Hobson, 1993, in particular) and is now seen as consistent with mainstream

96
 A Framework for Explaining Autism

contemporary theories, as will become clear in Chapter 9. Similarly, the theory

that dysregulation of arousal levels may explain RRBs in ASD, also discussed in
Chapter 9, was first proposed by Hutt et al. in 1964. Consider also one of the
earliest attempts to establish a set of diagnostic criteria for ASD, namely ‘Creak’s
Nine Points’ (see Box 1.2). These included ‘abnormal response to perceptual
stimuli’, now reinstated within diagnostic criteria after many years of absence;
and ‘apparent unawareness of personal identity’, a characteristic confirmed by
recent research, but little commented on in the intervening period.
It is also important to appreciate that theories receiving even temporary rec-
ognition are not plucked out of thin air: they are all based at the very least on
observation and experience, and usually also on evidence from research. So, for
example, Bettelheim’s psychoanalytic theory was based on evidence that moth-
ers’ relationships with their young autistic children are abnormal. It was later
realised that this is not because these mothers are by nature cold and uncaring, as
originally suggested, but because it is difficult, often unrewarding and sometimes
distressing to try to establish a loving, interactive relationship with a young child
with autism, especially if the nature of the child’s problem is not at first under-
stood. It is now widely recognised that parents and other main carers of young
children with ASD may need support and advice as to how best to establish a
loving relationship with their difficult child, and perhaps how to cope with their
own feelings of disappointment and frustration.
Who says?
The people who know about autism in vivid detail are people who are themselves
autistic, their families, carers, and others in day-to-day contact with them. Any
theory that is not informed by, and consistent with, the experience of the majority
of those closely involved with autism is not likely to be correct. Research findings
generally confirm what parents, teachers and high-functioning people themselves
know. Research may clarify or extend what ‘insiders’ know, while rarely conflicting
with it (and when it does, it is generally the research that needs to be looked at
again). Equally, anecdotes or observations from insiders’ accounts are often the
seed corn for a particular theoretical hypothesis. For example, the first study of
pretend play with which I was involved, carried out at a time when it was com-
monly said that children with autism cannot pretend, was motivated by a teacher
telling me that a not very able girl with autism had returned from a visit to a
stately home and trailed a coloured scarf behind her, saying ‘bird’: she had seen
peacocks on her day out!
People with ASD and those who care for and work with them may not, how-
ever, be in a good position to see the bigger picture: they see one, or a few, of
the trees in vivid detail, but not the whole wood made up of many and diverse
trees. Researchers and theoreticians have their eyes on the wood as a whole.
Reliable evidence about autism in general must therefore come from research
studies, and these must be properly conducted and properly interpreted. Well-
conducted, appropriately interpreted research studies are most likely to be
found in journals that use the vetting process of peer review. Research reports
that are published without peer review constitute what is known as the grey

97
What Causes Autism?

literature. It is wise to be aware of the theories and evidence being discussed

in the grey literature: there is rarely smoke without fire, and much of the grey
literature is written by parents or clinicians who have detailed experience of
autism. However, the more reliable source of evidence and theories concern-
ing the causes of autism is the peer-reviewed journals. All the research studies
referred to in subsequent chapters are published in journals with a high stand-
ard of peer review.

Criteria for Judging the Strength of Theories

When judging the explanatory power of theories relating to autism, the following
criteria should be borne in mind.
Specificity criterion According to this criterion, if a theory proposes that crit-
ical factor x is necessary and sufficient to cause a particular facet of autism,
then factor x (whether at the etiological, neurobiological or neuropsychological
level of explanation) must be specific to, that is to say, unique to, people with
ASD. If factor x is not specific to individuals with ASD there is a problem of
explaining why other individuals, to whom factor x also applies, do not show
autistic behaviours. For example, it was proposed for a time that an impairment
of explicit theory of mind (see Chapter 3) is the critical cause of the socio-
emotional-communicative impairments diagnostic of autism. However, typi-
cally developing children below the age of 3 years 6 months, as well as many
learning disabled individuals, also fail tests of explicit ToM, but are not autistic.
This impairment cannot, therefore, be the necessary and sufficient cause of
SEC impairments in ASD.
Universality criterion This criterion states that if a theory proposes that critical
factor x is a necessary (even if not sufficient) cause of one of the defining or addi-
tional shared features of autistic behaviour, then factor x must be shown to occur
universally in all individuals with ASD. If not universally present, then factor x
cannot logically be a necessary cause of that facet of autism-related behaviour, For
example, if it is proposed that impaired mindreading is a necessary cause of SEC
impairments in autism, then it must be shown that all individuals with ASD have
impaired mindreading.
Primacy criterion The primacy, or ‘causal precedence’, criterion requires that
factor x must occur at an earlier developmental stage than the abnormality
that factor x is supposed to explain. This is because it is a law of nature that
causes precede effects. The original much-hyped 1980s/1990s ‘impaired the-
ory of mind’ explanation of socio-emotional-communicative impairments in
ASD failed on this criterion, because SEC impairments occur in infants with
ASD usually within the first 30 months of life. Because the ability to pass
explicit ToM tests does not mature in typically developing children until much
later than this, lack of an explicit ToM cannot explain the early signs of SEC
impairments in autism.

98
 A Framework for Explaining Autism

SUMMARY
It is important to understand the causes of autism in order to progress towards
better treatments and possible prevention of debilitating forms of ASD at some
future time. Understanding the causes of autism will also contribute to under-
standing brain development and brain—behaviour relations in typically developing
children.
However, explaining autism is difficult, for numerous reasons. These include the
fact that autism is a complex condition affecting very many aspects of behaviour.
It is also very variable in the ways in which it is manifested in different individuals
and at different stages of development. In addition, there are three broad levels
at which accounts of the causes of autism may be pitched: the etiological or ‘first
causes’ level; the neurobiological or ‘brain bases’ level; and the neuropsychological
or ‘immediate causes’ level. Not only must the causes of autism be understood at
each of these levels separately; the ways in which etiological factors give rise to
neurobiological abnormalities and anomalies, which in turn cause neuropsycho-
logical abnormalities, must also be identified. Moreover, there is no single critical
cause, no ‘single common pathway’, at any of the three levels of explanation.
Instead, it is certain that the causes of autism-related behaviours are complex,
cumulative, interactive and to some extent individualistic.
Some ways of simplifying the explanatory task are outlined, to be used in sub-
sequent chapters of Part II of this book. These include the following: focusing only
on the universal or most common behavioural characteristics; focusing on the
identification of causal factors at each level of explanation separately; and seeking
to identify only the main, or most critical, cause(s) of each of the universal or very
common behavioural impairments, ignoring more minor contributory causes.
Finally, it is important to maintain a critical attitude when considering the rela-
tive merits of particular theories of the causes of autism. The most recent theory is
unlikely at this stage of knowledge to be completely correct; equally, older theories
should not be automatically discounted. The research evidence cited in support of
a particular theory should be carefully considered before being accepted, and the
explanatory adequacy of each theory judged on the criteria of specificity, univer-
sality and primacy.

99
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 ROOT CAUSES

INTRODUCTION
Idiopathic and Syndromic Forms of ASD
The Concept of Risk Factors

GENETIC RISK FACTORS

What are ‘Genetic Risk Factors’?
Evidence for the Involvement of Genetic Factors
Current Knowledge of Genetic Risk Factors for ASD
Genetic Risk Factors and Abnormal Brain Development

ENVIRONMENTAL RISK FACTORS

What are ‘Environmental Risk Factors’?
Evidence for the Involvement of Environmental Risk Factors in ASD
Current Knowledge of Environmental Risk Factors for ASD
Environmental Risk Factors and Abnormal Brain Development

SUMMARY
What Causes Autism?

AIMS
The main aim of this chapter is to provide a brief account of what is currently
known about the etiolagy, or root causes, of autism. Secondary aims of the chap-
ter are: (1) to supply some basic information and terminology relating to genetics,
focusing in particular on those facets of genetics that have particular relevance
for the etiology of ASD; (2) to ensure a broad understanding of what is meant by
‘environmental factors’; (3) to stress the likelihood that almost all cases of ASD
result from unique combinations of several genetic and/or environmental factors,
single-cause cases being unlikely to occur; (4) to link the cumulative and heteroge-
neous nature of causal factors involved in individual cases to heterogeneity among
outcomes. A final aim is to stress that knowledge in this field is incomplete, with
many issues in need of further investigation. 5

INTRODUCTION
Idiopathic and Syndromic Forms of ASD

The root causes of 85-90 per cent of cases of ASD are poorly understood. The
medical term for conditions that arise from within an individual for unclear rea-
sons is idiopathic. This chapter is mainly concerned with what is known about the
root causes of idiopathic ASD.
However, as indicated in the set of possible ‘specifiers’ in DSM-5 diagnostic
criteria, ASD occasionally co-occurs with some other developmental syndrome -
for example, Down syndrome — the cause of which is known. Such cases may be
referred to as syndromic autism/ASD.' There are many forms of syndromic autism
(Freitag et al., 2010; Miles, 2011) which can provide clues as to the causes of idio-
pathic ASD. Some forms of syndromic autism will therefore be mentioned below
where relevant for understanding the causes of idiopathic autism. It is impor-
tant to note, however, that cases of syndromic ASD cannot be fully explained in
terms of the known cause, or causes, of any accompanying medical syndrome. If
the genetic anomaly underlying, for example, Down syndrome were sufficient
to cause ASD, then all individuals with Down syndrome would also have ASD —
which is clearly not the case.

The Concept of Risk Factors

There is no single cause of autism, as pointed out in the previous chapter. Rather,
it is likely that there are many ‘risk factors’, none of which is by itself either nec-
essary or sufficient to cause ASD, but which, if occurring together in certain
combinations, become sufficient.

‘Words or phrases in bold type on first occurrence can be found in the Glossary

102
 Root Causes

Possible risk factors for developing ASD fall into two groups: genetic and
environmental. These are not mutually exclusive. It is likely, for example, that
cases of late-onset ASD result from an environmental ‘trigger’ impinging post-
natally on an individual with a genetic vulnerability to the development of ASD.
An example of where this may have happened is described in Box 7.3 later in
the chapter. It is also likely that a range of environmental factors originating in
the mother’s mental and physical health, and her exposure to or ingestion of
certain substances during pregnancy interact with genetic risk factors prenatally
to cause early-onset ASD.
‘Risk factors’ for ASD, whether solely genetic, solely environmental, or a com-
bination of the two, contribute to the development of a unique individual. This
unique individual outcome can be described as a phenotype. However, the term
‘phenotype’ can also refer to outcomes characteristic of a particular group. Thus
reference is sometimes made to an ‘autism phenotype’, which describes people
with typical autism, or to the ‘broader autism phenotype’ (BAP), which refers to
people with mild autism-related behavioural traits, as described in Chapter 6.
Genetic and environmental risk factors are considered separately below. In each
case, an explanation of what constitutes a genetic (or environmental) risk factor
is given first. Evidence showing that genetic (or environmental) risk factors are
involved in the etiology of ASD is outlined next. The current state of knowledge
concerning genetic (or environmental) risk factors follows. Finally, there is a brief
section outlining how the risk factors that have been identified may contribute to
abnormal brain development and function.

GENETIC RISK FACTORS

What are ‘Genetic Risk Factors’?

Genetic risk factors may be associated with the chromosomes inherited from bio-
logical parents, the genes that make up the chromosomes, the constituents of genes
and gene products, and the DNA between genes that may influence gene expres-
sion. An individual’s complete genetic inheritance is referred to as their genome.
However, when selective aspects of genetic inheritance are being discussed, usually
in relation to particular traits — for example height, hair colour, or vulnerability to
particular diseases — the word genotype is more commonly used. Every individu-
al’s genome is unique except in the case ofidentical (or monozygotic (MZ)) twins,
who develop from the same fertilised egg. Twins who develop from different fer-
tilised eggs do not share identical genomes, and are referred to as dizygotic (DZ)
twins. The genomes of dizygotic twins are no more and no less alike than those of
non-twin siblings.
Unlike the genomes for very simple organisms, human genomes do not provide
a blueprint for development. Instead, they set constraints on development ensuring
that a human baby develops (and not something quite different), and that lifetime

103
What Causes Autism?

changes involving growth, maturation and ageing occur in species-predictable ways.

Within these constraints the genes and their products generally have regulatory and
mutually interactive roles rather than prescriptive roles. This allows for environmen-
tal factors to interact with gene products and influence development.
‘

Evidence for the Involvement

of Genetic Factors

Cases of syndromic ASD

The fact that full or partial forms of ASD co-occur with certain genetically-
determined conditions more often than can be explained by chance, albeit rarely,
shows that a range of genetic anomalies can predispose an individual to the devel-
opment of autism-related behaviour. Some examples are outlinedin Box 7.1.

Box 7.1 Genetic risk factors for syndromic

ASD: Some representative examples

Chromosomal disorders
Individuals with Turner syndrome are females who have only one sex-linked
X- chromosome, instead of the normal pair — ( X X in females; X Y in males).

Individuals with Down syndrome have three copies of chromosome 21 in all or

most cells, instead of the normal pair of copies. This is why another term for Down
syndrome is ‘Trisomy 21:

Prader-Willi syndrome is most commonly caused by structural and functional

abnormalities of genes on the paternal copy of chromosome 15. However, in
approximately 25 per cent of cases the affected person has two copies of chro-
mosome 15 inherited from his or her mother instead of one copy from each
parent.

Single gene disorders

In Fragile-X syndrome a single gene on the X-chromosome — the ‘FMR1’ gene — is
affected. ‘FMR’ stands for ‘Fragile-X Mental Retardation: Obviously this gene was
named after the link with this particular syndrome had been established.

In Tuberous Sclerosis Complex, a single gene — either the TSC1 gene on chro-
mosome 9 or the TSC2 gene on chromosome 16 — is affected. ‘TSC’ stands for
‘Tuberose Sclerosis Complex; the name having been given after the link with the
syndrome had been established.

In Phenylketonuria (PKU), a single gene on chromosome 12 — the PAH gene — is

affected. ‘PAH’ stands for phenyl-alanine hydroxylase, which is an enzyme needed
to extract certain protein-building nutrients from food. The PAH gene provides the
instructions for making this enzyme. (NB: If detected early, PKU is treatable.)

104
 Root Causes

Twin studies
Studies of twin pairs (reviewed by Ronald & Hoekstra, 2011) show that in monozy-
gotic (MZ) twins, one of whom has ASD, the second twin is highly likely to have
ASD also. Moreover, of those second twins who do not have the full set of behav-
iours diagnostic of ASD, many show some facets of autism in their behaviour, i.e.
they can be described as falling within the broader autism phenotype (BAP). In
dizygotic (DZ) twins, on the other hand, far fewer second twins either have ASD
or fall within the BAP. The differences between typical outcomes for second twins
from MZ twin pairs as opposed to DZ twin pairs are shown in Figure 7.1. The
precise percentages of second twins who have ASD, or fall within the BAP, vary
slightly across the various studies reviewed by Ronald and Hoekstra. However,
the percentages illustrated, taken from Bailey et al. (1995), are representative.
The high rate of concordance in MZ twins, contrasted with the high rate of dis-
cordance in DZ twins, provides irrefutable evidence that genetic factors strongly
predispose individuals towards developing full or partial forms of ASD.
Family studies
Studies of first-degree relatives (i.e. biological parents and siblings) of ASD
probands (individuals with ASD) show that the chance of an individual with ASD
having a brother or sister who is also autistic, or who has one or another autism-
related behavioural trait, is far higher than can be explained in terms of chance
(Constantino et al., 2010; Geschwind, 2011). The parents of an individual with
ASD are also unusually likely to have some slight behaviour anomaly, either past

Monozygotic twin
10%

60%

Dizygotic twin
10%

[) NoASD G@ ASD traits ASD

Figure 7.1 Typical outcomes for second twins from monozygotic and
dizygotic twin pairs in which one twin has ASD

105
What Causes Autism?

or present, which places them within the BAP (Bernier et al., 2012). Families in
which more than one person has ASD, and/or close relatives fall within the BAP,
are referred to as multiplex families. The common occurrence of multiplex fam-
ilies not only provides evidence of the role of genetic factors in the etiology of
autism, but also shows that these factors are often familial.
Less frequently, ASD occurs in an individual who has no relatives with either
ASD or autistic-like behaviour traits. Such individuals are sometimes referred to
as having sporadic ASD, as opposed to familial ASD; and families in which an
isolated, or sporadic, case of ASD has occurred are referred to as simplex families.
Because they are not familial, it might be thought that all cases of sporadic
ASD must be caused solely by environmental factors. This would be a false infer-
ence, however, for the following reasons. First, many developmental syndromes
(Williams syndrome, Down syndrome, for example) are not familial, but are nev-
ertheless caused by genetic abnormalities. Such syndromes result from damage or
deterioration of genetic material within the egg or sperm, occurring during the
lifetime of one or other parent and commonly associated with parental ageing.
Similarly, it has been shown that a significant proportion of cases of sporadic ASD
are associated with submicroscopic anomalies of genetic material, especially in the
offspring of older fathers (Hultman et al., 2011; Frans et al., 2013). If — as may be
the case in Western societies in which lifelong partnerships are decreasingly the
norm — more older men than previously are fathering children, this could be one
factor contributing to increased prevalence of ASD.

Current Knowledge of Genetic Risk Factors for ASD

A great deal is known about genetic risk factors for ASD. This knowledge comes
from studies using a range of methodologies, some of which are briefly described
in Box 7.2;
Despite the sheer quantity of studies and findings relating to genetic risk factors
for ASD, this knowledge is incomplete, confusing, and often controversial. In addi-
tion, it is developing and changing all the time as more becomes known about the
functions of individual genes in typically developing individuals, and as methods of
genetic assessment become increasingly sophisticated. Because of the uncertain-
ties and rapid rate of change relating to knowledge of genetic risk factors for ASD,
only a brief review of what is known more or less for certain is presented here,
plus some indications concerning ongoing research. More extended reviews can be
found in Betancur (2011), Geschwind (2011), Persico and Napolioni (2013), and
Rutter and Thapar (2014). Readers with particular interest in genetic risk factors
should look for later reviews as and when these become available and publications
cited here become outdated.
Many genetic risk factors
ASD is polygenic in origin: individually, none of the possible or likely genetic risk
factors for ASD, technically known as genetic variants, causes ASD. Cumulatively,
however, and in certain combinations, genetic variants can cause or significantly

106
 Root Causes

Box 72 Methods used in research into the

genetic bases of autism
Genetic screening involves the analysis of DNA samples. The genetic material is
analysed using various strategies, including the following:
Genome-wide association screening (GWAS) may be carried out in a search for
genetic anomalies in a particular population.

Candidate genes may be specifically investigated. For example, it is known that

certain neurochemical system abnormalities are frequently found in people with
ASD, and the genes involved in the normal development of these systems consti-
tute candidate genes.

Linkage studies involve analysing genetic samples from two or more affected
relatives in the same family to see whether there are genetic anomalies held in
common. Genome-wide screening or candidate gene assessment may be used
in linkage studies.

Association studies involve analysing genetic samples from individuals with a

clear diagnosis of ASD and comparing the results with samples from individuals
who are not autistic. Genome-wide screening or candidate gene assessment may
be used in association studies.

Quantitative trait loci (QTL) studies are similar to association studies but more
precise in that, instead of looking for gene abnormalities that are associated with
autism as a whole, they look for gene abnormalities that may be associated with
specific behaviours that occur in autism, such as ‘desire for sameness’ or ‘age of
speech onset:

Cytogenetics is used in the study of chromosomal abnormalities. Techniques

used include the following:
Fluorescence in situ hybridization (FISH test) is used to detect and localise the
presence or absence of specific DNA sequences on chromosomes.

Array comparative genomic hybridization (aCGH) is used to detect chromo-

somal copy number variations (CNVs — see below).
Animal models are used to study the behavioural consequences of eliminating
or ‘knocking out’ a particular gene post-conception. Rodents are the animals most
commonly used. For example, the gene responsible for establishing a neuro-
chemical mediator of social reward is known, and it has been claimed that ‘knock-
out mice’ lacking this gene also lack the kinds of social behaviour that might be
dependent on social reward.

contribute to the development of ASD. There may in fact be ‘tens or perhaps

hundreds’ of genetic risk factors for ASD (Betancur, 2011). Betancur’s challenging
statement implies that the genetic factors that may contribute to ASD are not just
diverse, but probably unique in individual cases (cf the case made in the book by
Waterhouse (2013), referred to in Chapter 4).

107
What Causes Autism?

Shared risk factors

Many of the common genetic variants that have been identified in people with
ASD are pleiotropic, referring to the fact that they also occur in individuals with
other mental health conditions (e.g. schizophrenia) and neurodevelopmental
disorders (e.g. developmental dyslexia, specific language impairment (SLI), atten-
tion deficit with hyperactivity disorder (ADHD) (Cross-Disorder Group of the
Psychiatric Genomics Consortium, 2013; Rutter and Thapar, 2014). Findings of
pleiotropy help to explain why, for example, some facets of schizophrenia overlap
with those of ASD; and why certain neurodevelopmental disorders co-occur with
ASD more frequently than can be explained by chance.
Kinds of genetic variant
There are several different kinds of genetic variants. Some affect whole chromo-
somes, some affect individual genes, and some affect the DNA between genes.
Chromosomal variants A whole chromosome may be missing or re-duplicated, or
have so many missing or structurally abnormal genes that the whole chromosome
is compromised. Some of the developmental syndromes that are present in various
forms of syndromic ASD are chromosomal disorders, including Down syndrome,
Turner syndrome, Fragile-X syndrome, and Prader-Willi syndrome. Certain chro-
mosomal abnormalities therefore constitute risk factors for the development of
ASD, although being neither necessary nor sufficient by themselves to cause ASD.
Gene variants Individual genes may be either missing or re-duplicated (as in
chromosomal variants), or there may be variations in the sequencing of DNA mol-
ecules within a gene. Copy number variations (CNVs) of individual genes (involv-
ing the deletion or duplication of a gene) are in most instances common. They are
therefore sometimes referred to as copy number polymorphisms (CNPs), where
‘polymorphism’ refers to the fact that a particular genetic variation occurs in more
than 1 per cent of the general population. CNPs, or common variants as they are
sometimes called, are ‘normal’ in that they contribute to making every individ-
ual genome unique (except in the case of MZ twins), thereby contributing to
individual differences in physique, temperament, cognitive abilities, and so forth.
The effect on development of any individual instance of copy number variation
is tiny. However, there is evidence to suggest that an accumulation of common
variants in certain combinations may underlie vulnerability to many common dis-
eases and mental health conditions. In the case of ASD there is evidence that over
50 per cent of liability, or vulnerability, to developing ASD results from the addi-
tive effects of inherited common variants (Klei et al., 2012). This finding helps to
explain why certain ASD-related behavioural traits tend to run in families, often
manifesting in mild forms — presumably where there is some accumulation of
certain common variants, but not a sufficient accumulation to produce full ASD.
Not all CNVs are common: some are in fact rare. These rare variants usually
consist of mutations arising de novo in an individual, as opposed to being inher-
ited. Rare mutations have been shown to constitute significant risk factors for the
development of ASD, although of less significance than common variants (CNPs)

108
 Root Causes

(see the review by De Rubeis & Buxbaum, 2015; also chapters in Section 2 of the
book edited by Buxbaum & Hof, 2012).
Genes that are missing, re-duplicated, or structurally abnormal in some other
way, and that have been shown to predispose an individual to the development
of ASD, are referred to as susceptibility genes (for ASD), or candidate genes,
where the link is likely, but not fully established. Some susceptibility genes can be
identified from forms of syndromic ASD that result from disruption of function
of a single gene. Single-gene disorders that can co-occur with ASD include tuber-
ous sclerosis and Williams syndrome. Candidate genes include those known to be
implicated in conditions such as intellectual disability and language impairment,
which are the major specifiers in DSM-5 diagnostic criteria. The process of iden-
tifying those genes most likely to be affected in ASD is ongoing. Given that there
are thought to be approximately 20,000 genes in the human genome, and given
that this figure is itself a matter of controversy, progress towards identifying all
susceptibility genes for ASD is certain to be slow.
Between-gene DNA variants Variations in the sequences of molecules in DNA
situated between genes are common in the general population, frequently involv-
ing a reversal of the order in which two molecules occur in a sequence. Such
variations are referred to as single-nucleotide polymorphisms (SNPs, usually pro-
nounced ‘SNiPS’). SNPs influence how individual genes are expressed: they have
what are sometimes called epigenetic effects. Like other common genetic variants,
they are ‘normal’ in that they help to produce phenotypic diversity and individu-
ality. There is no strong evidence to date to suggest that any specific SNPs consti-
tute risk factors for the development of ASD. Nevertheless, given that so little is
known, relatively speaking, about how genes are expressed, research into SNPs as
possible risk factors for ASD will continue.

Genetic Risk Factors and Abnormal Brain Development

Someone reading the above summary of what is known about genetic risk fac-
tors for ASD might reasonably ask how such numerous and diverse factors,
possibly in numerous and diverse combinations, might all cause or contribute to
ASD. Although there is no clear answer to this question at present, genetic risk
factors for ASD must all, in some way or another, contribute to whatever anom-
alies of brain structure and function underlie ASD-related behaviour (Rutter &
Thapar, 2014).
Belmonte, Cook et al. (2004) described the multiplicity of risk factors for ASD,
whether genetic or environmental, as ‘fanning in’ to produce whatever brain
anomalies underlie autism-related behaviour. In Chapter 8, where the brain bases
of ASD are considered, it will be seen that these anomalies are widely consid-
ered to involve reduced connectivity within and between certain neural networks/
circuits/systems. Guilmatre et al. (2009) noted that the CNVs most likely to con-
stitute risk factors for ASD all occur within genes that contribute to establishing
and maintaining neural synapses. Similarly, Zoghbi and Bear (2012) have argued

109
What Causes Autism?

that the genetic anomalies known to be involved in forms of syndromic autism

would be likely to interfere with synaptic formation and functioning. -
Research aimed at establishing links between known risk factors for ASD and
known brain anomalies associated with ASD is a certain growth area for research
over the next decade, not least because establishing such links is a necessary step
towards developing effective physical treatments (Zoghbi & Bear, 2012).

ENVIRONMENTAL RISK FACTORS

What are ‘Environmental Risk Factors’?

Environmental risk factors may include those operating prenatally with effects on
the developing embryo and fetus; factors operating perinatally, i.e. around the time
of birth; and factors operating postnatally. They may involve internal bodily states,
as well as external factors, i.e. those impinging on the individual from the outside.
Examples of environmental factors associated with internal bodily states
include the fact that each gene operates in an environment created by the activ-
ities of other genes; similarly, each neurochemical involved in brain function
operates in the environment created by other neurochemicals; moreover, brain
function and behaviour are affected by an individual’s physiological state more
generally, including their nutritional and health status. Examples of environ-
mental factors impinging ‘from the outside’ include those associated with the
mother’s bodily state during pregnancy; obstetric and other perinatal inter-
ventions; as well as factors such as illnesses, deprivation, and exposure to toxic
chemicals that may affect development postnatally. It is important, therefore,
not to look for environmental risk factors only among external factors affecting
a child postnatally: environmental factors are much broader than this.
Environmental factors operating from the moment of conception interact with
the given genome, or genotype, to produce a phenotype. There is an increasing
amount of research into ways in which genetic and environmental risk factors
combine and influence each other to produce full or partial forms of ASD: it is
no longer a case of ‘either genetic factors or environmental factors cause ASD’.
Instead it seems likely that ASD-related behaviours most frequently result from
interactions between genetic and environmental factors (Chaste & Leboyer, 2012;
Tordjman et al., 2014; Kim et al., 2015).

Evidence for the Involvement of Environmental

Risk Factors in ASD

Twin studies The findings from twin studies summarised in Figure 7.1 provide
powerful evidence for the role of environmental factors in the etiology of ASD, as
well as for the role of genetic factors. This is because the following facts need to
be explained:

110
 Root Causes

e In approximately 10 per cent of MZ twin pairs, one has ASD and one does not have ASD in
any form, whether full or partial.
e Inthe 60 per cent of cases in which both MZ twins have ASD, learning ability and the sever-
ity and pattern of autism-related behaviours varies considerably, and to no lesser extent
than in DZ twin pairs both of whom have autism (Le Couteur et al., 1996).
e In 30 per cent of MZ twin pairs, one has ASD in its full form but the other has only some fea-
tures of autism-related behaviour. Moreover, this is reflected in differences in brain structure
and function (Kates et al., 2004; Belmonte & Carper, 2006).

Shared genes cannot explain these differences, which must be explained by envi-
ronmental factors, broadly interpreted.
Sporadic ASD As stated above, some cases of sporadic (non-familial) ASD can
be explained, or partially explained, in terms of genetic abnormalities associated
with damage or deterioration to the egg or sperm during the lifetime of one or
the other parent, or shortly after conception. However, only a small percentage of
sporadic ASD cases can be explained in this way — 10 per cent in a study by Sebat
et al. (2007). It is possible that the percentage of cases of sporadic ASD that can be
wholly or partly explained by genetic anomalies may increase as a result of further
research. However, it is unlikely that genetic anomalies by themselves will ever
provide an adequate explanation of all cases of sporadic ASD. The majority must
therefore be explained wholly or in part by environmental factors. This conclusion
is reinforced by the fact that cases of sporadic ASD are known to occur in associa-
tion with certain environmental factors, as detailed later.
Regressive ASD ‘Regressive ASD’ was defined in Chapter 5 as a mode of onset
in which development is normal until the second half of the second year of life or
into the third year, but then autism-related behaviours appear, sometimes gradu-
ally, sometimes quite suddenly. This mode of onset could suggest that some envi-
ronmental factor is causally involved, either acting alone or in combination with
genetic vulnerability to ASD.
Rising incidence of ASD The dramatic rise in the incidence of ASD over the last
couple of decades could plausibly be explained or partly explained by environ-
mental factors of relatively recent origin. This has not been proven to be the case.
However, this possibility has intensified the search for environmental factors of
recent origin, not least because if such factors can be identified and counteracted,
the incidence of ASD might be reduced.

Current Knowledge of Environmental Risk Factors for ASD

Many ‘candidate’ environmental factors

As in the case of genetic variants, there are a great many potentially relevant
environmental risk factors for ASD. Also as with genetic variants, many possi-
bly relevant environmental factors have not yet been investigated. In particular,
very few of the many thousands of chemical compounds that are present in
our homes (in furnishings, cleaning aids, food additives, children’s toys, cosmetics,

11
What Causes Autism?

fragrances, pest control products), in our places of work (especially in agricultural

or industrial settings), and in the air we breathe (especially in towns-and close to
busy roads) have been assessed for possible adverse effects on fetal development
(Grandjean & Landigran, 2014; Kalkbrenner et al., 2014; Lyall et al., 2014).
This statement should, however, be counterbalanced by the fact that if many
such chemical compounds were highly significant risk factors for ASD, then
the incidence of ASD would be even higher than it is. It is more likely that
several — possibly many — chemicals in the man-made environment will even-
tually be identified as constituting weak risk factors for full or partial forms of
ASD, only playing a contributory role when present in combination with an
accumulation of other genetic and/or environmental risk factors.
Shared risk factors
Several of the possible environmental risk factors for ASD identified in the next
subsection are, like genetic risk factors, pleiotropic. That is to say, they are risk
factors not only for ASD, but also for other mental health or behavioural disor-
ders, including schizophrenia, ADHD and intellectual disability. As in the case of
genetic risk factors, this helps to explain why ASD so often co-occurs with, or has
unclear boundaries with, other disorders.
Known or suspected environmental risk factors
Known or suspected environmental risk factors for ASD are listed below under
the headings prenatal factors, perinatal factors and postnatal factors. Some factors
in the environment that have been investigated but which are (almost) certainly
not contributory causes of ASD are also identified. Evidence relating to candidate
environmental risk factors generally can be found in reviews by Scott et al. (2013),
Lyall et al. (2014) and Kalkbrenner et al. (2014). Reports of research studies relat-
ing to specific risk factors are cited below, where available.
Prenatal factors affecting fetal development via the mother
e Exposure to valproic acid/sodium sulphate medication, commonly prescribed as an
anticonvulsant but also for migraine and some psychiatric disorders (Christensen et al.,
2013). Exposure to this medication during the early months of pregnancy appears capa-
ble of causing ASD-related behaviour in the absence of any other risk factors (Arndt
et al., 2005).
e Exposure to traffic-related air pollutants, especially those from diesel (Yoshimasu et al., 2014;
Lam et al., 2016).
e Exposure to certain pesticides, for example organophosphates, organochlorines (Shelton
et al., 2014).
e Infections with fever (e.g. rubella, flu) (Zerbo et al., 2013).
e Cytomegalovirus infection (Sakamoto et al., 2015).
e Immune system abnormalities (Easson & Woodbury-Smith, 2014) (possibly associated with
infections).
e Diabetes (Xu et al., 2014).
e Obesity (Surén et al., 2014).
e Stress (Roberts et al., 2014).
e Migrant status (possibly associated with maternal stress and/or Vitamin D deficiency)
(Bolton et al., 2014).

112
 Root Causes

e Vitamin D deficiency during pregnancy (possibly associated with season of birth and/or with
immigrant status) (Fernell et al., 2015).
e Certain antidepressants (Rai et al., 2013).
e Short interpregnancy interval and multiple births (possibly associated with nutrient deple-
tion) (Gunnes et al., 2013).
e Pregnancy complications, for example bleeding, pregnancy-related hypertension or pre-
eclampsia; also a maternal history of abortion(s), miscarriages(s) or stillbirth(s) (Lyall et al., 2012).

Several of the candidate risk factors listed above, some of which fall into the category
of teratogens, are most likely to be associated with ASD if they occur during the first
three months of pregnancy. This generalisation does not, however, hold true for all
the risk factors listed — see Figure 7.2.
The following have been proposed as possible environmental risk factors for
ASD, but investigations to date have produced conflicting results. More research
is needed either to rule them in, or to rule them out:

e Maternal exposure to chemicals known as endocrine disruptor chemicals (EDCs) in, for
example, flame retardants in home furnishings, vinyl flooring, and some cosmetics (Getso
& Ibrahim, 2014).
e Abnormally high levels of testosterone (male hormone) in the mother (Lombardo et al.,
2012; but see also Farrant et al., 2013).
e Maternal fatty acid supplements (omega-3) (Lyall et al., 2013).
e Maternal folic acid supplements during pregnancy (DeSoto & Hitlan, 2012) (but NB: supple-
ments taken prior to conception reduce the risk for ASD — see Surén et al., 2013).

Environmental factors impinging on the unborn child prenatally that have been
investigated but shown not to constitute significant risk factors for ASD (although
they are in some cases risk factors for other mental health or neurodevelopmental
disorders) include maternal vaccinations containing the mercury-based preserva-
tive thimerosol (Makris et al., 2012), maternal alcohol intake or smoking, infertility
treatments, and antenatal ultrasound scans (Scott et al., 2013; Lyall et al., 2014).
Perinatal factors Perinatal risk factors are sometimes discussed under the
heading of ‘obstetric complications’, and can include the following (for rele-
vant research findings, see the reviews by Scott et al. (2013) and by Lyall et al.
(2014), previously cited):

e Maternal age.
e Pre-term delivery and/or low birthweight.
e Abnormal fetal presentation and/or umbilical cord complications.
e Birth injury or trauma, including fetal distress (associated with, for example, birth asphyxia).
e Caesarian section.
e Neonatal jaundice (variously caused).
e Prolonged or otherwise difficult birth.
e Low neonatal APGAR score.’

2The APGAR test is done by a doctor, midwife or nurse, who examines the newborn’s breathing, heartrate, muscle
tone, reflexes and skin colour. Maximum score is 10. A score of 7 or less is treated as a matter of concern

113
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 Root Causes

The above factors rarely occur singly. So, for example, a breech presentation
or umbilical cord complication may justify delivering the baby by Caesarian
section; similarly, pre-term or low birthweight babies are unlikely to achieve
high APGAR scores. In addition, maternal health problems, including some
of those listed as prenatal risk factors for ASD (e.g. pregnancy-related hyper-
tension, pre-eclampsia, diabetes) may contribute to obstetric complications.
Finally, abnormal embryonic and foetal development, however caused, may
also predispose towards obstetric complications. It is unlikely, therefore, that
ASD ever results from a single birth complication in isolation from other
prenatal and perinatal factors.
Postnatal risk factors As noted above, cases of regressive, i.e. late-onset,
autism suggest that something in the environment within which the infant’s
brain is developing either halts or reverses normal brain development. For
a time, it was suspected that the MMR (measles, mumps, rubella) vaccina-
tion might cause or trigger late-onset ASD. It was suggested that either the
vaccine preservative thimerosal (mentioned above) was to blame, or that a
component of the measles vaccine caused a gut disorder introducing harmful
chemicals into the brain. However, evidence from numerous large and rig-
orous studies carried out in several different countries showed indisputably
that MMR vaccination is not significantly implicated as a causal factor in
autism (for reviews, see Klein & Diehl, 2004; Doja & Roberts, 2006; see also
Uchiyama et al., 2007).
Nevertheless, as many reviews of the evidence point out, the lack of a statis-
tically significant relation between the MMR vaccination and regressive autism
does not rule out the possibility that in very rare cases the MMR is, figuratively
speaking, the straw that breaks the camel’s back. For example, in a child with a
strong genetic susceptibility to autism it might be that the addition of just one
further risk factor, conceivably fever following MMR vaccination, could precipi-
tate brain changes leading to the onset of ASD. Families who have seen their child
deteriorate following vaccination may be very rare indeed but they have, most
understandably, wanted to make their voices heard. One family I knew a while
back had this experience, as described in Box 7.3.
Postnatal factors which, unlike the MMR vaccination, carry statistically significant
risk for ASD include:

e Exposure to traffic-related air pollution (Roberts et al., 2013).

e Exposure to certain pesticides (Quaak et al., 2013; but see also Gonzalez-Alzaga et al., 2014).
e Infections of various kinds, including cytomegalovirus infection (Sakamoto et al., 2015), gut
infections (Theije et al., 2011), and viral infections associated with high fever/encephalitis
(Shoffner et al., 2010).
e Immune system abnormalities associated with vulnerability to infections (Abdallah et al.,
2013), but also possibly familial, i.e. genetic in origin (McDougle et al., 2015).
e Severe material and social deprivation in early infancy (Kumsta et al., 2015; see also Box 74).

115
What Causes Autism?

Box 73 ‘Sarah’: One in a million?

Sarah was a normally developing baby for the first 14 months of her life: healthy,
sociable, playful and communicative. She was a second child, so her parents knew
what to expect in terms of normal development, and they had no concerns about
her during this first year. Following the MMR vaccination at 14 months, however,
Sarah became extremely ill, running a high temperature and falling into what her
parents describe as a coma for 24 hours or more. When she came round she was
drowsy for several days and ‘very poorly’ as if recovering from a bad bout of flu. She
was unresponsive, and did not seem to recognise her parents or her older brother.
As she recovered physically Sarah remained much more passive than she had
been before, and although she clearly knew members of the close family, she
did not approach them or solicit their attention as she had done previously. She
seemed content to sit and play repetitively with a spinning top which she bent down
to listen to, or a favourite musical box which she held close to her ear. Most dis-
tressingly for the family, she no longer attempted to speak, and only communicated
with them when she wanted to be fed or picked up or have some other need pro-
vided for. She was diagnosed with ASD before she entered school, and attended
special schools throughout her childhood.
Sarah has in fact done remarkably well with the help of her family, speech and
language therapists, teachers and others. Now an adult, she has useful language
and good self-help skills. She uses social media and has established some ‘at a
distance’ friendships. However, she remains moderately autistic, and will never
achieve full independence.
Of critical importance in Sarah's case is the fact that several members on both
sides of the family have, or have had, autism-related traits in their behaviour, such
as late talking, marked social reserve, or a preference for routines and dislike of
change. This has not stopped any of them from living full and successful lives.
However, Sarah was almost certainly genetically vulnerable to developing autism.

(With thanks to ‘Sarah’s’ parents for permission to publish this description,

details of which have been changed to ensure anonymity)

The effects of the above risk factors may be cumulative. For example, there
is some evidence to suggest that repeated hospitalisation for viral infections (as
opposed to a single hospitalisation) is associated with ASD (Abdallah et al., 2013).
Similarly, it is plausible to suggest that the effects of exposure to toxic substances
in exhaust fumes, or to certain pesticides, builds up over time during the infant's
first year or two of life, causing or contributing to the form of late-onset autism
in which development is normal for the first couple of years, then plateaus with
autism-related behaviours appearing.
Several of the above postnatal risk factors for ASD overlap with known prenatal
risk factors, and the effects of such risk factors may also be cumulative. For example,
if the mother’s pregnancy as well as the child’s earliest weeks and months are spent
living near busy roads, the effects of toxic traffic fumes will be cumulative. Similarly, if
the mother passes cytomegalovirus infection to her unborn child, who then continues
to carry it, the risks posed by that infection are present both before and after birth.

116
 Root Causes

Box 74 The ‘Romanian orphans’ study

Evidence for the fact that severe deprivation in very early childhood is a risk factor
for ASD comes from studies of children whose earliest months and years were spent
in orphanages in Romania where they suffered severe material and social neglect
before being adopted into families in the UK, the US, Canada and elsewhere.
In the UK, a cohort of these children has been studied from the time they were
adopted, through early childhood, into adolescence and approaching adulthood,
with reports on development being published at intervals throughout this period.
The most recent account of the group now referred to as ‘English Romanian
Adoptees’ is that by Kumsta et al. (2015), cited above. In this account, the persis-
tent psychological effects of early deprivation are summarised as being character-
ised by deficits in social cognition and behaviour, plus some other quasi-autistic
features, often accompanied by cognitive impairment and symptoms of ADHD.
However, not all the adoptees are so affected, and it is suggested that differences
in outcome may be explained, at least in part, by genetic differences.

Environmental Risk Factors and Abnormal

Brain Development

As with genetic risk factors, the diverse environmental risk factors for ASD
identified above must all have the potential to contribute in some way or another
to the anomalies of brain structure and function underlying ASD-related behav-
iour (Belmonte, Cook et al., 2004; Rutter & Thapar, 2014). So, for example,
experiments on rats and mice show that the anticonvulsant drug valproic acid
taken during pregnancy interferes with synaptogenesis (Chomiak & Hu, 2013).
Immune system responses to infections include the production of substances
called cytokines, which are important for the formation and function of neu-
ral networks in the brain (Goines & Ashwood, 2013). Similarly, the chemicals in
certain pesticides interfere with the formation and function of neural networks
(Stamou et al., 2013). Certain particles in vehicle exhaust fumes are described as
‘neurotoxic’ (Costa et al., 2014), and it is thought that other chemicals present in
the environment, not as yet investigated, may also be neurotoxic.
Future research into the root causes of ASD will no doubt include attempts
to identify the specific roles of diverse environmental risk factors as contributory
causes of full and partial forms of ASD, as well as heterogeneity within ASD.
Interactions between specific genetic and environmental risk factors will also
constitute a focus of future research.

SUMMARY
In approximately 10-15 per cent of cases, ASD co-occurs with a developmen-
tal syndrome of known genetic origin. These cases are referred to ‘syndromic
autism’/ ‘syndromic ASD’. From these cases it can be inferred that whatever

117
What Causes Autism?

causes the other developmental condition can also be a risk factor for autism.
Most cases of ASD are, however, ‘idiopathic’, meaning that the root causes of the
condition are unknown.
The etiology of idiopathic autism is discussed in terms of genetic and envi-
ronmental risk factors. What is meant by ‘genetic’ and ‘environmental’ factors is
outlined, and evidence for the role of both types of risk factor as potential contrib-
utory causes of ASD is presented. Summaries of the current state of knowledge
concerning genetic and environmental risk factors are then given. It is stressed that
most if not all the risk factors discussed have individually quite weak effects on
development, but cumulatively and in certain combinations become sufficient for
ASD-related behaviours to develop. Combinations of genetic and environmental
risk factors are likely to be common. It is also stressed that combinations of risk
factors are unlikely to be precisely the same in any two cases of ASD, contributing
to individual differences in the severity and complexity of resulting developmen-
tal anomalies. However, all risk factors, whether genetic or environmental, have
the potential capacity to influence brain development and function, from con-
ception through to adulthood, in ways that underlie autism-typical patterns of
development and behaviour.

118
 BRAIN BASES

THE NEUROTYPICAL BRAIN

Neurotypical Brain Structure
Neurotypical Brain Chemistry
Neurotypical Brain Function
Neurotypical Brain Development

THE AUTISTIC BRAIN

Brain Structure in ASD
Brain Chemistry in ASD
Brain Function in ASD
Brain Development in ASD

COMMENT

SUMMARY
What Causes Autism?

AIMS
The main aim of this chapter is to provide a summary of what is known concerning
the neurobiology, or brain bases, of autism, and to indicate likely growth areas
of research. However, to understand the material presented it is necessary to
have some minimal understanding of the neurotypical brain. A secondary aim of
the chapter is therefore to provide this basic information for readers with no prior
specialist knowledge.

THE NEUROTYPICAL BRAIN

In this introductory section some basic facts concerning the structure, the
chemical constituents and the overall mode of function of the neurotypical
brain will be presented, followed by a section on normal brain development.
The material is highly selective, covering only information most relevant to
the account of brain bases of autism that follows. However, some basic terms
are defined at the outset. A full account of neurotypical brain structure, func-
tion and development can be found in Carlson (2014), with simpler accounts
in primers of child development such as those by Bee and Boyd (2012) or by
Berk and Meyers (2015).

Neurotypical Brain Structure

The main part of the human brain, the cerebrum,! is divided into two cerebral
hemispheres, referred to as the left and right cerebral hemispheres, corresponding
to the left and right sides of the body. The hemispheres are symmetrical in as far
as they both consist of a frontal, temporal, occipital and parietal lobe similarly
positioned in each hemisphere. The hemispheres are joined together by thick bun-
dles of fibres which make up the corpus callosum. The surfaces of the cerebral
hemispheres are enfolded into numerous convolutions (gyri), and crevices (sulci),
providing a much greater surface area than would otherwise be the case. The
enfolded brain surface constitutes the cerebral cortex, made up of grey matter
(see below). The cerebral cortex is approximately 2.5 mm thick in humans and
is responsible for most of the major functions of which we are aware, including
many facets of sensation and motor activity, perception and memory, social ability,
language, thought and reasoning.
The bulk of the cerebral hemispheres is subcortical, subserving functions of
which we are less aware and over which we exert less conscious control. These
include emotional reactions and behaviours, subserved by structures making up
the limbic system; also implicit or unconscious learning of the kinds on which

'Words or phrases in bold type on first occurrence can be found in the Glossary.

120
 Brain Bases

Internal view
External view showing limbic structures

Limbic cortex
Parietal lobe Fornix
Frontal lobe
Oneal e Corpus callosum
Prefrontal cortex adph pee

Superior A
temporal
entre Teaporal Cerebellum is
Hippocampus
(fusiform gyrus lobe
inferior to this)
Brain stem

Figure 8.1 Major structural divisions of the brain

animals and human babies are reliant; also vegetative functions, including sleep
and wakefulness, appetite, temperature control and some sexual behaviours.
At the back of brain, positioned below the cerebral hemispheres, is the
cerebellum, or ‘little brain’, with its own left and right sides and cortical surfaces.
The cerebellum was until relatively recently thought to be involved solely in
motor activity. It is now thought to be involved also in various cognitive and social
functions, though its precise roles are not well understood.
The whole brain is joined to the spinal cord by the brain stem, which carries the
spinal nerves subserving sensation and movement in the head and face. The brain
stem also has the essential function of integrating the spinal and cerebral compo-
nents of the central nervous system (CNS). The major structural divisions of the
brain are shown in Figure 8.1.
Some distinctions at more detailed levels of description are as follows.

e Neurons are cells involved in transmitting information in the form of electrical impulses.
Clusters of neurons, all of which are involved in transmitting and receiving the same infor-
mation, are called nuclei (singular: nucleus).
The cell bodies of neurons are greyish-brown
in colour, and constitute grey matter in the brain. The cerebral cortex is composed of grey
matter, as is much of the cerebellum; there are also clumps of grey matter within subcortical
regions.
e Axons are nerve fibres that carry information from one neuron to another, whereas den-
drites are nerve fibres that act like antennae, receiving the information carried by axons
from neighbouring cells. The point at which an axon from one neuron junctions with the
dendrites of another is called a synapse.
e Glial cells protect, support and maintain neurons, including forming the myelin sheaths
around axons. Glial cells are whiteish in colour, and constitute white matter in the brain.

121
What Causes Autism?

Neurotypical Brain Chemistry

Neurochemicals in the brain fall into various — sometimes overlapping — categories

according to their major function, or functions. Three important groups of brain
chemicals are neurotransmitters, neuromodulators and neurotrophins.
Neurotransmitters aré chemical substances released by one neuron to stimulate
or inhibit activity in other neurons. Neurotransmitters act as ‘messengers’ carry-
ing ‘information’ from one neuron to other neurons equipped with specialised
neuroreceptors selectively responsive to the transmitter substance. Over 100 neu-
rotransmitters have been identified within the human body. Some operate solely
within the peripheral nervous system (PNS) with highly specialised functions to
do with, for example, digestion or circulation. Other neurotransmitters operate in
both the peripheral and the central nervous system (CNS) with a broad range of
functions.
Neuromodulators are substances that stimulate or depress the chemical
output from neurons (comparable to volume control on a TV set). All of the
neurotransmitters listed above also act as neuromodulators. Serotonin, dopa-
mine, acetylcholine (A.CH) and noradrenaline modulate neural activity
within their own specialised brain circuits (referred to as the ‘serotoninergic’,
‘dopinergic’, ‘cholinergic’ and ‘adrenergic’ systems respectively). Glutamate and
gamma-amino butyric acid (GABA), on the other hand, are active throughout
the brain, with major roles in the excitation and inhibition of neural activity.
Certain other neuromodulators are classified as hormones rather than as neu-
rotransmitters. These hormonal neuromodulators include cortisol, oxytocin and
vasopressin, and testosterone.
Neurotrophins are involved in brain growth and maintenance. The most important
neurotrophin is brain derived neurotropic factor (BDNF), which is active in the
brain from conception onwards. Both serotonin and GABA also act as neurotrophins
prenatally, as does reelin.
Box 8.1 provides brief descriptions of the major functions of the neurochemicals
identified above.

Neurotypical Brain Function

The whole brain functions as a hierarchy of nested systems referred to as neu-

ral circuits, systems or networks. Each network consists of interconnected nuclei
that operate together to subserve a particular function. Those circuits that involve
relatively few nuclei situated close together in the brain are referred to as local
networks. These carry out highly specific functions, such as registering the colour
or the shape of an object. To register all salient aspects of an object simultaneously
and as a whole (e.g. the colour, shape, size and movement of a bird), activity in
several local networks must be co-ordinated in a global network. Some global
networks are very widely distributed within the brain, involving both cerebral
hemispheres. For example, hearing is mediated by the auditory nerves that con-
nect mechanisms in the left and right inner ears to nuclei in the brain stem, which

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Box 8.1 Functions of some major

neurochemicals in the brain

Serotonin plays a role in the development of brain cells and their connections, and
in the organisation of brain growth prenatally. (It is for this reason that it is consid-
ered inadvisable for pregnant women to be prescribed medications designed to
reduce serotoninergic activity - see Chapter 7.) Serotonin subsequently has both
excitatory and inhibitory functions, and plays a major role in digestion, as well as
contributing to the regulation of blood pressure, body temperature, pain thresholds,
appetite, mood and sleep. Serotonin also contributes to cognitive functions, includ-
ing memory and learning.
Dopamine is involved in motor functions (people with Parkinson’s disease have
dopamine abnormality) and also in the mediation of reward value, or ‘feel good’
factors (most recreational drugs act via dopaminergic reward systems), and thus is
also important for attention and learning.
Noradrenalin (norepinephrine) is involved in autonomic nervous system
(ANS) functions, including the neurochemical correlates of fear and anxiety, such
as sweating and increased heart rate. In the central nervous system it has a role
in the maintenance of sustained attention and in this way contributes to learning.
Acetylcholine (A.CH) is also mainly involved in ANS functions, initiating involun-
tary muscle activity (e.g. in digestion) in particular, and stimulating the excretion
of certain hormones. In the CNS it contributes to wakefulness and arousal, mood
(including aggression), sexuality and thirst.
Gamma-amino butyric acid (GABA) exerts inhibitory control on neural activity
throughout the brain, acting in synergy with glutamate, which exerts excitatory
control. A balance between the activities of GABA and glutamate is required to
achieve adaptive control of muscle tone and movement, as well as many cortical
functions including vision and arousal.
BDNF is critically involved in the production, differentiation and positioning of neu-
rons in the brain (and elsewhere in the body) prenatally. Thereafter it supports the
survival of existing neurons, and stimulates the growth of new neurons and synap-
tic connections in the brain, having a critical role in neural plasticity and memory.
Reelin, in combination with BDNF and serotonin (see above), contributes to pre-
natal brain development.
Oxytocin modulates activity within brain circuits mediating pain perception, emo-
tion, appetite, sexual behaviour and social bonding. It also has a major role in medi-
ating bodily functions associated with pregnancy, childbirth and breast feeding.
Vasopressin has important roles in certain autonomic functions, including water
retention. It has sometimes been suggested that it may have some role in mediat-
ing social engagement and reward, but this is not proven.
Cortisol produces bodily changes in response to stress (‘fight or flight’ readiness),
and variations in cortisol levels are associated with the sleep—wake cycle. Cortisol
also has an anti-inflammatory role within the immune system.
Testosterone is mainly associated with male sexuality, but may also be associ-
ated with certain cognitive abilities, including spatial sense and some facets of
memory/learning.

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connect to the primary hearing centres in the left and right temporal lobes, and
thereon to adjacent auditory association areas in each temporal lobe. -
To function efficiently, the components of any network, whether local or global,
must be connected with each other. The necessary connectivity is dependent on
the availability and integrity of grey and white brain matter (see the section on
brain anatomy, above), and on the neurochemicals that transmit and modulate
‘information’ within a network (see the section on brain chemistry, above). In
addition, the coherence of activity within any local or global network is depend-
ent on the synchronisation of the firing of groups of neurons within the network.
The synchronised activity of large groups of neurons gives rise to rhythmic oscil-
lations, or ‘brain waves’, of various frequencies named with letters of the Greek
alphabet — for example the ‘alpha’ and ‘gamma’ brain rhythms.

Neurotypical Brain Development

Prenatal development
The brain starts to develop within the first month after conception, with the for-
mation of the neural tube within which the central nervous system will grow.
Within the first four months of gestation, the neural tube has differentiated into
a recognisable brain shape within the head, on a long stalk within which is what
will become the spinal column. Most of the brain neurons an individual will have
over a lifetime develop during these first four months. These neurons develop
in the base of the brain and then migrate to other sections of the brain to form
specialised structures and systems. Among the earliest neurons to develop are the
clusters of cells forming nuclei in the brain stem; also a particular type of cell
called Purkinje cells that are found in the cerebellar vermis. The first axons and
dendrites begin to develop in the last two months before birth.
Postnatal development
At birth the most developed parts of the brain are the evolutionarily old parts that
regulate vital functions, such as respiration, sleeping, eating and eliminating waste
products. The least developed part of the brain is the evolutionarily new cerebral
cortex, which subserves higher-order functions.
During the first 18 months of life, multiple new connections are established
between neurons in the process of synaptogenesis. Synaptogenesis involves
the growth of axons and dendrites that connect with each other creating new
synapses. This process is mainly driven by the infant's experiences, and occurs
throughout the brain but especially in the previously underdeveloped cerebral
cortex. The proliferation of new nerve fibres (grey matter) is accompanied by
increases in protective and supportive glial cells (white matter), and as a result
of these combined growth processes the weight of the brain normally doubles
between birth and 18 months.
Thereafter, a process of synaptic pruning occurs, in which the less-used axonal
pathways are eliminated and only the most-used pathways are retained. In addi-
tion, space for the proliferating axons and dendrites is made by the programmed

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cell death, or apoptosis, of some of the surrounding neurons (the prenatally

formed neuron ‘bank’ allows for this). The combination of synaptogenesis fol-
lowed by synaptic pruning and programmed cell death is sometimes referred to as
a process of ‘sculpting’ the brain into a functionally efficient form.
Spurts in brain growth, with ensuing processes of synaptic pruning and cell
death, occur at roughly predictable ages from infancy through childhood and ado-
lescence. These growth spurts are selective, building and sculpting specific brain
systems in turn. The earliest spurt in brain growth occurs within the first few
months of life, when the cortical components of the auditory and visual systems
are developed. Another growth spurt occurs at around age 2;0, accompanied by
gains in language development. A further growth spurt occurs at around age 4;0,
accompanied by a step change in the ability to think about one’s own thoughts
and those of other people, an ability that is impaired in autism (see Chapter 3).
Further spurts of brain growth, mainly involving increased connectivity between
neurons in the frontal lobes and neurons in relatively distant parts of the brain,
continue through middle childhood to the late teenage years, each accompanied
by stepwise improvements in increasingly sophisticated and human-specific abil-
ities such as abstract reasoning and mathematical ability. Further growth may
occur during adulthood if new skills or knowledge are acquired, providing evi-
dence of plasticity. From middle age onwards, however, there is a gradual loss of
grey matter in specific brain regions, associated with a decline in cognitive abilities
(Cowell et al., 2007). This decline may be exacerbated by age-related diseases
such as dementia.
An important aspect of brain development that begins prenatally and continues
from infancy is lateralisation. As noted above, the cerebrum, also the cerebellum,
are divided into left and right sections. Subcortical structures are also bilaterally
paired. The left and right members of a pair of structures often subserve different
but complementary functions. So, for example, the auditory cortex in the right cer-
ebral hemisphere receives sound coming predominantly from the left ear, whereas
the auditory cortex in the left hemisphere receives sound coming predominantly
from the right ear. Similarly, speech production is generally carried out in the left
hemisphere, whereas prosody (the emotion-bearing patterns of pitch and intona-
tion) is generally carried out in the right hemisphere. Rather confusingly, paired
structures are often referred to using singular rather than plural terms, for example
‘the temporal lobe’, the amygdala’, ‘the hippocampus’. Unless otherwise stated,
the singular terms should be taken to refer to paired structures.
What drives neurotypical brain development
Brain development is ultimately controlled by the activities of genes and their
products, including many of the neurochemicals mentioned in a previous sec-
tion. However, environmental factors are also important. As noted in the previous
chapter, certain neurotoxins to which a developing child may be exposed pre-
or postnatally have adverse effects on brain development. More importantly,
and on the positive side, synaptogenesis is driven by sensory, motor, social
and emotional experiences that stimulate the growth of axons and dendrites,
increasing brain connectivity and building the brain circuits that will subserve an

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What Causes Autism?

increasingly wide repertoire of abilities and behaviours. The chemical processes

involved in synaptogenesis are, however, mediated by gene products. Moreover,
the processes of pruning and programmed cell death are also genetically con-
trolled. However, because experience determines which neuronal connections
are well established (and hence not pruned) as opposed to those that are poorly
established (and hence pruned), environmental factors also have a role in brain
sculpting. This kind of interplay between genetic and environmental factors
is typical of the processes of brain development and change throughout the
lifespan, ensuring that every individual is unique.
There is, however, some disagreement concerning the balance between the con-
tributions of nature (as dictated by genes) and nurture (involving experience),
particularly concerning the extent to which the genes control exactly what cir-
cuits are built, and in which parts of the brain. During the 1980s and 1990s,
so-called modularists (Fodor, 1983; Pinker, 1994, 1997) argued for an innately
specified set of learning mechanisms subserved by innately specified circuits, or
‘modules’, in the brain, allowing only limited scope for environmental inputs to
alter the brain’s basic architecture. This view was questioned by constructivists
such as Elman et al. (1996), who — while fully accepting that there are certain
innate (i.e. genetic) constraints on brain development — emphasised instead the
plasticity of the brain. Debate concerning the extent to which brain development
is or is not genetically determined continues, and is relevant to explanatory theo-
ries of ASD (see Chapter 9); also to discussion of the extent to which ASD may or
may not be ameliorated or even ‘cured’ (see Chapter 12).

THE AUTISTIC BRAIN

Brain Structure in ASD

Introduction
Brain structure can be studied at numerous levels. These range from the identifi-
cation of clearly defined component parts such as those identified in Figure 8.1
above, through the identification of functional networks, to the identification of
individual cell groups (‘nuclei’) and nerve tracts, to the analysis of the molecular
structure of individual cells or cell types. There are correspondingly many dif-
ferent methods of studying brain structure, some of which are listed in Box 8.2.
Studies of brain function, summarised in Box 8.4 later in the chapter, may also be
informative concerning anomalous brain structure in ASD, because structure and
function are inseparably related.
Many of the methods described in Box 8.2 have been used to study brain struc-
ture in autism from the 1970s onwards. However, few firm conclusions could
be drawn from early research because findings were inconsistent across studies.
These inconsistencies arose because of differences in the study methods used, and
the fact that group sizes were small as well as varying in age, ability and sometimes

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Box 8.2 Methods of research into brain

structure in people with ASD
Autopsies/post-mortem studies Useful for detailed examination at both macro
and micro levels of analysis, and has the advantage that examination can be
extended over time. Disadvantages: small numbers of cases available, tending to
be older individuals or individuals with multiple disorders that may have affected
the brain.
Computerised (axial) tomography (CT/CAT scan) Uses X-rays; useful for
examining bony tissue, but undesirable because of radiation risks.
Structural magnetic resonance imaging (sMRI/MRIs) Uses a machine-generated
magnetic field that resonates in ways that can be used to build up a detailed three-di-
mensional image of brain structure. There are no known risks involved, which gives
sMRI its main advantage over CAT scanning. However, the scanning machine is
claustrophobic and noisy, and the individual being examined has to keep still for sig-
nificant periods of time; also use of the machines is expensive. For all these reasons,
studies of people with ASD tend to include small numbers of participants, and few
studies include very young or low-functioning individuals unless sedated.
Diffusion tensor imaging (DTI) is a method of brain imaging particularly suited
for examining brain tissue at a more microscopic level than can be achieved with
the standard form of sMRI.
Animal models involve lesioning specific brain areas in animals, usually rats or
mice, and assessing subsequent effects on the animal’s behaviour (compare the
use of animal models in genetic research, Box 7.2).
Insights from forms of syndromic ASD can indicate abnormalities of likely rel-
evance to ASD. For example, autistic traits in people with tuberous sclerosis are
associated with malformations of temporal lobe cortex. Fragile-X and Turner syn-
drome both involve structural abnormalities within the limbic system.

gender across studies. Given the small group sizes, heterogeneity would also
undoubtedly have contributed to difficulties in drawing any firm conclusions
(Hahamy et al., 2015). There was also a focus on individual structures or sub-
regions in the brain, rather than on widely distributed brain circuits subserving
related sets of behavioural functions. Targeting isolated structures as possible
brain correlates of anomalous behaviour in ASD is a bit like focusing exclusively
on Oxford Circus to explain gridlocked traffic throughout central London.
However, progress is now gathering pace, for three main reasons. First, research
groups are now working co-operatively, sharing methodologies and pooling data,
rather than working in isolation from each other (see Di Martino et al., 2014,
for an account of these changes). This means that comparable data sets can be
assembled from participant groups numbering in the hundreds. From these large-
scale studies, certain commonalities can be discerned across groups and subgroups,
despite individual differences. Secondly, age-related changes are now better under-
stood and taken into account (Greimel et al., 2013; Itahashi et al., 2015). Thirdly,

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What Causes Autism?

the early focus on individual structures or subregions within the brain has largely
given way to studying brain networks, or circuits, subserving ASD-related behav-
ioural functions (see, for example, Zielinski et al., 2012; Itahashi et al., 2015).
Related to this, it is recognised that certain broad characteristics of brain growth
and structure may apply generally to people with ASD, irrespective of heterogene-
ity at more detailed levels of analysis (Boucher, 2011; Casanova, 2012).
A brief summary of what can be said with reasonable certainty concerning
structural brain anomalies in ASD is included below under the heading “What is
known’. Detailed expositions of current knowledge can be found in chapters in
the book edited by Buxbaum and Hof (2012). However, because this is a rapidly
developing area of research, interested readers should look for later reviews when
these become available.

What is known
It is now generally recognised that the set of behaviours that define or are
commonly present in autism are associated with abnormal brain connectivity.
Anomalous brain connectivity was first argued to be of central importance for
an understanding of the brain bases of autism in the early years of this century
(Belmonte, Allen et al., 2004; Courchesne & Pierce, 2005). In the decade follow-
ing publication of these seminal papers there were steep year-on-year increases in
studies demonstrating anomalous connectivity in autism, and its role as the major
structural anomaly in the brains of people with ASD is not now disputed.
Atypical patterns of connectivity in ASD derive from abnormalities in the den-
sity, distribution and cellular construction of grey and white matter in the brain.
Where these abnormalities consist of unusually dense growth of neurons and their
projections, ‘hyper-connectivity’ occurs. Where the abnormalities consist of unusu-
ally sparse growth of neurons, their projections and/or their supporting glial cells,
‘hypo-connectivity’ occurs. Both hyper- and hypo-connectivity have critical effects
on brain function. Together they can account for the combination of circumscribed
areas of high ability and splinter skills (associated with hyper-connectivity), as well
as the behavioural impairments (associated with hypo-connectivity) in autism.
There remain many uncertainties, however, as to where in the brain hyper-
and hypo-connectivity reliably occur; also concerning the nature of the
abnormalities — whether associated with increases or decreases of grey or of
white matter, or both. Findings from research studies designed to answer these
questions are copious, often confusing, and incomplete. Some of the better-
established findings are outlined below.
Abnormalities of cerebral cortex There is clear evidence implicating atypicalities
in the density of grey and white matter in the cerebral cortex in people with ASD.
This evidence comes partly from studies of the exterior surfaces of the brain and
partly from studies of the cellular structure of cortical regions.
Studies using measures of the exterior surfaces of the brain have shown that
the thickness of the cortex at various sites, the total surface area of the cortex, and
the gyrification (i.e. degree of folding) of the cortical surfaces all vary from neuro-
typical norms at some or other stage of development (Wallace et al., 2010, 2013:

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Hazlett et al., 2011; Ecker et al., 2013; Libero et al., 2014). However, the pre-
cise anomalies of cortical thickness, surface area and gyrification that have been
reported are numerous and varied, almost certainly because the groups studied
have differed in age, if not ability and gender. To date, most such studies have
focused on high-functioning adolescent or adult males with ASD, and there is
a clear need not only to clarify and confirm age-related changes in such partici-
pants, but also to extend the use of these measures to lower-functioning groups
and to females.
Studies of the cellular structure of the minicolumns of grey and white
matter in the cortex of people with ASD also reliably show abnormalities.
The precise nature of these abnormalities is unclear, probably because of age-
related changes. However, it is generally agreed that minicolumns are more
numerous but smaller and narrower than normal in people with ASD, at least
at certain stages of life. In addition, the boundaries between grey and white
matter within minicolumns and their projections are less well differentiated
than normal, reducing the efficiency of communication between minicolumns
in different cortical regions (Casanova, 2012). Cortical minicolumns have
been likened to microprocessors which — in the typically functioning brain —
co-ordinate and regulate activity within the cortex. It has been argued that
minicolumnar abnormalities in ASD are associated with enhanced processing
of detail (associated with hyper-connectivity) but impaired executive control
(associated with hypo-connectivity) (Opris & Casanova, 2014).
Cerebellar abnormalities Post-mortem and sMRI studies show that grey matter
in the cerebellum is decreased relative to the neurotypical brain. Reduced num-
bers of Purkinje cells in the cerebellum was first demonstrated by Ritvo et al.
(1986), and this finding has stood the test of time (Fatemi et al., 2012). The
cerebellum is a structure of interest because of the role of Purkinje cells in the
inhibitory control of neural activity (see the section on GABA, below). Reduced
inhibition deriving from cerebellar abnormality has disruptive effects not only on
motor behaviour (as was once thought), but also on cognitive, affective and sensory
behaviours (Fatemi et al., 2012).
Abnormal circuitry Those regions of the cortex, also those subcortical structures
within which, or between which, abnormalities of grey and white matter are most
consistently found, are — unsurprisingly — those that are constituents of widely
distributed brain circuits subserving behaviours that are aberrant in people with
ASD. Circuits with likely or possible relevance to autism include what are termed:

e The social brain (Adolphs, 2009).

e The default mode network (DMN) (involved in retrospection, introspection, theory of mind
and thinking about the future — Buckner et al., 2008).
e The salience network (involved in attention switching and goal setting - Menon & Uddin, 2010)

Detailed information relating to these brain circuits in people with autism can be
found in Pelphrey et al. (2011) on the social brain, Zielinski et al. (2012) on the
social brain and the salience network, and Washington et al. (2014) on the default

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mode network. Atypical connectivity has also been found with the network of
structures involved in language processing (see, for example, Kimura et al., 2013;
Li, Xue et al., 2014). Language processing in people with ASD is, in addition, char-
acterised by atypical lateralisation, with the normal predominance of left hemi-
sphere involvement being either reduced or reversed (Lindell & Hudry, 2013).
Extended reviews of the evidence and implications of the impaired connectiv-
ity model of the brain bases of ASD can be found in Maximo et al. (2014), Kana
et al. (2014) and McPartland and Jeste (2015). The latter authors not only review
the evidence, but also link it back to genetic variants known to disrupt synaptic
growth and function. The importance of building bridges across from etiological
factors to brain anomalies in ASD was stressed in papers by Belmonte, Cook et al.
(2004), Guilmatre et al. (2009) and Zoghbi and Bear (2012), cited towards the
end of Chapter 7. The paper by McPartland and Jeste is important because it
reaches back towards etiological factors, contributing towards the essential work
of linking the different levels of causal analysis.

Brain Chemistry in ASD

Introduction
Understanding the neurochemistry of autism is vitally important for the devel-
opment of effective physical treatments. This has been recognised for very many
years, and the search for neurochemical abnormalities in autism, such as might be
treatable by medication or dietary changes, began soon after autism was identified
as a distinct developmental disorder. Early research was, however, limited by the
methods available, which consisted of post-mortem studies, the analysis of various
bodily fluids, or using a medication experimentally and assessing the outcome.
As more direct methods of study have become available (see Box 8.3), studies of
the neurochemistry of autism have proliferated, and this is now a growth area in
research.
What is known
There is as yet no consensus concerning the precise nature of neurochemical
abnormalities in people with ASD. However, there is ample evidence that several
of the major neurotransmitters, neuromodulators and neurotrophins identified
earlier in this chapter are affected in someway or another. Evidence relating to
each of these substances in ASD is summarised below, in approximate order of
established significance from best to least well established.
Serotonin Serotonin (5-hydroxytryptamine, or 5-HT) is conveyed from one
neuron to another by a serotonin transporter (SERT or 5-HTT) substance. This
substance carries serotonin generated within one synapse to specialised recep-
tor cells on target neurons. Abnormalities of the serotinergic neurotransmission
system could therefore arise in at least three ways. First, there could be over- or
under-production of serotonin (5-HT) itself. Secondly, there could be a problem
with the transporter substance, 5-HTT/SERT. Thirdly, there could be abnormali-
ties in the provision and action of serotoninergic receptor cells.

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Box 8.3 Methods of assessing brain chemistry

Post-mortem studies Examination of post-mortem brain tissue can show whether,
for example, the specialised nerve tracts and receptor cells involved in any one
neurochemical system are intact. However, this method presents similar problems
of interpretation to those outlined in Box 8.2, above.
Lumbar puncture may be used to draw off a sample of cerebro-spinal fluid for
analysis. However, this is an invasive procedure and its use for non-clinical pur-
poses is controversial.
Blood or urine samples can be informative about the by-products of brain
metabolism.
Efficacy studies Studies of the effects of medications known to have their effects
on particular neurotransmitters or neuromodulators provide an indirect method of
assessing brain neurochemistry.
Insights from forms of syndromic ASD can indicate abnormalities of likely rele-
vance to ASD. For example, phenylketonuria (PKU) is associated with abnormal-
ities within the serotoninergic system.
Magnetic resonance spectroscopy imaging (MRSI/MRS) This noninvasive pro-
cedure (similar to SMRI as described in Box 8.2) provides information about the
chemical constituents of specific brain regions.
Positron emission tomography (PET scan) uses a radioactive ‘tracer’ injected
into the bloodstream, the progress of which can be monitored by the scanner.
This measures changes in blood flow, indicating levels of activity in specific neu-
rochemical systems. It is used clinically, but is undesirable for research because
of radiation risks.
Animal models Medications of potential usefulness to treat undesired behaviours
associated with ASD are generally first tested on animals, usually rats or mice.

There is some evidence that all three abnormalities occur more often in peo-
ple with ASD than in neurotypical individuals. However, none of the three types
of abnormality occurs in every autistic individual, or even in a majority of people
with ASD. For evidence of abnormal levels of serotonin, see Oblak et al. (2013)
and Gabriele et al. (2014). For evidence of lowered amounts of 5-HTT/SERT,
see Wiggins et al. (2013). For evidence of reduced numbers of serotonin recep-
tor cells, see Oblak et al. (2013) (as above). The likely effects of serotonin-related
abnormalities in autism are wide-ranging, given that serotonin acts not only as a
neurotransmitter, but also as a neuromodulator and — prenatally — as a neurotrophin.
Glutamate and GABA Glutamate is normally the most abundant excitatory neu-
rotransmitter, and GABA (gamma-butyric-amino-acid) the most abundant inhib-
itory neurotransmitter, operating throughout the brain. As noted in Box 8.1, the
normal production, transportation and reception ofboth these substances is essen-
tial to maintain a balance between hyper- (too much) and hypo- (too little) neural
activity. Any abnormality associated with either of these neurotransmitters may
upset this balance in one or the other direction.

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The theory that autism might result (at the level of the brain) from an imbalance
between the major excitatory and inhibitory neurotransmitters, glutamate and
GABA was first articulated by Hussman in 2001 (see also Rubenstein & Merzenich,
2003). The subsequently named ‘EI theory’ aroused considerable interest among
autism researchers, and reduced levels of GABA have now been demonstrated in
the brains of people with ASD in numerous studies (see Blatt, 2012, and Rojas
et al., 2014, for reviews). There is some evidence to suggest an excess of glutamate
in the brains of people with ASD. However, this evidence is less secure than evi-
dence relating to reduced levels of GABA. Nevertheless, even if the production,
transportation and reception of glutamate is within normal limits in ASD, reduced
inhibitory control would by itself lead to higher than normal levels of excitation,
and ‘noise’ in the neural transmission system.
Dopamine As with serotonin, there are well-established abnormalities, possibly
of various kinds, in the dopaminergic system in people with ASD (Hosenbocus &
Chahal, 2012; Nguyen et al., 2014). It has long been suggested that malfunc-
tioning of the dopaminergic system contributes to motor abnormalities in autism
(Damasio & Maurer, 1978). More recently, abnormalities of dopamine produc-
tion, transmission and reception have been linked with emotion dysregulation and
anomalies of attention (Gadow et al., 2014) and with executive dysfunction and
repetitive behaviour (Kriette & Noelle, 2015).
Acetylcholine Unlike the serotinergic and dopinergic systems, the choliner-
gic system was not intensively studied in people with ASD until the beginning
of the present century. A post-mortem study by Perry et al. (2001), how-
ever, showed reduced numbers of acetycholine receptors — so-called nicotinic
receptors — in the parietal lobes of people with ASD. Reduced numbers of
nicotinic receptor cells have since been found to be widespread in the brains
of people with ASD, with likely implications for understanding impairments
of attention, memory and learning, and also possibly the imbalance between
inhibitory and excitatory brain activity in ASD (Deutsch et al., 2014). In
view of this evidence, the case for developing treatments targeting nicotinic
receptor cells has been strongly argued by Deutsch and colleagues, as well as
by Mukaetova and Perry (2015).
Oxytocin The role of oxytocin in sexual behaviours and childbirth was known
nearly a century ago. However, it was not until a study of prairie voles was pub-
lished in the late 1980s that the broader role of oxytocin in mediating pair
bonding and maternal behaviour was established. The possible relevance for
understanding the brain bases of autism, and for the treatment of autism, was
argued for soon afterwards (Modahl et al., 1992). Since the possible relevance of
oxytocin for understanding autistic social impairments was appreciated, numer-
ous treatment trials and studies of oxytocin levels have been reported (see Preti
et al., 2014, and Young & Barrett, 2015, for reviews). Other studies have focused
on the genetic foundations of a putative abnormality associated with oxytocin in
ASD (LoParo & Waldman, 2014). Findings from this spate of research studies are,

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however, quite mixed. So the jury is still out as to the role of reduced oxytocin
production/transportation/reception as a contributory cause of ASD; also as to
the usefulness of oxytocin-based treatments (see Chapters 12).
Vasopressin Vasopressin is another hormone that has been shown in animal
studies to have some role in the regulation of social behaviour. On this basis it
has been hypothesised to play a role in causing autism, and studies of oxytocin
and vasopressin are often undertaken together. However, the argument for the
involvement of vasopressin is less strong than is the case for the involvement of
abnormalities associated with oxytocin (Heinrichs & Domes, 2008).
BDNF (brain-derived neurotrophic factor) andreelin Inthe early years ofthis cen-
tury researchers began to question whether the abnormalities of brain anatomy
that had been established (see above) might result from neurotrophic abnormal-
ities — i.e. abnormalities in those neurochemicals that are significantly involved
in constructing and positioning nerve cells in the developing embryo and fetus,
and thereafter renewing and maintaining them. As already mentioned, over the
last couple of decades GABA (which is a neurotrophin as well as a major neu-
romodulator) has been shown to be depleted in the brains of people with ASD.
Serotonin, which is also actively involved in brain-building pre- and postnatally, is
also known to occur in abnormal quantities in the autistic brain, as noted above.
However, investigations of BDNF, also of reelin, over the same period have failed
to produced consistent findings (see Halepoto, Bashir, & AL-Ayadhi, 2014, and
Kasarpalka et al., 2014, for reviews of studies of BDNF; and Wang et al., 2014,
for a meta-analysis of studies of the reelin gene). Uncertainty remains, therefore,
regarding the possible roles of both BDNF and reelin in the genetic and brain
bases of autism.
Noradrenalin (norepinephrine) Noradrenalin appears to have little explanatory
value for ASD when considered alone. However, the adrenal glands form part
of the hypothalamic-pituitary-adrenal axis (HPA), a major component of the
neuroendocrine system that controls reactions to stress and regulates many body
processes.
Cortisol Cortisol is secreted by the adrenal glands in response to stress. Levels
of cortisol also show normal variation associated with the sleep-wake cycle
(see Box 8.1). Observations of vulnerability to anxiety, also sleep difficulties in
children with autism, led to some early studies of cortisol levels (e.g. Hill et al.,
1977; Richdale & Prior, 1992). Studies have continued somewhat intermit-
tently, and with mixed findings (see Spratt et al., 2011, and Taylor & Corbett,
2014, for summaries).
Testosterone The ‘extreme male brain’ theory, first argued for by Baron-Cohen
and Hammer in 1997, postulates that exposure to abnormally high levels of tes-
tosterone in utero leads to excessively masculinised brain development in people
subsequently diagnosed with ASD. However, support for the theory is slight,
and has come almost exclusively from the group proposing the theory. This does

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What Causes Autism?

not necessarily invalidate the findings reported, but replication by independent

research groups would be necessary to strengthen the case for the involvement of
fetal testosterone. Moreover, there are both arguments (e.g. Falter et al., 2008) and
evidence (Whitehouse et al., 2012) against the theory.
a’
Comment
There is no doubt that certain neurochemicals are critically involved in the
brain bases of autism. In particular, it is probable that abnormalities affecting the
neurotrophic activities of serotonin and GABA pre- and postnatally contribute
significantly to the atypicalities of brain growth and structure described in the
previous section. In their neurotransmitter and neuromodulator roles, abnormal-
ities in the production and/or transportation and/or reception of serotonin and
GABA almost certainly exert further lifelong effects on brain function and hence
on behaviour in people with ASD. The dopaminergic system is also almost cer-
tainly affected in people with ASD. Furthermore, reduced production of GABA
would allow the excitatory activities of glutamate to become unusually dominant
in the brains of people with autism.
The roles that the other neurochemicals identified above may play in the causal
chains leading to autism-associated behaviour are less clear. The lack of clarity
regarding whether to rule in or to rule out roles for some or all of these substances
in some or all cases of ASD almost certainly results from the fact that research
studies into the neurochemistry of autism are not as yet benefitting from the inter-
research-group co-operation that has so significantly benefitted the study of brain
structure (Di Martino et al., 2014). Inconsistencies in the findings from research
studies of oxytocin or BDNF, for example, could well result from small group
sizes and differences in age, gender and overall ability of groups studied. Because a
secure understanding of the neurochemistry of autism (or of subgroups within the
spectrum) would provide a sound basis for the development and testing of drug
and dietary treatments for autism, it is to be hoped that research in this field will
be prioritised over the next decade.

Brain Function in ASD

Introduction
Given the clear evidence of atypical brain structure and neurochemistry in peo-
ple with ASD, brain function could not be anything other than atypical. Indeed,
much of the evidence of structural anomalies in the brains of people with ASD
(summarised above) comes from studies of brain function. So, for example, if the
emotion-registering areas of the brain are found to be inactive when someone is
watching a video clip of a car crash or a bare-knuckle fight, then it can be inferred
that these brain areas are either structurally abnormal or disconnected from those
parts of the brain registering the visual and auditory detail of the events depicted.
Conversely, investigations of structural anomalies help to identify functional
anomalies, and this reciprocal relationship should be borne in mind when con-
sidering the more direct methods of assessing brain function outlined in Box 8.4.

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 Brain Bases

Box 8.4 Methods of assessing brain function

Positron emission tomography (PET scan) (see Box 8.3) Can be used to
measure levels of activity in specific brain regions during specific activities (but
contraindicated for research as opposed to clinical purposes because it uses
radioactive material as a ‘tracer’).
Single photon emission computed tomography (SPECT) Similar to PET scan
method: assesses blood flow using a radioactive ‘tracer, from which to infer rela-
tions between brain activity and specific behavioural functions.
Functional magnetic resonance imaging (fMRI) Similar to sMRI (see Box 8.2),
but measures levels of ongoing brain activity rather than brain structure. The per-
son being scanned is generally asked to undertake a particular task designed to
involve a particular function, such as reading aloud, or counting, or watching an
emotion-arousing video.
Electroencephalography (EEG) Involves placing electrodes on the skull and
measuring brain electrical activity in response to certain stimuli (evoked response
potentials, or ERPs) or in resting situations. Somewhat invasive, but — given careful
preparation — can be used with very young or vulnerable individuals, as well as
with older children or adults.
Magnetoencephalography (MEG) Measures magnetic fields produced by
electrical activity in the brain to assess the brain’s response to particular stim-
uli. For technical reasons it is more sensitive than electroencephalography
(EEG). It is also less invasive than EEG: the person being assessed sits in a
comfortable chair with their head in what looks like a hair dryer of the kind used
in hairdressing salons.
Computational modelling can be used to simulate ways in which neural networks
operate in the brain, and is generally used to study processes involved in learning.

What is known
Findings from studies of brain function in ASD supplement and reinforce what is
known about anomalous brain structure and neurochemistry. Studies using func-
tional magnetic resonance imagery (fMRI) and electroencephalography (EEG), in
particular, have done much to establish patterns of hyper- and hypo-connectivity
within brain circuits with particular relevance for ASD. For example, both fMRI
(Di Martino et al., 2009) and EEG (Tavares et al., 2013) have been used to inves-
tigate brain structures involved in face processing — a key component of the social
brain — in people with ASD. fMRI was used in a study by Assaf et al. (2010) to
investigate whether or not the typical neural correlates of the default mode network
are active in people with ASD when asked to carry out DMN-related tasks. {MRI
was used to investigate disconnectivity within the dopaminergic reward system,
or salience network, in a study by Abrams et al. (2013). Reviews of evidence from
studies of brain function in people with ASD can be found in Philip et al. (2012)
and in Coben et al. (2014).

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What Causes Autism?

Brain Development in ASD

Compared with neurotypical brain development and decline, as outlined earlier in

the chapter, what is known about brain changes over the seas in people with
ASD suggests an atypical trajectory.
One of the best-established findings concerns over-rapid brain growth in early
infancy (Courchesne, 2004). Specifically, although brain size, as indexed by head
size, is normal (or slightly smaller than normal) in newborns who later develop
ASD, the circumference of the head increases abnormally rapidly during the first
18 months of life, reflecting abnormally rapid brain growth. For many years it was
assumed that over-rapid growth in the earliest months of life was specific to the
brain. However, more recent studies have shown that increases in body height and
weight are also abnormally rapid in infants who will develop ASD (Chawarska
et al., 2011; McKeague et al., 2015).
At age 2;0 years, head circumference, and by inference the volume of the brain,
in these infants is significantly larger than average (Courchesne, 2004). This
reflects the fact that in infants who will develop ASD, grey matter (neurons) and
white matter (glial cells) proliferate unusually rapidly during the first 18 months
of life. In addition, during the second half of the second year the normal processes
of synaptic pruning and cell loss do not occur (Tang et al., 2014).
Abnormally rapid brain growth does not continue, however. Between the
ages of 2;0 and 5;0 years, rate of brain growth is normal, although total brain
volume remains enlarged relative to that of typically developing children
(Hazlett et al., 2011).
Moreover, from adolescence into late middle age, sMRI scans show abnormal
decreases in total brain volume in most people with ASD, relative to neurotyp-
ical comparison groups (Courchesne et al., 2011; see also Greimel et al., 2013;
Itahashi et al., 2015), although rare cases of persistent macrocephaly have been
reported (Barnard-Brak et al., 2011). Reduced brain volume during adolescence
may result from the fact that the spurt of brain growth that occurs in neurotypical
teenagers may not occur in autistic teenagers. On the other hand, abnormally large
decreases in brain volume during adulthood are more likely to result from greater
than normal loss of grey and white matter as the brain ages.

COMMENT
It is important to remember that most individuals with ASD are much more ‘nor-
mal’ (neurotypical) than ‘abnormal’, and some are highly able. Moreover, nearly
all individuals with ASD have some ‘splinter’ skills — things they can do signif-
icantly better than most other things. Sometimes these spared abilities achieve
savant levels, as described in Chapter 3.
The challenge for explanations of autism at the level of brain bases is therefore to
be consistent with the fact that the brains of many people with an ASD diagnosis are

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 Brain Bases

in most respects operating effectively though probably differently from the brains
of people without autism. Even in less able individuals, where brain function is
clearly more compromised, facets of brain function (and by inference structure and
neurochemistry) can be relatively spared, and in cases of savant ability developed to
underpin super-normal levels of function.
It is important, therefore, not to jump to a conclusion from the evidence pre-
sented above regarding abnormalities of brain structure and neurochemistry, that
the brains of people with ASD are predominantly ‘abnormal’ and ‘malfunctioning’.
In the first place, studies reporting negative findings (no abnormalities) are some-
what less likely to be published than studies reporting positive findings (significant
differences from the norm). Similarly, the negative findings in published studies
that produced a mixed set of results are often overlooked in favour of stressing the
positive findings.
It is also important not to underestimate the benefits, in terms of behav-
ioural abilities, that ‘abnormalities’ of brain structure may bring. Local network
hyper-connectivity, associated with superior perception of visual detail, is one
such example already referred to.
Finally, the capacity of the brain to compensate must not be underestimated,
especially in individuals with conditions present from infancy, as in autism.
Compensation can be achieved by extending the role of intact brain systems
to subserve functions more usually subserved by compromised brain systems.
Moreover, neural plasticity ensures capacities for brain growth and development
that are advantageous to the individual, even if atypical (consider how efficiently
individuals born without hands use the feet for many skilled ‘manual’ tasks).
A final point to make is that it is important to bear in mind that the terms
‘atypical’ or ‘anomalous’ imply difference, but carry no necessary implication of
‘inferior’ or ‘worse’ (after all, Mozart’s brain must have been ‘atypical’, but none
the worse for that).
All these considerations suggest that an important goal of future research into
the brain bases of ASD should be to understand how this efficiency is achieved.
This will entail focusing attention on the abilities of people with autism across
the spectrum, in addition to focusing attention on the brain bases of behavioural
impairments.

SUMMARY
Some basic information about the structure, neurochemistry, function and devel-
opment of the brain in neurotypical people was outlined at the outset of the
chapter. This opening section concentrated on providing information of likely rel-
evance to understanding brain anomalies in ASD, and on introducing and defining
some of the key terms to be used later in the chapter. Commonly used methods of
assessing brain structure, the neurochemistry of the brain, and brain function were
also listed and defined at points within the chapter.

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What Causes Autism?

Regarding what is known about the brain correlates of autism-related abilities

and disabilities, the evidence is copious, sometimes conflicting, and generally dif-
ficult to interpret with any certainty. However, it is widely accepted that there is
abnormal connectivity within and between various brain regions and structures.
Both hyper- and hypo-connectivity occur, and it is generally thought that hyper-
connectivity within local networks. is associated’ with isolated peaks of ability,
whereas hypo-connectivity between more widely distributed regions or struc-
tures is associated with autism-related behavioural anomalies or impairments.
Stated crudely, the autistic brain is — to a lesser or greater extent, varying with the
complexity of each individual’s problems — not wired up normally. In the case of
language, this ‘abnormal wiring’ extends to the abnormal lateralisation of some
language-related processes.
Anomalous connectivity in the brains of people with ASD probably results
from abnormalities in the density of grey matter and/or white matter in spe-
cific brain regions or structures — sometimes too much, sometimes too little.
Abnormalities may vary with age, gender, and also with the complexity of an indi-
vidual’s autism-related problems. Abnormal densities of grey matter have been
found in the cerebral cortex, the cerebellum, and in subcortical structures that
are key components of the neural circuits identified in bullet points earlier in the
chapter. Sometimes nerve tracts are under-developed, with a loss of co-ordinated
activity between structures. At the cellular level, the generator, transmitter and/
or receptor cells of certain neurochemical systems have been found to be sparse
or malfunctioning. Neurochemical systems that are probably most affected in
ASD are the serotoninergic and dopaminergic systems, with the balance between
excitatory and inhibitory substances (GABA and glutamate), as well as the ‘social
bonding’ hormones oxytocin and vasopressin, also affected.
It is important not to infer from the above that the brains of autistic people do
not function effectively in many respects — indeed, in most respects in the case
of people with high-functioning ASD. The human brain is relatively ‘plastic’, ice.
capable of finding different ways of working if the ‘normal’ route is not available.
It is also important to give full weight to the fact that the brain anomalies in
ASD may sometimes produce individuals with superior talents. The challenge for
explanations of autism at the level of brain bases is therefore to be consistent with
the fact that the brains of many people with ASD are in most respects operating
effectively, though probably differently from the brains of people without autism.

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 PROXIMAL CAUSES 1:
DIAGNOSTIC BEHAVIOURS

INTRODUCTION

SOCIO-EMOTIONAL-COMMUNICATIVE IMPAIRMENTS
What Has to be Explained
Explanatory Theories

RESTRICTED AND REPETITIVE BEHAVIOURS

What Has to be Explained
Explanatory Theories

SUMMARY
What Causes Autism?

AIMS
The main aim of this chapter is to provide an account of theories and evidence
relating to the immediate, or proximal, causes of the socio-emotional-communica-
tive impairments and restricted and repetitive behaviours that constitute diagnostic
criteria for ASD. An underlying aim is to emphasise the multiplicity of factors that
may significantly contribute to any one facet of autism-related behaviour — some-
times affecting only a relatively small subset of individuals, but always contributing
to heterogeneity in individual outcomes.

INTRODUCTION
Until recently, psychological! theories predominated in the literature concerning
the causes of autism. Theories concerning the etiology and brain bases of autism
were certainly proposed from the earliest years following publication of Kanner’s
seminal paper in 1943. However, the methods available for studying genetics,
or for studying brain structure, function and neurochemistry, were quite limited
until the last decade or so of the twentieth century. Because of this, relatively
little was known about human genetics as a whole, or about the fine detail of
typical brain development, structure and function — let alone about the genetics
or neurobiology of autism.
Understandably, therefore, attempts to understand the causes of autism-related
behaviours were mainly pitched at the level of psychological processes and sys-
tems. Theories and evidence at this level of explanation proliferated over the
years: theories have come and gone; some came and went only to be revived
decades later. In this chapter, most space is given to the most recent and/or best
supported theories. However, some indications of older theories, or the stages of
development of a particular theory, are sometimes included to emphasise the
fact that there is as yet no definitive and universally accepted account of ‘The
Psychology of Autism’.
The chapter is in two major sections, one on neuropsychological explanations
of socio-emotional-communicative (SEC) impairments and one on neuropsycho-
logical explanations of restricted and repetitive behaviours (RRBs). Each of these
major sections opens with a short subsection headed ‘What Has to be Explained’,
where reference will be made to the detailed descriptions of the diagnostic
behaviours provided in Chapters 2 and 3. In each major section there is then an
extended subsection covering ‘Explanatory Theories’. The chapter ends with the
usual Summary.

'As the brain correlates of major psychological processes are increasingly understood, ‘psychological’ explanations are
increasingly expected to be ‘neuropsychological’. In what follows, ‘neuropsychological’ will generally be used where
the brain correlates of a particular psychological process are known. ‘Psychological’ will be used elsewhere.

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 Diagnostic Behaviours

SOCIO-EMOTIONAL-COMMUNICATIVE
IMPAIRMENTS
What Has to be Explained
Neuropsychological accounts of the proximal causes of ASD must be capable of
explaining the diagnostic SEC impairments as detailed in DSM-5. Descriptions
and examples of diagnostic SEC impairments according to DSM-5 can be found
in Box 2.1.
Any account of the proximal causes of SEC impairments in people with a diag-
nosis of ASD must also be capable of explaining SEC impairments that are present
before a diagnosis is made, namely impairments of dyadic and triadic interaction
(see Chapter 3). In addition, much more is known about the detailed charac-
teristics of SEC impairments than can be compressed into a set of diagnostic
criteria, and some expansion of these criteria can be found in Chapter 3 in the
subsections relating to ‘Impaired mindreading’, ‘Impaired emotion processing’ and
‘Communication impairments’.

Explanatory Theories

In this section, potential explanations of dyadic interaction impairments are

considered first on the principle that early-occurring anomalies will help to explain
later-manifesting anomalies (consistent with the primacy criterion identified in
Chapter 6). Possible explanations of impaired mindreading, emotion processing
and communication are then considered in turn.

Explaining impaired dyadic interaction

Candidate theories Various explanations of impaired dyadic interaction in ASD
have been proposed, based on what is known about the innate social, emotional,
communicative and cognitive capacities of typically developing infants and toddlers.
It is important to note that ‘innate’ does not necessarily imply ‘congenital’/‘manifest
from birth’. Rather, it indicates that some facet of physical or behavioural develop-
ment is genetically programmed to come on-stream at a certain life stage (which
is not to say that genes are the sole determinants of these developments). The
capacity for language acquisition, the onset of puberty, and the processes associated
with normal ageing are examples of such developments. All the innate capacities
and propensities listed below — and the list is not exhaustive — have some role in
establishing and maintaining reciprocal bonds between babies and their primary
caregivers, with obvious survival value for the infant; hence they have been ‘writ-
ten into’ the genes. Several, but not all, are congenital, i.e. are present in typically
developing neonates; the remainder are observable within the first three months of
life (for supporting references, see primers of child development, for example Bee
and Boyd, 2012; Berk and Meyers, 2015).

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What Causes Autism?

e Social orienting. This term refers to typically developing neonates’ preferential attention to
social stimuli (such as faces, voices, and movements of the mouth, eyes or hands), as
opposed to non-social stimuli.
e Eye salience and gaze following. Other people’s eyes capture and hold the attention of
typically developing neonates, and they can discriminate whether another person’s eyes
are directed towards thém or averted. When the other person's eyes are averted, the infant's
eyes tend to move in the direction of whatever the other person is looking at. This is the
response known as gaze following, which is a precursor of joint attention.
e Social learning. Typically developing neonates recognise their mother’s voice, having heard
it in utero. By the third week of life, neurotypical infants recognise the faces of primary
caregivers and spend more time looking at them than at unfamiliar faces. These rather
amazing attainments indicate that certain perceptual and memory/learning capacities are
present even before birth.
e Imitation. The propensity to imitate others’ facial postures (e.g. tongue protrusion) occurs
in typically developing neonates. They may also spontaneously imitate certain hand move-
ments. By the end of the third month typically developing infants imitate others’ facial
expressions of emotion.
e Social motivation refers to the intrinsic reward-value of social stimuli, as indicated by typ-
ically developing neonates’ spontaneous initiation of eye contact and their expressions
of pleasure (social smiling, vocalisations) during social engagement within the first three
months of life.
e Synchronisation of vocalisations and movements in dyadic interactions is observable in
typically developing infants by the age of three months. This indicates the existence of
capacities for fine-grained timing in both the perception and production of movements and
sounds.

Critical assessment of the theories All the above propensities and capacities are
at least partially impaired in people with ASD. This could suggest that one or
more of them underlie impaired dyadic interaction, as has been argued by various
researchers. Thus it has been argued that a social orienting deficit might under-
lie SEC impairments in ASD (Dawson et al., 2004; Leekam & Ramsden, 2006).
Similarly, it has been suggested that problems of eye salience and gaze following may
contribute to SEC impairments in incipient autism as well as in established autism
(Baron-Cohen, 1995; Jones et al., 2008). Impaired imitation was for a time argued
to be an important cause of the social impairments in ASD (Williams et al., 2001;
Ramachandran & Oberman, 2006), although it is now clear that imitation impair-
ments in ASD are selective rather than pervasive (Vivanti & Hamilton, 2014).
Persistent face and voice recognition problems (Boucher et al., 2000; Weigelt
et al., 2013) might suggest that a social learning/memory deficit contributes to
SEC impairments from the start.
These four hypotheses are, however, weakened by the fact that they all critically
involve the ability to see people’s faces and body movements, and to hear their voices,
but people who are congenitally blind or deaf are not generally autistic (Hobson
& Lee, 2010; Szymanski et al., 2012). Nor do individual accounts of people born
deaf-blind suggest that even this most debilitating form of sensory impairment
is reliably or frequently accompanied by autism (see websites of relevant sup-
port organisations). People born with severe sensory impairments can, of course,

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 Diagnostic Behaviours

compensate through their intact sensory channels, and may exercise their intact
social orienting,’ imitation and social learning capacities utilising these channels.
It is difficult to argue, however, that babies born blind can compensate for loss of
eye direction detection and gaze following by using hearing or touch.
Another difficulty with the above four hypotheses is that dyadic relating is not
usually reported to have been abnormal in the first year of life. Instead, parents
commonly report a decline in their child’s sociability usually some time in the
second year. Impaired social orienting, failure to make and maintain eye contact,
failure to imitate facial expressions (especially smiling), failure to respond differ-
entially to the faces and voices of familiar carers as opposed to those of strangers
would, if present, surely all have been noticed within the first year of life.
For both the above reasons, impaired social motivation is a stronger candidate
for explaining the decline in dyadic interaction in incipient autism. The case for
a fundamental deficit in the innate reward value of social stimuli (being fed, cud-
dled, looked at, smiled at, played with, cooed at or talked to) has been made over
many years (e.g. Mundy, 1995, 2003; Sigman & Capps, 1997), and most recently
by Chevallier et al. (2012). Awareness of social interaction with familiar others,
and associated experiences of comfort, safety and pleasure, can be experienced
through any of the senses, including touch taste and smell: it is not reliant on
either vision or hearing. Moreover, failure to experience reward from social inter-
actions would gradually undermine the innate tendencies to make eye contact, to
imitate the movements and facial expressions of others, to respond preferentially
to the faces and voices of familiar carers. The impaired social reward hypothesis is
therefore consistent with the fact that dyadic interaction is unimpaired during the
first year of life but then declines.
Impaired timing as a cause of social, linguistic and motor abnormalities in ASD
was first argued for by Newson (1984) and later by Boucher (2001), Wimpory
et al. (2002), and most recently by Allman (2011). One of the strengths of this
hypothesis is that fine-grained timing is involved in almost every kind of active
behaviour as well as in the integration of neural activity within the brain (Brock
et al., 2002). Feldman (2007) has spelled out the role of timing for the normal
development of reciprocal social interaction, and it could be argued that the fail-
ure to co-ordinate and synchronise social interactions during the first year of life
undermines those facets of dyadic relating that operated normally at first. This
hypothesis, although plausible, has not been intensively investigated.
There may in fact be no single initial behavioural deficit from which all other
dyadic interaction impairments accrue: in any one individual there may be
more than one initial deficit, leading to a cascade of knock-on effects. In addi-
tion, the initial neuropsychological deficits that can lead to impaired dyadic
relating may differ across individuals. Given the multiplicity and heterogene-
ity of etiological factors (genetic and environmental) that may contribute to
autism, and given also the range of ages, from six months to the beginning of
the third year, at which signs of incipient autism are first detectable, it seems

2Words or phrases in bold type on first occurance can be found in the Glossary.

143
What Causes Autism?

quite likely that the earliest-occurring neuropsychological deficits underlying

impaired dyadic relating, and thereafter contributing to the broad range of
SEC impairments in ASD, are also heterogeneous.
What can also be said with reasonable certainty is that disturbances of syn-
aptic development associated with known risk factors for ASD (see Chapter 7),
and which are manifested in the early overgrowth of brain matter in infants with
incipient autism (see Chapter 8), are in some way implicated. In cases of regres-
sive autism, this may be the result of neurodegeneration, as suggested by Kern
et al. (2013), rather than early overgrowth. However, the net effect would be the
same in terms of maldevelopment and subsequent malfunction of key regions of
the social brain.
Explaining impaired mindreading
There are two distinct approaches to explaining how human beings develop
mindreading abilities: the modularist and constructivist approaches. As noted in
the previous chapter, the modularist approach is rooted in the view that certain
uniquely human, highly specialised capacities have arisen via genetic mutations
which — as a result of their significant survival value — became written into the
genes as innate capacities. These domain-specific capacities are conceptualised
as brain-based modules that are pre-set to mature at specific ages or stages of
development.
The constructivist approach argues that uniquely human, specialised capac-
ities, such as those for mindreading, language and numeracy, are built up over
time from one or more of the very early manifesting capacities listed in the previ-
ous section, combined with domain-general learning abilities (Karmiloff-Smith,
1992, 2006).
These competing accounts of the origins of mindreading ability still figure in
explanations of impaired mindreading in ASD, as outlined next.
Explaining impaired mindreading in terms of modular deficits When an impair-
ment of explicit theory of mind (ToM) in children with autism was first demon-
strated in a seminal study by Baron-Cohen and colleagues (1985), the authors
explained the impairment as resulting from a lack of an innate modular capacity
for metarepresentation. The definition of ‘metarepresentation’ and its relation
to various forms of mindreading became controversial topics in philosophy as
well as in psychology over the next three decades, and controversies remain (see
Carruthers, 2009, and commentaries on this article), Stated simply, however,
metarepresentation may be defined as ‘the ability to form a representation of
a representation’, making it possible to think about thinking — to reflect on and
reason about one’s own and other people’s perceptions, knowledge, motivations,
memories, etc.
Shortly after publication of the 1985 paper, however, one of the authors of the
paper, Frith, distanced herself from the suggestion that impaired performance on
false belief tasks (see Chapter 3) derives from impaired metarepresentation (Frith,
1989). Frith proposed instead that failure to pass these tests results from impaired
ability to form in one’s own mind any representation (‘idea’) of what may be in

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 Diagnostic Behaviours

someone else’s mind in the first place — let alone form a metarepresentation. Frith
introduced the term ‘mentalising’ to refer to the ability to represent in one’s own
mind the content of someone else’s mind — their ‘mental state’. She noted that men-
talising is necessary not only for explicit ToM, but also for many early-occurring
forms of mind-sharing in typically developing children, including the triadic inter-
action behaviours that manifest in typically developing infants towards the end of
their first year. Implicit ToM had not at this time been demonstrated in typically
developing babies. However, implicit ToM, like explicit ToM and triadic interac-
tion, clearly involves mentalising.
Frith (1989; see also Frith et al., 1991) initially proposed that mentalising is
an innate, pre-programmed capacity primed to ‘switch on’ in typically devel-
oping babies at a specific stage in development. This proposal was based on the
model of the acquisition of normal mindreading proposed by Leslie (1987),
one of the other authors of the seminal 1985 paper. Leslie has continued to
argue that it is necessary to posit innate modular mechanisms to explain not
only success on mindreading tasks, but also to explain the emergence of pretend
play in typically developing children, noting that pretence, like mindreading,
is impaired in children with autism (Leslie, 1987; German & Leslie, 2004).
However, Frith and her collaborators later abandoned the modularist explana-
tion of the origin of mentalising ability in favour of a constructivist explanation,
as outlined below.
The first-named author of the 1985 paper, Baron-Cohen, also started out in
the modularist camp. His mindreading model (Baron-Cohen, 1995) and his later
empathising system model (Baron-Cohen, 2005) posited a set of innate capaci-
ties corresponding to some of the congenital or very early manifesting capacities
underpinning dyadic social interaction. These were somewhat coyly named: the
Intention Detector (ID), the Eye Direction Detector (EDD), the Shared Attention
Mechanism (SAM), the Theory of Mind Mechanism (ToMM) and, when his
empathising system model took over from the original mindreading model, The
Empathising SyStem (TESS) was added to the set. Baron-Cohen’s ‘SAM’ and
‘ToMM’ equate with mentalising ability and metarepresentation, respectively.
Thus Baron-Cohen’s model incorporated Frith’s concept of an innate, domain-
specific mechanism for mentalising (typically available from the end of the first
year of life), as well as Leslie’s concept of an innate mechanism for metarep-
resentation (typically available around the end of the fourth year of life). When
Baron-Cohen first propounded his mindreading and empathising system models
he placed considerable emphasis on this bank of innate modular mechanisms,
arguing that SAM and ToMM are defective in autism. Subsequently, however, he
has focused almost exclusively on the problems that people with ASD have in
‘reading the mind in the eyes’, arguing that this underlies the mentalising deficit.
This brings Baron-Cohen into the constructivist camp, as described below.
Latterly, it has been largely left to philosophers to argue the case for the exist-
ence of innate domain-specific modular abilities to explain the development of
mindreading in typically developing infants and impaired mindreading in ASD
(Adams, 2013; Carruthers, 2013; but see also Gerrans & Stone, 2008).

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Explaining impaired mindreading in terms of a constructivist model In a semi-

nal book entitled Autism and the Development of Mind, Hobson (1993) argued
the constructivist view that our specifically human capacities for understanding
other minds are rooted in infants’ and toddlers’ experiences of inter-relatedness
with other people. He, further argued that autistic children’s fundamental disor-
der should be conceptualised as ‘a disruption in the usual interpersonally coordi-
nated patterns of intersubjective relatedness’ (Hobson, 1993: 79 — his italics), thus
missing out on the foundational stage of internally representing others’ mental
states. In making this argument, Hobson was explicitly returning to Kanner’s early
hypothesis that autism stems from lack of ‘the innate ability to form the usual
biologically provided affective contact with people’. Hobson referred to this as
affective agnosia, or ‘emotion blindness’.
‘Emotion blindness’ would, he argued, diminish the very young infant’s desire
for social interaction because there would be no shared pleasure in it, only a
self-centred pleasure from the sensations provided by, for example, being rocked
or tickled. More importantly, the lack of co-experience of emotion would impair
the ability to realise (unconsciously, of course) that other people have emotions
like the child’s own: that ‘Daddy can feel happy or sad, like me’. Thus the infant
misses out on the first stage of understanding about others’ — and their own —
mental states. A little later in development, when the typically developing infant
understands that Daddy wants (and I want) the cake, the infant with ASD will
have no understanding of the shared ‘wanting’, and the shared attention to, the
cake. Protodeclarative communication, such as bringing and showing or pointing
at something interesting, will not occur because the child has no awareness of the
possibility of sharing emotions or mental states.
Influenced perhaps by Hobson’s arguments, or by the cogent and detailed case
made for constructivism by writers such as Karmiloff-Smith (1992, 2006), Frith
abandoned a modularist explanation of impaired mentalising in autism in favour
of a constructivist interpretation (Frith & Frith, 2003; Frith, 2013; Happé & Frith,
2014). Frith (2013) notes, for example, that eye gaze processing and the detection
of biological motion are impaired in people with ASD, and considers whether one
of these early manifesting but persistent impairments might underlie impaired
mentalising in autism.
Gallagher (2004) and Tager-Flusberg (2005) have argued that typically devel-
oping babies’ innate preference for attending to human faces, voices and body
movements (social orienting) ensures a wealth of perceptual information from
which ‘immediate and intuitive’ representations of others’ mental states are
formed. Both these authors have proposed that because infants with incipient
autism lack innate social orienting propensities, and actually avoid interacting with
other people, they lack the perceptual experiences from which mental states of
others are intuitively inferred.
Similarly, it has been hypothesised that impaired mentalising could result from
impaired experience of social reward (Chevallier et al., 2012) or impaired timing
(Feldman, 2007).
In sum, although constructivists may disagree as to which of the innate capac-
ities underlying dyadic interaction in typically developing babies are absent or

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 Diagnostic Behaviours

impaired in infants with incipient ASD, they are united in arguing that babies’
bodily and perceptual experiences of themselves and of other people during the
earliest weeks and months of life provide the essential building blocks of mental-
ising. Moreover, there is widespread agreement that mentalising ability is initially
manifested in implicit ToM and impaired triadic relating — i.e. by the end of the
typically developing infant’s first year.
Regarding the capacity for metarepresentation, all of the authors in the con-
structivist camp argue that when mentalising ability is supplemented by certain
domain-general abilities that become available to the typically developing 3;0-4;0
year old, ‘thinking about thinking’ becomes possible. Frith (2013) argues for the
critical role of language. Tager-Flusberg (2005) argues that both language and
certain executive functions are required to pass false belief tasks. Gallagher sug-
gests that central coherence may be important. All these claims are supported by
research: see, for example, Fisher et al. (2005) or Tager-Flusberg and Joseph (2005)
on the link between explicit ToM and language; Pellicano (2007) or Kimhi et al.
(2014) on the link with executive function; and Jarrold et al. (2000) or Pellicano
(2010) on the link with central coherence. General intelligence also clearly helps
to determine whether an individual can solve false belief tasks and this may be
why many non-autistic learning disabled individuals fail tests of explicit ToM. In
the case of autism, central coherence and certain executive functions are probably
always impaired (see below), and language and learning ability are sometimes
impaired. According to the constructivists, therefore, it is not hard to see why
people with ASD fail on tests of explicit ToM.

Explaining impaired emotion processing

Most suggested explanations of impaired emotion processing in autism invoke
impairments of integration. These theories revolve around the fact that normal
experience, whether social or not, almost always involves affective (emotion-
related) as well as perceptual and cognitive content, and these components are
experienced as integrally related.
Hermelin and O’Connor (1985) were the first to suggest that in autism there is
a problem in the integration of the affective and cognitive components of experi-
ence. This problem would lead to questions such as ‘Did I like it when I went on
the bouncy castle?’ (see the section on empathy in Chapter 3).
Ben Shalom (2000; Faran & Ben Shalom, 2008) has proposed the more spe-
cific hypothesis that people with ASD experience the physiological components of
emotion but fail to associate this experience with whatever stimulated the emotion.
Thus someone with ASD might see a snake and experience a cold sweat and other
physiological correlates of fear, without automatically connecting their bodily sen-
sations with the snake. Equally, an infant with incipient autism would experience
the physical pleasure of being stroked or tickled, but they would not associate the
pleasurable feelings with the person stroking or tickling (compare the ‘impaired
experience of social reward’ theory, outlined earlier in the chapter). Ben Shalom’s
hypothesis fits well with the observation that, while emotion contagion and the
experience of the physiological components basic emotions is intact in people with
ASD, understanding of what other people’s or one’s own emotion is about (that is

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to say, the cognitive as opposed to the affective component of any experience) is

not integrated with the physiological components. The hypothesis is also consistent
with theoretical models of emotion processing in mainstream psychology. In main-
stream pyschology a distinction is commonly made between ‘emotions’ defined as
raw physiological sensations, and ‘feelings’ defined as the conscious identification
of what the emotion is about — what provoked it, and what kind it is: is it ‘fear’ or
‘amusement’ or ‘surprise’, for example (LeDoux, 1998)?
Failure to experience ‘feelings’, in this special sense, is compatible with the
‘emotion blindness’ theory, as argued for first by Kanner and later by Hobson. If
one has no idea what another person’s emotion is about, one is not in a position
either to share it (except in terms of physiological arousal) or to respond appro-
priately. Impaired appreciation of what another person’s emotion is about is also
a cornerstone of Baron-Cohen’s ‘impaired empathising system’ theory. According
to this theory, the inability to appreciate the content of another person’s emotion
results from impaired mentalising (referred to as ‘theory of mind’) (Baron-Cohen
et al., 1997; Wheelwright & Baron-Cohen, 2011).
In an extended review of the literature on emotion processing in autism, Gaigg
(2012) argues for there being a disconnect between experienced emotion and
the experiences giving rise to an emotion, regardless of whether the experiences
are social or non-social — i.e. regardless of whether or not mentalising is involved.
This argument gives much greater weight than previously to the role of impaired
emotion processing as disruptive to all sorts of learning. It will be of considerable
importance to see how this argument develops, because the reward-value of expe-
rience — whether positive or negative — is absolutely central to how we learn and
what we learn. Explanatory theories centring on impaired integration are, in addi-
tion, clearly compatible with evidence on anomalous structural and functional
brain connectivity in people with ASD.
Explaining impaired communication
In the section on impaired communication in Chapter 3 it was pointed out that
both the means of interpersonal communication (language and nonverbal commu-
nication signals) and also the rules and conventions governing the use of language
and nonverbal signals in interpersonal communication (pragmatics) are impaired
in people with ASD.
Explanatory theories relating to impaired language are reviewed in the next
chapter. Regarding impaired comprehension and use of nonverbal signals, impaired
comprehension of facial expressions of emotion (Uljarevic & Hamilton, 2013:
Golan et al., 2015) might be explained in terms of one or another of the theories
outlined in the section on impaired emotion processing, above. Recent demonstra-
tions of impaired use of gesture (Sowden et al., 2013; Watson et al., 2013), and
of impaired integration of gesture and speech (Silverman et al., 2010: Hubbard
et al., 2012), have yet to be explained. However, the latter problem is consistent
with an impairment of cross-modal processing, which was an early contender for
an explanation of impaired ability to match familiar faces with the voices of the
people pictured (Boucher et al., 1998). A cross-modal processing impairment con-
stitutes a form of impaired integration of sensory stimuli, and is consistent with

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anomalous neural connectivity in the brain. Defective timing might also offer an
explanation of impaired integration of speech and gesture.
Impaired pragmatics can largely be explained in terms of impaired mindread-
ing and emotion processing. Impaired mindreading causes the person with ASD
to communicate without consideration of the other person’s mental states: their
knowledge, beliefs, feelings, etc. (Cummings, 2013; Fernandez, 2013). Because
people with ASD have no intuitive appreciation of ‘where the other person is
coming from’, their communication is self-centred not just in topics that may be
pursued, but also in poor turn-taking, poor listening, and failure to use the appro-
priate conversational and grammatical devices that help to clarify meaning.
Brain correlates of SEC impairments
The brain correlates of each of the innate abilities underlying dyadic interaction
are well known, and generally form part of ‘the social brain’. As noted in Chapter 8,
brain scans and EEG studies of children and adults with ASD reliably show that
key structures and connectivity within the social brain are dysfunctional and/or
structurally abnormal. It may be assumed that — even if present and intact at birth,
as the evidence relating to the gradual onset of autism suggests — one or more of
these capacities is irrecoverably disrupted by abnormalities of brain development
during the first two years of life. For a detailed exposition of the development of
the social brain, and the disruption of normal development in people with ASD,
see Frith and Frith (2010). Also as noted in Chapter 8, structures and connectiv-
ity within the default mode network (DNM) which subserves mentalising and
mindreading have also been shown to be dysfunctional and/or structurually abnor-
mal (Li, Mai et al., 2014).

RESTRICTED AND REPETITIVE

BEHAVIOURS
What Has to be Explained

Descriptions of the restricted and repetitive behaviours, including sensory-

perceptual anomalies, that constitute diagnostic criteria for ASD according to
DSM-5 were reproduced in Box 2.1. Expanded descriptions of repetitive and
restricted behaviours, sensory-perceptual anomalies, and also the links between
these contrasting forms of RRBs can be found in Chapter 3. The lack of creativity
and imagination which constitutes the flip side of repetitive and restricted behay-
iour was also described and discussed in Chapter 3.

Explanatory Theories

There are a considerable number of explanatory theories to cover in this section,

some of which are overlapping, none of which can by themselves offer a complete

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What Causes Autism?

explanation of all forms of RRBs, and none of which is proven. To clarify the
emerging picture, differentiable theories are presented individually, whereas over-
lapping or related theories are presented as groups, under the following headings.

e The impaired control of arousal theory.

e The impaired executive function theory.
e Six sensory-perceptual imbalance theories.
e Two anomalous learning theories.
e Non-specific aggravating factors.

The impaired control of arousal theory

This theory revives a hypothesis first proposed half a century ago by Hutt et al.
(1964). These authors proposed that levels of physiological arousal are poorly
controlled in people with autism. Arousal levels determine levels of wakefulness
and sleep, including levels of alertness, attention and readiness to respond in awake
states. The physiological correlates of arousal include variations in heart rate and
blood pressure. At the level of the central nervous system, arousal is regulated by
the reticular activating system, which runs from the brain stem to the cerebral
cortex, mediated by the activity of specific neurotransmitters.
Hutt et al. (1964) hypothesised that abnormalities within the reticular activat-
ing system in autism limit the degree of control that people with autism are able
to exert over their own arousal levels, leaving them vulnerable to both hyper- and
hypo-sensitivity to sensory stimuli in all modalities. They further hypothesised
that repetitive behaviours occur both as a means of reducing sensory stimulation
to counteract over-arousal (anticipating the concept of ‘sensory soothing’), and as
a means of increasing sensory experience to counteract under-arousal (anticipating
the concept of ‘sensory seeking’).
The Hutts and their colleagues were not the only researchers of that period to
argue for an impaired arousal explanation of repetitive and restricted behaviours
in autism. Ornitz (1976), for example, proposed that a failure of homeostatic
regulation of sensory input leading to impaired sensory modulation could explain
these behaviours. The impaired arousal theory was not, however, pursued until
the work of researchers such as O’Neill and Jones (1997) and Gal et al. (2002),
mentioned above, once again focused researchers’ attention on the relationship
between sensory anomalies and repetitive behaviours in ASD.
In 2006, Liss and colleagues (see also Orekhova & Stroganova, 2014) argued that
abnormalities of arousal levels could explain not only hyper- and hypo-sensitivity
to sensory stimuli, but also certain attentional abnormalities, such as over-focused
attention and difficulty in detaching attention from a particular stimulus. In a
detailed and authoritative review of research into RRBs in autism, Leekam et al.
(2011) also argue that the ‘impaired arousal’ theory has potential explanatory
value for RRBs.
The impaired arousal theory does, however, face some conceptual difficulties.
In particular, although dysregulation of arousal levels is consistent with problems
of sensory modulation, it can less easily explain the more widespread problems of

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sensory processing that are commonly, possibly universally, present in people with
ASD (summarised in Chapter 3 — for a fuller account, see Baranek et al., 2014).
Moreover, sensory processing impairments occur in a clinically recognised group
of individuals who are not autistic. The differentiation or overlap between ‘sensory
processing disorder’ and sensory processing anomalies in ASD has only begun to
be investigated (Schoen et al., 2009).
In sum, the impaired arousal theory is a major contender as an explanation, or
part explanation, of RRBs in ASD but is currently in need of further theoretical
development and testing.
The impaired executive function theory
Definition The notion of an executive system in the brain derives from an
analogy with computers in which a master program controls and directs all the
software programs on the machine. Based on this analogy, the term ‘executive
functions’, as used in psychology, generally covers the set of cognitive processes
that are involved in the organisation and control of mental and physical activity.
At the minimum, executive functions enable an individual to:

STOP doing one thing: this involves inhibitory control and the ability to disengage
attention from a current stimulus, ongoing thought process or action;

SWITCH to something else: this involves mental flexibility; not just stopping
doing one thing, but shifting attention to a new stimulus or shifting mental set;
START on something else (e.g. a new topic of thought or a different physical
action): this involves generating a new focus of attention such as a topic or goal,
planning how to achieve the goal, and initiating the selected behaviour.

Executive functions are also involved in:

ORGANISING ongoing behaviour;

MONITORING ongoing behaviour;
TROUBLESHOOTING or MAKING CORRECTIONS, if required.

These additional components may involve strategy generation, decision making,

self-monitoring and action-outcome monitoring, and working memory. All the
terms in upper case, italic or in bold type above appear in accounts of executive
functions, plus others not included here. Not surprisingly, ‘executive function’ is
often described as an umbrella term, covering multiple processes.’
History Evidence suggestive of executive dysfunctions (EDFs) was first demon-
strated in people with ASD by Rumsey (1985), although anticipated in an influ-
ential paper by Damasio and Maurer, published in 1978. Rumsey’s finding of

3A narrower meaning of ‘executive function’ occurs in Baddeley and Hitch’s model of working memory (Baddeley,
1986, 2000), but the term is used only in its broad sense here.

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What Causes Autism?

perseverative, or ‘stuck-in-set’, behaviour in autistic adults was quickly confirmed

in other studies, including one by Russell et al. (1991) with particularly striking
findings, as summarised in Box 9.1.

Box 9.1 The ‘windows task’

The original task devised by Russell and his colleagues consisted of placing a
chocolate, or other desired treat, in one or the other of two boxes placed side by
side on a table directly in front of the child being tested, and between the child and
the Tester sitting opposite. Three sides of each container were opaque, but the
sides facing the child had ‘windows’ enabling them to see what, if anything, was in
each box. The child’s task was to point to one of the boxes which the Tester would
then have to open, leaving the other box for the child to open. In order to win the
treat, the child must therefore point to the empty box, so that the box with the treat
in it is left for them to open.
In the original experiment, children with Down syndrome and typically devel-
oping 4;0 year olds quickly learned to point to the empty box. Astonishingly, the
majority of the children with autism were completely unable to succeed on the
windows task, making the wrong response as many as 20 times in succession.
This striking finding could suggest that children with ASD have impaired
response inhibition: they simply cannot stop themselves from pointing to the con-
tainer in which they can see the chocolate. Or possibly they have difficulty in dis-
engaging their attention from the treat, so point to where their attention is held.
However, numerous alternative explanations have been explored over the years,
with Russell and various colleagues painstakingly investigating and attempting to
rule out alternative explanations.
a

The experiments reported by Rumsey and by Russell and colleagues, amongst

others, showed that people with autism have problems in stopping doing one thing,
disengaging their attention from an ongoing response pattern, and switching attention
so as to start doing something different. At around the same time, various reports
of impaired generativity in autistic children were published (for references, see the
section on ‘Imagination and Creativity: Strengths and Weaknesses’ in Chapter 3).
Following publication of these early papers, and armed with the concept of an
executive system with top-down control of lower-order processing, hypotheti-
cal links between EDFs and various facets of autistic behaviour were intensively
investigated and discussed (see Hill, 2004, and Russo et al., 2007, for reviews).
Findings on tests of various executive functions were, however, very mixed, tend-
ing to vary according to the age and ability of those being tested, and the specific
tests used (Prior & Ozonoff, 2007).
Moreover, regarding suggestions that impaired executive control could explain
RRBs, it became increasingly evident that this explanation did not satisfy either the
primacy criterion (that proposed causes must precede their proposed effects) or
the specificity criterion (that proposed causes of autism-specific behaviours must
not occur in non-autistic groups) (see Chapter 6). Regarding the primacy criterion:

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 Diagnostic Behaviours

whereas motor stereotypies and resistance to change are present in infants and
toddlers with ASD (Kim & Lord, 2010; Wolff et al., 2014), most aspects of exec-
utive control develop over an extended period of childhood into late adolescence.
Moreover, very early developing executive functions are not impaired in preschool
children with ASD (Griffith et al., 1999). Regarding the specificity criterion, exec-
utive dysfunctions are common in learning disabled individuals without autism
(Hill, 2004). There is, in addition, something of a chicken-egg problem concerning
the relationship between EDFs and repetitive and restricted behaviours. This is
because the most reliably-occurring EDFs in people with autism are associated
with perseveration — which is by definition a form of repetitive behaviour.
In their extended review of research and theory relating to RRBs cited above,
Leekam et al. (2011) make these arguments, among others, as evidence against
impaired executive function as the major, or critical, cause of RRBs. Davis and
Plaisted-Grant (2015), however, move the discussion on by arguing that their
‘low endogenous noise’ hypothesis (see below) can explain the mixed findings on
EDFs in autism, as well as explaining other manifestations of repetitive behaviour.
Pellicano (2012a) makes the additional important point that regardless of the fact
that EDFs are unlikely to be able to explain RRBs in autism, the intactness or
otherwise of executive functions have real-life consequences for people with ASD.
Six sensory-perceptual imbalance theories
(i) The weak central coherence theory In 1983, Shah and Frith showed that chil-
dren with ASD have superior ability to pick out a particular detail of a picture
representing a whole object or scene. The test they used resembled the kind of
puzzle sometimes found in books bought for children to pass the time on a jour-
ney, as illustrated in Figure 9.1.
In 1989, Frith suggested that people with autism have a ‘weak drive for central
coherence’, basing her notion of ‘coherence’ on work in psychology showing that
neurotypical people have a strong tendency to look for meaning in sensory experi-
ence. Frith argued that a weak drive for meaning, or what she termed weak central
coherence (WCC), could explain not only the results of her study with Shah,
but also early reports that children with autism solve jigsaw puzzles by attending
to the shape of the pieces rather than to the pictures; and that they recall sen-
tences or lists of related words no better than they recall lists of unrelated words
(Hermelin & O’Connor, 1970).
Frith (1989) further suggested that superior ability to process detail resulted
from impaired ability to integrate parts into wholes. In neuropsychological ter-
minology, superior local processing was hypothesised to result from defective
global processing. An explanation in terms of impaired global processing fits well
with first-hand accounts such as that of John van Dalen, quoted in Box 3.4, who
describes the effortful route he must take to assemble in his mind the parts of
an object (such as a hammer) and the name of the object, and his knowledge
of theproperties and functions of the object. The suggestion that superior local
processing results from impaired global processing is also intuitively plausible: if
we are poor at doing one thing, we may compensate by becoming unusually good
at doing the next best thing. The combination of enhanced local processing with

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What Causes Autism?

Figure 9.1 A test of the ability to pick out a detail, in this instance a face,
concealed within a larger picture

impaired global processing is also consistent with what is now known about anom-
alous brain connectivity in people with ASD.
Following the introduction of the WCC theory, there was a spate of reports of
phenomena consistent with the suggestion that enhanced local processing is typi-
cal in people with ASD (see Box 9.2 for some examples).
However, there was less support for the suggestion that global processing ability
is impaired in autism. Specifically, several studies showed that people with ASD
are able to perceive wholes rather than parts, and to attend to meaning rather
than to surface appearances or sounds, if directed towards doing so. For example,
if shown a large capital letter ‘A’ made up of many smaller-sized letter ‘Hs’ and
specifically directed to name the large letter, individuals with ASD are as fast and
as accurate as comparison groups (Plaisted et al., 1999). However, if asked simply
what letter they see, they show a bias towards naming the smaller letter in the
design (Ozonoff et al., 1994).
Evidence against impaired global processing led Frith, now working with Happé,
to modify the WCC theory. They relinquished the suggestion of a deficit in global
processing, and suggested instead that the findings on sensory-perceptual pro-
cessing in autism could be interpreted in terms of a preference, or bias, towards
processing parts rather than wholes (Happé & Frith, 2006). They based this sugges-
tion on the assumption that biases towards global as opposed to local processing are
distributed as a continuum within the general population. Thus ‘while the person
with weak coherence may be poor at seeing the bigger picture, the person with

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 Diagnostic Behaviours

Box 9.2 Evidence relating to the weak

central coherence theory
Superior recognition of inverted faces Participants are shown several passport-
type photographs of unknown faces. A short while later each face is shown to the
participant again, paired with a face the participant has not seen before, both faces
being presented upside down. The participant is asked: which of these did you see
just now? People with ASD perform better than people without ASD. Conclusion:
because it is known that it is the ability to process upright faces as wholes that
makes processing inverted faces difficult for most people, it may be concluded that
people with ASD do not process faces as wholes.
Superior (faster than average) performance on the block design test High-
functioning people with ASD are faster than people without ASD on this test
(described in Box 4.1). Conclusion: people with ASD, unlike others, are not slowed
down by seeing the goal pattern as an unsegmented whole: the ‘bits’ of the pattern
are immediately obvious to them.
Detail-focused and fragmented drawings Participants are shown line drawings
and asked to copy them. People with ASD are, unusually, likely to start by drawing
a detail, and to draw fragments of the original picture rather than indicating the
whole.
Inferior ability to assemble a given set of sentences to tell a coherent story This
suggests impaired ability to integrate parts into meaningful wholes.

(Examples are taken from the review by Happé and Frith, 2006,
where relevant references can be found.)

strong coherence may be a terrible proof reader’ (Happé & Frith, 2006: 15). The
new suggestion was that people with ASD have a cognitive style that places them
among those who are particularly poor at seeing the bigger picture. In colloquial
terms, they ‘can’t see the wood for the trees’.
(ii) The enhanced perceptual function theory The enhanced perceptual function
(EPF) theory was proposed by Mottron and Burack (2001; see also Mottron et al.,
2006) in response to evidence of enhanced local processing in the absence of
any absolute impairment of global processing in people with ASD. Mottron and
Burack use the term ‘perceptual’ quite broadly to include the detection of what
they term ‘surface properties’ of stimuli, such as the pitch and loudness of audi-
tory stimuli, and the contours and proportions of visual stimuli.
Mottron and Burack were particularly influenced by their investigations of
savant abilities in two individuals, one with outstanding musical abilities (Mottron
et al., 1999), the other with outstanding drawing ability (Mottron & Belleville,
1993). The young woman with savant musical abilities has absolute pitch (some-
times referred to as perfect pitch) and superior ability to identify single notes
played within a chord, indicating exceptional perception of auditory detail. These
exceptional auditory abilities are not confined to savants, as they are shared by
many individuals on the spectrum (Heaton, 2003). The savant draftsman studied

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What Causes Autism?

Figure 9.2 A spontaneous drawing by the savant artist E. C. (kindly provided

by Laurent Mottron, Professor of Psychiatry and Marcel and Rolande Gosselin
Research Chair in Neuroscience of Autism, University of Montreal)

by Mottron and Belleville can draw perfect circles and ellipses, and his sponta-
neous drawings demonstrate exceptionally accurate reproduction of contours,
proportions and perspective, as illustrated in Figure 9.2, demonstrating superior
perception of visual detail. The exceptional local processing abilities of these
savants led Mottron and his colleagues to hypothesise that enhanced processing
of the surface properties of visual or auditory stimuli could explain anomalous
sensory-perceptual processing in people with ASD without invoking a deficit in
global processing.
Subsequent studies by this group have confirmed enhanced perception of stim-
uli, whether visual or auditory, that are processed in primary sensory cortical areas
of the brain (Bertone et al., 2005; Bonnel et al., 2010). However, contrary to the
original version of the EPF theory, Bonnel et al. also reported impaired processing
of complex stimuli, but only in lower-functioning individuals.
(iii) The enhanced discrimination-reduced generalisation theory Plaisted et al.
(1998) reported a study in which children with ASD and age- and ability-
matched typically developing children were given two visual search tests.
In one test children were shown a display of letters and instructed to find,
for example, a green ‘S’ from among some red or green ‘Ts’ or ‘Xs’. In this
‘single-feature’ task, children had only to look for the ‘S’ shape, ignoring colour.
In the second test children were instructed to find, for example, a green ‘X’ from
among some green ‘Ts’ and red ‘Xs’. In this conjunctive search task, children had
to look for the unique combination of colour and shape distinguishing the target

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letter from surrounding distractors. Children with ASD performed as well as the
typically developing children on the single-feature task, and outperformed them
on the conjunctive search task.
From this experiment (and other related experiments that followed) Plaisted
and her colleagues concluded that people with ASD have enhanced ability to
extract the unique elements of a stimulus such as are utilised in discriminating
between stimuli, i.e. telling them apart; combined with reduced ability to pro-
cess the similarities between individual items such as are utilised in generalising
across stimuli, i.e. responding to a novel stimulus on the basis that it resembles
previously experienced stimuli. So, for example, a child with an ASD might
be exceptionally sensitive to the differences between one make of cornflakes
and another, but insensitive to the similarities and therefore reluctant to eat
cornflakes of an unfamiliar brand.
(iv) The hypo-priors theory In an extended critique of earlier theories in this
group, Pellicano (2012b) concluded that neither the weak central coherence the-
ory nor the enhanced perceptual function theory is fully compatible with availa-
ble evidence. She suggested instead that reduced generalisation, as argued for by
Plaisted and her colleagues, might be critical for understanding sensory-perceptual
anomalies in ASD.
Generalisation underlies the formation of prototypes, or what Pellicano refers
to as priors, which are stored in long-term memory and against which new exem-
plars may be compared. In the example used above, most of us could describe
what we consider to be ‘prototypical cornflakes’ and we don’t quibble if the make
offered to us when away isn’t quite the same as what we have for breakfast at
home. For a child with no prototype — instead only an image of the cornflakes she
eats at home — even small differences in colour, shape, texture, taste will be unex-
pected and responded to with suspicion and frustration. Reduced generalisation
is, therefore, and as suggested by Plaisted and colleagues, likely to be accompanied
by enhanced discrimination: differences become more important than similarities.
Pellicano and Burr (2012) used mathematical modelling to support their argu-
ment that the existence of hypo-priors (poorly defined or narrowed prototypes) in
people with autism leads to greater than usual reliance on incoming sensory signals.
They go on to argue that this can explain both hyper-sensitivity and hypo-sensitivity
to sensory stimuli, sensory soothing as well as sensory seeking, RSMs as well as
forms of IS, and also the phenomenon of sensory overload. These claims, although
intuitively plausible, clearly need to be fleshed out and tested.
predictive coding theory and (vi) the low endogenous
(v) The aberrant precision of
noise theory These two theories extend, respectively, Pellicano and Burr's
hypo-priors theory and Plaisted et al.’s enhanced discrimination-reduced gener-
alisation theory.
The aberrant precision theory was proposed by Friston et al. (2013) in a com-
mentary on the Pellicano and Burr (2012) paper, and an extended account of the
theory can be found in Lawson et al. (2014). These authors link the role of ‘priors’,
as defined by Pellicano and Burr, to probabilistic predictive coding in the brain.

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They argue that weak establishment of priors would lead to an over-reliance on

sensory evidence in anticipating, or predicting, perceptual experiences. This in
turn, they argue, would lead to prediction errors — misperceptions — which the
autistic person attempts to minimise by self-generated repetitive actions.
The low endogenous noise theory was proposed by Davis and Plaisted-Grant
(2015). This theory builds on the literature relating to the effects of ‘neural noise’
in the brain, possibly resulting from brain stem abnormalities (cf the ‘impaired
control of arousal’ theory). Whereas others, such as Rubenstein and Merzenich
(2003) and Simmons et al. (2007), had hypothesised that excessive neural noise
could explain sensory-perceptual anomalies in ASD, Davis and Plaisted-Grant
argue that reduced neural noise would increase acuity at sensory levels at the same
time as reducing spontaneous shifts of attention.
Comment All six theories considered in this section focus on an imbalance
between the processing of raw sensory data and the higher-order processes that
select, organise and utilise these data in the form of complex percepts — an imbal-
ance between bottom-up processing and top-down control. The exact nature and
source(s) of this imbalance remain in dispute. It is worth noting, however, that
theories within this group are increasingly driven by what is known about neural
functioning. This increases the complexity of the theories, but in ways that are
necessary for a detailed understanding of the peculiarities of sensation and per-
ception that are part of autism. Further developments in this field are likely, and
interested readers should look out for new research reports.
Similarly, all six theories outlined above are claimed by their proponents to
be capable of explaining at least some of the repetitive and restricted behaviours
characteristic of people with ASD. However, these claims remain to be substan-
tiated, and studies investigating hypothetical links are likely to be reported over
the next few years.

Two anomalous learning style theories

The hypersystemising theory As noted in Chapter8, Baron-Cohen et al. (2005)
hypothesised that exposure to abnormally high levels of testosterone in utero leads
to excessively masculinised brain development in people subsequently diagnosed
with ASD. According to the extreme male brain theory, the behavioural results of
this over-exposure are a combination of impaired empathising (discussed above)
and hypersystemising tendencies (Baron-Cohen et al., 2005; Baron-Cohen, 2009).
Systemising is defined by Baron-Cohen in terms of a drive to analyse and build
rule-based systems that can predict ‘non-agentive events’. ‘Hypersystemisers’, as
identified by their high scores on the ‘Systemising Questionnaire’ (SQ) (Baron-
Cohen et al., 2003), tend to be interested in how machines or technical devices
work; in how objects — whether buildings or pieces of furniture — are constructed:
in computer programming; maps, routes and travel networks; weather forecasting;
and numerical systems of all kinds from betting systems to higher maths.
Unusually strong systemising tendencies in people with low-functioning autism
are argued to cause repetitive behaviours and inability to cope with change.
However, in higher-functioning individuals hypersystemising tendencies can be

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 Diagnostic Behaviours

harnessed to achieve academic and professional success, contributing to outstand-

ing achievements in fields such as maths, physics and computer programming.
There is some evidence of stronger systemising tendencies in neurotypical
males than in neurotypical females; and some evidence that systemising tenden-
cies are more dominant in people with ASD (both males and females) than in the
general population (Lawson et al., 2004). However, it has yet to be shown that
hypersystemising is specific to people with ASD. Nor has it yet been shown that
hypersystemising is universal in people with those forms of ASD that include
repetitive and restricted behaviours of the kinds hypersystemising is said to explain.
A further criticism of the hypersystemising theory is that ‘systemising’ is not
a concept widely used by psychologists or neuropsychologists other than Baron-
Cohen and his collaborators. Phrases such as ‘pattern perception’ and ‘rule
extraction’ are more commonly used to refer to the kinds of functions ascribed
to ‘systemising’. And personality traits such as ‘persistence’ and ‘conscientious-
ness’ are used to refer to the kind of ‘drive’ ascribed to ‘hypersystemisers’. Novel
concepts in psychology and neuropsychology are welcomed and quickly utilised
if judged to have validity and practical usefulness — the speed with which the
concept of ‘mentalising’ was adopted illustrates this. The concept of ‘systemising’
has not been widely adopted, although it is used in a handful of studies on gen-
der differences in neurotypical populations. This may be because the functions
ascribed to systemising are those more generally ascribed to procedural memory,
as noted below.
The uneven memory/learning abilities theory Memory and learning are insepa-
rable, although the words have some different connotations and uses. Whatever
we learn is in some sense remembered. And whatever is remembered has in some
sense been learned. This is why the study of memory is important when consider-
ing the ‘what’ and ‘how’ oflearning.
Following Tulving (1995), human memory is widely considered to consist of
several partially independent systems, as shown in Box 9.3.
It is well established (Bowler et al., 2011; Gaigg et al., 2014) that even very
high-functioning people with ASD have impaired episodic memory: they do not
‘re-experience’ events in which they have participated, such as ‘your first day at
school’, although they may compensate by learning relevant facts, such as ‘the
Reception Class teacher was Miss Brown’; ‘the peg for my coat had a picture of
a rabbit beside it’. Less able people with ASD almost certainly have, in addition,
some degree of impairment of semantic memory, resulting in difficulty in acquir-
ing facts and also word meanings. By contrast, individuals with any measurable
abilities across the spectrum generally have intact or relatively intact perceptual
memory and immediate memory, additional to their intact procedural learning
abilities (see Boucher et al., 2012, for a review of relevant evidence).
The more widespread and severe an individual’s memory impairments, the
more that individual will be reliant on their intact memory/learning systems
(Ullman, 2004), a phenomenon which Ullman refers to as the see-saw effect. As
in the example above, high-functioning individuals will compensate for impaired
episodic memory by capitalising on their unimpaired semantic memory. They may

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What Causes Autism?

Box 9.3 Definitions and descriptions of

human memory systems

System _ Definition and description

Perceptual Briefly retains ‘snapshot’ records of single items (e.g. a flower, a musical
note, a whiff of scent), providing the option of further processing. Perceptual
memories are not accessible to consciousness and are described as implicit.
They cannot be reflected on or reported verbally, and are also described as
non-declarative. They do, however, influence behaviour.
Procedural Used for the acquisition of associations, habits, skills and the extraction of
regularities from experience. What is learned is implicit and non-declarative
(see above). Learning in most animals is procedural, as is early learning in
human babies. '
Semantic Stores factual information, including word meanings. What is learned is
available to consciousness and described as explicit. Because semantic
knowledge can be reflected on and reported verbally, it is also described as
declarative.
Episodic Stores complex information about personally experienced events (e.g.
what happened, where, when, how did | feel, who else was there, etc. etc.)
Sometimes referred to as relational memory, because the different elements
of this kind of memory belong together. What is remembered is explicit and
declarative (see above).
Working Holds the contents of immediate memory (see below) or recently retrieved
information in short term stores referred to as the visuo-spatial scratchpad
and the phonological loop. \nformation in these stores is consciously
modified, reorganized or otherwise manipulated.
Immediate A component of working memory (see above) which holds recently
perceived visual-spatial or verbal information in unmodified form for a limited
time. The unmodified information held in immediate memory is available to
consciousness and can be rehearsed, resulting in rote-learning. Sometimes
referred to as short-term memory (STM).

also rely to an unusual extent on their unimpaired perceptual, procedural and

immediate memory abilities. Lower-functioning individuals, who lack the ability
to compensate effectively using semantic memory, will be forced to rely heavily
on the latter three forms of memory.
An unusual degree of reliance on a limited set of intact memory/learning
systems may help to explain at least some facets of repetitive and restricted behay-
iour across the spectrum, as originally suggested by Bachevalier (1994, 2008) and
Kemper and Bauman (1998), and more recently in my own publications (Boucher
et al., 2005, 2008). Specifically, enhanced perceptual learning is consistent with
Mottron and colleagues’ ‘enhanced perceptual function’ theory, outlined above,
and may help to explain some savant abilities (Bokkon et al., 2013; Mottron et al.,
2013). An unusual degree of reliance on immediate memory can help to explain

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 Diagnostic Behaviours

echolalia and rote learning. Enhanced reliance on procedural memory in the absence
of episodic memory can help to explain why autistic people frequently acquire
associations that are resistant to change in the light of multiple differing experi-
ences (e.g. that dogs/balloons/swimming pools are frightening). It can also help to
explain the dominance of habits and routines (always heading towards the same
seat in the bus; always taking the same route to school/work/the shops) in place
of varying behaviour in ways involving the kinds of future thinking that is linked
to episodic memory (Lind & Bowler, 2010). Compensatory reliance on procedural
learning is also consistent with the unconscious extraction of regularities from
experience referred to as ‘enhanced pattern perception’ by Mottron et al. (2013),
and as posited in Baron-Cohen’s hypersystematising theory.
Non-specific aggravating factors
Chapter 6 included a section headed ‘Many-to-one’ in which it was stated that for
any set of autism-related behaviours there are numerous potential contributory |
causes or aggravating factors. RRBs were used to illustrate this point precisely
because so many different factors may be involved. The majority of ‘aggravat-
ing factors’ are, however, neither specific to, nor universally present in, people
with ASD: that is to say, they commonly cause forms of repetitive behaviours
and behavioural rigidity in people who are not autistic, as well as contributing to
this set of behaviours in some (but not all) people who are autistic. Some known
aggravating factors are considered below.
Anxiety/stress At times of stress many people will pace or rock; and when par-
ticularly anxious about something, most of us take comfort from those things
that feel familiar and ‘safe’. High levels of anxiety are so common in people
with autism, and anxiety is such a likely contributor to behavioural inflexibility
in autism, that for many years RRBs were generally explained only in terms of
an attempt to create and maintain predictability in an otherwise confusing and
anxiety-provoking environment.

Maladaptive learning This is most likely to occur in those individuals least able
to express themselves linguistically or to exercise control over events in more
overt and conscious ways. For example, an individual who finds the close prox-
imity of other people stressful and unpleasant may learn (unconsciously) that
spitting tends to make people move away, so spitting becomes for that individual
a habit that is reinforced because gaining space lowers the individual’s anxiety.
Some socially ‘active but odd’ individuals discover that enquiring what some-
one’s name is or the make of car they drive almost always achieves a friendly
response. This is reinforcing, so the question becomes that individual's habitual
way of opening up an interaction; and because they cannot sustain a conversa-
tion, the same question may be repeated, sometimes over and over again, to the
same person.
Comorbid conditions associated with repetitive behaviours Brain-based disorders
such as Tourette’s syndrome, Lesch-Nyan syndrome and OCD are all associated

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What Causes Autism?

with repetitive behaviours of certain kinds. All three of these conditions are known
to co-occur with autism, albeit rarely, and some of the most intractable repetitive
behaviours in a small percentage of individuals with ASD probably reflect such
comorbidity.

SUMMARY
Theoretical explanations of key facets of SEC impairments are considered in the
first major section of this chapter, followed by an account of theoretical explana-
tions of RRBs.
Candidates for the immediate, neuropsychological cause or causes of impaired
dyadic interaction are outlined and discussed. It is concluded that a decline in
dyadic interaction over the first year or so of life is most readily explained in terms
of the ‘impaired experience of social reward’ theory (Chevallier et al., 2012). The
effects of such an impairment would be gradual, building up over the first year of
life, consistent with data relating to onset of ASD. Another possible explanation
for the decline and subsequent significant and persistent impairment of dyadic
interaction is impaired timing. Although a strong theoretical case might be made
for it, this hypothesis has not been investigated. It is important to bear in mind
that the origins of impaired dyadic interaction may differ across individuals, with
one initial problem leading to or exacerbating another.
Regarding the immediate causes of impaired mentalising and mindreading capac-
ities, it was initially proposed that an impairment of explicit ToM results from a
genetically determined failure to develop a ‘theory of mind module’ in the brain.
When it became clear that this could not explain impaired implicit ToM and
impaired triadic relating, some modularists — including philosophers as well as
psychologists— argued for a genetically-determined failure to develop an ‘implicit
ToM module’, or ‘mentalising mechanism’. Meantime, the argument that specialist
mindreading modules are not programmed into brain development but are instead
constructed over time on the basis of innate abilities such as those involved in
dyadic relating, plus the operation of domain-general learning abilities, became
current in mainstream developmental psychology. Constructivist explanations of
impaired mentalising/implicitToM and impaired explicit ToM in autism are now
widely argued for. However, the details of processes which may be involved are
not agreed on.
Regarding the impairment of emotion processing, lack of emotional reciprocity
in people with autism is generally agreed to result from failure to integrate
the physiological experience of emotion with a conscious understanding of
what the emotion is about — what precipitated it and whether it constitutes,
for example, fear as opposed to anger. Failure to appreciate what one’s own, or
another person’s, emotion is about is commonly ascribed to impaired mental-
ising. However, it has recently been suggested (by Gaigg, 2012) that there may
be a wide-ranging impairment of the integration of emotion with experience,

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 Diagnostic Behaviours

such as would disrupt many sorts of learning, non-social as well as social. This
novel hypothesis remains to be tested.
Impaired communication across the spectrum is closely associated with the
impairments of mindreading and emotion processing. Specifically, because people
with ASD lack intuitive appreciation of others’ mental states (their knowledge,
beliefs, feelings, desires, etc.), communication tends to be egocentric not just in
topics that may be pursued, but also in poor turn-taking, poor listening, and fail-
ure to use the appropriate conversational and grammatical devices that help to
clarify meaning. Comprehension of others’ nonverbal communication signals is
impaired by difficulties in ‘reading’ other people’s emotional expressions, with
nonverbal expressivity sometimes marred by problems of integration and timing.
When language impairment is also present, communication is further significantly
compromised.
Attempts to explain the repetitive and restricted nature of autistic behaviour
have a long history. In the 1960s and 1970s, it was commonly suggested that the
preference for routines and insistence on sameness represented attempts to make
a confusing world more predictable and less anxiety-provoking. There is no doubt
that anxiety and some other non-specific factors, including maladaptive learn-
ing, and in some cases the presence of certain comorbid conditions, contribute to
stereotyped behaviours and resistance to change.
However, as early as the 1960s and 1970s, some clinician-researchers suggested
that impaired control of physiological arousal levels might explain the odd sensory
reactions of children with autism, their stereotypic movements and utterances, and
resistance to change. This theory lay dormant for three decades, but has recently
been strongly argued for by Leekam et al. (2011).
The dominating view during the 1980s and 1990s was that repetitive and
restricted behaviours in autism result from executive dysfunctions (EDFs). After
intensive investigation, however, it was concluded that EDFs are unlikely to be
able to explain RRBs in autism because this explanation fails to meet the required
criteria of primacy, specificity and universality (as detailed in Chapter 6).
In 1989, Frith introduced the concept of weak central coherence (WCC),
sparking a debate concerning the locus of problems associated with an imbalance
between bottom-up and top-down sensory-perceptual processing in people with
ASD, such as could explain the various forms of repetitive and restricted behav-
iour. Mottron and colleagues’ ‘enhanced perceptual function’ (EPF) theory, and
Plaisted’s ‘enhanced discrimination — reduced generalisation’ theory were more
concerned with sensory-perceptual abnormalities themselves, as opposed to their
possible roles as causes of repetitive behaviours. However, the most recent three
theories within this group — Pellicano and Burr's ‘hypo-priors’ theory, Lawson and
colleagues’ ‘aberrant precision’ theory, and Davis and Plaisted-Grant’s ‘low endog-
enous noise’ theory — all argue for causal links between the sensory-perceptual
abnormalities that they see as critical and RRBs in ASD. These links remain to be
empirically demonstrated. However, the convergence of interest in abnormalities
affecting the way sensory information is utilised in higher-order processing and the
increasing sophistication of theories in this field is encouraging.

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What Causes Autism?

Two theories focusing on anomalous learning strategies as explanations of RRBs

are Baron-Cohen’s ‘hypersystemising’ theory, associated with the ‘extreme male
brain’ hypothesis, and my own ‘uneven memory/learning abilities’ theory. Neither
of these theories has been taken up by the wider autism research community, and
the paired notions of ‘empathising’ and ‘systemising’ have proved more fruitful
for the study of gender differences in the normal population than for the study
of autism. If the ‘uneven memory/learning abilities’ theory were to gain support
in the longer term, I would expect it to prove compatible with theories envis-
aging higher-level processing abnormalities of the kinds that enforce reliance on
lower-level processing and forms of learning — in particular, excessive reliance on
perceptual, immediate and procedural forms of memory.
A final caveat is in order, of a kind made repeatedly throughout this book.
Behaviours falling under the DSM-5 descriptions of RRBs are extremely varied,
both within and across individuals and at different ages and stages of development.
Moreover, the developmental trajectories of RRBs in ASD are heterogeneous
(Richler et al., 2010). This suggests that there may be no single common factor
underlying RRBs as currently defined, but instead a number of contributory and
interacting factors, the mix being different in different individuals.

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PROXIMAL CAUSES 2: ADDITIONAL
SHARED CHARACTERISTICS AND
MAJOR SPECIFIERS
ADDITIONAL SHARED CHARACTERISTICS
Imagination and Creativity: Strengths and Weaknesses
Islets of Ability
Uneven Motor Skills
Impaired Sense of Self

MAJOR SPECIFIERS
Learning Disability
Language Impairment

SUMMARY
What Causes Autism?

AIMS ©
The first part of this chapter follows on directly from the previous chapter in that it
aims to provide an account of the immediate, or ‘proximal; causes of those ‘shared
characteristics’ described in Chapter 3 but which are not included in the diagnostic
criteria. The second part of the chapter moves away from explanations of shared
characteristics to consider possible causes of the two major sources of diversity
among people with ASD. These are the ‘major specifiers’ described in Chapter 4,
namely learning disability and language impairment.

ADDITIONAL SHARED CHARACTERISTICS

Imagination and Creativity: Strengths and Weaknesses

What has to be explained

A lack of imagination and creativity in people with ASD was referred to earlier
as the flip side of repetitive and restrictive behaviours: if you can’t think of new
things to do, say, think about, draw, cook, etc., you will inevitably get stuck in a
rut doing ‘the usual’ things, perhaps just repeating and repeating them. Studies
of facets of imagination and creativity in people with ASD have, however, pro-
duced confusingly mixed results (see Chapter 3). Specifically, it seems that
people with ASD can pretend and reason imaginatively, and they can generate a
whole string of different words or ideas for pictures, but only in certain circum-
stances. If prompted to use some junk materials in pretend play, for example,
or if asked to generate as many animal names as possible within a minute, even
lower-functioning people with autism perform relatively well; whereas they
do not use the junk play materials spontaneously, and if asked to generate ‘as
many words as possible’ (with their eyes shut) they perform poorly. Attempts to
explain uneven imaginative abilities in ASD must also take into account the fact
that a small minority of exceptionally able people with ASD make innovative
contributions to, for example, computer programming, theoretical physics or
philosophy — possibly also to musical composition.

Explanatory theories
In the early 2000s it would have been confidently proposed that executive dys-
functions (EDFs) could explain not only RRBs in autism, but also the lack of
creativity and imagination. However, the role of EDFs as a cause of RRBs has since
then been widely questioned (see Chapter 9). This makes it less easy to argue that
lack of creativity is caused by EDFs.
Nevertheless, there is a problem in generating novel ideas, words, drawings —
unless some cue is provided. This suggests a memory retrieval problem, such as
would not apply if an individual were running through a closely related subset of

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 Additional Shared Characteristics and Major Specifiers

ideas, where one response cues another: for example, ‘pig’ cues ‘cow’ cues ‘horse’
cues ‘dog’, etc.; or ‘(round) sun’ cues ‘moon’ cues ‘face’ cues ‘apple’, etc.
Similarly, there is a problem of planning, if conceptualised as ‘future thinking’
(Lind & Bowler, 2010; see Chapter 9). Future thinking involves the projection
of ‘self’ into an imagined future experience or activity. It also involves bringing
together the components of a plan, such as where, when, with whom, with what
preparations. Impaired planning might therefore relate more to anomalies of
sense of self or to impaired integrative capacities than to executive dysfunction
(Lind et al., 2014).
There may also be a problem of initiating, or getting started on, a non-routine
activity, or a different activity from that in which one is currently engaged. An
anecdote from my own experience, recounted on Box 10.1, illustrates this kind of
‘behavioural inertia’.

Box 10.1. An illustration of behavioural inertia

contrasting with purposeful activity
On arrival at a residential centre for lower-functioning young adults with ASD,
| went to the dining room where a dozen or so of the residents were having tea,
seated round a table. All were appropriately occupied spreading jam onto bread,
stretching out for biscuits, going to the trolley for a second cup of tea. There was
little interaction and the room was oddly silent, but in other respects the level of
purposeful and appropriate activity gave no clue as to the young people’s autism.
When the eating and drinking were finished, however, and each individual had
cleared away their own plates, mugs, etc., no doubt following a well-learned rou-
tine, the majority returned to their seats at the table and relapsed into inactivity,
not interacting, not looking around, with one or two rocking or engaged in some
other stereotopic activity. The contrast between the normality of the routinised
behaviour and the lack of self-initiated purposeful activity at the end of the meal
was very striking.

An inability to voluntarily initiate an action or activity might be ascribed

to psychic akinesia.' Whereas akinesia refers to a neuromuscular condition
involving impairment or loss of voluntary movement (as in Parkinsons’s disease,
for example), psychic akinesia is defined as ‘an absence of voluntary motion
without any apparent motor deficit’. When it occurs in non-autistic individu-
als, it is described as being accompanied by reduced affect, and by compulsions
and repetitive actions. A prompt, however, such as a direct command or physi-
cal support, enables the person to carry out complex physical and mental tasks
fully efficiently. The potential relevance of psychic akinesia for understanding
some facets of autism, or some individuals with autism, is inescapable. And the

!Words or phrases in bold type on first occurrence can be found in the Glossary.

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What Causes Autism?

potential relevance for day-to-day care and intervention is even more striking
and important. However, there are no reports of research investigating possi-
ble links between autism and psychic akinesia. Therefore the suggestion made
here that this condition might help to explain the mixed findings on creativity
and imagination in ASD must be seen as speculative.

Islets of Ability

What has to be explained

As in the case of imaginative and creative abilities, it is mainly the unevenness —
the mixture of ‘can’ and ‘can’t’ do — that has to be explained. In Chapter 3, the
concept of ‘fine cuts’ was introduced, referring to the phenomenon — which is
particularly striking in autism — of two closely-related facets of behaviour, one of
which is impaired, the other unimpaired. In what follows, each of the ‘fine cuts’
outlined in Chapter 3 will be briefly discussed. Possible explanations of the even
more striking phenomenon of savant abilities will also be considered.
Explaining some ‘fine cuts’
Spared social interaction ability: Attachment ‘Attachment’ is demonstrated by
an infant’s or young child’s preference for maintaining contact with or physical
closeness to primary caregivers, by showing distress if left with strangers, and relief
and comfort-seeking on reunion with the familiar caregiver. At times of stress or
distress, infants and young children will preferentially seek out an attachment fig-
ure and go to them for security and comfort. Attachment has clear survival value
and is evolutionarily old, occurring in primates and most other mammals in some
form or other. It can therefore be safely assumed that attachment behaviours are
genetically programmed to occur from an early age, and will manifest themselves
so long as primary caregiving is normally nurturant and responsive to the infant’s
and young child’s needs.
Relatively normal attachment in most children with ASD can therefore be
explained in terms of the intactness of the genetically determined predisposition
to form attachments. However, secure attachment is also dependent on the sen-
sitivity of primary caregivers to the child’s needs, and in the case of infants with
incipient ASD, the expression of needs may be idiosyncratic. In addition, as their
child’s ‘autistic-ness’ emerges, primary caregivers (usually parents) have to come
to terms with the fact that their baby has stopped developing entirely normally.
This may disturb their interactions with the child and help to explain why attach-
ment is only ‘relatively’ normal in children with ASD (Oppenheim et al., 2009;
Kahane & El-Tahir, 2015).
Spared communicative ability: Protoimperatives The fine cut between intact use
of protoimperatives and impaired use of protodeclaratives is readily explained in
terms of whether or not mentalising/mindreading is involved. Protoimperative
behaviours merely involve indicating in some way a wanted object or action,
whereas protodeclarative behaviours involve the ability to represent in one’s

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 Additional Shared Characteristics and Major Specifiers

own mind ‘that Daddy will like to see my picture’, ‘that Granny will see what I
am pointing to’.
Spared cognitive abilities: Rote memory, fitting and assembly tasks, mechanical
reading Unusually good rote memory may result indirectly from an impairment
of key memory systems such as would leave affected individuals no option but
to compensate as far as possible by using spared forms of learning (the ‘see-saw
effect’ noted in the previous chapter). Spared forms include immediate mem-
ory, which underpins rote learning. An unusual degree of reliance on this kind of
memory/learning would tend to maximise an individual’s potential in this area,
producing a relative peak of ability.
The sparing of fitting and assembly skills even in moderately or severely learn-
ing disabled individuals with ASD is consistent with the enhanced perceptual
function argued for by Mottron and his colleagues, and discussed in Chapter 9.
Mottron’s research group has shown that less able individuals with ASD tend
to process incoming sensory information solely in the primary sensory regions,
leading to enhanced perception of simple stimuli, but impaired perception of
more complex or meaningful stimuli such as would normally involve associa-
tive cortical regions (Bonnel et al., 2010). Enhanced perception of visual detail,
in the absence of meaningful associations, can explain the peaks of ability in
fitting and assembly tasks that are most striking in lower-functioning individuals
with autism.
Enhanced perception of visual detail in the absence of meaningful associations
can also explain the kind of mechanical reading ability that sometimes occurs in
less able autistic individuals. However, in this case it has to be assumed in addition
that associations have been implicitly acquired, linking letter shapes and letter
combinations to spoken sounds.

Explaining savant abilities

Savant abilities occurring in learning disabled individuals, often those with autism,
is most commonly explained in terms of enhanced perceptual and/or procedural
learning abilities, coupled with extensive spontaneous practice. For representative
summaries of the evidence and arguments supporting the component parts of this
explanation, see Dawson et al. (2008), Pring (2008) and Snyder (2010).

Uneven Motor Skills

What has to be explained

In Chapter 3 it was stated that impairments of motor skills are almost certainly
a universal feature of autism, but that some skills are conspicuously spared in at
least some individuals, for example in skilled pianists or agile climbers. Moreover,
the patterns of strengths and weaknesses are quite varied, and may be different in
higher-functioning as opposed to lower-functioning individuals.
While bearing in mind the spared abilities in this domain, the following forms of
motor impairments are commonly observed, as identified in Chapter 3:

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What Causes Autism?

e Abnormalities of gait and posture.

e Clumsiness and slower than average movement repetition.
e Co-ordination problems (‘dyspraxia’).
e Impaired imitation of others’ self-directed body movements.

Motor stereotypies — RSMs — could be included under the heading of motor

impairments. However, their possible causes were considered in the section on
‘Explaining RRBs’ in Chapter 9, and are not further discussed here.
Explaining motor impairments
The immediate, or proximal, causes of motor impairments and anomalies in
people with ASD are part-physical and part-neuropsychological.
Physical factors Physical causes of impaired motor skills in at least some peo-
ple with ASD include reduced muscle tone — hypotonia — which may be asso-
ciated with joint laxity (Shetreat-Klein et al., 2014). These physical anomalies
explain, or help to explain, the abnormalities of posture and gait that are com-
monly observed in people with ASD across the spectrum. Hypotonia and loosely
articulated joints can also help to explain why both gross and fine movement are
often described as clumsy and/or slow. This combination of physical anomalies is
common in a number of neurodevelopmental disorders of known genetic origin,
especially but not exclusively those associated with learning disability. Such dis-
orders include Down syndrome, Williams syndrome and Prader-Willi syndrome,
all of which occasionally co-occur with ASD, with possible implications for
understanding genetic variations that may predispose to autism.
Persistent toe-walking when it occurs in people with ASD occasionally results
from a physical anomaly known as ‘tight heel cords’, in which the Achilles tendons
are either hypertonic or congenitally short (Barrow et al., 2011). However, it may
in some cases be neurological in origin (Accardo & Barrow, 2015), which could
be consistent with a currently unexplained (and controversial) association between
toe-walking and language impairment. Other cases of persistent toe-walking appear
to result simply from habit: if asked to walk normally the individual is capable of
complying, but once their attention shifts from the way in which they walk, the
tip-toe pattern returns. Toe-walking resulting from habit can be corrected (Marcus
et al., 2010). Toe-walking of physical or neurological origin is more difficult to treat.
Neuropsychological causes Poor co-ordination may affect both gross and fine
movements, and although likely to be due in part to neuromuscular anomalies,
the major cause is neuropsychological, involving impaired motor planning and
control. Planning and control of fine movement can be assessed using ‘reach and
grasp’ tasks, as illustrated in Figure 10.1 (the apparatus is shown as though the
reader were sitting opposite the person being tested).
The apparatus illustrated in Figure 10.1 is taken from a paper by Hughes (1996).
In Hughes’ study, the child’s task was to lift the bar using one hand and place it
end-up in one of the rings, following an instruction. The instructions were varied
according to whether the bar should be picked up at the black or the white end,
and whether it should be placed in the blue or the red ring. Some of the place-
ments are awkward to carry out unless the grip used is varied from ‘overhand’

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 Additional Shared Characteristics and Major Specifiers

Figure 10.1 Starting off with an overhand grip (top picture) results in a
comfortable positioning of the hand when placing the black end of the bar into
a ring (lower picture, left). However, it results in an awkward positioning when
placing the white end of the bar into the ring (lower picture, right) (from
Hughes, 1996: 103)

(as in the figure) to ‘underhand’. Use of the underhand grip requires the ability
to plan and control a goal-directed movement, and the lower-functioning autistic
children in Hughes’ experiment were less able to do this than either typically
developing preschool children or intellectually disabled children without autism.
Subsequent studies have demonstrated that impairments of motor planning and
control also occur in people with higher-functioning ASD (van Swieten et al.,
2010; Forti et al., 2011; Stoit et al., 2013). There is some dispute as to the precise
nature of the neuropsychological impairments underlying findings such as that of
Hughes. Do people with ASD lack the ability to envisage (at an unconscious level)
the end-point or goal of the movement? Or do they not (unconsciously) plan the
sequence of muscular activities required? Do people with ASD have problems of
action preparation and initiation, as suggested earlier in this chapter, rather than
problems of action execution? Is there a problem to do with timing, affecting the
smooth synchronisation of movement components? Do people with ASD lack
some kind of checking, or error-correction, ability? Do they lack a detailed body
schema such as might direct their movements accurately? It might have been sug-
gested that executive dysfunction was involved, but this was ruled out in studies
by Rinehart et al. (2006) and van Swieten et al. (2010).

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What Causes Autism?

Naming poor co-ordination in ASD ‘dyspraxia’ or ‘developmental co-ordination

disorder’ is not helpful, because the precise nature and neuropsychological origins
of these disorders has not been established. Readers who have an interest in more
detailed discussion of these impairments as they occur in ASD might start by look-
ing at the work of Mostofsky and colleagues over recent years, covering the nature
of the difficulties, their brain bases, and also treatment options (see Mostofsky &
Ewen, 2011, as a starting point, but interested readers should search for recent
publications by Mostofsky’s group).
Finally, impaired imitation of others’ body movements probably results from
problems of self-other equivalence mapping (as mentioned in Chapter 3), rather
than from impaired motor abilities per se. However, the problem was at one time
thought to be associated with dysfunctional mirror neurons (Williams et al.,
2001; Oberman & Ramchandran, 2007), and this theory is still discussed (see, for
example, Gallese et al., 2013), although supportive evidence is lacking (Hamilton,
2013). Mirror neurons are cells that are activated in motor areas of the brain when
we see another person carrying out an action. Thus these cells ‘mirror’ the neural
activity in the brain of the individual carrying out the action. The broken mir-
ror theory, as it came to be called, generated considerable excitement for a time,
because it was claimed to help explain not only impaired imitation in people with
ASD, but also the impairments of empathy and mindreading.
Explaining spared motor abilities
The sparing of some motor abilities, even in quite low-functioning individuals
(see Chapter 3), reflects the fact that well-practised, highly automated move-
ments are performed well, whereas the acquisition of new skills, or responding
to a novel motor task that requires conscious control, pose greater difficulty. This
pattern of findings is consistent with the autism-specific pattern of memory/learn-
ing strengths and weaknesses which has been commented on in various sections
of this chapter and the previous one. Specifically, procedural memory is strikingly
unaffected in people with ASD, as demonstrated not only in the relative ease
with which they acquire associations, habits and routines, but also in stringent
tests used in research studies (Brown et al., 2010; Nemeth et al., 2010: Foti et al.,
2015). Intact procedural memory is consistent with unimpaired implicit — uncon-
scious — acquisition and performance of motor skills. By contrast, any kind of
new learning that involves remembering instructions, or consciously learning from
past mistakes, will be affected by the kinds of problems of explicit — conscious or
‘declarative’ - memory and learning known to occur in people with ASD.

Impaired Sense of Self

What has to be explained

A varied range of evidence shows that self-concept in people with autism is lim-
ited in certain specific ways. Despite having good factual knowledge about who
they are (‘a boy’, ‘age 15’, ‘my name is Darren’, ‘I go to school at X college’,
‘Lam good at maths’, ‘I enjoy swimming’), they lack the kind of autobiographical
memories that enliven our sense of who we are (‘that time I scored the winning

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 Additional Shared Characteristics and Major Specifiers

goal’, ‘when I had to go to hospital’, ‘the arguments I get into ...’). They also lack
understanding of their own emotions and the ability to name them, and they have
poor understanding of how they may be seen by other people.
Explaining poor sense of self
Impaired mentalising Frith, who first argued that impaired mindreading in
autism results from an inability to represent in one’s own mind the mental states
of others, went on to suggest that impaired mentalising would also affect knowl-
edge and understanding of one’s own mind (Frith & Happé, 1999; Happé, 2003).
So, for example, someone with autism might have the physical feelings that go
with being happy but not be able to represent in their own mind — to know -
that ‘I am happy’, any more than a smiling gurgling baby knows — is consciously
aware — that she is happy.
Impaired mentalising would impoverish not only knowledge of one’s own
emotional states, but also knowledge of one’s own psychological states and predis-
positions, for example, ‘I tend to get depressed’, ‘I’m not that interested in other
people’. It would also reduce the ability to see oneself as others might see us, for
example, ‘I probably come across as a bit of a swot’, ‘I’m popular because I can
make people laugh’.
Impaired episodic memory Impaired episodic memory would impoverish the
autistic person’s sense of self in terms of a personalised, as opposed to a purely
factual, autobiography. However, there is a potential ‘chicken—egg’ problem here,
in that the essence of an episodic memory is that one retains a sense of having
experienced certain events oneself — of having been there at the time, of having
either participated actively in the event, or of having reacted in some memorable
way to some seen or heard event. Episodic memories always involve the ‘I’ in some
way, what Jordan and Powell (1995) termed ‘the experiencing self’. Theoretically,
therefore, episodic/autobiographical memory might be impaired as result of an
impoverished self-concept, rather than vice versa.
However, another key characteristic of episodic memory is that it involves bind-
ing together the disparate elements of an experience. For this reason, episodic
memory is sometimes referred to as relational memory. Studies by Bowler and
colleagues (2014), Lind et al. (2014) and Gaigg et al. (2015) do in fact show
that the major problem underlying impaired episodic memory is one of binding
together the elements of a complex experience rather than an impaired sense
of self. It is therefore safe to conclude that an impairment of episodic/relational
memory underlies impaired autobiographical memory and thereby self-concept,
rather than cause and effect occurring the other way around.

MAJOR SPECIFIERS
In this section, proximal causes of the two most common and debilitating specifi-
ers identified in DSM-5, namely learning disability and language impairment, are
considered. Proximal causes of other listed specifiers will not be considered here:

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some are medical conditions that are more readily explained at the etiological
and/or neurobiological level (e.g. Fragile-X syndrome, tuberous sclerosis); some
are rare (e.g. catatonia); and accounts of the proximal causes of relatively common
comorbid neurodevelopmental and mental conditions such as ADHD, anxiety and
depression can be found in the relevant specialist literatures.

Learning Disability

What has to be explained

In Chapter 4 it was reported that the results of intelligence tests such as the
Wechsler scales (Wechsler, 1999, 2004) show that nonverbal intelligence quotients
(NVQs) are generally higher than verbal quotients (VQs) in learning-disabled
people with ASD. NVQs mainly reflect fluid intelligence, or ‘g’ (general reasoning
capacity, largely but not wholly genetically determined). VQs, on the other hand,
mainly reflect crystallised intelligence, or ‘knowledge’ such as is acquired from
day-to-day experience and from education. This knowledge includes factual infor-
mation, such as that Paris is the capital city of France. It also includes words and
word meanings, for example that ‘dog’ refers to an animal with four legs, which
barks, wags its tail, etc. Explanations of learning disability in ASD must be capable
of explaining why crystallised intelligence is generally more impaired than fluid
intelligence.
Explanatory theories
There has been remarkably little research into the causes of learning disability in
ASD, despite the fact that it is extremely common, and — in combination with
autism and language impairment — extremely handicapping. There appears to be
a widespread assumption that learning disability is simply another comorbid con-
dition, probably associated with generalised brain abnormality, and of no great
theoretical interest. However, if this were true, fluid intelligence should be as least
as much affected as crystallised intelligence, which is not the case.
Four likely causes of learning disability in lower-functioning people with ASD
are considered below, bearing in mind the need to explain the VQ < NVQ dis-
crepancy. They are: impaired language; socio-cultural deprivation; an impairment
of semantic memory/learning ability; and subaverage fluid intelligence. These four
causal factors are likely to be cumulative and interactive.
Impaired language Factual knowledge of the kind assessed in tests of crystallised
intelligence (and many school exams) is acquired mainly via language, whether
from parents, peers or teachers, or from books or the internet. Impaired language,
and especially impaired language comprehension, will reduce a child’s ability to
acquire this kind of knowledge. In addition, vocabulary and the ability to explain
word meanings is directly assessed in tests of crystallised intelligence, and any form
of language impairment that affects vocabulary acquisition will lower scores on
these tests.
Socio-cultural deprivation Socio-cultural deprivation involving lack of environ-
mental stimulation can contribute to learning disability. However, deprivation

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 Additional Shared Characteristics and Major Specifiers

originating in the child’s home circumstances is not often a factor in the case of
autism — at least in countries where ASD is recognised and support services are
available. On the other hand, the autistic child’s avoidance of social interaction
and communication, their dislike of novelty or change, effectively reduces the
range of their experiences and learning opportunities, as noted in the previous
chapter. This kind of self-originating deprivation would tend to impact on crystal-
lised intelligence.
Impaired semantic memory/learning ability As noted in the previous chapter,
neuropsychologists have identified five memory systems that enable people to
learn (see Box 9.3). These are the perceptual, procedural, semantic, and episodic
memory systems, and the immediate memory component of working memory. As
also noted previously, people with ASD across the spectrum have uneven memory
abilities. In particular, episodic memory is always impaired (Bowler et al., 2011),
impacting on autobiographical memory in particular. In lower-functioning indi-
viduals with ASD, semantic memory is also almost certainly impaired. Impaired
semantic memory would directly reduce the ability to acquire a store of factual
knowledge. It would also reduce the ability to acquire a mental dictionary of word
meanings, and the resulting language impairment would further impact on the
ability to acquire the kinds of information essential for academic success and for
scoring well on tests of crystallised intelligence.
Unfortunately, there have been few recent studies of semantic memory in
lower-functioning autism, almost all recent work on memory in ASD having
been carried out with high-functioning groups. The results of tests of semantic
memory in lower-functioning ASD, as summarised in Boucher et al. (2012),
are suggestive of impairment. However, more research is needed to confirm or
disconfirm the ‘semantic memory impairment’ explanation of learning disability
when it co-occurs with autism.
Subaverage fluid intelligence Because general reasoning ability, possibly associ-
ated with speed of processing, is involved in most kinds of learning, subaverage
fluid intelligence, if present, will invariably constitute a contributory cause of gen-
eralised learning disability, whether in people with ASD or in individuals with
learning disability without autism. In learning disabled people with ASD, fluid
intelligence, as assessed by tests of nonverbal IQ, is generally below average —
sometimes significantly so. This undoubtedly helps to explain their learning dis-
ability. However, subaverage fluid intelligence cannot by itself explain the VQ <
NVQ discrepancy, which is more readily explained by one or more of the other
factors considered above.

Language Impairment

What has to be explained

Key points from the description in Chapter 4 of language abilities across the
spectrum are summarised in Table 10.1. In this table, four subgroups are profiled
under the headings high-functioning language-normal (HF-LN), high-functioning
language impaired (HF-LI), lower-functioning language impaired (LF-LI) and

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What Causes Autism?

Table 10.1 Linguistic anomalies and impairments across the spectrum

HF-LN Somewhat delayed language onset and slowed development in some but not all
individuals.
Idiosyncratic usage of words or phrases.
Narrow or literal‘understanding of word/phrase meaning.
Reduced use of ‘mental state’ words.
Early difficulties with deictic terms.
Subtle differences in the content and organization of the conceptual networks underlying
linguistic meaning.
Tendency to formulaicity, i.e. repetitive use of certain phrases or expressions.
Despite these minor abnormalities, language and speech are — clinically speaking —
‘normal:
HF-LI Minor anomalies as for HF-LN, +
Clinically significant phonological/articulatory impairments.
LF-LI Significantly delayed language onset and slowed development, plateauing at ‘clinically
impaired’ level.
Moderate to severe impairment of word/phrase meaning.
Mild to moderate (MA-appropriate) impairments of grammar and of phonology/
articulation.
Apparent superiority of expressive language as compared to comprehension, resulting
from the tendency to reproduce echoed or rote-learned chunks of language verbatim.
Persistent problems with mental state terms and deixis.
LF-NV* Very limited comprehension of spoken language.
Some habitual phrases, acquired via echolalia, may be used, sometimes meaninglessly,
sometimes with idiosyncratic meaning, rarely with conventional meaning.

*Excluding cases of mutism

lower-functioning non-verbal (LF-NV). Subgrouping in this way obscures the fact

that in reality language abilities form a continuum across the spectrum. However,
it facilitates consideration of the set of causes that may be contributing to varia-
tions in language profiles.
In the following sections, the underlying causes of linguistic anomalies and
impairments summarised in Table 10.1 are considered. However, the effects on
language and speech of comorbidities such as hearing loss, epilepsy, cerebral palsy,
cleft palate or other medical conditions are not considered here, although clearly
they are of critical importance when considering the intervention and support
needs of individuals.
Explaining linguistic anomalies common to all individuals with ASD
Those linguistic anomalies that are shared by all individuals on the autism spec-
trum, including individuals in the HF-LN group, must be caused by factors that
are associated with autism itself These shared factors include the impaired dyadic
interaction and impaired mindreading ability underlying SEC impairments, and

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 Additional Shared Characteristics and Major Specifiers

the sensory-perceptual anomalies associated with RRBs. One further factor may be
involved, though its involvement is not widely recognised. This is the impairment
of episodic memory (referred to in the section on learning disability, above). Each
of these causal factors, and their likely effects on language, is considered below.
Impaired dyadic interaction This would effectively deprive infants and toddlers
of much of the raw material of spoken language acquisition, from the earliest
protoconversations in which babies and carers exchange vocalisations, to carers’,
siblings’ and others’ ongoing use of language. More specifically, it has been shown
that infants with incipient autism are less likely than typically developing infants
to look at the mouth of someone who is speaking, and that reduced looking pre-
dicts future language impairment (Young et al., 2009). These anomalies of one-
to-one interaction would tend to delay language onset and slow the acquisition of
both receptive and expressive language.
Defective mindreading In arguing for the role of defective mindreading as a cause
of impaired language in autism, Bloom (2000: 55) noted:

Learning a word is a social act. When children learn that ... ‘rabbit’ refers to rabbits, they are
learning an arbitrary convention shared by a community of speakers, an implicitly agreed-
upon way of communicating. When children learn the meaning of a word, they are — whether
they know it or not — learning something about the thoughts of other people.

Early word learning is normally based in part on the apprehension of social cues
such as the speaker’s direction of gaze. Young children with ASD are less likely
than other children to utilise such cues (Baron-Cohen et al., 1997; Parish-Morris
et al., 2007), leading to a bias towards the acquisition of unshared, idiosyncratic
word meanings. Consistent with this, joint attention impairments in children with
ASD have been shown to be associated with language delay, and predict later
language competence generally (e.g. Siller & Sigman, 2008).
Impaired mindreading can also explain the problems that young or less able
individuals have in understanding and using person-centred (deictic) terms, such
as ‘you’/‘me’, ‘here’/‘there’, ‘now’/‘then’ (Hobson et al., 2010). Diminished use of
mental state words such as ‘think’ or ‘know’ (Tager-Flusberg, 2000), and impaired
comprehension of words referring to emotions (Hobson et al., 1989), may also be
explained by defective mindreading.
Finally, impaired mindreading helps to explain why language comprehension
has consistently been shown to be more affected than expression, in that indi-
viduals with ASD fail to take account of other people’s knowledge, thoughts and
feelings in interpreting others’ speech (Surian et al., 1996). However, the apparent
superiority of expressive as opposed to receptive language ability also owes some-
thing to spared, or relatively spared, immediate memory and rote learning.
Sensory-perceptual anomalies Anomalies of the kinds described in Chapter 4,
and discussed in the section on RRBs in the previous chapter, would have certain
predictable effects on language acquisition and processing across the spectrum.
In particular, anomalous speech perception may contribute to delayed language

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onset (Eigsti & Fein, 2013). It could also underlie the abnormalities of pre-speech
vocalisation detected in most children with ASD (Oller et al., 2010), and the
many minor anomalies of speech-sound production noted in a study of HF-LN
adults (Shriberg et al., 2001).
Abnormalities of sensory-perceptual processing conceptualised in terms of
weak central coherence (Happé & Frith, 2006) or enhanced perceptual processing
(Mottron et al., 2006) would predispose towards encoding the acoustic charac-
teristics of heard speech in place of meaning, as demonstrated in early studies
by Hermelin and O’Connor (1970) and more recently by Jarvinen-Pasley et al.
(2008). This, combined with good immediate memory and rote learning, may
help to explain the formulaicity so heavily relied on in expressive language, even
by individuals with clinically normal language (Perkins et al., 2006). Rote memo-
risation of phrases or sentences will also contribute to the ‘little professor’ effect
noted by Asperger.
If, as suggested in the most recent theories concerning abnormal sensory-
perceptual processing in ASD, generalisation and the formation of categories
and concepts (‘priors’) are impaired, semantic knowledge would be corre-
spondingly affected (see references to the work of Plaisted and colleagues, also
Pellicano and colleagues, in the previous chapter).
Working memory impairment There is some evidence to suggest that the com-
ponent of working memory (WM) known as the phonological loop functions
somewhat less efficiently than in typically developing individuals (Schuh & Eigsti,
2012). This may well be a knock-on effect of the sensory-perceptual anomalies
considered above, and would have similar repercussions for language.
Impaired episodic memory All individuals with ASD, including the most able,
have impaired episodic memory, as noted in the section on learning disability
above. Episodic memory, aka relational memory, underlies the ability to spon-
taneously recall contextual detail relating to personally experienced events.
Contextual information could include where and when the event occurred, who
one was with, how one felt at the time, what the weather was like, what hap-
pened just before or just after the event, and so on. Episodic/relational memory
impairment would reduce the range of information on which word meanings are
based. High-functioning children with ASD are likely to compensate by using
their preserved memory abilities for facts, associations and rote learned sequences
(Tyson et al., 2014). For example, to most typically developing 6;0 -7;0 year
olds, ‘party’ has a rich set of connotations, gleaned from the varied experiences
of many different parties. For the young HF-LN child with autism, the meaning
of ‘party’ is, at best, likely to be made up of a set of facts, such as ‘there is cake’,
‘there are a lot of people’, ‘it is noisy’. It follows that although a large vocabulary
may be acquired using semantic (fact) memory, word meanings will be relatively
narrow and idiosyncratic.

Explaining language impairments in the HF-LI group

Possible causes of the phonological/articulatory impairments that have been noted
in about 10 per cent of high-functioning individuals have not been investigated.

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 Additional Shared Characteristics and Major Specifiers

As noted in Chapter 4 (Box 4.2), this kind of linguistic impairment can result
from impaired knowledge of the phonology of spoken language, which can in turn
result from abnormal speech perception, or even inattention to others’ speech,
as has been suggested by Cleland et al. (2010). Clinically significant phonologi-
cal impairments commonly occur in children with specific language impairment
(SLD), and it is also plausible to suggest that a subset of people with ASD, including
those in the HF-LI group, have comorbid SLI (see below). Strictly ‘articulatory’ as
opposed to ‘phonological’ impairments, on the other hand, would most probably
result from verbal dyspraxia, a motor disorder (Donnellan et al., 2015). Systematic
investigation of the potential explanations of LI when it occurs in high-functioning
individuals is needed.
Explaining language impairments in the LF-LI group
The autism-specific profile of language impairments in the LF-LI group (summarised
in Table 10.1, above) is partly caused by those factors that underlie subtle anomalies
in the language acquired by people in the HF-LN group, as detailed above.
However, to explain the differences in language attainment between most
high-functioning individuals with ASD as compared to all lower-functioning indi-
viduals, some other causal factor — or factors — must be involved. The most obvious
of these additional factors is subaverage fluid intelligence, and this is considered
first, below. However, it has also been suggested that comorbid SLI may be a
major factor, and this possibility is also discussed. Finally, the role of a pervasive
impairment of declarative memory affecting semantic as well as episodic memory
is discussed.
Subaverage fluid intelligence Fluid intelligence, defined in terms of general rea-
soning ability and/or speed of processing underpins most kinds of human learn-
ing and behaviour. Unsuprisingly, therefore, subaverage fluid intelligence has been
shown to correlate with delayed and limited language acquisition in middle- and
lower-functioning people with ASD (Stevens et al., 2000). This kind of general-
ised learning difficulty cannot, however, easily explain the autism-specific profile
of language impairment in which some facets of language are more impaired than
others. Some other factor or factors must be involved, as considered next.
Comorbid SLI In the early days of autism research it was suggested that the
language impairments associated with autism were caused by comorbid ‘devel-
opmental dysphasia’ (Rutter et al., 1971; Churchill, 1972), now referred to as spe-
cific language impairment or SLI. SLI is defined as persistent language impairment
in the absence of other known disorders. It is an umbrella term, covering early
manifesting impairments in any aspect of language comprehension or expression,
whether to do with the spoken language sound system (phonology and phonotac-
tics), linguistic meaning (lexical semantics), grammar (syntax and morphosyntax)
or the use of language in communication (pragmatics). Most commonly, however,
expression is more affected than comprehension; and phonology and syntax are
more affected than semantics or pragmatics (Leonard, 2000; Loucas et al., 2008).
The early hypothesis that language impairment in autism results from comorbid SLI
was tested by Bartak and colleagues (1975, 1977) and found to be unsubstantiated.

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What Causes Autism?

However, a small group of children with ‘mixed autism-SLI’ was identified. When lan-
guage impairment (as opposed to communication) was no longer seen as an essential
accompaniment to autism, interest in the ‘comorbid SLI’ theory declined.
However, in 2001, Kjelgaard and Tager-Flusberg revived the hypothesis. There
was at that time considerable interest in certain genes thoughtto be risk factors
for both ASD and SLI, and also in certain similarities in the brain regions affected.
Kjelgaard and Tager-Flusberg argued that the profiles of language impairment in
ASD and SLI were also similar. None of these claims has been clearly supported in
subsequent research (see reviews by Williams et al., 2008; Bishop, 2010; Luyster
et al., 2011). All these reviews conclude that although there is some evidence of
links between the two conditions genetically, neurobiologically and in terms of
clinical profiles, differences outweigh similarities.
In particular, the most common profile of impairments in SLI differs in key
respects from the ‘autism-specific language profile’ that emerges from large-scale
studies of older children and adults with LF-LI. Indeed, the relative rarity in these
groups of phonological and syntactic impairments (other than those commensu-
rate with mental age) argues strongly against comorbid SLI as a major contributor
to language impairments in ASD. The superiority of syntactic processing in
LF-LI groups compared with groups with SLI (Botting & Conti-Ramsden, 2003;
Shulman & Guberman, 2007; Riches et al., 2010) strengthens this conclusion.
These arguments do not, however, preclude comorbid SLI as a contributory cause
in a minority of cases — perhaps between 10 and 20 per cent of available evidence
(Bartak et al., 1975; Rapin et al., 2009; Cleland et al., 2010). On the assumption
that this percentage is stable across the spectrum, the effects of comorbid SLI
should be most apparent in high-functioning individuals, and could explain pho-
nological impairment in the HF-LI group. Within the LF-LI group, comorbid SLI
would constitute one of numerous minor factors contributing to heterogeneity
within this group.
Pervasive impairment of declarative memory I and my research colleagues have
hypothesised that impaired semantic memory, additional to the impairment of
episodic memory that occurs across the spectrum, not only contributes signifi-
cantly to learning disability when it occurs in people with ASD, as argued above,
but also to language impairment in this group (Boucher et al., 2008, 2012; Bigham
et al., 2010).
This hypothesis is based on a model of normal language acquisition proposed
by Ullman (2001, 2004) in which phonology and syntax are relatively effort-
lessly acquired by young typically developing children using procedural memory;
whereas linguistic meaning is acquired at a more conscious — ‘declarative’ — level,
using the episodic and — most importantly — semantic memory systems (for defi-
nitions of the different memory systems, see Box 9.3). Utilising Ullman’s model,
we have hypothesised that individuals in the LF-LI group have a pervasive impair-
ment of declarative memory affecting their ability to acquire word meanings,
as well as affecting their ability to acquire factual knowledge (and hence crys-
tallised intelligence, as argued in the preceding section). In the absence of fully
functioning declarative memory/learning systems, lower-functioning children with

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 Additional Shared Characteristics and Major Specifiers

ASD would compensate by using their intact procedural memory to acquire

mental-age-appropriate phonology and grammar, and their intact rote learning abil-
ities to acquire at least some words and phrases. Unusual reliance on rote memory
is consistent with echolalic speech, contributing to the observation that expressive
language in people with LF-LI is superior to comprehension. Unusual reliance on
associative learning, such that A triggers a memory of B, C triggers a memory of D,
is consistent with the observation that words or phrases used by people with LF-LI
are often triggered by some specific situation or cue. Fay and Schuler (1980) mem-
orably described these first associations as being ‘tenaciously stored and recycled as
if they were cast in concrete’. They also noted that new words or phrases acquired
by single-trial associative learning have one specific referent, comparable to the
limited meaning of proper names (such as ‘Emily Smith’, ‘Everest’ or ‘Berlin’). By
contrast, words and phrases acquired over time by hearing them used in numerous
and varied contexts have broad and generalisable referents.
Explaining lack of language in the LF-NV group
Despite the fact that even very low-functioning people with ASD have some islets
of ability and may achieve some degree of independence in everyday living, lan-
guage (whether spoken or signed) seems to be beyond their capacity to acquire.
This inability extends to language comprehension as much as linguistic expres-
sion, except in rare cases of pervasive mutism. Pervasive mutism is most likely
caused by verbal apraxia, involving difficulty in co-ordinating the movements
involved in speech (Rapin, 1996), or possibly psychic akinesia, in which there is
a difficulty in the voluntary initiation of actions, rather than in carrying them out
(Donnellan et al., 2015). The much more common near-complete inability either
to understand or to use language seems likely to result from a combination of
severe impairments of mindreading, fluid intelligence and the kinds of learning
subserved by declarative memory systems. However, none of the above suggested
that causes of lack of language in autism is proven.

SUMMARY
There are a number of potential explanations of the uneven patterns of spared and
impaired creativity and imagination in ASD — patterns that may differ across the
spectrum. Factors that might contribute to impaired creativity and imagination
include a memory retrieval impairment, an anomalous sense of self, a problem in
assembling and integrating the components of a plan, or a difficulty in the spon-
taneous initiation of novel actions or activities. The message here is that more
research is needed, such as might unlock the creative capacities of more individu-
als for whom repetition is the default behaviour.
Regarding islets of ability, it was stated in Chapter 3 that ‘fine cuts’ are the-
oretically important because they are informative about the causes of specific
impairments in autism: if skill A is impaired but closely related skill B is unim-
paired, this narrows down possibilities concerning the cause of the impairment of

181
What Causes Autism?

skill A. In the case of spared, or relatively spared, attachment in children who are
by definition socially impaired, it can be inferred that the defining social impair-
ments do not result from a lack of genetically determined attachment drives and
behaviours. In the case of spared protoimperative or ‘demand’ pointing as com-
pared to protodeclarative ‘sharing’ gestures, the key difference concerns whether
or not mentalising is involved.
It is argued here that other things that people with ASD do well — sometimes
astonishingly well by any standard, sometimes just better than their overall
levels of ability might predict — result from exceptionally well-developed com-
pensatory use of spared abilities. This is analogous to the ways in which people
with physical disabilities compensate, developing skills that other people can’t
begin to emulate, such as painting with feet (in the absence of hands), or oper-
ating a computer using a device mounted on the head (in cases of quadriplegia).
Because less able people with ASD have reduced ability to extract meaning
from sensory inputs, together with problems of memory and learning and also
difficulties in initiating novel activities, they engage faute de mieux in repetitive
‘practice’ of tasks and activities in which they can achieve. This, it is suggested by
various authors who have studied savant abilities in ASD, enables such individ-
uals to develop to an exceptional degree those sensory-perceptual and learning
capacities that are available to them.
Diverse factors contribute to uneven motor abilities in autism. Some of these
factors, such as hypotonia and joint laxity, are physical and relative easy to assess
and to understand, although difficult to treat. Others are more subtle, involving
the planning, execution and control of voluntary movements. Strikingly spared
abilities may be those that have been acquired unconsciously via the procedural
memory system, and which can be executed automatically, with little if any con-
scious control.
Impaired sense of self in people with ASD can almost certainly be explained by
the difficulties they have in two major neuropsychological systems: mentalising
and episodic memory. Impaired mentalising affects the ability to represent in one’s
own mind one’s own emotional experiences and psychological characteristics and
dispositions. It also affects the ability to appreciate other people’s thoughts, feel-
ings, knowledge, etc. as they may relate to one’s self — a failure to see oneself as
others may see us. Impaired episodic — ‘relational’ - memory causes a narrowing of
autobiographical knowledge which, by default, consists mainly of factual knowl-
edge in people with ASD.
The causes of learning disability when this occurs in people with ASD include
below-average fluid (nonverbal) intelligence and also some degree of what is
termed here ‘self-originating socio-cultural deprivation’. However, neither of
these two contributory factors can explain the VQ < NVQ discrepancy that char-
acterises the performance of most lower-functioning individuals with ASD on
intelligence tests. It is argued here that this discrepancy is more readily explained
by a combination of impaired semantic memory and, inextricably related to this,
impaired language (see below). Impaired semantic memory would impact on
the acquisition and retention of factual information such as is assessed in some

182
 Additional Shared Characteristics and Major Specifiers

VQ-subtests (and many school tests and exams). Impaired language would reduce
scores on tests of crystallised intelligence partly because language is the medium
through which most factual information is acquired, and partly because some VQ
subtests probe the individual’s knowledge of language directly.
The causes of language impairment (as opposed to communication impairment)
in autism have been under-researched since the diagnostic criteria for autism
changed in the late 1980s to include people with normal intelligence and clinically
acceptable language. Before that time, it was thought that language impairment was
an essential, perhaps critical, facet of autism, and in the early 1970s some influen-
tial clinician-researchers hypothesised that autism itself results from an extremely
severe form of SLI. It now seems likely that comorbid SLI occurs only in a minor-
ity of individuals with ASD — perhaps between 10 and 20 per cent. Comorbid
SLI may therefore explain the phonological/articulatory impairments observed in
a subset of high-functioning individuals. It may also help to explain some of the
heterogeneity in language profiles in lower-functioning groups. However, it cannot
explain the pervasive impairment of language in lower-functioning ASD.
Below-average fluid (nonverbal) intelligence and some degree of ‘self-originating
socio-cultural deprivation’ would contribute to delays and limitations in the acqui-
sition of language. However, neither of these contributory factors has the power to
explain the profile of language impairment that most commonly occurs in people
with lower-functioning ASD, nor the tight linkage between learning disability and
language impairment in this group. It is argued here that these can be explained by
a pervasive impairment of declarative memory, affecting the semantic as well as the
episodic memory system. This hypothesis is currently being investigated.

183
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 PART III

PRACTICAL ISSUES
 ty 4 a oY
Sn
weae :
ASSESSMENT, DIAGNOSIS
AND SCREENING

ASSESSMENT

DIAGNOSIS
Why Diagnose?
The Diagnostic Pathway
Methods for Diagnosing ASD

SCREENING
Why Screen?
Methods of Screening for ASD

SUMMARY
Practical Issues

AIMS
The aims of this chapter are: (1) to clarify the different but overlapping functions of
assessment, diagnosis and screening; (2) to consider some of the pros and cons
of diagnosis before outlining processes involved and methods that may be used to
diagnose ASD; and (3) to provide basic information concerning different functions
and methods of screening for ASD.

ASSESSMENT
Assessments in the field of autism are carried out for a variety of different pur-
poses. The most obvious of these is to make a diagnosis. There are, in addition,
many assessment procedures designed to estimate the probability that an indi-
vidual has ASD, but which fall short of yielding a reliable diagnosis. These are
generally referred to as screening tests. In addition to diagnosis and screening,
assessment may be carried out for numerous other purposes: for example, to help
determine educational placement or progress, to monitor response to an exclusion
diet, or to make a case for awarding disability allowance.
Diagnostic assessments are designed to determine whether or not an individ-
ual belongs to a particular diagnostic group, in this case the group of individuals
with autism spectrum disorder as defined in DSM-5. Screening assessments are
designed to identify those who may be at significant risk for a particular dis-
ease or disorder, either warranting immediate diagnostic assessment or future
monitoring. Assessments relating to intervention, education and care are, by
contrast, designed to evaluate the abilities, problems, needs, etc. of individuals.
The contrasting aims of assigning individuals to groups as opposed to focusing
on individuals echo the contrast made earlier in the book between the gener-
alised descriptions of autism-related behaviours in the diagnostic manuals and
the particular or manifest behaviour of different individuals at different life
stages and in different contexts. Assessments for diagnosis or screening gather
information relevant to generalised descriptions of autistic behaviour, whereas
assessments for intervention, etc. gather detailed and particular information
about individuals. There should be no conflict or sense of competition between
the two types of assessment: they serve different functions, both of which are
important.
However, this chapter focuses exclusively on diagnosis and screening. Assessments
used in specialist fields of intervention, education and care are too numerous and
varied for even summary coverage to be attempted here. Information on the
assessments used in specialist fields can be found in the relevant literature: for
example, concerning neurological assessment, speech and language assessment,
assessments of educational progress, employment potential, or the assessment of
capacities for independent living.

188
 Assessment, Diagnosis and Screening

DIAGNOSIS
Why Diagnose?
Diagnosis is a tool, not an end in itself. It has a number of uses, the most important
of which are indicated below.
Uses of diagnosis
To help people with ASD themselves and their families The main purpose of diag-
nosis is to achieve useful ends for people with ASD themselves, their families and
other carers. So, for example, in the case of a young child, a diagnosis of an ASD
can do all of the following: |

e Give parents a lever with which to obtain appropriate education or other intervention for
their child.
e Help parents to make sense of their child’s problems (‘So that’s why she never looks at me’;
‘That's why he has a tantrum if | try to get him to wear new shoes’).
e Guide parents’ hopes and expectations for their child.
e Help parents and others to share their problems and learn from others (by joining a parents’
group, reading, attending conferences, workshops or discussion groups).
e Protect parents from negative reactions from others (‘Some people with autism have a very
sensitive sense of smell — I’m afraid she doesn't like your perfume’ ‘He doesn’t mean to be
rude — he’s autistic and doesn't like being touched’).

Similarly, a diagnosis of an older child or adult can help to explain why an indi-
vidual is different from most others in certain ways, alleviating the frustration and
distress resulting from misunderstanding or misinterpreting the individual’s behav-
iour. For example, it may be frustrating and upsetting to parents that their teenage
son does not want to go out with friends in the evenings and is bullied and labelled
a swot by his peers, until they know why their son prefers to be alone and to study
his special interest subjects. A husband’s undemonstrative behaviour and lack of
emotional warmth may be misinterpreted as lack of love and commitment, until
the reason for it is understood. Diagnosis of an able teenager or adult can also ena-
ble them to understand themselves better and to feel more comfortable with ‘who
they are’. Finally, a formal diagnosis may be necessary to access practical assistance
such as a place in a specialised educational unit, respite care, financial support, or
assistance in obtaining supported accommodation.
To facilitate communication between practitioners Diagnosis is also useful as an
aid to communication among practitioners and professionals. For example, a fam-
ily doctor writing a referral for a child for a hearing test may write ‘Joe has mild
autism’ in place of a more detailed description of Joe’s autism-related behaviours
that may be relevant to the audiologist’s administration and interpretation of data
from the hearing test. Similarly, mention of a diagnosis of ‘ASD’ on documents
preceding a child’s enrollment at a new school instantly conveys important pre-
liminary information to teaching staff. Use of a diagnostic label for communication

189
Practical Issues

between practitioners is, of course, only as good as their shared understanding of

the terms used (Preece & Jordan, 2007). It also conveys a limited amount of infor-
mation, not specific to the individual, which may be enough for some purposes
but not for others.
To provide information needed for the provisionand financing ofservices Statisticians,
policy makers and administrators concerned with the provision and financing of
health, educational and social services need information concerning the incidence
and prevalence of ASD based on authoritative diagnoses. If diagnoses are not made,
then provision will not be made. Of course, even when good diagnostic services are
available and operating well, it may not ensure that the best possible provision will
be made because there are always limiting factors. At least, however, the informa-
tion is there on which to base claims. The anecdotes recounted in Box 11.1 illus-
trate how critical a diagnosis is for the allocation of scarce resources at local level.

Box 11.1 Tales of two cities: The use and

abuse of diagnostic labels for obtaining
appropriate educational provision
In CityA there was for a time a strong lobby among educationalists against diag-
nosing children, on the grounds that ‘labelling’ was stigmatising, and that it would
lower teachers’ expectations of children or create prejudice against them. These
are reasoned arguments based on legitimate fears. However, the net effect of not
using the ‘label’ was that children with ASD were described instead as having
‘communication difficulties’ (and sent to special units for language-impaired chil-
dren) or as having emotional or social difficulties (and sent to schools for children
with emotional and behaviour problems) or as simply learning-disabled (and sent
to schools for ‘slow learners’). No special educational provision for children with
autism was made until, eventually, parent pressure and government legislation
forced the city’s Local Education Authority to recognise that there is a group of
children for whom a diagnosis of ASD signals a very particular set of educational
needs that should be provided for.
City B, by contrast, had long recognised that an autism-related diagnosis pro-
vides an indicator of a child’s special needs, and excellent educational provision
was made for children on the autism spectrum from infancy to post-16. In this city,
however, somewhat less good provision was made for children with certain other
kinds of special educational needs. As a result there was pressure from some par-
ents of children who were not autistic but who had some social, emotional, com-
municative or learning difficulty, for their child to be diagnosed as autistic. These
parents hoped that the ASD’ label might qualify their child for the special teaching
and support available to children with autism — even if not entirely appropriate for
their own child.

To ensure comparability between participants assessed in different research studies

Suppose that for the purposes of increasing group size, two research centres want
to combine their results of fMRI investigations of brain activity in adults with ASD.

190
 Assessment, Diagnosis and Screening

This will potentially strengthen findings only if the groups studied in each research
centre are similar in terms of their detailed diagnostic profiles as well as being
similar in age, gender distribution and other possibly relevant factors. If the two
centres have recruited participants whose diagnostic profiles differ — perhaps in
severity levels or the presence/absence of significant specifiers — combining data
will make significant findings less rather than more likely to emerge.
To take a more extreme example, suppose that two studies of a particular
method of preparing young learning disabled adults for job interviews produce
radically different results, Study A showing the method to be very useful, Study
B suggesting that it makes no difference to interviewees’ success. A likely expla-
nation of the discrepant results is that participants in the two studies differed
in terms of their diagnosis, Study A assessing individuals with learning disability
without ASD, and Study B assessing learning disabled individuals who were also
autistic. To ensure comparability, diagnosis of ASD would have been necessary.
Given that one of the aims of scientific research is to build up a body of findings
replicating an effect across many comparable studies, failure to ensure that groups
taking part in autism research have been diagnosed according to agreed criteria
undermines the usefulness of research.

Arguments against diagnosis

Despite the many uses of diagnosis, there are some arguments against diagnosing,
as well as occasional misuses or abuses, as considered below.
Adverse effects for individuals and families In Box 11.1 it was mentioned that
a diagnosis can have stigmatising effects that might include lowering teachers’
expectations of particular children or creating prejudice against them. Stigmatising
effects are in fact more likely to be experienced in the wider world where knowl-
edge and understanding are more limited than in most schools. The words ‘autism’
or ‘autistic’ conjure up for many people ideas of incomprehensible difference that
they find personally threatening, and they may react accordingly. So a child with
an ASD diagnosis may be omitted from the class-wide invitation to a birthday
party; a family that is open about their child’s autism may be refused a booking
for an activities holiday; an adult with ‘autism’ on their CV may not be considered
for a job interview, however strongly recommended as suitable.
The extent and severity of the stigmatising effects of what is sometimes pejo-
ratively called ‘labelling’ are related to the degree of ignorance that exists and the
scope for stereotyping that ignorance provides. One of the arguments for edu-
cational inclusion! is to help to reduce ignorance within the general population
(see Chapter 13). National and local autistic societies also work hard to dispel
the ignorance, prejudice and stereotyping that underlie stigma. In this they are
sometimes helped, but sometimes hindered, by the media. Most importantly, indi-
viduals themselves and families face down stigma by speaking openly about their
experiences, writing about them and, above all, being able to laugh about them.
Martin Ives and Nell Munro, who are parents of a child with ASD, write:

'Words or phrases in bold type on first occurrence can be found in the Glossary

191
Practical Issues

Sooner or later most parents reach a point where they feel less sensitive about what other
people might think or say. It is this tougher skin combined with a liberal sense of humour that
sees most parents through. (Ives & Munro, 2002: 70)

Ironically, use of diagnostic labels is essential for dispelling ignorance and stigma: it is
not possible to demystify autism and take the fright out of it without using the term.
In addition, not using diagnostic labels does not make people’s perceived differences
go away, nor does it prevent other people from reacting negatively. Claire Sainsbury,
who has a diagnosis of Asperger syndrome using DSM-IV criteria, writes:

When | didn’t have an official diagnostic label my teachers unofficially labelled me as ‘emo-
tionally disturbed; ‘rude’ and so on, and my classmates unofficially labelled me ‘nerd, ‘weirdo’
and ‘freak’; frankly | prefer the official label. It’s the stigma attached to being different that’s the
problem, not the label. (Sainsbury, 2000: 31, quoted in Ives & Munro, 2002)

Fortunately, the truth of Claire Sainsbury’s last statement is more widely recog-
nised now than it was some years ago when arguments against diagnostic ‘labelling’
were being strongly aired. Unfortunately, however, prejudice and stigma remain.
Overuse or misuse of diagnosis In the section in Chapter 5 dealing with the
apparent rise in the prevalence of ASD it was noted that this might be explained
by a loosening of the diagnostic criteria, or a loosening of the interpretation of
these criteria, to include individuals on the borderline between ‘normality’ and
‘non-normality’. Whether or not this greater inclusiveness of individuals at the
‘top’ end of the spectrum constitutes overuse/misuse depends on whether or not
the diagnosis is beneficial to the individual and those close to him or her. Baron-
Cohen and colleagues (2001) noted that many individuals who score highly on
their widely used screening test, the Autism-Spectrum Quotient (see below), do
not warrant a diagnosis because their autistic traits and tendencies, even if marked,
are causing them no significant distress or difficulty — at least at the present time.
Of course this situation may change, as in the individual mentioned in Chapter 2,
who had lived at ease with his autistic traits until the threatened break-up of his
second marriage brought him to the attention of a psychiatrist at the age of 60.
An example of the outright abuse of diagnosis can be found in the story of City B
in Box 11.1, where parents may sometimes have persuaded clinicians to describe
their language-impaired, emotionally disturbed or intellectually disabled child as
being on the autism spectrum to obtain specialist education for their child within
the excellent autism teaching units in that city.
In sum, some objections to diagnosis can be made, and occasionally diagnosis is
overused or misused. However, the legitimate and important uses of diagnosis far
outweigh any arguments against so-called ‘labelling’.

The Diagnostic Pathway

The currently recommended diagnostic pathway for individuals with suspected

autism in the UK can be found on the website of the National Institute for Clinical
Excellence (NICE). Unfortunately, what happens in reality is often rather different,

192
 Assessment, Diagnosis and Screening

Ongoing process at
each well-child visit

Surveillance
Concerns
or red |
_ flags identified Referral to early
intervention services, *
speech-language
pathologist or both

Stage 1:initial developmental assessment ee

_ e By physician or other community-based care. provider fe
_ ¢ Review health records, observe child in community setting, |
perform developmental and/or ASD screening questionnaires

eS ee No Monitor and advocate for focused

Consistent with : 5 4
early intervention or educational
ASD? ‘
services as needed

Yes ‘
Possible familial -
Refer to geneticist
or syndromic basis

Stage 2: diagnostic assessment

_ @ By experienced pediatrician, developmental pediatrician,
child psychiatrist or psychologist eee team or —
lead clinician with consultation)
e Integration of all prior information
¢ Detailed diagnostic history, systematic interactive
assessment based on DSM criteria (may include ADOS) —
¢ Evaluation of medical and mental health comorbidities;
consider referral for specialized assessments
e Clinical microarray, fragile X syndrome testing and other
investigations (if findings are positive, refer to geneticist)
e Referral as needed to evaluate language, cognitive and
adaptive development at various times in child's life;
referral should not delay diagnosis

ASD diagnosis confirmed?

Yes No or uncertain

e Refer for specialized interventions, e Provide support and treatment for

family support, counselling other diagnoses identified
e Strongly consider referral to specialized
diagnostic team
e Strongly consider reassessment in 1—2 yr
if the patient’s status is uncertain

Figure 11.1. A recommended diagnostic pathway (from Anagnostou et al.,

2014)

ncconiae to surveys of parents’ and adult autistics’ experiences of diagnosis in the

UK (Jones et al., 2014; Crane et al., 2015; but see also Braiden et al., 2010).
In a concise but highly informative review of ‘evidence-based practice’ writ-
ten for Health Care professionals working in Canada, Anagnostou et al. (2014)
193
Practical Issues

include the figure reproduced here as Figure 11.1, concerning a recommended

diagnostic pathway.
The route to obtaining a diagnosis for a young child in the US is less idealised,
and advice from the National Society for Autism stresses the responsibilities of
parents in initiating, organising and co-ordinating appropriate assessment and
provision. Unsuprisingly, socio-economic status (SES) is strongly related to the
age of diagnosis in the US (Mandell et al., 2010; Fountain et al., 2011). Regional
variations in age of diagnosis have also been reported to occur in Canada
(Frenette et al., 2013) and Australia (Bent et al., 2015), reflecting the availability
of expert services. For discussions of national and regional differences in diag-
nostic practice, see Freeth et al. (2014). In what follows, routes to diagnosis are
discussed in general terms relating to when diagnosis is desirable, and by whom
and where, with separate consideration of young children as compared to older
children and adults.
When should a diagnosis be made?
Young children In view of the potential usefulness of a diagnosis for the parents
of a young child with ASD (see above), it might be assumed that the obvious
answer to the question ‘When should a diagnosis be made?’ is ‘As soon as pos-
sible’ (Braiden et al., 2010). In clear-cut cases this is unarguably the appropriate
answer, most available evidence suggesting that early diagnosis and intensive forms
of intervention can reduce the severity of ASD-related behaviours and improve
prognosis in at least some cases (see Chapter 12).
There are dangers, however, in assuming that early diagnosis is invariably
best for the child and the family. Some research suggests that a proportion of
children who appear to warrant a diagnosis of ASD at two years old no longer
warrant the diagnosis at age four years (Sutera et al., 2007). This is consist-
ent with large-scale surveys that show the diagnosis of very young children
with social and communication delays is not 100 per cent accurate, given the
methods currently available. The diagnosis of ASD in their child, even if it
comes as some kind of relief from doubt and frustration, is always painful and
sometimes traumatic for parents, requiring many adjustments of relationships
and expectations within the family. If the diagnosis is overturned a year or
two later, the family’s anxieties and attempts at adjustment may have been
needless. Safer answers to the question ‘When?’ in the case of young children
might therefore be ‘As early as it can be done with reasonable certainty’, or ‘As
soon as the benefits of diagnosis for the child and family outweigh any adverse
effects of possible misdiagnosis’.
In practice, each clinician or clinical team has to make a judgement on each
individual case. A strategy recommended by a government-led working party in
the UK is to proceed towards diagnosis in stages, with the initial stage focusing on
the child’s and the family’s immediate needs rather than on giving a name to the
child’s problems (Le Couteur et al., 2003). Focusing on and responding to needs
at the outset and then taking the diagnostic process slowly should decrease the
chances of error while not depriving the child and their family of support.

194
 Assessment, Diagnosis and Screening

Older children and adults Older children and adults who have not previously
been diagnosed with an ASD are often at the more extreme ends of the spectrum.
In very low-functioning individuals, the predominance of needs relating to physi-
cal and intellectual disabilities may lead to signs of autism being overlooked until,
as sometimes happens, behavioural signs of autism become prominent and need
to be addressed. In the case of Craig, for example (described in Box 4.3), notably
poor social and communication skills were not easily explained by his diagno-
sis of Williams syndrome. The additional diagnosis of autism helped his parents
and teachers to understand him better, and to work with him more effectively.
The answer to the ‘When?’ question in the case of low-functioning individuals is
therefore: ‘Never too late if the autism diagnosis achieves better provision for their
needs’ (Bennett et al., 2005). :
In high-functioning individuals, autism-related behaviours may be well
compensated for or masked by superior academic achievement. The structure
provided by home and primary school may also help high-functioning chil-
dren to cope without excessive stress. Coping mechanisms may, however, break
down in the more demanding and less structured environments of secondary
school, college, and independent adulthood, with relationship failure and stress-
related depression or anxiety bringing high-functioning older children or adults
to the attention of educational or clinical psychologists or psychiatrists (see,
for example, the case of Mr A. described in Box 4.4). There is a slight risk that
high-functioning adults are misdiagnosed with a mental health problem, the
chronic problems associated with the individual’s autism being overlooked, and
inappropriate treatment prescribed. Careful differential diagnosis (e.g. from
schizoid personality disorder, anxiety disorder or OCD) is therefore particularly
important for these people.
For highly able older children or adults, the answer to the ‘When?’ question
is therefore again pragmatic: ‘When a diagnosis helps them to understand them-
selves, or to be better understood by those around them, or to receive needed
intervention or support’. An example of how positive it can be for an individual
to obtain a diagnosis, albeit belatedly, is wonderfully described by ‘PJ’ in Box 11.2.
By whom and where should a diagnosis be made?
Infants andyoung children Once concerns have been raised about a young child’s
development, the first professional to be consulted is generally the family doctor.
What happens next is dependent on a range of factors, including the degree of
delay and difference in any particular child’s development, the knowledge and
experience of autism of the doctor first seen, and the availability of specialist facil-
ities in the country or region of the country in which the family lives.
At best, the child will be immediately referred to a multidisciplinary child
development clinic for assessment. The professionals who may be involved in this
assessment will probably include a paediatrician or paediatric neurologist, a clin-
ical or educational psychologist, a speech and language therapist/pathologist, and
a preschool education or family liaison specialist. An example of good practice in
the diagnostic assessment of young children is described in Box 11.3.

195
Practical Issues

Box 11.2 From ‘Peter’ to ‘PJ’: Reflections

on late diagnosis
Some 15 years ago | was asked to see a young man (introduced to me as ‘Peter’)
who despite having a degree in a very marketable subject, and despite frequently
being shortlisted for appropriate posts in his field, nevertheless repeatedly failed
on interview. He was becoming depressed, and thought that the problem might be
something to do with his speech. | thought that Peter’s speech was generally clear,
but that what he told me about himself suggested that he might have Asperger
syndrome: Because | am not qualified to diagnose, | referred Peter to a colleague
specialising in the diagnosis and treatment of high-functioning people with ASD.
My suspicions that Peter was on the autism spectrum were confirmed, and the
effect of receiving a diagnosis was described by Peter in the following werds:

It felt like | had woken up from a walking coma after 30 years. Up to the time
| got a diagnosis, | felt | was living as somebody else. | felt a sense of relief
because | had felt before that there was something there, but | did not know
what it was; getting a diagnosis answered a lot of questions. It also felt as if
my life had eventually turned the right way up. . . . it helped me find who | truly
was. Because not only did it answer many questions and turn my life the right
way up, but it also gives me a chance to ‘rebuild myself: Since my diagnosis,
my name is PJ because this is my new identity and, as such, Peter died the
day | got diagnosed.

(From PJ Hughes, 2007)

In the intervening years since he obtained a diagnosis, PU has done an amazing

amount to publicise and explain ASD to other people, as well as playing an active
role within his local Autism Support Group and at national level. He writes and gives
talks about autism from his own personal perspective. He was a Trustee for the
National Autistic Society (UK) for four years, and was entertained at 10 Downing
Street when the NAS celebrated its Golden Anniversary in 2012. PJ is currently on
the NAS’s National Forum of experts and advisors.

(With thanks to PJ for providing the above information and

agreeing to its publication)

Child development clinics offering multidisciplinary assessments are not,

however, available in all countries or regions. Children may then be referred for
diagnostic assessment by a child psychiatrist or paediatrician, or by a clinical
or educational psychologist specialising in autism-related problems. However,
it would be unusual for a diagnosis to be made by a single professional without
reference to information from others, and reports from other specialists would
probably be requested before making a diagnosis. It is particularly important for
more than one professional to be involved in the process of making a diagnosis,
because it has been shown that collaborative assessment leads to more reliable

196
 Assessment, Diagnosis and Screening

Box 11.3 An example of good practice in the

diagnostic assessment of a young child
The Lorna Wing Centre is run by the National Autistic Society (UK) and situated
in a tree-lined residential road in a London suburb. Staff who may be involved in
assessing a particular individual, whether child or adult, include a psychiatrist,
Clinical and educational psychologists, and speech and language therapists, plus
dedicated administrative staff. Key points of procedures used when assessing a
young child include the following.
Prior to an appointment, information about the child is obtained by letter or
phone from the child’s doctor, and from responsible people at the child’s playgroup
or school, as appropriate and with parents’ permission.
The child’s parent(s)/major carer(s) are contacted by telephone to tell them
what to expect when they visit, and to ask them to explain to the child that the visit
should be fun, and that it will help them ‘and Mummy and Daddy’ (as appropri-
ate). They are asked about the child’s interests, and what they might like for lunch
(which is provided at the Centre); and it is suggested that the child should bring a
favourite toy, book or DVD — even a pet, if practicable!
Photographs of rooms and of staff at the Centre may be sent to the family in
advance, to mitigate the unfamiliarity of the place and the people the child will
meet.
The diagnostic visit lasts from 10.00 am until 4.00 pm. This allows time for a
leisurely settling-in phase, often centred on the kitchen where there are drinks and
snacks, with time to explore other rooms in the Centre, and for the child to become
familiarised with staff. Only one assessment is carried out on any one day, so the
number of strange faces is small.
Once the child has settled in, an extended interview is carried out with the
child’s parent(s)/carer(s) by a member of the team, including administration of the
DISCO (see below). As and when the child is willing to separate, they are invited
to go with another member of the team to the playroom (or back to the kitchen),
where their behaviour, learning and language abilities are assessed.
After lunch there is an extended feedback/question-and-answer session with
the parents, which includes advice about future intervention, management, educa-
tional placement and likely prognosis.
After the visit the professionals who have carried out assessments meet and
draw up a report to be sent to the parents and, with the parents’ permission, to
heads of local services.
(With thanks to the Manager of the Lorna Wing Centre,
who supplied this information)

and earlier diagnosis than diagnosis by a single person, however experienced

(Risi et al., 2006).
Prompt referral to a multidisciplinary centre or other diagnostic clinic is, unfor-
tunately, not what reliably happens as a result of an initial visit to the family
doctor. Doctors who are in genuine doubt as to whether they are looking at a
child who might have a significant developmental problem, as opposed to a child

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Practical Issues

who is just a little on the slow side developmentally, may refer the child for assess-
ments that might help to clarify the nature and cause of the child’s behavioural
anomalies but which are not designed to assess the child for possible autism. For
example, the child might be referred to an audiologist for hearing assessment, a
speech and language therapist for assessment of communicative development, an
educational psychologist for assessment of developmental level or intelligence,
a neurologist for investigation of motor abnormalities, or the preschool clinical
psychology service or family therapy clinic if the GP suspected emotional prob-
lems related to difficulties within the family (which could, of course, result from
stresses centred on the child). Referrals such as these may be useful in helping to
rule in or rule out some possible causes of the child’s developmental differences,
and thus contribute to differential diagnosis. However, none of these assessments
by themselves is sufficient for an authoritative diagnosis of ASD, and referring the
child for a succession of specialist assessments can introduce undesirable delay. At
worst, the family doctor will give unwarranted, if well-meant, reassurance of the
kind ‘She’s fine; you’ve nothing to worry about’, or a temporising response such as
‘He’s probably just a slow starter — let’s see how he’s doing in six months’.
Older children and adults Older children and adults are most likely to be referred
or to self-refer to a psychiatrist, clinical psychologist or counsellor on account of
relationship problems or mental health problems, especially anxiety and depres-
sion. Occasionally (inadvertent) criminality brings an older child or adult to the
attention of medical practitioners as in, for example, the case of Gary McKinnon,
the young man belatedly diagnosed with Asperger syndrome after hacking into
the Pentagon’s computer files.
Guidelines set out by the National Institute for Clinical Excellence (NICE) in
the UK advise that the diagnosis of adults with suspected ASD should:

e be undertaken by professionals who are trained and competent;

e be team-based and draw on a range of professions and skills;
e where possible involve a family member, partner, carer or other informant, or use documen-
tary evidence (such as school reports) of current and past behaviour and early development.

Methods for Diagnosing ASD

There are currently no methods for diagnosing ASD using physical tests, although
arguments for one or another potential biomarker have proliferated over recent
years (for reviews, see Goldani et al., 2014; Ruggeri et al., 2014). Given the het-
erogeneity of risk factors for ASD (see Chapter 7) and the heterogeneity of brain
correlates of ASD (see Chapter 8), it may be the case that no single biomarker will
be found which reliably indicates autism in all cases (Anderson, 2014). Neither
can ASD be diagnosed on the basis of physical appearance, such as provides an
initial diagnostic indicator of numerous congenital medical conditions; nor on
the basis of the kinds of behavioural tests that produce clear-cut evidence of, for
example, visual impairment or cerebral palsy. Instead, diagnosis must be made by
assessing an individual’s developmental history and current patterns of behaviour,

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 Assessment, Diagnosis and Screening

and comparing the results of these assessments with the diagnostic criteria for
ASD as detailed in DSM-5 or ICD-10.
In the next subsections, some well-authenticated methods of collecting
information about the individual in the past and present are described. By ‘well-
authenticated’ is meant that the methods have been shown to be both reliable
and valid. By validity is meant that the test has a high level of sensitivity (defined
as producing a low proportion of false negatives) and a high level of specificity
(defined as producing a low proportion of false positives). For discussion of the
concepts of reliability and validity in relation to diagnostic tests for ASD, see Lord
and Costello (2005).
The ‘gold-standard’ procedures
Autism Diagnostic Interview-Revised (ADI-R) The ADI-R (Rutter, Le Couteur,
& Lord, 2003) was frequently described as constituting the ‘gold standard’ for
diagnosis of an ASD-related disorder as defined in DSM-IV. It was not designed
to differentiate between putative subtypes of ASD, and seems likely to retain its
position as the most widely used interview schedule post-publication of DSM-5.
The ADI-R consists of a lengthy semi-structured interview in which a parent
or primary caregiver is questioned by a trained clinician using a set of questions
designed to obtain the information summarised in Box 11.4.

Box 11.4 Topics on which information is

elicited in the ADI-R
e The family background, education, previous diagnoses (if any) and medications
(if any) of the child or adult who is being assessed.
Their behaviour, in general terms.
Early development and developmental milestones.
Language acquisition and any loss of language or other skills.
Current functioning with regard to language and communication.
Social development and play.
Interests and behaviours.
Other clinically relevant behaviours, such as hearing impairment, self-injury or
epilepsy.

The interviewer records and codes responses in a standardised way that provides
both an overall score and scores on key domains of autism-related behaviour. If
scores in each of these domains reach certain levels, then a diagnosis of ASD based
on DSM-5 criteria can be made. The severity of an individual’s autism, in terms of
problematic behaviours within each domain, is also rated, as required in DSM-5.
A long-recognised weakness of the ADI-R, however, has been a lack of sen-
sitivity to signs of ASD in toddlers and very young children (Risi et al., 2006;
Wiggins and Robbins, 2008). Modifications of the ADI-R for use with children
aged 12-47 months have been developed (Kim & Lord, 2012a) but appear to

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Practical Issues

remain unsatisfactory (de Bildt et al., 2015). Specifically, this interview schedule
lacks sensitivity to signs of ASD in more able children in this age group. No doubt
attempts to correct this weakness will continue, and interested readers should
look out for developments.
Autism Diagnostic Observation Schedule (ADOS) In a ‘best practice’ diagnostic
assessment, the ADI-R has for many years been supplemented by information
from the Autism Diagnostic Observation Schedule (ADOS) (Lord et al., 1999).
The original ADOS consisted of four sets of specified activities, to be carried out
using a kit of materials supplied with the test. Sets of activities are referred to as
‘modules’, each module being designed for use with individuals within a particular
age or ability range, from preschoolers with little or no language to adults with flu-
ent language. Activities specified within each module are initiated by the clinician,
who both interacts with and observes the child or adult being assessed. A series of
‘presses’ are written into the instructions for testing, designed to elicit certain initi-
ations and responses by the individual being tested. However, no direct instruction
is involved. The activities used for assessing children with ‘flexible phrase speech’
are listed below, in the order in which they are introduced:

A construction task....... make believe play...... joint interactive play...

free play...snack... response to name...response to joint attention cue...

birthday party.....bubble play ....anticipation of a routine with objects...

demonstration task (‘Show and tell me how...’)....... conversation.....

description of a picture.....looking at a book

The observer, who must be trained in the procedures and scoring methods to
be used, takes notes during the assessment and codes the individual’s behaviour
according to listed items immediately after administration of the session. From
this information a score is obtained and a specified calculation, or algorithm, is
applied to determine whether or not a diagnosis of ASD is appropriate.
In response to the increasingly appreciated need for early diagnosis, a second
edition of ADOS was published in 2012. ADOS-2 consists of five instead of four
modules, an additional ‘toddler’ module having been added, designed to assess
communication, social interaction, play, and restricted and repetitive behaviours
in children from 12 months of age. The toddler module appears to have good
diagnostic validity (Luyster et al., 2009), and is consistent with DSM-5 criteria
(Guthrie et al., 2013). When ADOS-2 is used together with the modified scor-
ing and interpretation of the ADI-R, described above, diagnostic validity for the
assessment of very young children is high (Kim & Lord, 2012b)
Interview schedules with a broader focus
Although the combined use of the ADI-R and ADOS-2 is widely considered to
offer a highly reliable method of diagnosing ASD, these assessment procedures
focus exclusively on the detection of autism. This tight focus ignores the fact

200
 Assessment, Diagnosis and Screening

that ‘ASD’ is not a clear-cut condition: it sometime occurs in partial forms, or in

combination with other conditions such as ADHD, specific language impairment,
learning disability or dyspraxia. Two diagnostic procedures are outlined next
which aim not only to detect autism, if present, but to build up an individual’s
profile of abilities and disabilities so that appropriate advice can be offered regard-
less of whether or not an autism diagnosis is made. Both these procedures consist
of extended interview schedules to be carried out by a trained interviewer in a
face-to-face session. When a child or low-functioning individual is being assessed,
the interview is carried out with a parent or other primary carer. In the case of
high-functioning adults, interviews are carried out with the person being assessed
plus a family member who has known them from childhood. In all cases, the
interviewee’s responses are scored according to a prescribed protocol and analysed
using prescribed algorithms.
Two well-authenticated methods of identifying whether or not an individual
warrants a diagnosis of ASD, but at the same time building up an extended profile
of the individual’s strengths and weaknesses and therefore their intervention and
support needs, are outlined below.
The Diagnostic Interview for Social and Communication Disorders (DISCO) The
DISCO (Wing et al., 2002) is considered first because it is a well-tried and -tested,
highly respected procedure. Topics covered during the interview fall under the
headings listed in Box 11.5.

Box 11.5 Topics on which information is

elicited in the DISCO
Infancy history.
Age of any setback in development.
Gross motor skills.
Self-care, e.g. feeding, dressing, domestic skills, independence.
Communication.
Social interaction with adults and with age peers, including social play.
Imitation.
Imagination.
Skills, e.g. reading and writing, number, money, dates and time, special abilities.
Motor and vocal stereotypies.
Responses to sensory stimuli.
Repetitive routines and resistance to change.
Emotions.
Activity pattern.
Maladaptive behaviour.
Sleep pattern.
Catatonic features.
Quality of social interaction.
Any history of psychiatric conditions or sexual problems.
Practical Issues

The DISCO was developed in accordance with the concept of autism as a

spectrum of related conditions, consistently argued for by Lorna Wing, and it has
proved an accurate tool for diagnosing autism spectrum disorder as defined in
DSM-5 (Kent et al., 2013).
The Developmental, Dimensional, and Diagnostic Interview’ (3Di) The 3Di
(Skuse et al., 2004) is an extended interview schedule predicated on the con-
cept of ASD as a dimensional condition in the sense that very many distinct
dimensions of behaviour may (or may not) be affected to a greater or lesser
extent. As in the DISCO, the behavioural dimensions assessed are not exclu-
sively those associated with strengths and weaknesses diagnostic of ASD. The
major innovation associated with this procedure is that the trained interviewer
enters responses onto a computer which analyses the data and produces an
immediate report. :
The 3Di is a well-validated screening tool, and the latest version of this interview
schedule, the 3Di-5, produces results consistent with DSM-5 symptomatology
(Skuse, 2013).
Other diagnostic instruments
Numerous other diagnostic checklists, rating scales and observation schedules have
been developed over the years, each designed to identify individuals with autism
according to whatever diagnostic criteria were current. Some of these have been
updated as diagnostic criteria have been modified. None of these instruments,
however, can be relied on as safely as the ADI-R (especially in combination with
the ADOS-2) or the DISCO - possibly also the 3Di, although this procedure has
been less exhaustively validated — in making a diagnosis. This does not imply that
the currently recommended methods of diagnosis are 100 per cent reliable and
will not themselves be modified or superseded in the future: they are just the most
reliable diagnostic tools available at the time of writing.

SCREENING
Why Screen?

Screening in the field of medicine is used to identify those who may be at signif-
icant risk for a particular disease or disorder. It may be carried out across a whole
population, for example screening all women within a certain age range for early
signs of breast cancer. Alternatively, screening may be carried out with a selected
group of individuals thought to be at increased risk of developing a disease, for
example women with a family history of breast cancer.” Those identified as likely
to have the disease, or to be at significant risk of developing it at a later date, may

2In the US, the terms primary or Level I screening and secondary or Level 2 screening are used to differentiate between
whole population screening and selected population screening, respectively.

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 Assessment, Diagnosis and Screening

be referred for fuller diagnostic assessment, for precautionary treatment or advice

and/or for future monitoring. Screening tests are also widely used by researchers
to check (a) that the participants in the group targeted in a study do, in fact, have
the condition under investigation and (b) that the participants in any comparison
group do not have the condition, even in very mild form.
To be useful and also economically justifiable when used in population-wide
clinical assessment, screening tests must have been shown to have high levels of
sensitivity and specificity (see above). A ‘well-validated’ or ‘well-authenticated’
screening test also has high predictive value. The predictive value of a screen-
ing test reflects how accurately that test predicts the proportion of individuals
in the population screened who have — or who may have — a particular disease
or disorder, as compared to the proportion who need no further investigation or
treatment.
In view of evidence that early intensive intervention improves outcomes in indi-
viduals with ASD, universal screening of toddlers and very young children has
been called for in the US and is under discussion in many other countries. Given
that there is to date no reliable biomarker for ASD, the development of effective
behavioural methods of screening for ASD in very young children is now seen as
urgent (Camarata, 2014).

Methods of Screening for ASD

Toddlers and very young children

There is a proliferation of methods on offer, some focusing on whole population
screening and some directed towards screening groups considered to be ‘at risk’
(usually because there is a sibling or other close family member with ASD).
Eighteen different methods of screening for incipient ASD in toddlers and young
children are reviewed by Garcia-Primo et al. (2014). In addition, some widely
used screens for general developmental progress have sections that relate spe-
cifically to the detection of possible autism. For example, the widely used ‘Ages
and Stages Questionnaire’ (Brookes Publishing Co.) has an optional section on
‘social-emotional development’.
The most extensively tested and refined screening tool for the early detection
of autism is the Checklist for Autism in Toddlers (CHAT) (Baird et al., 2000). The
CHAT was designed for use by doctors and nurses during routine check-ups, and
consisted of certain structured observations of the child’s behaviour as well as nine
‘yes/no’ questions to be answered by a parent or other primary caregiver. Two of
the questions were considered to be critical probes for autism-related behaviour.
These questions were:

Does your child ever PRETEND, for example, to make a cup of tea using a toy cup and
teapot, or pretend other things?

Does your child ever use his/her index finger to point, to indicate INTEREST in
something?

203
Practical Issues

The CHAT proved to have good specificity, but relatively weak sensitivity, i-e. it
produced few false positives but an undesirable number of false negatives.
With the permission of the original authors, the Modified Checklist for Autism
in Toddlers (M-CHAT) was developed in the US by Robins et al. (2001). The
M-CHAT consists of 23 questions presented as a written checklist, to be
answered by a parent or other primary caregiver. The first nine questions come
from the CHAT, and the additional questions are designed to obviate the need
for behaviour observation. The M-CHAT is, moreover, designed to cater for
infants within a wider age range than the original, namely from 16 to 30 months.
High rates of sensitivity, specificity and predictive power were reported follow-
ing a large-scale study of the validity and usefulness of this screening procedure
(Dumont-Matthieu & Fein, 2005).
Most recently, a follow-up questionnaire has been introduced as a check on chil-
dren identified as possible cases of ASD, this two-stage procedure being referred
to as M-CHAT-Revised with Follow-up (M-CHAT-R/F). Tests of this latest revision
look promising as a method of universal screening for ASD (Robins et al., 2014).
Being in the form of questionnaires to be completed by parents using ‘yes/no’
responses, it is quick and cheap to carry out, is not dependent on specially trained
clinicians, and ensures that only those toddlers highly likely to have ASD and/or a
related condition of significant concern go through to full-scale clinical evaluation.
This test was originally available only in English but is now available in translation
in several non-English-speaking countries.
Adults
The Autism-Spectrum Quotient, sometimes referred to as the ASQ but more usually
referred to as the AQ (Baron-Cohen et al., 2001; Woodbury-Smith et al., 2005),
is currently recommended by the UK’s National Institute for Clinical Excellence
(NICE) as one of the sources of information that may contribute to diagnosis in
adults. An outline of test content and scoring is shown in Box 11.6.
Versions of the ASQ/AQ using parental report have been developed for use
with adolescents (Baron-Cohen et al., 2006) or with primary school-age children
(Auyeung et al., 2008), but are less well validated and less commonly used than
the well-authenticated adult version.
Across the age range: Toddlers to adults
Three well-validated screening instruments suitable for use with children and
adults have been derived from the diagnostic instruments outlined in the previous
main section of this chapter.
The Social Communication Questionnaire (SCQ) The SCQ (Rutter, Bailey, & Lord,
2003) consists of 40 questions selected from the ADI-R (see above). Questions
are designed to elicit ‘yes/no’ responses, and to be completed by a parent, primary
carer or (in the case of a high-functioning adult) the individual themselves with
assistance from a close family member. The advantage of the SCQ is the speed
with which it can be completed and then scored by a clinician. For example, it can
be completed on arrival at a clinic prior to a consultation, providing the clinician
with critical guidance as to how best to proceed during the consultation.

204
 Assessment, Diagnosis and Screening

Box 11.6 The Autism-Spectrum Quotient

(AQ) — Adult version
Content: The AQ is a self-report questionnaire consisting of 50 items made up of
ten questions assessing five different areas:

Social skills.
Attention switching.
Attention to detail.
Communication.
Imagination.

Items relating to the five different areas are randomly distributed across the
questionnaire. Following each question, four responses are listed, one of which the
respondent must circle/underline. Options for responding are:

definitely agree; slightly agree; slightly disagree; definitely disagree

Scoring: Each question is specifically designed to elicit either an ‘Agree’ or a

‘Disagree’ response from individuals with ASD or ASD-related traits. Two points
are scored for ASD-predictive ‘definitely agree’/‘definitively disagree’ responses;
one point for ASD-predictive ‘agree’/‘disagree’ responses; and no points are scored
for non-ASD-predictive responses. A total score of 32 or more is indicative of a
significant level of ASD-related behavioural traits.

The DISCO Signposting Set The DISCO Signposting Set (Carrington et al.,
2014) is a 14-item questionnaire using questions selected from the DISCO. Like
the DISCO, the Signposting Set is an interview schedule to be carried out and
scored by a clinician, who questions a parent/primary caregiver or the adult
being assessed. The specified aim of the DISCO Signposting Set is to provide
clinicians with a reliable guide as to whether or not they should proceed with a
full clinical evaluation. Initial tests of this procedure have reported high levels of
sensitivity and specificity and good alignment with DSM-5 criteria (Carrington
Sil 4sbowk
The Developmental, Dimensional, and Diagnostic Interview - short version
(3Di-sv) The 3Di-sv (Santosh et al., 2009) is an interview schedule designed to
be administered by a trained clinician or researcher. It consists of 112 questions
(fewer than half the number of questions in the full-form 3Di) and is reported
to take 45 minutes to administer, with responses being entered into a computer
programme. As in the full-form 3Di, a report is instantly available. Santosh et al.
report good levels of sensitivity and specificity, and consistency with outcomes
from the full-form of the 3Di and also from the ADI-R. Although a power-
ful screening test, its usefulness to a broad range of clinicians or researchers is
reduced by the time taken to administer this test, and the need for a specially
trained interviewer.

205
Practical Issues

The Social Responsiveness Scale (SRS) The SRS (Constantino et al., 2003) is
65-item questionnaire designed to be answered by a parent, teacher, or other per-
son who is currently familiar with the individual being investigated. For each item,
one of four given responses ranging from ‘not true’ (which scores ‘1’) to ‘almost
always true’ (which scores ‘4’) must be circled or underlined. As its name suggests,
this questionnaire probes social reciprocity in particular, and is well suited for the
detection of autism-related traits or tendencies in individuals — including adults —
who may, or may not, have the full form of ASD.

As with methods of diagnosis, numerous other methods of screening for ASD or

for ASD-related traits or risk factors have been developed over the years. These
include a variety of checklists, rating scales and observation schedules, some of
which are language and/or culture specific (see the review of screening methods
for toddlers by Garcia-Primo et al., 2014, mentioned above). Some-of the older,
English-language tests, such as the Autism Behaviour Checklist (ABC) (Krug et al.,
1978) and the Childhood Autism Rating Scale (CARS) (Schopler et al., 2002),
have stood the test of time and may still be used as quick-and-easy spot checks for
signs of autism.

SUMMARY
Assessment in the field of autism is used for a variety of purposes, most notably
for diagnosis and screening, but also for assessing individuals’ strengths, needs and
progress with regard to intervention, education and care. Assessments for diag-
nosis and screening (the topic of the present chapter) are designed to determine
group membership, or the likelihood of group membership, whereas assessments
associated with intervention, education and care focus on individuals’ strengths,
needs, progress, suitability for support, etc.
Diagnosis is a tool with certain functions. Major functions include: enabling more
able individuals with ASD to understand themselves; helping families and carers
to better understand the nature of the problems they and the cared-for person
may be experiencing; accessing services and other forms of support; and plan-
ning for the future. However, diagnosis also facilitates communication between
practitioners, in that diagnostic terms act as shorthand to convey information
that would otherwise have to be detailed. Diagnosis is also necessary for esti-
mating prevalence and thus for estimating the need for provision of educational,
health care and other services. Finally, diagnosis is needed to ensure comparability
between participants assessed in different research studies.
It has sometimes been argued that ‘labelling’ individuals with a diagnosis is
stigmatising, creating prejudice and lowering expectations of that individual.
In response it has been argued that it is the condition itself, and the fact that
individuals with ASD are perceived as ‘different’, that creates stigma, not the
labelling process.

206
 Assessment, Diagnosis and Screening

The appropriate time for a diagnosis to be made is as soon as the gains to be

made for the individual and their family outweigh the disadvantages of possible
misdiagnosis (which can occur in the case of infants and very young children).
The processes of obtaining a diagnosis vary from country to country and regionally
within any country. For infants and young children, the process at best starts with
the family medical advisor and moves quickly to a specialist diagnostic centre
offering multidisciplinary diagnostic assessments. Another reasonably satisfactory
route to diagnosis involves referral from the family doctor to a specialist practi-
tioner, who then obtains information from other specialists such as may be needed
to arrive at a secure diagnostic decision. Unfortunately, many families, even in
developed countries, encounter delay and difficulty in having their young child
fully and efficiently assessed. High-functioning adults with undiagnosed ASD, who
have coped well during their school years and possibly into middle or older age,
may benefit from diagnosis if life stresses increase to the extent that the person’s
autism causes significant distress or difficulty. Such individuals generally come to
the attention of clinical psychologists or psychiatrists for diagnostic evaluation.
The most authoritative diagnostic instruments now available are the Autism
Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation
Schedule — 2 (ADOS-2) used in combination. The Diagnostic Interview for Social
and Communication Disorders (DISCO), also the 3Di, provide a broad picture of
an individual’s strengths and needs, which may include an ASD diagnosis.
Screening in the autism field is used to identify individuals at significant risk
of having ASD, rather than to produce a reliable diagnosis. An effective screen-
ing method has high specificity, sensitivity and predictive value. Screening whole
populations, or selected populations, of very young children for ASD is impor-
tant because of evidence suggesting that early intervention is more effective
than later intervention (Webb et al., 2014). The Modified Checklist for Autism
in Toddlers (M-CHAT), now revised to include selective follow-up screening,
is the best authenticated of a large number of infant screening procedures. For
adults, the self-report Autism-Spectrum Questionnaire (AQ) is widely used.
For use across a wide age range, typically from about 4;0 years upwards, the
Social Communication Questionnaire (SCQ) and the Social Responsivity
Questionnaire (SRS) are quite widely used, with the DISCO-Signposting Set
and short-form of the 3Di promising well for use by clinicians.

207
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 INTERVENTION

THE AIMS OF INTERVENTION

PROS AND CONS OF INTERVENTION

Prevention and Cure
Treatment

POSSIBILITIES FOR PREVENTION AND CURE

Prevention
Cure

TREATMENT METHODS
Discriminating Between the Options
Evidence-based versus Non-evidence-based Treatments
Evidence-based Non-physical Treatments
Borderline Evidence-based Non-physical Treatments
Evidence-based Physical Treatments
Borderline Evidence-based Physical Treatments
Non-evidence-based Physical Treatments
Unproven Does Not Necessarily Mean Useless

FUTURE DIRECTIONS

SUMMARY
Practical Issues

AIMS _
thewmain aimn of this chapter iis to provide iatormélion about a representative sam-
2 ple of currently available interventions, broadly interpreted to include possibilities
for prevention and cure as well as treatments designed to promote development
and learning or to réduce unwanted behaviours. A secondary aim is to stimulate
a critical approach to issues relating to intervention, in particular by: (1) outlining
the arguments of the ‘neurodiversity’ movement, which queries the appropriate-
ness of intervening; and (2) establishing a framework for evaluating the efficacy of
treatment methods.

THE AIMS OF INTERVENTION -

Intervention is interpreted here as including prevention, cure and treatment.
Interventions for idiopathic autism only will be considered. Forms of syndromic
autism are many and varied, with some forms theoretically amenable to pre-
vention in particular, if the genetic basis of the particular syndrome is known
and relatively simple. However, whether lowering the incidence of, for example,
tuberous sclerosis or Prader-Willi syndrome would have any significant impact
on the incidence of ASD is questionable. We do not know why autism occurs in
some cases of certain syndromes but not in other cases. So preventing or curing
the co-existing syndrome might well be insufficient to prevent the occurrence of
autism. This is not, of course, to question the desirability of reducing population
frequencies of those debilitating medical conditions involved in syndromic ASD.
The aim of prevention is to eliminate autism from the population or at least to
reduce the incidence of autism. Prevention would achieve this by ensuring that
people with ASD are not conceived; or, if conceived, not born; or, if conceived and
born with prodromal autism, then not exposed to whatever environmental expe-
riences might convert incipient autism to a diagnosable condition.
The aim of curing autism is to reduce the prevalence of ASD in the population.
This could be achieved by ‘correcting’ underlying brain abnormalities and thereby
‘normalising’ behaviour; and/or targeting behaviour directly with the aim of mod-
ifying it to meet standards of ‘normality’ or ‘typicality’, with or without associated
changes of brain structure and/or function.
The major aims of most forms of treatment of people with ASD are to facilitate
development and to increase an individual’s competencies and control over their
own lives. Other treatments aim to eliminate or ameliorate behaviours or comor-
bid conditions that are patently distressing or disadvantageous to the individual
with ASD; and/or those that impact significantly negatively on others, whether
carers, classmates, workmates, or people in the street; and/or those that place espe-
cially heavy financial burdens on society or may rank as antisocial or criminal.
The aims of preventing, curing or treating autism might at first glance seem
unquestionably desirable. However, this is not the case, especially where prevention

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or cure are concerned. Before considering methods of intervention, therefore, some

of the pros and cons of intervening are outlined, first in the case of prevention or
cure, then in the case of treatment.

PROS AND CONS OF INTERVENTION

Prevention and Cure

Arguments in favour
Preventing or curing autism might be assumed to be desirable from the point
of view of individuals, even the unborn whose predictable suffering, it might be
argued, can be prevented. It might also be assumed to be desirable for families
who would be spared the sacrifices, stresses and strains associated with living
with and caring for a person with ASD. It might well be considered desirable for
society in general, given the huge financial costs associated with providing for the
health, educational, social and care needs of people with ASD, especially those
who are less able. Prevention or cure might, in sum, be judged to have positive
outcomes for individuals, families, and society in general. There are, however,
counter-arguments, as considered next.
Arguments against
Counter-arguments relating to individuals It would be wrong to assume that all
people with ASD would have preferred not to have existed or would want to be
‘cured’. Indeed, many individuals at the high end of the spectrum have vocifer-
ously argued of late that people with ASD are simply different from ‘neurotypical
people’: they are not ‘disordered’, let alone ‘sick’, medically speaking. They argue
instead that autism is the product of the normal distribution of behavioural traits
such as ‘sociability’, ‘persistence’, ‘attentional focus’, entailing that a small pro-
portion of the population is born with poor socialising potential but powerful
capacities for sustained attention on the minutiae of a particular topic of interest.
The ‘Aspies’ who argue in this way are aligned to what is called the neurodiversity'
movement. This movement extends well beyond ASD in arguing that many, if not
all, people who in the past might have been considered to be ‘disabled’ in some
way or another should now be considered to be simply ‘different’. For those highly
able people with ASD making this case, questions relating to prevention or cure
simply don’t arise — and are, in fact, understandably objectionable.
However, when the neurodiversity concept of ASD is used to argue against
seeking to prevent or cure autism when it occurs in severe form accompanied
by multiple additional problems, it is much more questionable. We cannot
ask people with autism plus severe learning difficulties and minimal language
plus, perhaps, tuberous sclerosis, epilepsy, phobias, compulsions and sleeping

'Words and phrases in bold type on first occurrence can be found in the Glossary.

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Practical Issues

difficulties whether they might have preferred to have been born without
these problems, or whether they might like to be ‘cured’. We can, however,
consider their vulnerability to frustration and distress, and the limitations of
what gives them pleasure, and cautiously conclude that their quality of life is
significantly compromised by their conditions. For discussion and further ref-
erences relating to the neurodiversity argument, see Krcek-(2013) and Kapp
et al. (2013); also a balanced and humane blog by John Elder Robison posted
on the Autism Speaks website in 2013.
Counter-arguments relating to families It would also be wrong to assume that
all families and other close carers experience living with and caring for a person
with ASD as a predominantly negative experience. In the long term, many parents
report positively about the experience of bringing up a child with autism, saying
that it had enriched their lives and provided challenges leading them to develop
an inner strength and acceptance of life’s setbacks they might not otherwise have
developed (Krauss & Seltzer, 2000; Park, 2001).
Counter-arguments relating to society Finally, it would be wrong to assume that
autistic people do not make contributions to society. Many of the world’s top sci-
entists, mathematicians, computer programmers, philosophers and others appear
to have (or to have had, in the case of historical figures) autism-related traits and
tendencies that contribute directly to their academic prowess. It would do the
human species no good at all, in fact it would be a retrograde step for the species,
to eliminate the set of behaviour traits that combine to produce so many of the
world’s highest achievers.
It is harder to argue, however, that lower-functioning people on the spectrum
make significant contributions to society. Some savant artists have produced work
that has been shown around the world; and savant calculators or estimators have
astonished live and TV audiences with their amazing abilities. Other contribu-
tions are more subtle, to do with what might be termed ‘lessons in life’ — about
how we view ourselves and how we come to appreciate individuals for them-
selves, seeing past their disabilities and learning to love them (Isanon, 2001). But
our own ‘lessons in life’ should not come at the expense of people whose lives are
so curtailed by their disabilities.
In sum, it should not be assumed that ridding the world of people with ASD
would constitute an unquestionably positive outcome. At the same time the real
suffering of many people with ASD, the strains on families and other carers, and
the huge financial burdens borne by society must be recognised. The challenge is,
therefore, to work towards the prevention or cure of complex, disabling forms of
ASD, while not undermining the persistence in the gene pool of those variations
that predispose an individual towards analytic thinking and the pursuance of com-
plex ideas and projects with a degree of persistence and tolerance of solitude that
is rare. For individuals with ‘pure’ autism, life can be good; strains and costs to
families are neither excessive nor lifelong, and society gains rather than loses from
their existence. Most importantly, they themselves proclaim their right to exist
and to be accepted and valued for who they are.

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Treatment

Arguments in favour
It is important to stress again that those individuals who have some SEC impair-
ments as well as restricted interests but who are living reasonably contented lives
do not warrant a diagnosis of ASD (Baron-Cohen et al., 2001). ‘Treatment’, there-
fore, is irrelevant to such people.
‘Treatment is only relevant to those whose SEC impairments and RRBs, com-
bined in many cases with additional physical and mental health problems,
neurodevelopmental disorders and learning difficulties, warrant a diagnosis such
as will enable them to access a range of relevant services.
Treatment for such people must surely be desirable from all points of
view. For example, interventions that decrease the severity of core symptoms
and increase an individual’s competencies and control over their own lives
empower the individual and increase self-esteem. Such interventions reduce
demands on carers, and can make the carer—cared for relationship more recip-
rocal. Reducing an individual’s dependence on others can also reduce costs to
the State. For instance, if a 20-year-old borderline achiever still living at home
can be taught how to read and to understand money, how to cross roads safely
and use public transport, then they can do some of the household shopping
and travel to their place of work or to leisure activities. This may postpone the
time when the individual will need to move into a bedsit or flat, supported
by the State. Similarly, supporting a 20-year-old high-achieving but obsessive
and anxious individual to satisfy the demands of a university degree course
will increase the likelihood of their finding salaried employment and achieving
financial independence in adulthood.
Arguments against
Despite the obvious arguments in favour of treatment, some counter-arguments
have been proposed. In particular, the assumption that being like the majority,
being ‘normal’/‘typical’, is inherently desirable may be questioned. As is increas-
ingly argued by the large and varied population of people with disabilities, being
‘different’ can have its own advantages and does not necessarily imply a need to be
made less different (see the references relating to ‘neurodiversity’, above). It might
also be argued that, especially for individuals with severe and multiple difficulties,
enhancing quality of life (aiming for happiness, wellbeing) rather than straining
towards unattainable goals of normality/typicality should be the pre-eminent aim
of intervention (Florian et al., 2000).
These caveats should be borne in mind when evaluating justifications for treat-
ments that aim to increase an individual’s competencies. They raise questions such
as ‘When is difference advantageous or at least acceptable to the individual first and
foremost, but also to those associated with the individual, and those providing for
them?’ ‘When, on the other hand, is difference a source of unhappiness, frustration
or difficulty to the individual?’ ‘When may treatment be counter-productive to an
individual’s happiness and wellbeing?’

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Practical Issues

Treatments that aim to eliminate or reduce maladaptive behaviours must

also be undertaken cautiously. In the first place, the likely benefits of any such
treatment must outweigh the risks of negative side-effects. This is particularly
important where treatments are invasive, involving, for example, medications,
dietary supplements or electrical brain stimulation. In the second place, judge-
ments as to what constitutes ‘maladaptive’ or ‘unwanted’ behaviour are not
always straightforward. For example, an obsession with firearms could lead
to antisocial behaviour, but might equally well provide a focus of interest
and pleasurable activities (reading specialist magazines, visiting museums).
Similarly, behaviour that is ‘unwanted’ in some contexts may be acceptable in
other contexts. For instance, some form of stereotypic movement or vocalisa-
tion may release tension and be perfectly acceptable at home, but not in church
or in the classroom.

POSSIBILITIES FOR PREVENTION

AND CURE
Prevention

The incidence of people with ASD may be reduced by genetic counselling. In

particular, couples who have relatives with ASD, or relatives who fall within the
broader autism phenotype (BAP), or who are themselves autistic or who fall
within the BAP, can be advised of their increased chance of having a child on
the spectrum. This, however, re-introduces the question as to whether or not it is
desirable to manipulate population frequencies of normally distributed traits that
can facilitate high academic achievement.
The incidence of ASDs might also, theoretically, be reduced by detection in
utero and subsequent abortion. However, there is at present no way of identifying
a fetus with the potential for later development of ASD. And if there were, abor-
tion would be highly controversial for numerous reasons.
If it were ever proved that autism can result solely from some environmental
factor or set of factors operating in utero or very early childhood in the absence
of any evidence of a familial disposition to autism-related behavioural traits,
eliminating exposure to such environmental factors could lower the incidence
of ASD without interfering with the gene pool. To date, no such factor has been
identified.
For infants born into multiplex families, and therefore at heightened risk for the
development of ASD, it may be possible to reduce this risk by intervening in the
first year of life. A study by Green et al. (2015) reported some encouraging results
using ‘Video Interaction to Promote Positive Parenting’ with very young high-risk
infants. However, a great deal more research would be needed to demonstrate
whether or not ‘pre-emptive’ intervention may be effective.

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Cure

Most parents of a child with ASD are — at least in the years following
diagnosis — desperate to find a cure for their child. The ideal of ‘different, not
disabled’ propounded by the neurodiversity movement must ring hollow to
parents of a 6;0 year old who compulsively eats grass and doesn’t speak, or of a
clever 10;0 year old who clings to the car door screaming every morning when
taken to school. Not only do parents of any young autistic child bear extra
burdens, they also suffer the disappointment of not having an ‘ordinary child’
who has friends, plays football or goes to ballet class, who will pass the usual
exams, even if not brilliantly, have boy/girlfriends, settle down with a secure
future, and be there for them in their old age. Parents of a child with ASD are
therefore easy prey for purveyors of miracle cures. However, of the dozens of
interventions claiming to cure autism, few have been rigorously evaluated for
either effectiveness or safety.
Many untested ‘cures’ for autism are made in entirely good faith, perhaps by
parents who have seen their own child’s autism radically diminish and who want
to share their experience with other parents. Other treatments (whether to cure,
or to relieve the severity of, an individual’s autism) are proposed by behavioural
practitioners such as special needs teachers, psychologists or occupational thera-
pists who sincerely believe they have found a method ‘that works’ but who have
not had their method evaluated objectively by disinterested others. Many pro-
claimed ‘cures’ are, however, offered by charlatans who stand to profit by selling
something to desperate parents. As noted in an article by Shute:

Snake-oil salesmen litter the Web. One site tells parents they can ‘defeat the autism in your
child’ by buying a $299 book; another touts a video of ‘an autistic girl improving after receiving
[expensive and possibly dangerous] stem cell injections: (Shute, 2010: 82)

Among the more bizarre interventions anecdotally claimed to offer a cure are
swimming with dolphins, getting a large friendly dog as a pet, and dosing the child
with a substance similar to bleach.
More encouragingly, reports of individuals diagnosed with ASD in early
childhood who no longer warrant ASD diagnosis in later childhood or
early adulthood (see Chapter 2) suggest that for some individuals at least,
an ‘optimal outcome’ — i.e. essentially a ‘cure’ — is possible, given intensive
psychosocial or behavioural treatment from very early childhood (Orinstein
et al., 2014; but see also Bélte, 2014). Optimal outcome (OO) individuals
retain traces of the significant SEC impairments and RRBs that characterised
them at the time of diagnosis. But having few close friends and somewhat
restricted interests does not constitute a mental health disorder. Unless the
individual is anxious or depressed for reasons related to their residual autism,
the diagnostic label has no further usefulness. Treatments that may contribute
to optimal outcomes are considered in the next main section.

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Practical Issues

TREATMENT METHODS
Discriminating Between the Options

For the overwhelming majority of individuals with ASD for whom a cure is not achiev-
able, there is a host of treatments on offer. For parents the choice must be bewildering.
For practitioners prescribing medications or advising on other kinds of interventions,
balancing the pros and cons of available treatments must also be daunting.
There are, however, ways of discriminating between treatment options. Three
important distinctions will be used to structure the discussion in this subsection.
These are distinctions between the following:
e Evidence-based as opposed to non-evidence-based treatments. This distinction is critical.
As noted by Matson and colleagues:

The number of interventions used in the field of autism is astronomical. Unfortunately, while
there are effective and well-researched methods, many of the techniques that parents use
have no empirical support. These interventions are expensive, take up valuable time, and
in some cases are dangerous. (Matson et al., 2013: 466)

The distinction between ‘effective and well-researched methods’ and methods for which
there is no acceptable empirical support is considered in some detail below.

e Comprehensive treatment models (CTMs) that target the set of behaviours that defines
ASD, as opposed to focused intervention practices (FIPs) which target one particular
facet of ASD-associated behaviour. This could be one facet of the defining impairments,
for example poor eye contact, or repetitive utterances. Or one of the problems occurring in
association with autism might be targeted, for instance pica or sleep problems.
e Non-physical treatments such as behavioural and psychosocial interventions and
educational practices as opposed to physical treatments such as medications, dietary sup-
plements, exclusionary diets, sensory or sensory-motor stimulation (with putative effects on
the brain), or direct stimulation of brain activity.

Treatments also differ in a number of other ways which will not be systematically
noted in what follows, but which may be important when considering treatment
options in individual cases. These include:

e The age-group for which they are suitable.

e Where, by whom, and how the treatment is carried out, whether at home, in school or clinic;
whether by parents/carers, or by one or more of a range of professionals or paid assistants;
whether the intervention is self-delivered (e.g. using e-learning packages) or delivered one-
to-one, or in formal or informal groups.
e The cost of the treatment.

Evidence-based versus Non-evidence-based Treatments

Evidence-based treatments
By ‘evidence-based’ is meant that the efficacy, safety and cost-effectiveness of
the treatment have been assessed in methodologically rigorous efficacy studies

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(plural) and consistently found to be effective, acceptably safe even if there

are some side-effects, and cost-effective. All medicines and other treatments
approved by national authorities such as the Federal Drugs Administration
(FDA) in the US or the National Institute for Clinical Excellence (NICE) in
the UK are evidence-based in this sense. Some commonly used efficacy study
designs are outlined in Box 12.1.

Box 12.1 Efficacy study designs

Open label studies monitor the progress made by participants having a
previously untested treatment. The participants (and/or their families or car-
ers) know that they are having the treatment and they know the effects the
treatment should have if successful.

Crossover designs used to evaluate the effectiveness of physical inter-

ventions consist of a period when participants are on treatment and a period
during which they receive a placebo. Behaviour at the beginning and end of
each period is compared to assess behavioural change, and the behavioural
change on treatment and on placebo is compared to test the prediction that
more improvement will be seen over the treatment period than the placebo
period. Half the group will start with a treatment phase and half on placebo,
and allocation to these subgroups should be randomised using an approved
procedure. If neither the actively involved researchers nor the participants and
their families Know which individual is in which subgroup, this is a double blind
trial. If the researchers know about subgroup membership but the participants
and their families do not, this is a single blind trial.

Crossover designs used for the evaluation of non-physical interventions

compare progress during periods of treatment with progress during periods of
no treatment (making blind trials impossible) or alternative treatment (in which
case blind trials are possible, but difficult to ensure).

Parallel designs are commonly used in the evaluation of both physical and
non-physical interventions. In this type of design the progress of two groups of
participants is compared, one of which receives the intervention that is being
evaluated while the control or comparison group receives either a placebo (in
studies of physical interventions) or no treatment/a contrasting intervention (in
studies of non-physical interventions). Participants are randomly allocated to
groups. This type of design is referred to as a randomised control trial (RCT).
Double blind trials should be used when evaluating physical interventions, but
are less easy to achieve in studies evaluating non-physical interventions.

Single subject experimental designs (SSEDs) assess a single-measure out-

come in a single participant who acts as their own control in an ‘off-on’ or ‘off-
on-off’ treatment paradigm.

The open label design constitutes an appropriate starting point for evaluating an
intervention, in that it can produce suggestive evidence such as might be needed
before embarking on a large-scale controlled study. However, open label studies
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Practical Issues

cannot prove that any positive effects result from the intervention as opposed
to non-specific factors. Crossover designs can produce clearly interpretable and
reliable findings when used to evaluate physical treatment methods, but are less
satisfactory for the evaluation of non-physical interventions, because there is no
exact equivalent to a placebo. Parallel designs may therefore be preferred in effi-
cacy studies of non-physical interventions for people with ASD, although using
no treatment control groups is ethically questionable. Single subject experimental
designs (SSEDs) are particularly useful for assessing treatment effects in con-
ditions such as ASD where it may be difficult to carry out group-based efficacy
studies. And although findings from isolated studies using this design carry very
little weight, consistent findings from a set of related SSEDs can provide useful
preliminary evidence concerning a particular treatment.
More detailed points of method with particular relevance for efficacy studies of
interventions for autism are outlined in Box 12.2. Fuller accounts of issues relating
to design and methodology in the evaluation of interventions for autism can be
found in Smith et al. (2007).
As is clear from the above, acceptance as an evidence-based treatment involves
passing very stringent tests of both effectiveness and safety. But if these tests
are passed, the treatment can be used with confidence. For a particularly clear
summary of the processes involved in licensing a treatment for use see McClure
(2014).

Non-evidence-based treatments
Non-evidence-based treatments include all those where:

e Efficacy tests have not been carried out.

e Efficacy tests have been carried out, but have not been methodologically rigorous.
e Methodologically rigorous efficacy tests have produced negative or mixed findings.

Borderline treatments
The distinction between evidence-based and non-evidence-based treatments is
not always clear-cut. New treatments have to be tried out, cautiously at first, per-
haps using an open label study design (see Box 12.1 above). The first one or two
large-scale efficacy studies may produce promising results — for example, findings
that are mixed but predominantly positive; or findings that suggest that a particu-
lar subset of people with ASD can be helped in this way. In such cases, further
investigation is needed.

Evidence-based Non-physical Treatments

This section outlines nine psychosocial or educational programmes which have

been shown in methodologically acceptable studies to produce at least some sig-
nificant behavioural gains when used with people with ASD. There is considerable
overlap in the kinds of methods used in most of these programmes. However, they
also differ in a number of ways, for example in the age range targeted, in the goals
of intervention and in the settings in which they may be delivered.

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Box 12.2 Points of method in efficacy studies

of interventions for autism
Participant groups should be:

Large enough to have statistical power.

e Fully representative of the group targeted by the treatment, avoiding sampling
bias.
e Reasonably homogeneous in terms of diagnosis, sex, age and ability; and, in
the case of studies using parallel designs, groups should be matched on factors
that might influence outcomes.

Interventions should be:

e Delivered in the same way to all participants, for example in terms of drug
dosage or the precise methods used in non-physical interventions (this is par-
ticularly important when several different people are involved in delivering a
psychosocial or educational intervention, perhaps across several different
schools or research centres: training may be required).
e Delivered by more than one teacher/therapist working with different individuals
(in non-physical interventions); and, in studies using a parallel design, the com-
mitment of those delivering the intervention under study should be no greater
than commitment to the comparison intervention.

Measures used to assess behaviour before and after intervention should:

e Relate clearly to the behaviours targeted.

e Be clearly defined and operationalised, so that different assessors all work to
the same standard.

Assessors (those evaluating behaviour before and after treatment) should:

e Not be involved in delivering the intervention.

e Be trained in rating behaviour on the outcome measures and in the coding
system used to enter ratings into a database; and assessor reliability should be
systematically checked by having more than one assessor rating a proportion
of the assessment sessions.

Applied Behaviour Analysis (ABA) ABA as a treatment for autism is based on

the principles of behaviourist learning theory as exemplified in the ‘Lovaas
model’ (Lovaas et al., 1989). Key features of this model are: (1) accurate and
objective observation and data-recording of an individual’s behaviour; (2) an
understanding of the immediate cause(s) of the behaviour — what precipitates
it and what maintains it; and (3) a step-by-step cumulative process to replace
maladaptive behaviour with adaptive behaviour by manipulation of the precipi-
tating and sustaining factors. Rewards such as verbal approval or small treats are

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Practical Issues

given for desired responses or approximations to such responses, with rewards

withheld in other circumstances.
ABA has for many years been used relatively successfully (short of a cure) with
young children with ASD (Herbert & Brandsma, 2002; Granpeesheh et al., 2009).
Although focusing at any one time on highly specific behaviours (e.g. increased
tolerance of eye contact; using a spoon to eat, instead of fingers), when used with
infants or young children over an extended period the treatment may be consid-
ered to constitute a comprehensive treatment model (CTM). However, ABA is
most successful when used in focused intervention practices (FIPs) with older
individuals, for example to ameliorate challenging behaviours or to increase the
use of verbal requests (Matson et al., 2011; Bishop-Fitzpatrick et al., 2014).
When used intensively with young children with autism, ABA is delivered one-
to-one by a trained therapist (or team of therapists) working in the child’s home.
This has some disadvantages. In particular, family life must be organised around
treatment sessions. In addition, the intensive use of trained professionals over an
extended period is expensive. Although many countries will now fund ABA or
other ABA-based treatments (see below), funds allocated may not be sufficient, or
not forthcoming (perhaps because a child has not yet been authoritatively diag-
nosed) and families may have to bear some or all of the costs. Intrusiveness and
expense are not issues for all families. ] have seen ABA-based treatment carried
out effectively with children in families where both parents are in full-time well-
paid work, and the employment of a therapist is actually less disruptive to family
life than a treatment requiring intensive input from one or more parent.
A more cogent objection to ABA when used in unmodified form with young
children with ASD is that it is essentially adult-led and imposed on a child.
Moreover, in the past, certain practices associated with ABA were strongly crit-
icised on ethical grounds. These practices were discontinued long ago, and ABA
therapist training now stresses the importance of establishing a positive rela-
tionship with the child being treated. Nevertheless, ABA remains essentially an
adult-led, controlling intervention.
Early Intensive Behavioural Intervention (EIBI) As its name indicates, EIBI is an
intensive form of ABA which, to be maximally effective, must be used early in
the child’s life (Klintwall & Eikeseth, 2014). It is delivered by trained therapists
usually working in the child’s home for at least 20 hours per week.
EIBI suffers from the same potential disadvantages as ABA (when used as a
comprehensive treatment for young children with autism). In particular, it is
expensive and risks being intrusive. However, descriptions of current practices in
the delivery of EIBI go a long way towards mitigating the essentially controlling
nature of ABA (see, for example, www.childautism.org-uk/ABA). EIBI is widely
available and the treatment of choice for many funding authorities as well as
families.
It is important to note that EIBI (and by association ABA) is evidence-based in
so far as a small number of group-based efficacy studies have produced mainly
positive findings. However, two comprehensive reviews of available evidence

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have concluded that results from these studies should be considered with caution
(Warren et al., 2011; Reichow et al., 2012). Moreover, claims that ABA/EIBI can
cure autism have not been substantiated (Bélte, 2014).
Functional Communication Training (FCT) FCT is a widely used behaviourally-
based focused intervention practice (FIP) for problem behaviours in nonverbal
individuals with or without ASD. The treatment, first described by Carr and
Durand in 1985, involves identifying situations in which a particular problem
behaviour occurs and analysing why the behaviour occurs — what the individual
achieves by, for example, hitting out, throwing a tantrum or biting their hand. The
individual is then provided with and trained to use a more acceptable way of non-
verbally communicating what they do not have the words to express, for instance
‘I’ve had enough’/‘I can’t do this’/‘Leave me alone’. There is ample evidence that
FCT is effective (see Kurtz et al., 2011, for a review of evaluative studies). It is also
ethical and safe, whereas some other ways of dealing with problem behaviours, for
example by physical restraint, are vulnerable to abuse.

Early Start Denver Model (ESDM) This CTM is designed for use with infants and
toddlers aged from 12 to 48 months. It uses a very systematic approach involv-
ing specific individualised objectives agreed with the family, and specified activ-
ities using structured teaching strategies broadly based on principles from ABA.
Progress is measured through ongoing data collection on each targeted objective.
As with EIBI, intervention using ESDM is only effective if carried out intensively
(a minimum of 15 hours per week and preferably more than 20 hours).
However, ESDM treatment differs from ABA/EIBI in certain critical respects.
Most importantly it is play-based, utilising the individual child’s interests and
preferences. Treatment is also relationship-based, in that it is delivered through
shared activities and interpersonal exchange, with an emphasis on positive affect.
It is generally carried out one-to-one, partly by a trained therapist working in a
clinic setting and/or in the child’s home, and partly by family members working
under the guidance of a therapist. ESDM treatment may also be delivered in small
group sessions, reducing costs.
The stated aims of ESDM treatment are to increase the child’s rate of normal
development in all domains, while simultaneously decreasing the symptoms of
autism. The rationale behind the intervention is that early intensive behavioural
stimulation can lead not only to behavioural change in a child with ASD, but
also to changes in brain growth and activity (Sullivan et al., 2014). ESDM treat-
ment has been shown to be behaviourally effective in one well-controlled group
efficacy study (Dawson et al., 2010) and in several methodologically acceptable
single-subject efficacy studies. Preliminary evidence of normalised brain activity
was reported by Dawson et al. (2012).
ESDM training manuals and training courses are now available in many lan-
guages all over the world, with therapist training, ESDM treatment and parent
support often being offered under the auspices of a university department which
also carries out research into ASD. There are numerous such departments in the

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US (e.g. Duke University’s Center for Autism and Brain Development, where
ESDM treatment and associated brain research are carried out); also in Canada
and in Australia (see Box 12.3). Research and practice in the autism field are less
well integrated in the UK, which is regrettable.

Box 12.3. An example of the integration of

applied research with services to individuals with
ASD and their families within a university setting
The Victorian Autism Specific Early Learning and Care Centre (V-ASELCC)
was established at LaTrobe University in Melbourne as a collaboration between
the university’s Autism Research Centre in the School of Psychology and Public
Health, its Community Children’s Centre (providing day-long care for young chil-
dren) and the Royal Children’s Hospital. V-ASELCC is funded by the Australian
Federal Government, and is involved in all of the following:

Early intervention using the ESDM (see main text). Treatment is delivered by
ESDM-trained professionals to small groups of very young children with ASD in
a specially designated wing of the Children’s Centre.
Parent support A key component of the ESDM is parent understanding and
collaboration, and training workshops and information sessions for parents are
held regularly at the Centre. Treatment targets for their child are agreed with
parents and progress is monitored jointly by parents and therapists.

Staff training Training courses for ESDM therapists are offered under the aus-
pices of the V-ASELCC. Training in the early detection of possible cases of ASD
is also offered to Maternal and Child Health nurses working in the community,
using the results of research carried out in the Autism Research Centre. Training
on the ADOS is also offered to community practitioners and researchers.

Applied research undertaken in the Autism Research Centre has not only
included studies contributing to methods of early identification (Barbaro et al.,
2013), but also studies evaluating methods of delivering ESDM treatment to
toddlers and preschoolers with ASD (Vivanti et al., 2014). Studies of ASD char-
acteristics and causes are also ongoing within the Autism Research Centre.

(With thanks to Professor Cheryl Dissanayake for her

assistance in drafting this account)

Pivotal Response Treatment/Training (PRT) PRT, like ESDM treatment, utilises

some of the principles of behaviourist learning theory as in ABA but in naturalistic
settings and using naturalistic forms of reward. When used as a Comprehensive
Treatment Model, the stated aims of PRT are also broader than those of either EIBI
or ESDM treatment in that the ‘pivotal’ areas targeted are those that are impli-
cated in a wide range of day-to-day behaviours. These include motivation and the
self-initiation of behaviour, responsiveness to multiple environmental cues, and

222
 Intervention

the self-regulation of emotional state (Koegel et al., 2006; Koegel & Koegel, 2012).
These pivotal areas of function are targeted with the aim of facilitating the child’s
development overall, but with particular reference to social, emotional and com-
munication abilities.
PRT also differs from the previously described treatments in that it is specif-
ically designed to be used consistently across a range of settings, promoting the
generalisation of gains in target behaviours. Thus, although PRT when used with
young children with ASD is described as first and foremost ‘family centred’, other
healthcare providers such as occupational therapists or speech therapists working
with the child are also involved in delivering the treatment, as are staff in any day-
care or preschool attended by the child.
Although the delivery of PRT involves training a broad range of individuals, it
has been shown that this can be done effectively and economically using a video
feedback training package (Robinson, 2011).
PRT has also been developed for use with older children with ASD in classroom
settings (Stahmer et al., 2010, 2012). It may also be used as an FIP, for example,
to improve joint attention skills (Vismara & Lyons, 2007).
Efficacy studies of PRT have produced generally positive findings (see the
review and critique by Cadogan & McCrimmon, 2015). However, most of these
studies were carried out with school-age children. PRT has not been widely used
with infants and toddlers (but see Steiner et al., 2013).
Learning Experiences: An Alternative Programme for Preschoolers and Parents
(LEAP) A key component of this programme, developed by Strain and Bovey
(2008), is that it is delivered in inclusive preschool settings, with children with ASD
learning in classrooms alongside typically developing preschoolers. Children attend
for 15 hours per week of classroom instruction provided by a trained teacher and
an assistant working with approximately 10 typically developing children and 3 to
4 children with ASD. A speech and language therapist, and sometimes an occupa-
tional therapist or physiotherapist, is commonly available to work with the chil-
dren in specially arranged classrooms designed to support child-directed play. The
primary goals of the curriculum are to expose children with autism to typical pre-
school activities and to adapt the typical curriculum for the children with autism
only when necessary. Social interaction with typically developing peers, peer mod-
elling and peer-mediated instruction are central to the programme, which does not
include one-to-one intervention. However, opportunities for systematic instruction
are part of the curriculum, and ABA-related teaching-—learning strategies are used
systematically, for example to prompt and reinforce targeted behaviours. Parent
involvement and parent training are included in the programme, with a view to
generalising behavioural gains from school to home.
There is a body of evidence supporting the effectiveness of LEAP. Most of the
positive evidence comes from single-case studies, although two group-based effi-
cacy studies also demonstrated effectiveness (Strain & Bovey, 2011; Boyd et al.,
2014). The demands on teachers and assistants delivering the programme are,
however, considerable, and there is some risk of loss of fidelity and teacher burn-
out (Coman et al., 2013).

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Practical Issues

Treatment and Education of Autistic and related Communication handicapped

Children (TEACCH) - Structured Teaching ‘Division TEACCH’ is an organisation
centred at the University of North Carolina, which offers a broad range of resources
and services to individuals with ASD or related problems, their families, and others
involved in the treatment, education and care of people with ASD throughout their
lives. The intervention known as Structured Teaching was the first of these services to
be developed many decades ago, and the principles of Structured Teaching are now
used in homes, schools, clinics and adult residential settings world-wide.
Structured Teaching utilises some of the principles of behaviourist learning
theory, as do other evidence-based treatments described above. However, the
TEACCH method differs from those previously described in that it is designed to
capitalise on two notable characteristics of people with ASD: first, their tendency
to develop and adhere to routines; and secondly, their relatively good ability to use
visual information as compared to difficulties in utilising auditory information.
Utilising rather than combating the autistic person’s preference for the familiar,
Structured Teaching is undertaken as far as possible in the same surroundings and
in the same manner following a familiar schedule. Tasks are as far as possible based
on the use of materials to be handled, and pictures are used to convey or support
instructions as to what is involved in any particular task. Visual supports are also
used to indicate sequences and schedules in daily life, for instance the timetable
to be followed on a particular day at school, or the sequence of actions involved
in making a cup of coffee. Visual prompts are used to support the development of
adaptive habits and routines, such as washing hands before a meal.
When used with young children in the home, tasks are generally designed to
increase daily-living skills following a developmental schedule. However, the
TEACCH Structured Teaching method is most widely used in educational set-
tings and in speech-language therapy or occupational therapy clinics, where very
specific competences, such as number concepts, matching written labels to pic-
tures or tieing shoelaces, are targeted. This treatment method therefore comes
into the category of a multi-purpose FIP, and evidence confirming the effective-
ness of Structured Teaching methods comes from studies with narrowly focused
targets (see, for example, Carson et al., 2008). A meta-analysis by Virues-Ortega
et al. (2013) showed that Structured Teaching should not, however, be considered
an evidence-based CTM. In Chapter 13 more is said about the broad TEACCH
approach to supporting individuals and families.
Augmentative and Alternative Communication systems (AACs) The best known
and, at the time of writing, the most widely used AAC is the Picture Exchange
Communication System (PECS) (Bondy & Frost, 2001; Frost & Bondy, 2011).
PECS was developed for use with nonverbal children or adults, including those
with autism (see Box 4.3 for an example of the successful use of PECS by a non-
verbal child with complex problems).
As its name suggests, the major aim of PECS is to promote and facilitate com-
munication. This is done using pictures, such as those illustrated in Figure 12.1.

224
 Intervention

something something's || don't want to

hurts —

i don't understand

Baa me
Ldecdoalek
tedod

miss someone too noisy | don't know

Figure 12.1 Examples of picture cards used in some augmentative and

alternative communication systems

In the first phase of treatment the link between a picture and what it stands for
may have to be established. Once this has been done, the individual is prompted to
pass the picture of a desired object, for example a juice drink, to a ‘communication
partner’, who immediately supplies the desired object. This is the first and most
critical step towards intentional communication. The ‘vocabulary’ of pictured items
is then gradually increased according to the individual's major wants and needs,
and communicative use of pictures is generalised by being used with different

225
Practical Issues

communicative partners and in different situations. For learners who progress

beyond the use of single pictures, phrases such as ‘I want’ are first introduced, and
minimal ‘sentences’ such as ‘I want juice drink’ are amplified or varied as addi-
tional verbs, prepositions and adjectives are introduced (see Figure 12.1). The ability
to respond to requests or questions from a communication partner represents the
most advanced stage of communication therapy covered by PECS. Once commu-
nication using pictures has been established, a further aim of PECS is to promote
the individual’s use of speech. However, although PECS may be considered an
evidence-based treatment for communication impairments, whether related to
autism or in individuals with other conditions such as learning disability or verbal
apraxia without autism, it has proved less successful in promoting speech (Flippin
et al., 2010; Lerna et al., 2014).
Most other forms of AAC are designed mainly to overcome problems of speech
production, rather than impaired communication per se. However,*a simplified
signing system such as Makaton may be used initially to promote and facilitate
communication (see, for example, Scattone & Billhofer, 2008). Makaton clearly
has an advantage over PECS in so far as it does not involve a physical set of
symbols. However, individuals with verbal dyspraxia or related forms of motor
co-ordination problems may find signing difficult (Gernsbacher et al., 2008). In
addition, sign-based communication requires that communication partners are
conversant with the system being used.
The use of computers and keyboards using pictograms is a relatively long-
established form of AAC for people with major physical disabilities.2 Most
computer-based systems now incorporate a speech generation device (SGD) of
the kind used by the cosmologist Stephen Hawking, and are available in hand-
held form (tablets). There is a burgeoning array of apps designed to promote
communication using electronically generated speech (Mirenda, 2014). No doubt
developments in this area will continue, including practitioner and user reports of
the usefulness of individual apps.
At the time of writing, one study comparing the usefulness of PECS, signing
and a speech generation device to promote and facilitate communication in
children with ASD has been reported (Van der Meer, Sutherland et al., 2012).
The most interesting finding from this preliminary study was that the chil-
dren taking part had different preferences for the AACs offered them, and all
made gains in communication when treated using their preferred option. (For
a discussion of the need to determine what treatment works best for each indi-
vidual, see Stahmer, Schreibman, & Cunningham, 2011).
Cognitive behavioural therapy (CBT) CBT is a highly structured, focused inter-
vention practice (FIP) widely used for the treatment of mental health disorders

“In the mid-1980s I shared an office with a psychologist who was working with a man with a very severe form of cer-
ebral palsy that made speech or signing impossible. This man was thought to be moderately or even severely learning
disabled until supplied with a computer and a set of icons as a keyboard which he instantly mastered, proving himself
to be of entirely normal intelligence. I can't recall how he was enabled to operate this AAC, but I do remember the
mixture of elation (at having enabled this man to communicate) and horror (in imagining his previous ‘locked in’
state) felt by my colleague.

226
 Intervention

in the general population, that has been used successfully to treat some specific
problems in high-functioning adolescents with ASD (Danial & Wood, 2013).
Problems for which there is evidence of effectiveness are anxiety (Sukhodolsky
et al., 2013; Ung et al., 2015) and — provisionally — obsessive behaviours (Vause
et al., 2014). A meta-analysis of studies using CBT with autistic adults showed
that this form of treatment can be used successfully to reduce mental health
problems, but is not effective in increasing social or communicative behaviours
(Binnie & Blainey, 2013).

Borderline Evidence-based Non-physical Treatments

Non-physical CTMs falling into the ‘borderline evidence-based’ category, as

defined above, include several long-established treatment methods for which there
is some limited evidence of effectiveness when used with toddlers and young chil-
dren with ASD.
One such intervention is the Walden Toddler Program (McGee et al., 1994).
This programme was developed as one component of services offered by Emory
University’s Autism Center, which provides information, resources and support
to families of children with ASD aged 0-5 years. The Walden Toddler Program
uses a modified form of ABA called ‘incidental teaching’, which capitalises on
the learner’s personal interests and preferences across a range of settings. When
used in childcare settings, treatment is delivered within an inclusive group of chil-
dren with and without autism (cf. LEAP, described above). Parents are trained in
delivery of the programme at home, ensuring that the treatment is maintained
across settings and is intensive. The Walden Toddler Program aims to promote
verbal language, social development and independent daily living skills, and an
efficacy study by McGee et al. (1999) suggested that these aims were unambigu-
ously achieved. However, the methodology used in this study has been criticised
(Stahmer & Ingersoll, 2004).
Other borderline evidence-based treatments include several that focus on
treatment through child-led play and positive interactions between the child
and the therapist, parent(s), teachers and peers who may be involved in deliv-
ering the treatment. Examples of treatments falling within this broad category
include the following.
Developmental Individual-difference Relationship-based (DIR)-Floortime
approach (Greenspan & Weider, 1999, 2009; see also Hess, 2013). A handful
of efficacy studies of this treatment have been carried out, with some positive
findings. However, a review of these studies found them to be methodologically
weak (Mercer, 2015).
The Early Social Interaction (ESI) method (Wetherby & Woods, 2006) was devel-
oped in response to the National Research Council’s (US) (2001) recommendation
that ‘intensive’ treatment for infants and very young children with ASD should be
interpreted as involving at least 25 hours of programmed teaching/learning every
week and, by implication, a collaboration between community-based services and
parents/carers. The way in which this collaboration is established and delivered

227
Practical Issues

is critical, as interestingly discussed and demonstrated in an efficacy study of ESI

(Wetherby et al., 2014).
The Social Communication, Emotional Regulation, Transactional Supports
(SCERTS) intervention (Prizant et al., 2006) has been assessed in one evalua-
tive study (Molteni et al., 2013) which reported some provisional evidence of
effectiveness. \
Similarly, the Relationship Development Intervention (RDI) programme (Gutstein,
2000) has only been evaluated in one study (Gutstein et al., 2007) reporting pro-
visional evidence of effectiveness.
The Son-Rise Programme, sometimes known as the Option Method (Kaufman
& Kaufman, 1976), has proved a survivor. This intensive, home-based treatment
has generally had a bad press, mainly because of its claim to have achieved a cure
(of the originators’ son),? but also because of the excessive demands it puts on
families (Williams & Wishart, 2003). However, one well-designed but small-scale
efficacy study demonstrated positive effects, leading the authors to conclude that
further evaluation is indicated (Houghton et al., 2013).
The Children’s Toddler School (CTS) intervention is entirely community-based
using an inclusive childcare setting with a teacher—child ratio of 1:3 (Stahmer &
Ingersoll, 2004). Treatment methods are eclectic, comprising a mix of incidental
teaching, pivotal response training (PRT), structured teaching (TEACCH), the
picture exchange communication system (PECS), and DIR/Floortime. A recent
quite large-scale efficacy study by Stahmer, Akshoomoff, & Cunningham (2011)
produced evidence of gains in language, adaptive behaviour and overall develop-
mental level in children who had attended the CTS for at least eight months.
The Hanen More Than Words Programme (Sussman, 1999; Weitzman, 2013),
like several of the intervention programmes mentioned above, was developed
within a university department offering a range of services to children with ASD
and their families. Although well known and quite widely used, this parent-
skilling intervention has not been well researched (but see Carter et al., 2011).
The Hanen Centre’s more recently developed Takes Two to Talk programme
suffers from the same lack of supportive evidence.
The Early Bird treatment programme (Shields, 2001) is designed to support
parents with a child aged 4;0-8;0 years to develop their child’s social and commu-
nication abilities. The programme is run under the auspices of the National Autistic
Society in the UK which organises training and workshops for professionals and
parents, as well as providing written and video support materials. The programme
utilises methods and materials from TEACCH and from PECS, and is based on
the ethical principles articulated by the Society as ‘SPELL’ (standing for Structure,
Positive, Empathy, Low arousal, Links). Early Bird is widely used by speech-language
therapists and preschool special needs teachers in the UK working collaboratively
with parents. Unfortunately, no studies of its effectiveness have been published in
the peer-reviewed literature.

5A relative of mine who was involved in the treatment of the Kaufmans’ son confirms the claim of what would now
be referred to as an optimal outcome rather than a cure.

228
 Intervention

The Preschool Autism Communication Trial (PACT) is a parent-skilling interven-

tion developed by a multidisciplinary team of professionals working with young
children with autism in the UK. In contrast to the untested Early Bird programme,
PACT has been rigorously evaluated at various stages. Some early gains were
reported (Green et al., 2010), and despite doubts concerning its cost effectiveness
(Byford et al., 2015), PACT has recently been shown to have significant posi-
tive effects on longer-term outcomes (Pickles et al., 2016). Although placed here
under the heading of ‘Borderline Evidence-based Treatments’, therefore, it may
well be the case that PACT, once more widely used and tested, moves into the
group of ‘Evidence-based Treatments’.
Various forms of psychotherapy may be used with the aims of improving
socio-emotional interaction and communication or treating mental health dis-
orders and problem behaviours across the age range of individuals with ASD
(El-Ghoroury & Krackow, 2011). Psychoanalytic understandings of autistic behav-
iour did not die with Bettelheim (1967; see Chapter 1), but have continued to
be argued for by, in particular, Tustin (1981/1995; see also Alvarez, 1996; Alvarez
& Reid, 1999), and psychotherapeutic treatment models remain dominant in
France. Play therapy is the treatment of choice when working with young children
(see, for example, Josefi & Ryan, 2004). ‘Acting out’ through drawings (Rhode,
2009) or fantasy play (Gould, 2011) may be used with school-age children (see
Figure 12.2). A variety of ‘talking therapies’ may be used in the treatment of high-
functioning adolescents and adults (see the special issues of the Journal of
Contemporary Psychoanalysis and Psychoanalytic Inquiry, both published in 2011).
Unequivocal evidence of the efficacy of psychotherapeutic approaches to treating
people with ASD is not available. Cumulatively, however, individual case reports
published over very many years suggest that this approach to treatment does have
positive outcomes for certain individuals at various life stages.
Comment
Many of the treatments mentioned in the above subsection are marketed vigor-
ously (and in good faith) by their proponents, despite the fact that there is only
fragile evidence, or no evidence, to support claims made for their effectiveness.
All the treatment methods in this borderline category may be effective, safe
and cost-effective, either as CTMs or as FIPs. They may work well for sub-
sets of individuals with ASD. There may be successful outcomes on some key
measures but not others. But these are unknowns (except possibly in the case
sed MC A)
It is worrying that several of the above methods are widely used despite
(at the time of writing) not being securely evidence-based. There are, in addition,
numerous other psychosocial, behavioural and educational methods that are not
mentioned here. Some of these might fall into the ‘borderline evidence-based’
category, though space precludes their mention. Others, however, could be
described as ‘fad’ treatments with no clear theoretical basis and no likelihood of
effectiveness (Foxx & Mulick, 2015).

229
Practical Issues

No,
Can Pre
You Picture ane
the Wall.

A
BRD \i\ales
ek,
1o = 7

Figure 12.2 An illustration of how drawing may be used to externalise and

understand feelings as a means of increasing behavioural self-control (with
thanks to Lizzie and family)

230
 Intervention

Evidence-based Physical Treatments

There are, at the time of writing, no securely evidence-based physical Compre-
hensive Treatment Models for autism. As suggested by LeClere and Easley (2015:
393), this may be because:
.-- Pharmaceutical companies have generally shied away from investing in treatments for
autism ... In particular, the pharmaceutical industry has shown risk aversion with regard to
conducting research in autism, a disorder with a hazy pathophysiology, a high level of heter-
ogeneity, few clear biomarkers, and poorly developed outcome measures for clinical studies.

However, a number of medications targeting specific problem behaviours in ASD

have been approved for cautious use by several of the national advisory/licensing
authorities (see McClure, 2014, and LeClerc & Easley, 2015, for reviews). These
include the following:

Melatonin has been found to be effective for the treatment of sleep problems in children
with ASD, preferably to be used only if behavioural interventions have failed, and then
preferably in combination with a behavioural programme.
Risperidone and aripiprazole (both antipsychotics) have been approved by the FDA for the
treatment and management of irritability, challenging behaviour and self-harm. Caveats
concerning the use of these drugs include advice against using them for children; the need
to ensure short-term use only; and the need to monitor individuals taking these drugs to
ensure that adverse side-effects (of which several are common) do not outweigh behav-
ioural benefits.

Methylphenidate (a stimulant drug marketed under the brand name Ritalin) is cautiously
approved by some but not all national agencies for the treatment of comorbid ADHD.
Caveats here are that this drug is effective only for some individuals; also that there is a
considerable risk of a range of adverse side-effects (McClure, 2014).
Anticonvulsants and antidepressants (including fluoxetine) are recommended strictly
for use to control, respectively, any epileptic or mood disorders (including anxiety and
obsessive behaviours) that may co-occur with ASD.

Borderline Evidence-based Physical Treatments

Two forms of treatment targeting ASD-specific behaviours are currently under

fairly intensive investigation with some promising, but as yet inconclusive, results.
These treatments are as follows:

Oxytocin medication may prove useful to enhance social engagement (Liu et al., 2012;
Gordon et al., 2013; but see also Dadds et al., 2014). This treatment has not as yet been
approved by any of the national vetting agencies (McClure, 2014).

Transmagnetic stimulation (TMS) involves direct stimulation of the brain designed to

correct a postulated imbalance between excitatory and inhibitory neural activity (as
described in Chapter 8) and to correct ‘aberrant synaptic plasticity: In a review of avail-
able studies, Oberman et al. (2015) concluded that there is not yet enough evidence to
support the use of TMS as a treatment for ASD, stressing the need for further research.

231
Practical Issues

Non-evidence-based Physical Treatments

Untested or inadequately tested treatment methods

Some argued-for treatments are based on purely anecdotal evidence. More often,
claims for a treatment are made on the basis of efficacy studies that are method-
ologically inadequate. Many such treatments might be described as falling within
the group of complementary and alternative medicines (CAMs), sometimes
referred to as alternative and allied healthcare (AAH).
It is important to stress that if any currently untested, or inadequately tested,
interventions for ASD, or for specific facets of ASD-related behaviour, were
rigorously evaluated and found to be safe, effective and cost-effective, that treat-
ment method would be recommended by the relevant advisory and licensing
authorities. To give just one example: acupuncture, which is widely used in
China as an intervention for autism, has been subjected to a small number of
properly conducted efficacy studies, with some evidence of effectiveness (Cheuk
et al., 2011; Lee et al., 2012). Although at the time of writing this evidence
is inconclusive, if further well-controlled efficacy studies were to strengthen
the already promising evidence, acupuncture as a treatment for certain facets
of ASD-related behaviour would be accepted as evidence-based and almost
certainly licensed for use.

Treatments that have been evaluated with negative outcomes

There are, in addition, some treatments that have been assessed in methodolog-
ically rigorous studies and shown to be ineffective and/or unsafe. Some of these
treatments are listed in Table 12.1.

Table 12.1. Physical treatments that have been reliably shown to be ineffective
and/or unsafe

Treatment Effectiveness and safety

Chelation Ineffective (Davis et al., 2013). Unsafe (Brent, 2013; NICE, 2013)
Gluten or casein-free diet Ineffective. Many undesirable side effects (Mulloy et al., 2010)
Hyperbaric oxygen therapy Effectiveness unproven (Ghanizadeh, 2012; Halepoto et al., 2014).
Unsafe (NICE, 2013)
Holding therapy No objective evidence of effectiveness; ethically dubious and
possibly unsafe (Chaffin et al., 2006; Mercer, 2013)
Vitamin and mineral Probably unjustified and may lead to excess intake (Lundin & Dwyer,
supplements — various 2014; Stewart et al., 2015)
Secretin injections Ineffective (Williams et al., 2012)
Sensory integration therapy Ineffective (Lang et al., 2012)
Auditory integration therapy Ineffective (Sinha et al., 2011; see also NICE, 2013)

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 Intervention

Unproven Does Not Necessarily Mean Useless

Despite the lack of evidence, or predominantly negative evidence, concerning the

effectiveness of many widely publicised treatments for autism, both non-physical
and physical, it may be that some such interventions are useful for some but not all
individuals with ASD. Given the enormous diversity among individuals with ASD,
this would not be surprising (Herbert & Weintraub, 2013; Stahmer, Schreibman, &
Cunningham, 2011). However, more research is needed to identify which subsets
of individuals either do or don’t benefit from a particular form of treatment.
In addition, some interventions claiming to moderate autism-related behaviours
may not achieve their stated aim, but do have demonstrably positive effects on
parents’ interactions with their child (Green et al., 2010; Carter et al., 2011). This
is likely to be of benefit to the child in the longer term.
Placebo effects are also likely to be common (Masi et al., 2015). All of us are
susceptible to placebo effects, especially when it is particularly important to us to
feel that we are doing something to ameliorate a major health problem (our own
cancer, our child’s autism). We need to feel in control, as far as possible, and feeling
at least partially in control can make us feel better, psychologically and sometimes
physically. The way that parents feel about their child has consequences for the
child — any child, not just a child with ASD. Reducing the feelings of helplessness
and desperation that some parents feel in the early years of caring for an autistic
child can have indirect beneficial effects for the child. If an unproven treatment
method is harmless and believed by parents/carers to be efficacious, and especially
if no evidence-based treatment is readily available or affordable for that family,
then it could be counter-productive to argue against use of that treatment.
Making these points is not intended to legitimise the continued use of non-
evidence-based treatments, let alone any that have been shown to be unsafe or
to have significant undesirable side-effects, or to be ethically questionable. There
are, now, evidence-based interventions for most facets of ASD that are effective,
safe, ethically acceptable and cost-effective. These forms of intervention should
be preferred unless or until any currently unproven treatment has been reliably
shown to meet these criteria.

FUTURE DIRECTIONS
It is an exciting time to be writing about interventions for people with ASD, in
that some treatment methods can at last be properly described as effective, safe
and ‘evidence-based’. In particular, although optimal outcomes are rare, there is
evidence that very young children with an early diagnosis of ASD can benefit
from certain well-specified treatment programmes delivered intensively. Perhaps
most exciting is the possibility that early intensive treatment can capitalise on
brain plasticity and reverse or compensate for abnormalities of brain growth

233
Practical Issues

and function that originate in the infant and toddler years. It is also encouraging
that there are now various evidence-based interventions, some physical, some
non-physical, that are effective and safe for treating many of the problem behav-
iours and mental health disorders that frequently co-occur with ASD, usually in
older children or adults. Despite this exciting progress, there are notable gaps in
the interventions literature, as identified below. ‘
It has not to date been demonstrated that the positive effects of early intensive
non-physical treatments are sustained and correlate with long-term outcomes.
The claim that early intensive treatment can reverse or compensate for abnor-
malities of brain growth and function has yet to be proved, and the theoretical
bases for linking specific treatments (including potential physical treatments)
with brain changes have not been clearly established.
There are no securely evidence-based physical treatments for the SEC impair-
ments and RRBs that are diagnostic of ASD, although two such “interventions
(oxytocin and transmagnetic stimulation) show some promise.
Neither of the two major specifiers, learning disability and language impair-
ment, have received much attention in the literature on ASD: Why do they so
commonly co-occur with idiopathic ASD? Why are they so closely linked? And
how might they be prevented, cured or treated? Preventing the co-occurrence of
these major specifiers could help to meet the challenge of keeping autism-related
genetic variations in the gene pool, while alleviating the distress suffered by indi-
viduals with low-functioning forms of ASD and their families, and mitigating the
heavy demands that low-functioning autism in particular makes on State support
and provision.
It is to be hoped that future research in the field will extend to answering the
above questions.

SUMMARY
‘Intervention’ is defined here as including methods of prevention, cure or treat-
ment of autism. Prevention and cure aim to reduce the incidence and prevalence,
respectively, of autism in the population. Treatment of ASD-related behaviours
and associated conditions aims to improve quality of life for affected individuals
and to reduce demands on families, local services and the State.
Arguments for and against attempting to prevent or to cure autism are outlined,
including arguments made by members of the neurodiversity movement. It is con-
cluded that these arguments hold in so far as it would be disadvantageous to the
species to lose from the gene pool those genetic variations that underlie facets of
autism predisposing individuals to high achievement in certain fields. However,
the argument made by some of the more extreme members of the neurodiversity
movement against treating those facets ofASD-related behaviour and comorbidi-
ties that compromise quality of life is not accepted. The challenge is, therefore, to
ensure the persistence in the gene pool of those variations predisposing individuals

234
 Intervention

to certain kinds of academic success while alleviating the distress and difficulty
affecting the large majority of individuals with ASD.
Potential methods of prevention are outlined and briefly discussed, including
genetic counselling (which could impoverish the gene pool); abortion of identi-
fied prodromal ASD (which would be highly controversial if indeed feasible; and
would also risk impoverishing the gene pool); and the identification and removal
of environmental factors causing or significantly contributing to the development
of ASD.
Regarding methods of cure, it is generally agreed by experts in the field (includ-
ing major organisations representing parents) that there is currently no 100 per
cent successful cure for autism. The desperation of many parents to find a cure for
their child’s autism is recognised as the main factor creating a profitable market
for charlatans selling untested and sometimes potentially dangerous ‘cures’ on the
web or in popular media. Encouragingly, however, there are now some authorita-
tive reports that ‘optimal outcomes’ can be achieved in at least some individuals
given intensive behavioural/psychosocial/educational treatment from very early
childhood. Such individuals have some residual autistic traits, but these do not
cause any unusual distress or difficulty such as would warrant a diagnosis.
With regard to treatments short of a cure, there have over the past 50 years
been dozens, if not hundreds, of suggested treatments for autism, or for fac-
ets of autism, or for comorbid conditions associated with autism, few of which
are evidence-based in the proper sense of the phrase. To be recognised as
‘evidence-based’, a treatment — whether for autism or any other disease or mental
health disorder — must have been reliably shown to be effective, safe and cost-
effective in methodologically stringent efficacy studies. Some frequently used
efficacy study designs and points of method of particular relevance in efficacy
studies of autism are outlined.
Using distinctions between Comprehensive Treatment Models (CTMs) and
Focused Intervention Practices (FIPs), and between non-physical and physical
treatments, the best-established evidence-based CTMs and FIPs for autism-related
problems are then individually described. The most effective of these treatments
are non-physical intervention programmes used from as early as 12 months of
age and delivered intensively under the auspices of specifically trained practition-
ers. All use some of the principles exemplified in Applied Behavioral Analysis
(ABA). However, the majority go beyond ABA in specifying the use of child-led
activities, the active involvement of parents/carers, and systematic collaborative
delivery across different settings, including inclusive settings. Elements of these
effective treatment methods can be maintained through school into adulthood,
where appropriate.
Some ‘borderline-evidence-based’ treatments are then more _ briefly
described. Finally, treatments that have been evaluated for effectiveness, safety
and cost-effectiveness but found to fail on one or more of these criteria are
identified. Emphasis is placed on the importance of knowing which interven-
tions are authoritatively described as unsafe, so that use of these treatments
can be avoided. Treatments that are safe but which have been authoritatively

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judged to be ineffective should not, however, be dismissed out of hand. This is

because they may be useful for some but not all individuals with ASD, and/or
they may have useful effects other than those predicted in efficacy studies. In
particular, they may have useful placebo effects directly or indirectly benefit-
ting the autistic individual being treated.
In the short section headed ‘Future Directions’ it is recognised that there are
still major gaps in our knowledge of how to treat, cure or selectively prevent ASD,
and that these major limitations need to be addressed in future research.

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INCLUSION
The Principle of Inclusion

FAMILIES AND CARE

Roles
Sources of Stress
Support Needs

OTHER CARE PROVIDERS

Substitute Care for Children
Residential Arrangements for Adults

ACCESSING SERVICES AND RIGHTS

Services and Opportunities
Human Rights

SUMMARY
Practical Issues

AIMS
The aimsof this chapter are to provide an introduction to the large and complex
topicof care for people with ASD in the context of the principle of inclusion, and
to demonstrate that, while examples of good practice can be cited, the ideals of
inclusionare not often realised in practice. —

INCLUSION
The Principle of Inclusion

Inclusion is used in this chapter in the broad sense of the moral right of every
person to be included as a valued member of their society and not discriminated
against because of difference (Renzaglia et al., 2003). According to the principles
of normalisation (Nirje, 1969), from which the concept of inclusion developed,
people with disabilities should be enabled to have lives as similar as possible
to those of people without disabilities; they should be enabled to achieve good
quality of life; and they should have the same human rights as people without
disabilities. The concepts of both inclusion and normalisation take as their starting
point that diversity is to be welcomed as enriching to communities, and provision
should be made for this diversity in schools, workplaces and elsewhere. The more
recently evolved ‘neurodiversity movement’, referred to in the previous chapter,
reasserts these principles.
In this chapter the principle of inclusion sets the standard for identifying the
care needs and rights of people with ASD, and for judging the quality of the
provision made. According to current ideals in most developed countries, all mem-
bers of society, including those with disabilities, should be provided with, or have
access to, the following:

e Food, shelter, warmth, protection from harm.

e Emotional and social stimulation and support.
e Opportunities for physical, mental and social activity fostering the development and mainte-
nance of capacities and skills.
e Health care, education, and employment or financial support as of right, and access to
social services, financial and legal advice and representation as needed.

In addition, there should be recognition of the following rights:

e The right to self-determination in matters of care and daily living.

e The right to be valued and respected on equal terms with others.

In what follows, the provision of care for people with ASD is considered under
three main headings. First, support for families caring for someone with ASD; sec-
ondly, residential arrangements and the provision of care outside the family home;

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and thirdly, access to the services and rights listed under the bullet points above.
Generalisations are necessarily made, which may not hold true for all countries
and regions. Terms such as ‘government’, ‘State’ (with upper case initial letter,
referring to a country; with lower case, referring to subregions of, for example,
Australia or America), ‘local authority’, ‘public service’ are used variously and
loosely to indicate the likely involvement of statutory authorities of one kind or
another, while recognising that what is arranged and paid for by government-
related authorities in one country or region may not be the responsibility of
government-related authorities everywhere. For this reason, references to
nation-specific laws or practices are generally avoided. The examples of good prac-
tice in caring for people with ASD and their families that are quoted are, however,
mainly examples of provision in the UK — because these are the services I know
about, not because they do not exist elsewhere.
In the final section of this chapter, which is also the final section of the book, the
extent to which the ideals of inclusion have been achieved for people with ASD
will be considered.

FAMILIES AND CARE

Roles

Ensuring that an individual with ASD receives the various sorts of care they need
and to which they have a right is almost always critically dependent on members
of the individual’s family.!
Parents (or those undertaking the parental role(s)) directly provide for the sur
vival needs of children, and sometimes also of dependent adults (see the first
bullet point above). With other family members they also contribute directly
and significantly to the provision of quality of life needs (second and third bullet
points), although external agencies also have a role here. Health care, interven-
tion and education, etc. (under the fourth bullet point) are generally provided by
agencies outside the family. However, parents are likely to be the channel through
which these services are accessed and monitored. Parents and other family mem-
bers may also be involved in delivering health care and intervention to children
and dependent adults with ASD, either under the direction of professionals or as
initiated by themselves. Finally, it is the parents who bear the brunt of the stigma-
tising attitudes of society and who fight the battles on behalf of their offspring for
recognition of them as valued individuals.
Having a child with ASD introduces unusual stresses into a family (Hayes &
Watson, 2013; Nicholas & Kilmer, 2015), and if a family breaks down, the child’s

'The term ‘family’ is taken to include adoptive, long-term foster and step-families; nuclear families, single-parent fam-
ilies, families based on long-term partnerships between same sex couples, and families in which grandparents or other
non-parent family members are the major carers. This discussion will, however, use the terms ‘parents’, ‘mother’ and
‘father’ as conventionally understood when referring to research, most of which has focused on biological families.

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Practical Issues

or dependent adult’s access to all the above forms of care is jeopardised. It is there-
fore important to identify these sources of stress so that appropriate support can
be provided. Supporting families is thus a way of supporting individuals with ASD
and ensuring that their care needs are met.

x Sources of Stress

Parents
Sources of stress on parents include:

e The time, attention and energy needed to care for the disabled family member.
e Financial costs, often aggravated by loss of earning power.
e Loss of normal family life and leisure activities; changed and disrupted relationships among
family members. Ps

These sources of stress may be common to all families caring for a disabled child.
However, caring for a child with ASD has been shown to be more stressful, gen-
erally speaking, than caring for children with other disabilities (Estes et al., 2009;
Hayes & Watson, 2013). Factors that may contribute to this include:

e Behaviour problems including challenging behaviours.

e Lack of emotional responsiveness and poor nonverbal communication.
e Confusion about the nature of autism and its causes, the unpredictability of its developmen-
tal course and outcome, and controversy concerning the efficacy of intervention methods.
e The fact that autism falls somewhere between a mental health disorder and a learning dis-
ability, aggravating problems of access to provision.

Despite the numerous sources of stress, many families adjust and cope well, show-
ing great resilience in the face of problems associated with caring for a child with
ASD (Bitsika et al., 2013). The experience of stress may diminish over time, as
family members individually and jointly develop strategies for coping with care
for the child with ASD, and with changed family relationships (Gray, 2002). Some
individuals with ASD become easier to relate to as they get older, achieving a
degree of understanding of others’ needs and becoming able to give back not just
by being themselves, but in intentional ways. I recall the relationship between a
single mother and her adult, moderately learning-impaired autistic son, which was
in many ways reciprocal. He addressed her as ‘dear’, helped with the shopping and
made cups of tea, telling her to put her feet up while he did so.
Having said this, a proportion of parents succumb to the stresses, especially
in the shorter term, becoming clinically depressed or anxious, or experiencing
somatic disorders, partly in response to the difficulties inherent in caring for
their child, but also because of the effects on other members of the family
(Hastings, Kovshoff, Ward et al., 2005; Montes & Halterman, 2007). Mothers
and fathers tend to develop different coping strategies, some of which are more
successful than others in maintaining a sense of wellbeing (Hastings, Kovshoff,
Brown et al., 2005). Personality traits that have been shown to be protective

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against the effects of stress include ‘optimism’, ‘hardiness’ and ‘resilience’

(Weiss, 2002; Greenberg et al., 2004; Bitsika et al., 2013). Other factors that
have been shown to reduce vulnerability to stress include the presence of a
supportive partner or other close family member, and strong friendship groups
(Bromley et al., 2004; Hare et al., 2004). A feeling of being in control without
having sole or main responsibility can also be protective (Dale et al., 2006), as
is secure religious faith (Tarakeshwar & Pargament, 2002).
Siblings
Siblings of children with ASD are also significantly affected by having a child
with autism in the family. The few studies of siblings that have been carried out
suggest the experience can have both positive and negative effects (Kaminsky
& Dewey, 2002; Petalas et al., 2012; Chan & Goh, 2014). This is reflected in
Box 13.1 which reproduces some of the verbatim responses of siblings to infor-
mal questioning about their experiences of having a brother or sister with ASD.
Several first-hand accounts of life with an autistic sibling can be found in the
literature (e.g. Konidaris, 2005; Barnhill, 2007), and some practical advice for
parents concerning siblings can be found in Ives and Munro (2002). Ariel and
Naseef (2005) bring together accounts by various family members, including
parents, siblings and grandparents, of their experiences of having someone with
ASD in the family.

Box 13.1 Siblings’ reactions to having a

brother or sister with ASD
Answers to the question ‘What is the most difficult part of having a brother/sister
with ASD?’ included the following:
‘Trying to explain to other people what his problem is, ’cos he looks normal.’
‘Because he’s autistic | have to help my mum more than | might otherwise,’
‘You try to play with her and she doesn't like it, and then she gets in a mood
‘cos she doesn’t get it. She gets angry with herself. And she gets angry with
everybody else.’
‘If you have a guest he won't take that into account. He'll just carry on shouting.
It’s quite embarrassing really. Quite often you don’t want to have people around,
’cos when he’s near, you just don’t know what will happen.’
‘If | could do something he doesn't like, like play sports or read, it would be all
right. But he wants everything the way he likes it. If he’s not interested in some-
thing, | have to stop it’
Answers to the question ‘What is the best part of having a sibling with ASD?’
Four of the 14 siblings questioned could think of nothing.
Six mentioned the good nature of their brother or sister, describing them as ‘fun,
‘funny’ or ‘loving; or described playing and doing things together.
One said that she felt she had grown more mature and understanding as a
result of having a sibling with ASD.
(From Mascha, K. (2005), PhD thesis, University of Warwick)

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Practical Issues

Siblings often take over from their parents the major role of overseeing the
continuing care of an adult brother or sister with ASD. In the remainder of this
chapter, when care of an adult is discussed, the term ‘parent’ should be understood
as shorthand for ‘the responsible family member’.

Support Needs

Post-diagnosis The period following diagnosis of any chronic childhood disa-

bility is one of particularly acute distress and family disturbance. A group of par-
ents that included parents of children with ASD reported that following their
child’s diagnosis they experienced ‘depression, anger, shock, denial, fear, guilt,
grief, confusion, and despair’. These feelings were associated with ‘uncontrolla-
ble crying, sweating, headache and stomach-ache, trembling, and loss of appe-
tite’ (Heiman, 2002).
Parents’ need for support is therefore acute immediately post-diagnosis, includ-
ing a need for information, the chance to talk and to express feelings, and advice
on treatment methods as well as practical strategies to solve immediate problems
and to promote development. An example of good practice in responding to these
needs is described in Box 13.2.
Ideally, all aspects of support post-diagnosis should be co-ordinated, with a
range of professionals working as a team, as in the example outlined in Box 13.2,
or as exemplified in ‘Family-Centred-Care’ programmes in Canada (Hodgetts
et al., 2013; Christon & Myers, 2015). In the US, any child under the age of 3;0
years with a recognised disability qualifies for an Individual Family Service Plan
to ensure early intervention and family support. Where an integrated service such
as those described above is not available, a Case Manager or Key Worker may be
appointed to ensure that a family’s needs are met, and to co-ordinate input from
different professionals and service agencies. Unfortunately, despite some good pro-
vision being in place, many parents report that they felt abandoned post-diagnosis
(Selimoglu et al., 2013; Crane et al., 2015).
During childhood During the years in which a child with ASD is growing up
within the family there are particular needs associated with enabling the family
as a whole to prosper. The provision of occasional care for the affected child
outside the family is particularly important, allowing the rest of the family
respite from the caring role. Occasional care may take the form of after-school,
weekend or school holiday play and activity groups, short-term residential res-
pite care, or befriending schemes whereby a trusted individual undertakes to
look after the child in the home or to take them out on a regular basis. Other
family needs during this period include support groups for siblings. These are
often organised by local groups of parents who have banded together to support
each other, to lobby on behalf of their children, and to plug some of the gaps
in formal provision.
Caring for a dependent adult A study by Anderson et al. (2014) showed
that over 87 per cent of young people with ASD were living with parents

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Box 13.2 An example of good practice in

supporting parents of young children with ASD
post-diagnosis: Leicestershire County Council’s
(UK) Autism Outreach (Early Years) Service
The Autism Outreach Service’ employs a team of specialist teachers and thera-
pists to work with parents, extended families and schools to achieve the following
stated aims:

To help parents and families make sense of and come to terms with the nature
of their child’s difficulties.
To help parents to understand their child’s autism and to inform them about
support services available.

To give information about voluntary organisations that may offer help to the
family.

To help parents to develop their child’s skills, especially in communication and

social interaction.

To help parents understand and manage any challenging behaviours in their

child.
To liaise with other services that may be involved with the family and to inform
parents about educational possibilities for children with autism in their area.

To provide specialist support and training to parents in the period after diagno-
sis so that families can develop their own skills.

To work in partnership with parents so that children with autism reach their full
potential.

To offer support and training with regard to Autism Spectrum Disorder to staff in
preschool settings and receiving schools.
(From www.leics.gov.uk/autism, with thanks to the Autism
Outreach Manager for permission to include this information)

in the years immediately following their years in formal education. This per-
centage was greater than that of any of the other three disability groups studied.
When their autistic child leaves school or full-time college education, the care
role for parents increases because the child is no longer out for long periods of
the day during term time, and the support offered by school and college staff is
no longer available. As a result, parents’ need for assistance to obtain work or day
care for their son or daughter, and for regular respite care, becomes paramount
(Hare et al., 2004). Parents of young adults with ASD may also need to initiate,
manage and participate in intervention programmes for their son or daughter.
They may also take the lead role in planning and managing their child’s move
to substitute care.

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Practical Issues

Not all adults with ASD leave home, however. An American study of older
adults reported that 38 per cent of those surveyed were living with their parents
(Henninger & Taylor, 2013). This may work well if a settled pattern of routines
and relationships can be established, and if the adult with ASD does not have
hard-to-manage behavioural problems. However, parents with adult children liv-
ing at home and who,are no longer earning may be in particular need of financial
support, not least because lifelong caring has continuously drained their resources.
They may also need advice about arrangements, financial and other, for safeguard-
ing their child’s future after they die (Hare et al., 2004). More is said about such
arrangements in the section on ‘Accessing Services and Rights’, below.
Lifelong support For most parents of an autistic child, the information, services,
advice and emotional support they need must be sought out as and when needed,
and accessed from a variety of sources, adding to the ongoing stresses and strains
of caring for an offspring with ASD. I know of only one organisation that offers
practical services as well as continuous support for individuals with ASD and
their families over the longer term. This is Division TEACCH (Treatment and
Education of Autistic and related Communication handicapped CHildren) in
North Carolina (Mesibov et al., 2004). Some of the services offered at Division
TEACCH are outlined in Box 13.3.

Box 13.3 Long-term services and support

to individuals with ASD and their families
provided by Division TEACCH
The stated aim of the TEACCH approach to working with families is ‘to help par-
ents handle the special stressors that confront them and to support them in their
efforts to deal effectively with their child’s problems:

Direct support for families includes:

Provision of specialist diagnostic and assessment facilities.

Nursery school provision and preschool intervention programmes.
Advice on educational issues and approaches.
Parent counselling.
Parent group activities.

Indirect support for families is provided by services to adults with ASD including:

Vocational guidance and employment training.

Counselling for those with relationship or mental health problems.

(From Division TEACCH website: http://teacch.com/about-us/what-is-teacch)

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OTHER CARE PROVIDERS

Substitute Care for Children

Why substitute care of children may be desirable or necessary

Parents may be unable to care for a child with ASD within the family home for a
variety of reasons. These may include the fact that a child has complex disabilities
(e.g. comorbid cerebral palsy or severe epilepsy) requiring exceptional levels of
care. Parents themselves may have health problems that prevent them from look-
ing after the child at home; or a family may have another child with a disability; or
there may be intractable social, economic or emotional problems within the fam-
ily, making care for the child with autism an intolerable additional undertaking.
Children with profound learning difficulties additional to their autism may also
require exceptional levels of care, especially if learning difficulties are accompa-
nied by challenging behaviour. These children are frequently excluded from local
schools that are not equipped to cope, putting even greater strain on the family.
Reasons of these kinds may lead parents to seek whole-year or term-time residen-
tial care and education for their children.
Another relatively common reason for a child’s living away from home
during school terms is the lack of appropriate educational provision locally. High-
functioning children in particular may not thrive in their local mainstream school
if no provision is made for their special educational, social and other support
needs. Finding an appropriate school placement is frequently a source of frustra-
tion and concern (Lilley, 2013), and some parents resort to legal action to obtain
an appropriate placement (Mayerson, 2014). Figure 13.1 was drawn by a boy I will
call ‘Adam’ to illustrate his distress at being bullied by other students on account
of being ‘different’. Persuaded that mainstream education was not working well
for Adam, the education authority in his local area agreed to help his parents fund
a placement in a specialist residential school, where Adam is now thriving.
The experiences of parents seeking residential care for their children through
local government agencies are, however, often negative. There is a perception that
neither healthcare nor educational or social work agencies will take responsibility
administratively or financially, and that cost-saving rather than their children’s
welfare is the priority (McGill et al., 2006). Parents commonly describe the pro-
cess of obtaining appropriate residential education and care as ‘a battle’, and
formal appeals against local education authority or State/state funding decisions
are common (Loynes, 2001; Mayerson, 2014).
Occasionally a child with ASD may be perceived as being at risk of neglect
or abuse within a troubled or dysfunctional family, or at risk simply because a
family or family member reaches breaking point (Mandell et al., 2005). Issues of
child protection may arise in any family, but more especially in families caring for
a child or dependent adult with a disability. Individuals with ASD who cannot
communicate, who are hyperactive, needing little sleep, or who have high levels of
challenging behaviour may constitute an intolerable burden, and abuse may be the

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Figure 13.1 Picture drawn by ‘Adam’

first sign that a family can no longer cope. In such cases the child may be removed
from family care by social services, either temporarily or permanently, and placed
in substitute care, with a guardian ad litem appointed and a key worker charged
with co-ordinating the child’s care, education and access to other services in place
of the parent(s).
In rare cases, an older child with ASD may be compulsorily detained as a result
of having committed an offence or because of a mental health problem that makes
them a threat to themselves or others.
Forms of substitute care for children
Whole-year care Residential homes and boarding schools offering whole-year
care may cater specifically for children with ASD or for broader groups of

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children with special needs that include children with ASD. For example, the
combination of severe learning disability with challenging behaviour with or
without autism is relatively common, and some care centres cater specifically
for this group.
Children with exceptional needs require exceptional residential provision.
Specialised provision may include high levels of security (for children with
extreme forms of challenging behaviours), modified environments (for chil-
dren with physical disabilities), on-site medical staff (for children with chronic
medical problems) and almost always one-to-one levels of appropriately trained
care staff. Whole-year residential provision for children with less complex diffi-
culties, who cannot be looked after at home as a result of family circumstances,
need not be so specialised. However, whole-year residential care for any child
must provide not only for the child’s basic needs, but also for their emotional
and social needs. Opportunities for physical, mental and social development
must be provided, and access to appropriate education ensured either by locat-
ing residential provision as part of a residential school, or by locating provision
near to a school or schools able to cater for the children’s educational needs.
Necessary as it may sometimes be to place an autistic child or adolescent in a
52-week residential setting, a report by Pinney (2005) commissioned by the UK
government noted that there were persistent concerns about:

e The impact on children of growing up away from their family and home community.
e The effectiveness of local arrangements for safeguarding and promoting the welfare of dis-
abled children in residential placements.
e Difficult transitions beyond school and children’s services and poor outcomes for some.
e The inappropriate use of residential placements when children’s needs could have been
met locally.
e The high cost of some placements.

Pinney’s report made a number of recommendations, but it is unclear to what

extent these have been acted on.

Term-time care Residential schools offering term-time care and education

should, like whole-year placements, cater for the full range of children’s needs.
However, links with families are more likely to be maintained when children
are in termly, as opposed to whole-year, care, and major attachment figures and
sources of emotional and social support are likely to come from the families
rather than the school.
Some residential schools offer education and care specifically for children
with ASD. Other residential special schools, for example schools catering for
children with language and communication problems, may offer appropriate
education for children with high-functioning ASD for whom suitable provision
is not available locally. A striking example of successful specialist provision is
described in Box 13.4.

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Practical Issues

Box 13.4 An unusual example of specialist

educational provision: Limpsfield Grange,
a mainly residential school for girls with ASD
Limpsfield Grange ts a mainly residential school catering for girls aged 11-16 with
ASD who have been unable to cope with mainstream school environments, even
with additional support. All the students at Limpsfield follow the mainstream curric-
ulum and work at approximately age-appropriate levels.
The school aims to provide a range of experiences that ‘facilitate interaction,
promote social inclusion and independence, and which empower students to
understand their autism and celebrate their difference:
To achieve these aims, the school provides a low arousal environment and a
high level of targeted intervention and individualised structured activity throughout
the school day. Staff development and training is ongoing, and the different pro-
fessionals who may be involved in working with any one student plan and work
together. Close liaison with parents and carers ensures a continuity of approach
across school and home.
The work of the school was recently rated as ‘Outstanding’ by the relevant
government inspectorate in the UK.
(With thanks to the Head Teacher of Limpsfield Grange
School for permission to include this information)

Occasionally a local government agency will fund a place for a high-functioning

child in a privately run mainstream boarding school, but generally only if there
are particular circumstances making it difficult for the child to live at home. Some
parents who can afford to do so opt to send their high-functioning child to a
private boarding school rather than accepting local provision. They may do this
mainly for educational reasons. However, weekly or termly boarding has the addi-
tional advantage that it offers respite to other family members, while the holiday
periods sustain relationships between the child and the family.
Residential schools catering for children with ASD in countries where autism
has long been recognised are run under the auspices of various organisations. These
include State-wide or regional education services/authorities, charitable trusts
including organisations such as the National Autistic Society in the UK, and schools
run by stakeholders such as business organisations, educational trusts and philan-
thropists. Some specialist schools are, however, run for profit by private companies.
State provision for children at risk, or detained Children who are removed from
their homes for their own or others’ safety, or because they have committed a
significant offence, may be cared for under the auspices of local authorities in the
following types of substitute provision:

e Foster home.
e Residential care home or hostel.

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e Residential school.
e Secure mental health unit.
e Young offenders’ institution.

Children with ASD form a minority of the total population of ‘looked after chil-
dren’ cared for by local authorities, where they are more likely to be placed in res-
idential care homes or schools than in foster homes or other family-type provision
(Meltzer et al., 2003).
Older children and adolescents who have fallen foul of the law may be detained
in secure units or young offenders institutions. Following some concerns as to
the appropriateness of care in some institutions in the UK, the National Autistic
Society introduced an accreditation system designed to ensure appropriate levels
of staff awareness, understanding and training, as well as ensuring access to edu-
cation, and to mental health services if needed. Care offered by non-accredited
institutions, whether in the UK or elsewhere, is of generally unknown quality and
appropriateness (see below).

Advantages and disadvantages of substitute care for children with ASD

It is difficult to generalise about the advantages and disadvantages of substitute
care because the reasons why a child is placed in such care, and the kinds of pro-
vision made and the quality of provision made, are so varied.
Clearly, where substitute care offers specialised facilities that a family is unable
to provide, or where it relieves a family unable to cope for unavoidable reasons,
or where it offers protection from neglect or abuse, it has immediate advan-
tages over home care. For children with ASD, the continuity and consistency of
approaches to intervention and education made possible by residential schooling
(the ‘24-hour curriculum’) may be a further advantage. Termly placement in a
residential school may not only benefit the child, but also enable a family to stay
together and to provide good home care during school holidays. At its best, resi-
dential care and education for children with ASD can work well, for children and
for families (McGill et al., 2006).
The major disadvantages of substitute care are cost (usually borne by the
State), and the risk of loosening links with a supportive family, especially if
substitute care is provided at a significant distance from the child’s family
home, which is all too often the case. There is also a risk that the care pro-
vided, if not conscientiously accredited and monitored, may fail to meet the
child’s needs in some way. In theory, children living away from home are
protected by a raft of laws and government advice on good practice, sup-
posedly enforced by regular monitoring and formal inspection by relevant
agencies (health, education and social services). However, these procedures
are often inadequately carried out in practice. Some of the shortcomings and
risks associated with placing vulnerable children, including those with ASD,
into substitute care are highlighted in the book by Smith et al. (2013) and
in the review of institutional care for children across Europe, by Hamilton-
Giachritsis and Browne (2012).
Practical Issues

Residential Arrangements for Adults

Needs of those living away from home

High-functioning adults High-functioning individuals with ASD may make
the transition from living with parents to living independently with relative
ease. If the individual has already attended a residential school the break from
home will have already been made. For those leaving home for the first time
to attend university or college, specialist support from university counsellors or
supervisory staff in halls of residence may be available to support and trouble-
shoot if necessary.
The ongoing care needs of those high-functioning individuals who move into
long-term employment are, at best, no different from those of most neurotypical
adults. There is, however, a heightened risk of social isolation and relationship
difficulties. The advent of social media has reduced this risk, making it easier for
‘Aspies’ to form friendships and sometimes life relationships. Despite this, the
need for mental health care remains higher than in the neurotypical population
(see Chapter 4).
Not all high-functioning individuals can achieve complete independence, how-
ever, usually because ASD is not their only disability. An example of someone I
once knew who lived largely independently, but who had some special residential,
social and occupational care needs, is described in Box 13.5.

Box 13.5 ‘Adrian’: An able man with ASD

and moderate visual impairment
Adrian was unable to find paid employment or to live fully independently
because he suffered from moderate visual impairment in addition to his autism.
He moved out of his parents’ home in his mid-20s when his father developed a
debilitating illness, and when | knew him he was living in a single bedroom flat
in a small block housing adults with a range of disabilities. There was a com-
munal lounge in the block, communal laundry facilities, and an activities room
housing computers, a small pool table, a piano and a games console. A warden
occupied a ground floor flat with a duty to ensure the safety and wellbeing of
tenants. Adrian’s flat had been modified to take account of his visual difficulties,
and he was able to care for himself in the main, including shopping and cooking
his own meals (mostly microwaved ‘ready meals, as | recall). His parents lived
nearby, and his mother visited once or twice a week to ‘keep-an eye’ Adrian
generally returned the visit after church on Sundays, to see his father and to eat
home-cooked Sunday dinner.
Adrian worked for two mornings a week as a volunteer in the offices of his local
Autism Support Group, mainly taking telephone calls as they came in. He also
attended social gatherings and outings organised by the group. He enjoyed travel
and was an expert in those travel firms that offered fully escorted holidays abroad
| for people with disabilities.

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Lower-functioning adults Lower-functioning adults with ASD have all the care
needs and rights listed at the outset of this chapter. During childhood, these needs
have usually been met by parents either directly or indirectly. For children in
substitute care, essential needs have been met by residential schools, state-run or
local authority care homes, foster parents or others ‘in loco parentis’. Given good
care in childhood, the severity of autism-related behaviours will have diminished
by the time the individual leaves school. They will also have acquired some com-
munication capacities as well as daily living routines and some occupational skills.
By the time they leave school, therefore, some capacities for independent living
should have been established. Nevertheless, complete independence is unlikely to
be possible. And for those autistic adults who are most profoundly learning and
language impaired, who may also have violent or challenging behaviour, specialist
residential care is essential.
Forms of residential provision for lower-functioning adults
Until the middle of the last century, adults with ASD who were unable to care
for themselves, and whose parents were not able to care for them at home, were
looked after in long-stay hospitals alongside adults with a range of other develop-
mental and mental health disorders. These establishments were generally large and
impersonal, catering for basic needs and little else. All such institutions in the UK
were closed many decades ago, once their manifold inadequacies were recognised.
Meantime, parent-led organisations had begun to establish specialist residential
care homes for adults with ASD.? The first such specialist care home was opened
in 1974, and continues to offer residential care to severely affected autistic adults
(see Box 13.6).
The move described in Box 13.6, from providing residential care for dependent
adults in large groups to providing care in individualised or small group settings,
reflects further changes in public policy designed to achieve a greater degree of
normalisation, and to give adults as much autonomy and control over their lives as
is consistent with their health and safety. Individuals with some capacity or poten-
tial to care for themselves are now likely to live in small group homes located in
the broader community. For example, a small group home might be located in a
detached house in a suburban road, offering a home-like environment to six or
eight individuals, who are supported by a resident warden and care staff.
‘Supported living’ schemes take the move towards normalisation one step further,
and are increasingly implemented by local authorities in the UK. In these schemes,
individuals with disabilities that could include ASD live in their own house or flat,
either alone or with a partner or other companion. They are supported by visits
from paid carers who may assist with daily living tasks, and by professionals from
social service departments who provide assistance of other kinds. These forms of
more individualised provision are likely to become increasingly common as legisla-
tion drives change from care within large-scale units, into which each individual has,

2Parents of children with other severe or complex disabilities, such as cerebral palsy or syndromic learning disability,
were also setting up residential homes or ‘care villages’ for their adult children by this time.

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Practical Issues

Box 13.6 Somerset Court: An example of

good practice in the provision of
group-based residential care
Somerset Court was established by the UK’s National Autistic Society (NAS) in
1974 as the first ever specialist centre for autistic people in the UK.
Originally, residential care was offered to a small group of adults living in the
large country house that gives Somerset Court its name. Residential accommo-
dation now consists of seven purpose-built houses designed to enable people
to live fulfilling lives in small groups, with the help of specialist staff. The range
of living arrangements includes shared bungalows, one-person flats and en-suite
bedrooms. Each house has a shared kitchen, living room and dining room, and
residents come together for meals and various activities.
Individualised programmes of learning and leisure activities are drawn up which
reflect each person's particular interests and needs. Activities include household
chores such as shopping, cooking and independent living skills, and leisure activi-
ties such as visiting the pub, bowling or going for a walk. People may also choose
to do art and craft activities, cooking, IT, music therapy and aromatherapy.
Day Services for autistic adults living in the region are also provided at Somerset
Court. Residents can take courses, use sports facilities, or work in the woodwork
shop, garden centre or creative studio making high-quality products for sale.

(With thanks to the NAS and the Manager of Somerset

Court for permission to include this information)
ast
to a greater or lesser extent, to ‘fit’, towards person-centred care in which support is
customised to cater for the needs of each individual.
Financial support for all forms of residential provision for adults with ASD, as
outlined above, generally comes from the State directly to the beneficiary or their
representative. At the time of writing, the benefits system in the UK is in a state of
flux, and there is considerable concern among people with disabilities themselves,
their families, and the groups that lobby on behalf of those unable to speak for
themselves, concerning possible cuts and reduced quality of life.
On the other hand, recent legislation in the UK and elsewhere has put a stat-
utory obligation on local authorities and health service providers to develop and
implement strategies to meet the needs of adults with ASD in their area (the
‘Think Autism’ directive). State provision for adults with ASD has in the past
lagged behind provision for children. When the child leaves school, educational
authorities have no further statutory role; only a proportion of individuals with
ASD have clinically significant mental health problems such as might make them
the responsibility of public health provision; and social service agencies have,
historically, offered a generic service with no specialist training or provision for
working with people with autism (D’Astous et al., 2014). This situation is, how-
ever, in the process of government-led change, as reported below in the section
headed ‘Accessing Services and Rights’

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Problems that can be associated with residential care for

lower-functioning adults
Every adult has the right to live as independently as is possible for them, and
parents have the right to see their children living as independently as possible,
with their needs well catered for, ensuring the best possible quality of life. The
examples described above demonstrate that this can be achieved for adults with
ASD, whether their needs are borderline, requiring minimal support, or complex,
requiring specialised residential care with intensive individualised support.
Many problems can and do arise, however. There is the initial problem of iden-
tifying the right kind of substitute provision for any one individual, and finding
where the needed provision exists, preferably close to the parental home or close
to where a sibling or other involved family member lives. There is the inevitable
problem of cost, and issues concerning who will bear costs, especially when spe-
cialised residential care is required. There is, as in the case of residential provision
for children, the worrying problem that the prescribed processes of licensing and
monitoring are not always fully adhered to. Cases of abuse can and do arise, one
such having made headline news in the UK in 2011. In this case, appalling abuse
occurred in a privately run ‘care home’ for adults with severe learning difficulties
and complex needs, including adults with ASD.
Cases such as the above have increased calls for community-based supported
living services to replace institutional services for people with learning disabilities.
It would be less than honest, however, to claim that caring for the minority of
severely learning disabled people with ASD who are prone to bouts of challenging
and sometimes violent behaviour is ever easy, in any setting. It can be done well,
using approved and safe methods of restraint and, pre-eminently, intervention to
reduce occurrences of such behaviour (see Chapter 12). However, this requires
high levels of well-trained staff which, of course, comes at a cost.
Finally, individuals themselves may not want to leave home, and this can make
it difficult to achieve an acceptable balance between respecting an adult’s right
to self-determination and acting in ways agreed by responsible others to be in
that adult’s best interests. For parents also, and especially for mothers, separation
from a dependent child after decades of caring in which a uniquely close type
of relationship may have been established can be difficult and painful (Krauss
et al., 2005). Sensitive management of the transition period, for both the individ-
ual and the parent, or parents, may be critical in determining that the move away
from home is experienced positively in the longer term (for discussion of support
during transition periods in general, see Smart, 2004).

ACCESSING SERVICES AND RIGHTS

Previous sections of this chapter have dealt with care in the sense of where
the child or adult with ASD lives — where is ‘home’ and who provides for
them there. In this section, the autistic individual’s access to services and

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Practical Issues

opportunities that are also identified under the principles of inclusion is

considered first. The section ends with an appraisal of the extent to which
people with disabilities, including those with ASD, enjoy the human rights
identified under the principles of inclusion.

* Services and Opportunities

Health care
Those with ASD are more vulnerable to health-related problems than most
people, including allergies and digestive disturbances, accidental or self-inflicted
injury, anxiety and depression (Croen et al., 2006). Frequent visits to clinics and
hospital stays have cost implications for families and independent adults, even in
societies providing free medical care. Autism-related characteristics may cause addi-
tional problems of time and cost in accessing appropriate health care. For example,
dental treatment for an individual with poor communication may involve trav-
elling to a specialised clinic or dental hospital, rather than using local services. In
addition, lack of up-to-date knowledge and understanding of ASD by many health-
care workers can cause inappropriate interpretation of symptoms, misdiagnosis
and inappropriate treatment advice (Heidgerken et al., 2005). This emphasises the
need for training, a need that is — albeit belatedly — slowly being recognised and
catered for. In the UK, for example, the British Psychological Society and Royal
College of General Practitioners now offer postgraduate training courses for pro-
fessionals working with people with ASD. NHS Scotland has developed an ‘Autism
Training Framework’ outlining the knowledge and skills required by medical staff
across the range, from those in generic services through to those working in special-
ist ASD services. Less encouragingly, a survey of Nurse Practitioners in the US (Will
et al., 2013) revealed feelings of inadequacy among those questioned; and specialist
training for doctors in the US is also reported to be sparse (Major et al., 2013).
Education
Children with ASD have the same right of access to education as any other child.
However, for children with ASD there is no clear division between education in
the sense of providing a child with opportunities to acquire knowledge and skills
(the goals of education as generally understood) and the provision of interventions
designed to provide children with ASD with the skills and strategies they uniquely
lack as a consequence of their autism, and to modify non-adaptive behaviours
associated with autism (Jordan, 2005). The educational needs of children with
ASD are therefore ‘special’, or ‘exceptional’, even in the case of high-functioning
school-age children or young adults attending college or university.
Appropriate provision for children’s and young adults’ educational needs could
include at least the following:

e Modified environments and equipment (e.g. small classrooms/individualised work stations,

secure and specially equipped playgrounds, a sensory room, additional computers).
e Modified curricula and individualised teaching programmes.

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e Modified teaching methods (see references to educational methods in Chapter 12).

e Specialist training for teaching staff.
e Parental or key worker involvement to ensure continuity and consistency of educational and
intervention approaches across home and school, playgroup or college.

Where and how these needs may best be met in a manner consistent with the prin-
ciples of inclusion is a hotly debated issue, discussion of which is beyond the scope
of this book (see Jordan, 2008, for an account of the issues). However, the principle
that no one size fits all is useful to bear in mind. Each individual with ASD has dif-
ferent and changing educational/intervention needs. Each family has different needs,
opinions and wishes for their child. Each playgroup or nursery, mainstream or spe-
cial school, college or university differs in their motivation and capacity to welcome
children or students with ASD into their communities. Decisions as to where a child
or young adult with ASD should be educated must therefore be made on a case-by-
case basis, often constrained by availability. Accessing appropriate education for their
children is therefore frequently arduous and frustrating for parents, as noted above.
However, where a range of autism-specific forms of provision is provided, parental
satisfaction can be high (Department of Education and Science (Ireland), 2006).
Many adults with ASD continue to benefit from education in the sense of inter-
vention to help overcome autism-related limitations and problems or to increase
daily living or vocational skills (as described, for example, in Box 13.6, above).
Attendance at college courses or evening classes can provide more able adults with
the kind of structured social event they are able to cope with, as well as providing
stimulation and practical benefits.
Employment
Examples of the kinds of employment or meaningful occupation that may be
obtained by individuals with ASD were described in the section on lifespan devel-
opment in Chapter 5. By ‘meaningful occupation’ (as opposed to employment) is
meant here unpaid, or nominally paid, work, for example household tasks carried
out in a residential setting, or work carried out on a voluntary basis or in a shel-
tered workshop or day care facility. The present section concerns the ability of
people with ASD to access paid employment, which they have a right to expect
under the principle of inclusion.
Obtaining and keeping paid employment are both problematic for people with
ASD, from the least to the most able. Regarding access to employment for less
able individuals and those with behavioural problems, the description of Nancy
(Box 5.1) provides an example of the kind of setting in which supported employ-
ment may be obtained, and the methods used to introduce the individual to a
work environment and work practices so as to maintain the individual in their
employment. A further example of how environmental modifications and specific
task support may enable a less able person with ASD to carry out paid work in a
sympathetic setting is described by Hume and Odom (2007). These authors used
TEACCH principles of structuring the work environment and providing a visual
timetable to enable a young man, Mark, to stay on task and complete work assign-
ments independently of external prompting.

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Practical Issues

Encouraging as they are, the descriptions of Nancy and Mark serve to under-
line the difficulties involved for less able individuals to access employment: at
the least, it requires sympathetic employers and fellow employees, extensive and
painstaking preparation and training, and continued support.
A somewhat different set of problems confronts more able individuals with
ASD in accessing and maintaining employment. These are vividly illustrated
in quotes from people with AS who were interviewed about their experi-
ences of employment (Hurlburt & Chalmers, 2004). For example, one woman
reported:

| have a degree in political science and am just trying to get a decent job with decent pay and
benefits. |have cleaned cat cages, done janitorial work (which is boring, boring, boring), office
work ... [been] a telemarketer (which | hated, but | learned how to do public speaking!), and
worked in a group home on the early morning shift. (Hurlburt & Chalmers, 2004: 218)

This woman attributed her inappropriate and changing employment to her diffi-
culties in conforming socially. Another woman said that others in the office where
she worked ‘felt uncomfortable around her and tried to get rid of her’. A young
man reported that he had just been laid off his job because of anxiety resulting
from his inability to cope with changes in co-workers, supervisors and job coaches
(compare the case of ‘Mr A’, described in Box 4.4).
For reasons such as the above, only a minority of high-functioning people with
ASD find paid employment in jobs for which they are well qualified.
However, it has been shown that supported employment schemes for more able
individuals can achieve a high level of success with significant benefits to individu-
als themselves and society in general in terms of cost savings (Mavranezouli et al.,
2013). Moreover, ongoing changes in the benefits system in the UK are putting
pressure on people with disabilities to find employment, and the ‘Think Autism’
strategy referred to above places an obligation on local government authorities to
support people with ASD into work.
The response of one local authority, working in co-operation with a charity, is
outlined in Box 13.7.

Financial assistance

The financial costs to families rearing a child with ASD are considerable (Sharpe
& Baker, 2007; Parish et al., 2012) and publicly funded financial assistance to
which a family may be legally entitled rarely if ever covers these costs. In addition,
accessing the various forms of financial assistance to which a family, or an adult
living independently, may be entitled is likely to involve seeking out somewhat
inaccessible information, understanding regulations concerning eligibility, filling
in complicated forms, and co-operating with intrusive assessments (Grant, 201 iW
In the UK, at the time of writing, there are eight different forms of allowance or
benefit for which families with an autistic child may qualify (NAS website). In the
US, the situation for adult claimants is even more complex. Peter Emch, father of
an adult with ASD, wrote in 2011:

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Box 13.7 An example of good practice in

supporting adults with ASD into
sustainable employment
Autism Spectrum Disorder Employment Support (ASDES) is a part government-
sponsored, part charitable organisation, operating in Wales. Its core aim is to
support people with ASD into work. Social gatherings and outings are used to
enhance communication and social skills, and to accustom potential job applicants
to being out and about in their local community. In addition, a team of counsellors,
psychologists and job coaches offers individualised assessment, training, counsel-
ling and support to facilitate entry into appropriate sustainable employment. The
work carried out by job coaches is critical, and includes the following:

With clients
e Building a relationship with the client in order to identify their strengths and their
development needs relating to specific job skills.
e Understanding how their disability affects them personally and considering how
their specific needs may be accommodated in the workplace.
e Providing training and support to increase the client’s capabilities.
e Ensuring that they have an up-to-date CV and covering letter appropriate to
their job goals, and carrying out mock interviews.

With potential employers

e Seeking out appropriate job opportunities.
e Approaching potential employers and arranging interviews.
e Conducting a detailed job analysis at employers’ premises in order to match a
client to the work.
e Identifying reasonable adjustments for the client in the workplace and negotiat-
ing for these adjustments with the employer.
e Escorting the client to interview and acting as their advocate.
e Carrying out ASD staff-awareness sessions with an employer.
e Accompanying the client to work when appointed, until they are settled in.
e Providing follow-up for both the client and the employer, including discussion of
issues relating to career development.
(With thanks to the Chairman of ASDES for
permission to include this information)

Public support consists of disparate programs, individually legislated sometimes by federal

and other times by state governments — some aimed at poverty, others at disability — that are
rarely coordinated. The result is a confusing mess. There is no ‘U.S. Autism Program: (autis-
mafter16 website)

Moreover, according to a survey by Parish et al. (2015), private insurance (against

medical costs) rarely, if ever, covers actual financial outlay.

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Practical Issues

Unsuprisingly, families caring for a child or dependent adult with autism

find the processes difficult and irksome, and may need assistance with obtain-
ing financial benefits for which they, or their dependent son-or daughter,
are eligible. National and local ASD support groups may provide helplines,
information packs and day courses from which advice can be accessed. Some
voluntary organisations also offer free advocacy services. However, if a claim
goes to an appeal, advice and assistance from paid professionals may be neces-
sary, incurring additional cost.
Professional assistance
Advice and advocacy by professionals such as lawyers, doctors or accountants
is needed not only in appeals relating to benefit claims, but also in appeals
relating to educational or substitute placements (Mayerson, 2014). Legal and
financial expertise are also needed when parents make their Wills,.especially in
cases where there is a dependent son or daughter. This usually entails setting
up a Trust to administer funds for the benefit of the dependent person. Here
again, useful information can be obtained from various helplines and websites
dealing with issues for families with a dependent disabled child. However,
the actual formulation of a legally binding Will, and the establishment and
financial management of a legally watertight Trust, require input from lawyers
and accountants. Some legal firms specialise in helping families of disabled off-
spring, and contact details for such firms may be found in relevant publications
and websites.

Human Rights

According to the principles of inclusion listed at the outset of the chapter, all
humans have a right to self-determination in matters of care and daily living, and
the right to be valued and respected on equal terms with others. To what extent
are these ideals achieved? And if not achieved, why might this be the case?
The right to self-determination
This human right is generally recognised by authorities regulating substitute
care and operating systems of licensing and inspection in developed countries.
Substitute care providers generally aspire to recognise this human right, accord-
ing to their mission statements. However, whether or not this aspiration is met
in practice is difficult to ascertain, and the fact that evidence of poor or abusive
care continues to emerge via the media suggests that regulatory authorities do not
always make adequate checks.
There are also real practical difficulties in cases where an individual does
not have the capacity to understand why a decision has been made on their
behalf, contrary to their own wishes. A woman I have known since she was a
child, who is now in her late 40s, provides an example, although ‘Lily’, as I
will call her, has cerebral palsy and mild to moderate learning difficulty, but
not autism — see Box 13.8.

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Box 13.8 ‘Lily’: An example of practical

difficulty in implementing the right
to self-determination
From her early 20s, Lily had lived in great contentment in a group home for physi-
cally disabled people. She called the staff and other residents there her ‘family; and
she was well known and liked by people living and working in the neighbourhood
where she was regularly taken to shop, or to a local café, or to ‘disabled swimming’
sessions.
The time came, however, when the charity running the group care home
decided, with the very best of intentions, to move all the residents into their own
flats or bed-sits in nearby towns, in accordance with the principles of supported
living. Ironically, one of the arguments in favour of supported living arrangements
for dependent adults is that it provides greater autonomy for individuals than group
living can easily achieve. But Lily was distraught. To her it was compulsory removal
from her family and friends, senseless and hurtful. She did not want to live on her
own, or with just one other person; nor to take on greater responsibility for her own
basic needs.
In the end, and after a prolonged and ultimately unsuccessful campaign by
residents’ families and friends to keep the group home open, Lily’s wishes were
partially recognised. She moved into a group home run by a different charity, where
she is now in the process of establishing a new ‘family’ and new friendship groups.

(With thanks to ‘Lily’ and her mother for permission

to include this account)

Regulation and inspection does not of course extend to children or dependent

adults living at home. Parents and other family members must make their own
compromises concerning their child’s, or adult son’s or daughter’s right to self-
determination. Only extreme cases of denial of this right in the context of abuse
or neglect would be likely to come to the attention of authorities with the power
to improve the situation.
The right to be valued and respected on equal terms with others
The right of disabled people to be valued and respected as much as anyone else
involves breaking down barriers of ignorance and prejudice. This is the case for
any kind of disability, whether physical or behavioural, that makes an individual
noticeably different from the majority. Governments may legislate for inclusive,
non-discriminatory provision for people who are perceived as ‘different’, whether
on account of disability, colour, age or religion, but they cannot control the atti-
tudes and reactions of members of the general public.
Parents of children with ASD, even in so-called ‘enlightened’ societies, fre-
quently report hostile or hurtful reactions to their child from, for example, parents
of neurotypical children in mainstream schools, or staff and clientele in supermar-
kets, restaurants, libraries, swimming pools, and other public places and spaces.

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Practical Issues

High-functioning children with ASD in mainstream schools are almost invariably

victims of bullying. Lower-functioning adults are vulnerable to mockery in the
workplace, pub or club. Even something as apparently straightforward as using
public transport to travel to school or to work or to see a friend or relative can
be difficult and/or unpleasant for individuals and families, oe hostile or
humiliating comments, from other transport users.
Why should this be so? The reasons are almost certainly fas seated and to
do with the fact that living in social groups was a crucial factor in the evolution
of the human species (Frith, 2013). Living in a group involves differentiating
between members of our particular group and those who are not members of our
group (Tajfel, 1981). Behaviour towards non-group members, or ‘out-groups’,
is likely to be hostile or at best exclusionary. The human tendency to view the
world in terms of in-groups and out-groups at multiple levels is, of course, what
all disability rights groups fight against, including the neurodiversity movement
referred to in Chapter 12. Ignorance and fear also prevent ‘us’ (the in-group of
non-disabled people) from recognising that the facially disfigured war veteran
sitting opposite us on the train, the Tourette’s sufferer shouting obscenities in the
street, and the autistic child rocking and making strange sounds in the café are all
human beings ‘like us’.
Getting to know such people as individuals is the best way to combat ignorance
and fear, which is one reason why ‘autism awareness’ is almost always highlighted
in strategy documents relating to the wellbeing of people with ASD. Media rep-
resentations of people with ‘Asperger syndrome’ as a bit odd but clever to the
point of genius have helped those at the high-functioning end of the autism spec-
trum to gain acceptance and respect. However, the tide of novels, films, TV series
and comic strips featuring Aspies has probably made it harder, rather than easier,
for people with more debilitating forms of ASD to be respected and valued as
much as anyone else: unless they have some savant ability to show off, they are not
clever, and their behaviour may be disconcerting or even threatening.
Another reason why people with disabilities are often undervalued and treated
with disrespect is that the ideals of normalisation and inclusion have a very short
history. Within living memory, parents of a baby with, for example, cerebral palsy
or Down syndrome (easy to detect at birth) were commonly advised to ‘put him
in a home’. In such ‘homes’ other children with learning disabilities, including
those with autism, would also be placed when their difficulties became conspic-
uous. Basic care needs were provided for, but only those institutions run by the
most enlightened voluntary organisations would have perceived any needs for
intervention, education or occupation, let alone any legal or moral right to self-
determination and respect.
The ideal of ‘equal value equal rights’ applied to individuals with disabilities is
also fragile, since it is only likely to be acted upon in societies that are not under
survival pressure. When survival pressures increase as a result of war, famine, epi-
demic or financial depression, the needs and rights of people with disabilities of
any kind, age and infirmity included, are often discounted or ignored, even in
so-called civilised societies. Recent examples come all too easily to mind.

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In view of the deep-seated roots of prejudice and discrimination, and the rela-
tive recency and fragility of the ideals of inclusion, it is not surprising that these
ideals have not been fully achieved for people with ASD, even in rich, developed
countries. However, within my own lifetime — now long — I have seen immense
progress towards making these ideals a reality. There is some way to go. But we
should not be pessimistic.

SUMMARY
The principle of inclusion sets the standard for identifying the care needs and
rights of people with disabilities, and for judging the degree to which they are met.
Identified needs include food, shelter and protection from harm; emotional and
social stimulation and support; and opportunities for physical, mental and social
development. Rights include access to health care, education and other services,
and the right to self-determination and to be valued and respected.
Families are the major providers of care for people with ASD. However, caring
for a child or dependent adult with ASD is demanding and stressful, involving
unusual amounts of time, energy and money, and entailing loss of normal family
life and disruption of within-family relationships. Support for families in their care
roles is therefore important. Immediately post-diagnosis of a child, parents need
information, emotional support and practical advice. Later, the pre-eminent need
is for support that enables the family as a whole to prosper. This could include
the provision of respite care, parent counselling and support for siblings. Parents
of adults with ASD often have an increased care load when their child leaves full-
time education, and the need for work opportunities, day care facilities and respite
care for the dependent adult is then paramount. Throughout their lives, parents
need advice and practical help in planning their children’s future and in accessing
available resources and services for them.
‘Out-of-home’ or ‘substitute’ care for children may be required for a variety of
reasons. For example, a child may have exceptional needs that cannot be catered
for at home; a family may be unable to cope for health reasons; appropriate edu-
cational provision may not be available locally. Occasionally, a child is considered
to be at risk within the family and is taken into care. Substitute care for children
takes various forms, from foster care to term-time or whole-year residential care
and education. The advantages and disadvantages of substitute care depend on the
reasons why an individual has to be cared for, and on the quality of the substitute
provision. In all cases, provision is costly, and there is a risk of loosening links
between the family and the affected child or adult.
Adults with ASD who are not living at home may at best live completely inde-
pendently. More commonly, some degree of support is needed to ensure that the
individual’s needs are met. This ranges from ‘keeping an eye’ on someone living mainly
independently, to providing intensive practical, emotional/social and occupational sup-
port to individuals living in small group homes or in individualised accommodation.

261
Practical Issues

Many people with ASD have lifelong needs for the kinds of services and
opportunities provided by external agencies. Accessing appropriate services may
be difficult for numerous reasons. For example, appropriate health care may
be unavailable because of a lack of specialist staff training. Appropriate educa-
tion for a child with ASD may require modifications of standard environments,
curricula, equipment and teaching methods and, again, specialist staff training.
Finding and maintaining employment for an adult with ASD may require consid-
erable time and effort from support workers. Accessing much-needed financial
benefits and advice is often, again, difficult and frustrating. However, recent leg-
islation underlines the obligations of centrally or locally run authorities to cater
for the needs of people with ASD. In addition, autism support networks provide
helplines, written advice, and training in advocacy designed to help individuals
and carers access services to which they have a right.
The human right of self-determination and the right to be valued afd respected
are harder to ensure. Enjoyment of these rights is hindered by deep-rooted atti-
tudes within society in general towards people who are perceived as ‘different’,
whether by virtue of skin colour, religion or disability. However, progress in break-
ing down ignorance and prejudice against people with ASD is being made.

262
 Appendix
ASSIGNMENTS

PART 1 WHAT IS AUTISM?

Chapter 1 Historical Background

Choose THREE of the following neurodevelopmental disorders and outline progress that
was being made in the period 1950-1980 (approximately) in characterising, defining and
understanding these disorders:

Down syndrome dyslexia ADHD Fragile-X syndrome

Specific language impairment/developmental dysphasia

Take each of ‘Creak’s Nine Points’ and, using the Index of this book (and/or other sources),
write summary accounts of current knowledge relating to each of the nine characteristics
identified by Creak.
Why were the psychoanalytically-based explanations of autism, such as those of Bettelheim
and Mahler, taken seriously in the 1950s and 1960s? Why have psychoanalytic/psycho-
therapeutic approaches to understanding autism (see, for example, Tustin, 1981/1995,
1991) continued to have a role in the treatment of children and adults with ASD, and in
supporting their families?
Using an electronic search of peer-reviewed literature published between 1960 and 1980,
identify and discuss some of the major topics of interest in the field over this period. Are
some or all of these topics still of interest?

Chapter 2 Current Concept and Definition

What are the pros and cons of the spectrum concept of ASD as opposed to the subtypes
concept? Why might the views of affected individuals themselves and their families, as
opposed to the views of academics/researchers, or the views of administrators or practi-
tioners, vary concerning the pros and cons of the two concepts?
Popular fiction, including television and stage plays, novels and comic strips have fre-
quently represented individuals who, it is either stated or implied, are autistic. Using one
or more example of such fictional representations, state in what ways the representation is
accurate and in what ways it might be misleading.
Appendix: Assignments

Two kinds of ‘Descriptors’ supplement the diagnostic criteria for ASD in DSM-5. What are
these Descriptors and how are they intended to be used? Do you consider them a useful
addition? And if so, for whom and why? r
What are the areas of overlap and the areas of difference between the communicative and
other behaviours of a child with ASD as compared to a child with SCD? Give examples of
actual behaviours that might contribute to making a differential diagnosis.
(a) In what ways do both Mandy and Damien (described in the text) meet the detailed
descriptions of SEC impairments and RRBs in DSM-5 (see Box 2.1)? How might DSM-5
Descriptors apply to each of these individuals? (b) From your own knowledge or experi-
ence, write one or more further ‘thumbnail sketches’ indicating ways in which the individu-
al(s) depicted meet DSM-5 criteria.

Chapter 3 The Fuller Picture: Shared Characteristics

(a) Watch some real-life and/or filmed two-way interactions between relaxed but wakeful
typically developing infants up to 12 months of age (approximately) and their close carers.
Use your observations to illustrate the characteristics of dyadic social interaction in infants
as described by Trevarthen and Aitken (2001) and/or by Sigman et al. (2004). (b) Do some
‘people-watching; for example in a bar or restaurant. In what ways do dyadic interactions
between adult couples resemble and/or differ from dyadic interactions between infants
and close carers?
Read a first-hand account of what it is like to be autistic (there are well-known accounts by,
for example, Temple Grandin, Donna Williams — and many others). What does the account
tell you about this particular individual’s sensory-perceptual experiences, perhaps across
several years of their life? What strategies does the individual report using to deal with their
particular experiences? Have they benefitted in any way from their unusual experiences?
Compare and contrast the behavioural characteristics associated with psychopathy and with
autism using, in particular, the concepts and definitions provided in Box 3.1. (This assign-
ment will involve accessing literature beyond the References included in this chapter.)
Write an account of one the following ‘shared characteristics’ of ASD, basing your account
on findings from research:

Imagination and creativity Islets of ability

Motor skills Sense of self

Describe how all four of the above ‘shared characteristics’ apply, or do not apply, to some-
one with ASD whom you know well.

Chapter 4 The Fuller Picture: Sources of Diversity

(a) It is often said dismissively of intelligence tests that ‘they only test what they test’
Working with a fellow-student/friend, test each other on the Wechsler Adult Intelligence
Scale (WAIS — any edition). (b) Pool your ideas as to what abilities/capacities are involved
in each subtest, starting with, for example, ‘vision: Write an account of your conclusions
plus a discussion of the relevance/irrelevance of ‘what the WAIS tests’ to academic
success as indexed by school exams.

264
 Appendix: Assignments

Compare and contrast the relationship between communication and language in terms of
functions, means, etc. Which is the more handicapping, in your view: a social interaction-
communication impairment with intact language or a language impairment with intact
social interaction-communication? Justify your view.
What evidence is there for a raised prevalence in people with ASD of EITHER immune
system disorders OR gastrointestinal disorders? Critically assess the evidence.
Read/dip-and-skim Lynn Waterhouse’s book Rethinking Autism: Variation and Complexity
(Academic Press, 2013). Write a brief answer to the question ‘Is there such a “thing” as
“autism’/‘ASD”?’ referring to some of the arguments and evidence in Waterhouse’s book.
What is meant by ‘challenging behaviours’? Give examples of different kinds of challeng-
ing behaviour that can be associated with ASD, drawing on descriptions in the factual or
research literature, or from your own experience.

Chapter 5 Facts and Figures: Epidemiology and

Lifespan Development

Is there an ‘epidemic’ of ASD in affluent societies? Or can reports of increased prevalence

be explained in other ways?
What evidence and arguments are there for the suggestion that ASD in females is
under-diagnosed? If not under-diagnosed, how might the different distributions of males
and females across the spectrum be explained?
Awareness of ASD as a relatively common condition is increasing in most low-/middle-
income countries. Write an account of autism awareness, diagnostic services and subse-
quent support and provision for individuals with ASD in one or more low-/middle-income
country.
The studies by Seltzer et al. (2003), McGovern and Sigman (2005), Levy and Perry
(2011), Pellicano (2012c) and others are encouraging concerning the likelihood that SEC
impairments and RRBs will diminish in most individuals with ASD over time. What factors
increase the chances of this happening? What factors decrease the likelihood?
Why do people with ASD have a shorter life expectancy than individuals in the general
population? What could be done to increase life expectancy?

PART II WHAT CAUSES AUTISM?

Chapter 6 A Framework for Explaining Autism

Figures 6.2a and 6.2b give examples of causal links between facets of ASD-related behav-
iour that come under the descriptions of ‘many-to-one’ and ‘one-to-many: Generate and
describe some further examples of causal links in ASD to which these descriptions might
apply.
Three neuropsychological explanations of ASD — impaired mindreading, weak central
coherence, and executive dysfunction — were until recently widely considered to be capa-
ble of explaining autism-related behaviour. Discuss the current status of each of these
theories using material and references from Chapter 9 of this book.

265
Appendix: Assignments

In your own words, and giving examples, explain what the following terms mean when
used in discussion of the causes of medical, mental health or neurodevelopmental
conditions:

necessary sufficient necessary and sufficient

primacy specificity universality

Peer-reviewed literature is recommended as a source of information about possible causes

of ASD. Peer-review may, however, prevent novel theories from being disseminated. Look
up the editorial policy and recent issues of the journal Medical Hypotheses. Select a paper
that interests you and summarise the hypothesis proposed and the evidence and argu-
ments presented. Is this hypothesis worth pursuing? Justify your response to this question.
Identify ways in which understanding the causes of ASD in all its varied manifestations
may benefit: (a) individuals; (b) parents and families; (c) practitioners, educators and oth-
ers working directly with people with ASD; (d) specialists in other fields, for example genet-
ics, pharmacology, toxicology; and (e) society generally.

Chapter 7 Root Causes

What do twin and family studies tell us about the role of (a) genes and (b) environmental
factors in the etiology of ASD?
The capacity to acquire language is genetically determined (given appropriate experience
of language in childhood). What specific genes may be involved in the etiology of (a) spe-
cific language impairment and (b) language impairment in ASD?
What may cases of syndromic autism tell us about the etiology of ASD? Illustrate your
argument with detailed reference to the genetic variations underlying at least two syn-
dromes with which ASD may be associated.
A couple whom you know are planning to have a child. Members of both families have
some marked autistic features of behaviour and your friends are anxious about their own
chances of having a child with ASD. What advice would you give them (if asked) regarding
any precautions they might take in terms of lifestyle before, during and after the looked-for
pregnancy?
Why is the hoary ‘nature versus nurture’/ ‘genes versus environment’ controversy unten-
able in the case of ASD? Why are theories that maintain EITHER that autism is entirely
and always genetic in origin OR that autism is entirely and always environmental in origin
damaging to individuals and families?

Chapter 8 Brain Bases

Animals models are widely used in research into the causes of ASD. Describe their use in
increasing our understanding of EITHER the etiology OR the neurobiology of ASD.
In what ways has knowledge concerning brain development, structure and function in peo-
ple with ASD contributed to the development of some of the treatment methods identified
in Chapter 12?

266
 Appendix: Assignments

Substance abuse and most other forms of addiction are rare in people with ASD despite
the rigidity and repetitiveness of much of their behaviour. How may an understanding of
the neurochemistry of the brain in ASD help to explain this apparent contradiction?
What evidence is there concerning abnormal structure and function in individuals with
ASD of TWO of the following brain regions/structures?

the prefrontal cortex the limbic system

the corpus callosum the cerebellum

Chapter 9 Proximal Causes 1: Diagnostic Behaviours

Read Frith’s account of the normal development of the human mind, and the anoma-
lous development of the mind in ASD (Frith, U. Scripta Varia 121, Vatican City, 2013).
Summarise the developments that are described as normally occurring on each of the
five floors of the imaginary house. To what extent are developments on any floor innate,
according to Frith? To what extent do developments on ‘higher’ floors build on what has
been established on ‘lower’ floors?
What do you understand by the terms ‘sensory soothing’ and ‘sensory seeking’? How may
the concepts underlying these terms help to establish links between sensory-perceptual
anomalies and RRBs in individuals with autism? What implications might these links have
for the treatment of repetitive sensory-motor stereotypies (RSMs)?
‘Impaired integration’ is cited several times in Chapter 9 as a likely contributory cause of
behaviours diagnostic of ASD. Identify and comment on each of these possible causal
links and any others that you know of in the autism literature. How might impaired integra-
tion at the neuropsychological level derive from brain abnormalities associated with ASD?
Facial expression of emotion is a central component of nonverbal communication. What
is known about the ability of people with ASD (a) to interpret others’ facial expressions of
emotion and (b) to use appropriate facial expressions themselves?
Watch and listen to one or more filmed conversations between a person with ASD and a
non-autistic person. Analyse where and how the conversation is abnormal or unusual. If you
have technical understanding of pragmatics, use your knowledge to amplify your answer.

Chapter 10 Proximal Causes 2: Additional Shared

Characteristics and Major Specifiers

Identify and discuss relationships between RRBs and some of the peaks and troughs of
creativity and imagination in autism.
Identify ways in which spared, or relatively spared, abilities in people with ASD across the
spectrum can be capitalised on — whether automatically and unconsciously by the individ-
ual, or with the assistance of others — to benefit the individual. Give practical examples.
If you were formulating an exercise regime for an overweight adolescent boy with middle-
to-high-functioning ASD, what forms of exercise might you realistically expect him to per-
sist with — and why? How would the regime you describe differ from a regime prescribed
for an overweight non-autistic boy of the same age? (Assume the assistance of a support-
ive adult in both cases.)

267
Appendix: Assignments

In what ways may the underlying causes of learning disability in non-autistic individuals
(a) overlap with and (b)differ from the underlying causes of learning sari in autism?
Support your arguments with reference to research studies.
How may (a) SEC impairments and (b) sensory anomalies in infants and young children
with ASD contribute to delayed speech/language onset and anomalous language acquisi-
tion across the spectrum? Critically appraise evidence for the role. of (c) comorbid SLI as
a cause of persistently impaired language across the spectrum.

Chapter 11 Assessment, Diagnosis and Screening

Describe a variety of methods and procedures that might be used to assess individuals
with ASD in any TWO of the following specialisms:

Occupational Therapy Educational Psychology

Paediatrics Social Work

Physiotherapy Clinical Psychology

How might the assessment methods you describe be relevant and useful?

Imagine you are a member of a high-powered debating society and you are to propose
the motion that ‘This house considers the diagnosis of cases of ASD to be both desirable
and necessary: Write your speech. Then write a speech opposing the motion, responding
to points made by yourself as the proposer of the motion. Alternatively, work with someone
else to propose/oppose the motion, respectively.
Compare and contrast the information elicited by the ADI-R (Box 11.4) and by the DISCO
(Box 11.5). What may be the respective advantages and disadvantages of these two highly-
respected diagnostic interview formats?
There is an ongoing dispute between the American Academy of Pediatrics and the US
Preventitive Services Task Force concerning the pros and cons of universal (Level 1)
screening of infants and preschool children for ASD. Using scholarly publications and
websites as your sources, write an account of both sides of this argument.
‘John; an 8;0 year old with middle-functioning ASD, has in the course of one school term
been assessed by the school nurse, the special needs teacher who works with him, the
speech and language therapist who visits the school, and a researcher investigating
working memory in ASD. What may each of these professionals be seeking to learn about
John — and why? Are there ways in which these professionals might learn from each
other’s assessments?

Chapter 12 Intervention

Should people with ASD be left essentially ‘untreated’ and valued for their differences? If
treated, should the aim of treatment be to make the affected individual ‘more normal’ — or
to make them ‘happier’? Argue the pros and cons of each of these three approaches to
intervention, and draw a conclusion.
It is widely accepted that early intensive non-physical intervention of certain kinds can —
in at least some cases — have positive effects on at least some ASD-related behaviours.
What are the common features of many of the programmes on offer? What are some of
the differences?

268
 Appendix: Assignments

Explain why and how each of the following might be appropriately used to treat individuals
with ASD:

Cognitive behavioural therapy Family therapy

Psychotropic medication Psychotherapy

llustrate your answer with real-life or imaginary case histories.

No medications are available to effectively treat the behavioural anomalies diagnostic of

ASD. Why might this be the case?
The history of proclaimed cures and treatments for ASD is littered with examples of unsup-
ported claims. Unfortunately this continues, with unsubstantiated claims made for the efficacy
of numerous treatments that are on offer. Select any one such ‘borderline evidence-based’ or
‘non-evidence-based’ psychosocial/behavioural treatment and design a watertight efficacy
study, using the designs and points of method outlined in Boxes 12.1 and 12.2.

Chapter 13 Care

Compare and contrast laws relevant to provision for people with ASD (including legislation
for disabled people generally) in your own country and one other country, identifying infor-
mation via the internet.
lf you ruled the world, what provision would you make for educating people with ASD
across the age range and across the spectrum? If possible, check your answer with
another student and discuss any differences you have on this question.
In the case of very low-functioning and/or significantly behaviourally disturbed individuals
on the spectrum, how may a balance be struck between the ideal of inclusion and the
realities of catering for each individual's special care needs?
Describe the roles of family support groups, whether at neighbourhood level or in the form
of large professionally run organisations, in catering for the needs of individuals with ASD
and their families in high-income countries.
Describe real-life cases, either from your own experience or from your reading, in which
individuals with ASD or their families have needed to employ any FOUR of the following
professionals:

specialist lawyer (for criminal cases, employment disputes, Wills, Trusts, etc.)

financial advisor tax accountant insurance consultant

professionally trained advocate (e.g. for benefit claims) other

269
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 GLOSSARY

Terms included in the Glossary are those indicated in bold typeface the first time
they occur in the main text in the usage to be defined, plus some terms that
occur in boxes. Italicised words in any definition can be found elsewhere in the
Glossary.

Absolute pitch (AP) The ability to recognise the pitch of any given note in
music and give its name. Sometimes referred to as ‘perfect pitch’.

Acetylcholine (A.CH) See Box 8.1.

Acquired autism A term used to describe cases in which an older child or

an adult develops behaviours characteristic of autism after an illness such as
herpes encephalitis that causes damage to certain areas of the brain. The autistic-
like behaviours do not generally persist. Cf. quasi-autism and pseudo-autism.

Action—outcome monitoring The process of comparing the intended outcome of

an action with the actual outcome of that action.

Adaptive behaviour Behaviour that is appropriate and useful for the individual’s
survival and wellbeing. The opposite to maladaptive.

Advocacy Work carried out by groups or individuals with the aim of advocating,
or arguing for, the legal rights of individuals with disabilities. May take the form of
lobbying for changes within society and the law or making the case for a specific
individual’s rights, for example to disability allowance or freedom from abuse.
Also involved with providing information and advice to individuals and carers, and
in training individuals and groups in self-advocacy.

Affect See Box 3.2

Affective To do with emotions.

Glossary

Affective agnosia Agnosia means ‘not knowing’/‘lack of knowledge’. In the cur-

rent phrase, refers to the inability to perceive and interpret emotions. Colloquially
referred to as ‘emotion blindness’. :

Affective empathy See Box 3.2. Synonymous with contagious empathy.

Akinesia A neuromuscular condition involving impairment or loss of voluntary

. . N . . . . . . .

movement. Cf. psychic akinesia.

Alexithymia See Box 3.2.

Algorithm In general terms, a procedure or formula for solving a problem. When

used in the context of scoring responses to a complex diagnostic test, an algorithm
will involve a set of detailed instructions to be carried out in a specified order.

Alternative and allied healthcare (AAH) See complementary and alternative

medicine.

Amodal Not confined to any one sensory modality: common to all the senses.

Amygdala An almond-shaped structure in the interior of each temporal lobe con-

taining several different nuclei. Part of the limbic system.

Apoptosis Death of a cell caused by a chemical signal that activates a genetic

mechanism inside the cell.

Apraxia Complete loss of the ability to perform voluntary movements. Cf dyspraxia.

Arousal As used in neuropsychology and neurobiology, generally refers to the state

of alertness or readiness of the nervous system to respond, as influenced by the
activity of certain brain regions and neurochemical systems. See reticular activating
system.

Articulation Production of speech sounds (vowels and consonants) by bringing

the moving parts of the speech apparatus (tongue, lips, soft palate) into contact
with or proximity to other moving parts or non-moving parts (teeth, hard palate).
Sometimes inaccurately used in place of phonology.

Asperger disorder Synonymous with Asperger syndrome but less commonly

used, although preferred in both DSM-IV and ICD-10.

Asperger syndrome (AS) The autism spectrum disorder characterised by

impaired social, emotional and communicative interaction and by restricted,
repetitive behaviour and lack of creativity, in people with normal language devel-
opment and intellectual ability. Synonymous with Asperger disorder, as defined in
DSM-IV and ICD-10.

272
 Glossary

Attachment An emotional tie involving mutual dependence in adults. In young

children the term refers to the emotional bond between an infant and one or more
adults with whom the infant feels secure and on whom s/he depends for the
satisfaction of basic and emotional needs.

Attention As used by psychologists, this term refers to those processes that ena-
ble an organism to focus at any one moment on a certain feature or features of
their sensory or perceptual experience to the relative exclusion of other features.
These processes include selective attention and attention switching.

Attention deficit and hyperactivity disorder (ADHD) A disorder present from

childhood involving distractibility, impulsivity and excessive motor activity, often
leading to academic failure and social difficulties.

Atypical autism A term used in ICD-10 (1992) synonymously with pervasive

developmental disorder not otherwise specified (PDD-NOS) in DSM-IV.

Autistic disorder The term used in DSM-IV to refer to the pervasive develop-
mental disorder characterised by impaired social-emotional and communicative
interaction with restricted and repetitive behaviour plus impaired or absent lan-
guage development and learning disability. Other terms that have been used in the
past to refer to this particular form of ASD include ‘Kanner’s autism’, ‘Kanner’s
syndrome’ and ‘classic autism’.

Autobiographical memory Memory of one’s own past experiences, contributing to

sense of self (‘Who I am’). Combines factual knowledge, such as is acquired via seman-
tic memory, for example ‘I went to France last year’, with contextual details, such as are
acquired via episodic or relational memory, for instance ‘who one was with’, ‘what the
weather was like’, ‘how much one enjoyed it’, ‘how long the trip lasted’.

Autoimmune disorders Disorders that occur when the immune system attacks
normal body components as if they were foreign invaders.

Autonomic nervous system (ANS) That portion of the peripheral nervous system
not under conscious control and concerned with vegetative functions, including
digestion, circulation and respiration.

Axon A long threadlike structure leading from the main cell body and branched
at the other end that carries information from one cell to other cells.

Basic emotions See Box 3.2.

Befriending A method of supporting an individual, couple or family through a

friendly relationship established specifically for the purpose of providing social
and practical support.

273
Glossary

Behaviourist/behavioural An approach to treatment that conceives of disturbed

behaviours as originating in maladaptive learning or conditioning, from which it
follows that these behaviours can be unlearned by systematic de-conditioning and
re-conditioning. Associated with a particular set of terms, such as ‘stimulus’, ‘rein-
forcement’ and ‘association’. Sometimes equated with learning theory (although
this latter term has numerous other uses in psychology).

Biomarker In medical usage, a reliable biological indicator of the presence in

an individual of a specific disease or mental health condition — an ‘identity tag’.
Biomarkers can take numerous forms including genetic, cellular, neurochemical or
structural markers. Ideally they occur universally in all cases of the disease/condi-
tion and are specific to that disease/condition. Cf. pathognomic.

Blind trials A term used in efficacy studies to refer to trials (a set of studies or
a sequence of tests within a single study) in which neither the actively involved
researchers nor the participants (or their families) know whether the participant
is receiving the treatment under investigation or a placebo. This is termed a double
blind trial. If only the participants (and families) are unaware of whether they are
on the treatment or on placebo, this is a single blind trial. See Box 12.1.

Body schema An abstract representation of one’s own body parts and relations
between them. Note: ‘body image’ is a non-abstract representation of one’s own
physical appearance.

Bonding/bond The formation of a strong emotional tie, or ‘bond’, narrowly

used in psychology to describe the relationship formed by the mother (or other
very close primary carer) with her newborn infant: the counterpart of the infant’s
attachment to close carers. ‘Bonding’ is sometimes more loosely used to refer to the
reciprocal emotional tie between infants and close carers.

Brain circuit See neural network.

Brain-derived neurotropic factor (BDNF) See Box 8.1.

Brain stem The stem, or ‘stalk’, of the brain leading from the spinal cord and
including core structures of the evolutionarily old brain. The most primitive part
of the brain, and the earliest part to develop during gestation.

Broader autism phenotype (BAP) <A term used to describe people who have
clinically non-significant and partial forms of the behaviours diagnostic of clini-
cally significant autism. Some of the behaviours associated with the BAP may be
beneficial to the individual, contributing to superior academic achievement and
career success. Synonymous with lesser variant autism.

Broken mirror theory A phrase sometimes used to refer to the theory that the
mirror neuron system is dysfunctional in ASD.

274
 Glossary

Candidate genes Genes for which there is some evidence, or some logical
reason, for hypothesing their possible involvement in a particular condition.
See Box 7.2.

Catatonia/catatonic state A condition in which activity effectively ceases, the

individual remaining in a fixed position for prolonged periods. Less commonly,
catatonia is characterised by ceaseless and chaotic activity.

Central coherence The tendency to look for meaning in experience. At the

sensory-perceptual level this is manifested as a tendency to perceive wholes rather
than parts (the whole barking, tail-wagging dog, rather than the sound of the bark
or the movement of the tail alone). At the cognitive level the drive for coherence
is manifested similarly as a tendency to interpret ongoing experience as wholes
rather than as parts (the whole sentence, rather than individual words; the whole
film, not just the moment when the boat sank). Cf. global processing and local pro-
cessing; see also weak central coherence.

Central nervous system (CNS) That part of the nervous system comprised of
the brain and spinal cord.

Cerebellar vermis A ‘wormlike’ portion of the cerebellum that receives and trans-
mits auditory, visual, tactile, and kinaesthetic sensory information.

Cerebellum A structure situated at the back and lower part of the brain (above
the nape of the neck), consisting of two cerebellar hemispheres and covered with
cerebellar grey matter, or cortex. Importantly involved in motor skills, and now
known to contribute also to attention, cognition, language and possibly emotion.

Cerebral cortex The outermost layer of grey matter (cell bodies and their con-
nections) of the cerebral hemispheres.

Cerebral hemispheres The two (left and right) halves of the cerebrum, each con-
sisting of a frontal, temporal, parietal and occipital lobe, as well as certain subcortical
structures.

Cerebrum The largest part of the brain, divided into a left and a right cerebral
hemisphere with a fissure between them, but functionally joined together by the
corpus callosum. Critically involved in mediating most non-vegetative functions.

Challenging behaviour ‘Hard-to-handle’ behaviours, such as hitting, biting or

having a temper tantrum, that occur usually as a result of stress or frustration,
associated with inability to express needs, wants and emotions in any other way.

Childhood autism The term used in ICD-10 corresponding to the term autistic
disorder in DSM-IV.

275
Glossary

Childhood disintegrative disorder A rare degenerative disorder (sometimes

known as Heller’s syndrome), the clinical features of which closely resemble those
of autism. However, age of onset is later than the typical age of onset for autism,
usually being between the ages of three and five years, following a period of nor-
mal development. Most cases involve a severe loss of skills and a persistently low
level of functioning. \ :

Childhood psychosis See childhood schizophrenia.

Childhood schizophrenia/early onset schizophrenia/childhood psychosis Early

diagnostic labels for ‘autism’ used before it was shown that autism/autism spec-
trum disorder is a neurodevelopmental condition in its own right.

Cognitive/cognition To do with knowing, thinking, reasoning, étc., includ-

ing sensation and perception, but excluding emotions, volition and motivation.
‘Cognitive’/‘cognition’ are commonly but incorrectly used by some psycholo-
gists and neuroscientists in place of ‘psychological’/‘psychology’, probably under
the influence of a conflation between ‘psychology’ and ‘cognitive science’. See
Footnote 2 in Chapter 1.

Cognitive empathy See Box 3.2.

Common pathway A point at which several etiological or neurobiological contrib-

utory causal factors converge to produce a single neurobiological or neuropsycholog-
ical causal factor from which ASD diagnostic behaviours were once hypothesised
to derive. Cf. single factor theory/hypothesis.

Common variants See copy number polymorphisms (CNPs).

Comorbid/comorbidity A medical term describing the co-occurrence in one

individual of two or more identifiable conditions or disorders where one is not an
integral component of the other.

Complementary and alternative medicines (CAMS) A broad group of treat-

ments, whether physical or non-physical, that are not considered within a particular
culture to have any proven efficacy or to have any theoretical rationale recognised
by that particular culture. Synonymous with alternative and allied healthcare.

Complex emotions See Box 3.2.

Comprehensive treatment model (CTM) An approach to, or method of, treat-

ment designed to alleviate/modify the set of behaviours diagnostic of ASD. CMTs
are rooted generally in a conceptual framework which underpins a set of pre-
scribed procedures and instructions as to where and by whom the treatment is
best delivered, at what intensity, and over what period of time. Cf focused inter-
vention practices (FIPs).

276
 Glossary

Concordance The occurrence of a particular trait or condition in both members

of a twin pair. Cf. discordance.

Conjunctive search (test) A test involving searching for a stimulus that has a
unique combination of features among a set of ‘distractor’ stimuli that have simi-
lar but not identical combinations of features.

Connectivity The structural and/or functional connections between individual

neurons, nuclei or specific structures in the brain; the structural and/or functional
connections within neural networks/circuits/systems.

Constructivism—constructivist model This term originally referred to a model

of child development proposed by Piaget, according to which children con-
struct their knowledge and skills on the basis of a minimal set of innate domain-
general sensory, motor and learning capacities interacting with environmental
inputs. Constructivisim (or, as it is sometimes called, neoconstructivism) now gen-
erally refers to a model of development that seeks to reconcile the Piagetian and
the modularist theories. This model maintains that children construct their knowl-
edge and skills on the basis of a set of genetically determined domain-general learn-
ing capacities and domain-specific attentional biases and predispositions operating
on environmental inputs to produce domain-specific modular capacities for, for
example, language or mindreading.

Contagious empathy See Box 3.2. Synonymous with emotion contagion and affec-
tive empathy.

Continuum Literally, something that is continuous. When used to describe

behaviours that may be associated with autism, the implication is that across indi-
viduals there is an unbroken range of ability or difference.

Copy number polymorphisms (CNPs) Refers to the most commonly occurring

copy number variations (CNVs). Synonymous with common variants.

Copy number variations/variants (CNVs) Refers to the fact that the number of
copies of a particular gene varies from one individual to the next, with deletions
or duplications being common. The most commonly occurring CNVs are referred
to as copy number polymorphisms or common variants.

Corpus callosum An extended band of grey matter consisting of axons connect-

ing corresponding regions of the right and left cerebral hemispheres.

Cortex Grey matter (predominantly cell bodies) forming the outer layers of both
new and old brain structures, including the cerebral hemispheres, the cerebellar
hemispheres and structures within the limbic system.

Cortical Of the cortex (see above).

Zit
Glossary

Cortisol See Box 8.1.

Counterfactual reasoning Reasoning based on a fictional/false supposition, for

example, ‘If the sky were yellow, it would be the same colour as lemons’.

Crossover designs See Box 12.1.

Crystallised intelligence A form of intelligence that consists of accumulated

knowledge, the acquisition of which depends on culture and learning opportuni-
ties. Cf. fluid intelligence.

Cytokines Proteins secreted by specific cells of the immune system to mediate

and regulate immunity, and to counteract infection, inflammation and some forms
of disease. They also have a role in reproduction. iP

Declarative memory Conscious or ‘explicit’ forms of memory that can be

reflected on and reported. Includes memory for personally experienced events
(episodic memory) and factual memories/knowledge (semantic memory).

Default mode network (DMN) A neural circuit that is activated when the indi-
vidual is awake but not engaged in any outward-directed task. They may be think-
ing about themselves, thinking about others, recalling past events, thinking about
the future, or thinking about nothing in particular. The DMN consists of a known
set of interconnected brain regions. However, different but overlapping groups of
structures may be involved in thinking about self, thinking about others, and in
thinking about past and future.

Deixis/deictic terms A term used by linguists to refer to words the meaning of

which is dependent on the identity of the speaker, and where and when they are
speaking. Examples include ‘you’, ‘here’ and ‘now’.

Dendrites Branch-like structures attached to neurons, which receive information

from the axons of other neurons.

Descriptors A term introduced in the DSM-5 definition of ASD to cover, first,

the severity of the diagnostic behaviours as they occur in any individual, and sec-
ondly, the presence of any significant additional condition or factor. Cf. specifiers.

Design fluency test A test of the ability to generate a varied range of patterns,
shapes or representations of objects utilising a limited number of given constitu-
ents. See fluency.

Developmental dyslexia Inability to learn to read to the expected standard in

the absence of any obvious cause, such as significant visual impairment, learning
disability or lack of learning opportunity. Often associated with poor spelling and
writing, and sometimes with poor arithmetical ability.

278
 Glossary

Developmental trajectory The passage or course of development and change

over the lifespan.

Diagnostic pathway ‘Pathway’, as used here, refers to a set of recommendations

relating to procedures and practices, the succession and timing of these, and the
personnel involved, designed to ensure best practice in health care. Recommended
diagnostic pathways may differ across regions and countries, and also across time,
according to current knowledge, culture and available services.

Differential diagnosis Diagnosis that includes consideration not only of what

a condition is, but also what it is not: distinguishing one condition from another.

Discordance The occurrence of a particular trait or condition in one member of

a twin pair but not the other. Cf. concordance.

Dissociable/dissociation If psychological or neuropsychological phenomenon

A can occur independently of phenomenon B, then A and B can be described
as dissociable. If B can also occur independently of A, A and B can be
described as ‘doubly dissociable’ or constituting an example of a ‘double dis-
sociation’. Hearing impairment and visual impairment are doubly dissociable.
Communication impairment and language impairment in autism, however, are
merely dissociable (because communication impairment can occur without
language impairment, but not vice versa).

Distal Most distant; furthest away. The opposite of proximal.

Dizygotic (DZ) (twins) Twins who develop from different fertilised eggs and
who do not share identical genotypes. Cf. monozygotic twins.

Domain-general Pertaining to a broad range of skills and knowledge, and/or the

acquisition of such skills/knowledge. For example, sensory capacities, attention,
representational abilities, memory.

Domain-specific Pertaining to a particular area of knowledge and/or set of

skills, for example language, mathematics, music or mindreading/theory of mind.
Associated with modularist models of brain/mind organisation and development.

Dopamine See Box 8.1.

Double blind trials See blind trials.

Down (Down’s) syndrome A developmental condition identified by Dr Langdon-

Down in the nineteenth century, resulting from abnormal genetic material on
chromosome 21. Characterised by a distinctive set of physical, psychological and
health anomalies, not all of which are present in all cases, allowing a broad range
of developmental outcomes. See also Box 7.1.

279
Glossary

Dyadic interaction In social psychology, a face-to-face encounter or interaction

between two people referred to as a ‘dyad’, for instance mother-child dyad or
husband-wife dyad. In developmental psychology, closely similar in meaning to
primary intersubjectivity, though with less emphasis on shared affect and awareness
of self-other correspondence.

Dyspraxia Partial loss of the ability to perform voluntary movements. Cf. verbal
apraxia.

Echolalia Speech in which the words used by another person are repeated more
or less exactly, with the same stress and inflexion, either immediately (‘immedi-
ate echolalia’, which is usually reflexive) or some time later (‘delayed echolalia’,
which may be used communicatively).

Efficacy study A scientific study of the effectiveness of a treatment or other

form of intervention designed to cure or alleviate a medical condition or disorder.
See Boxes 12.1 and 12.2.

Elective mutism See selective mutism.

Electroencephalography (EEG) A method of recording electrical activity in the

brain involving placing electrodes on the scalp that pick up changes in electrical
potentials in underlying brain regions.

Embryo The developing organism in utero from two to eight weeks post-conception
(in humans). Cf fetus.

Emotion contagion See Box 3.2. Syonymous with affective or contagious empathy.

Empathising system See Box 3.2. NB: The Empathising SyStem (TESS) is
sometimes used narrowly by Baron-Cohen to refer one of the set of hypothetical
modular capacities underlying mindreading.

Empathy See Box 3.2 and the asterisked footnote.

Enhanced discrimination—reduced generalisation theory A theory proposed by

Plaisted and colleagues based on the observation that, whereas unique combina-
tions of features of a stimulus are discriminated better by individuals with ASD
than by non-autistic individuals, shared or similar features are less salient than for
non-autistic individuals.

Enhanced perceptual function (EPF) theory A theory first proposed by Mottron

and Burack in 2001, the main tenet of which is that superior low-level perceptual
functioning leads to a restriction of interests in favour of preoccupation with
perceptual processing within a selected domain.

280
 Glossary

Epidemiology The study of the incidence, prevalence and distribution of diseases.

Epigenetic To do with changes in gene expression caused by external factors

rather than by changes in the DNA sequence.

Episodic memory See Box 9.3. Synonymous with relational memory.

Etiology/etiological The study of the initial or first causes of a disease or disor-

der. (Sometimes spelt ‘aetiology’.)

Executive functions The set of cognitive processes that are involved in the organ-
isation and control of mental and physical activity, including attention, generativity,
inhibition and action monitoring. Derives from an analogy with computers, in which
a master program controls and directs all the software programs on the machine.

Explanatory power The capacity of a hypothesis or theory to explain its subject

matter. Explanatory power varies according to the strength of the evidence and
arguments adduced in support of a theory, the precision and parsimony of the
theory, and its predictive power (among other measures).

Explicit theory of mind Conscious knowledge of another person’s mental state,

for example what another person has seen, is feeling, knows etc., as well as con-
scious knowledge of one’s own mental states, plus the ability to reflect on one’s
own and others’ mental states and to predict (verbally, if requested) another per-
son’s behaviour in the light of this knowledge.

Extreme male brain (EMB) theory The theory that autism is associated with an
extreme version of the typical male brain, including an abnormally strong capacity
for systemising and an abnormally weak capacity for empathising.

False belief test/task Any test of the ability to understand that another person
may believe something to be true that is in fact false, and to predict the other
person’s behaviour on the basis of their false belief.

False negative When used in the context of screening or diagnosis, this refers to a
failure to identify the presence of a particular disease or condition in an individual
who is suffering from that disease/condition.

False positive When used in the context of screening or diagnosis, this refers to
the incorrect identification of a particular disease or condition in an individual
who is not affected by that disease/condition.

Familial Characteristic of a family. Inherited characteristics that are familial are

those that tend to run in families, as opposed to those that occur as a result of
sporadic variation or damage to genetic material.

281
Glossary

Fetus The developing organism in utero from the eighth week post-conception
(in humans). Cf embryo.

Fidelity This term has various meanings within psychology. When used in rela-
tion to psychosocial or behavioural treatments, it refers to the extent to which a
treatment is carried out in conformity with the precise instructions relating to that
intervention.

Fine cuts A term coined by Frith and Happé to refer to the phenomenon, which
is striking in autism, of two closely related abilities being unimpaired in one case
and impaired in the other (e.g. protoimperative and protodeclarative pointing).

First-degree relatives An individual’s biological parents and biological siblings.

Fluency/fluency tests. As used by psychologists, ‘fluency’ generally means the abil-

ity to produce a number and variety of words, images or ideas in response to a
prompt or cue. Synonymous with generativity in the sense of capacity to produce
novel outputs.

Fluid intelligence A form of intelligence that involves the ability to perceive relation-
ships between stimuli and to reason logically and abstractly. Thought to be genetically
determined, at least in part, rather than critically dependent on culture or learning
opportunities. Synonymous with general intelligence (‘g'). Cf. crystallised intelligence.

Focused intervention practice (FIP) FIPs are designed to instantiate or strengthen

specific adaptive skills/abilities or to alleviate or eliminate specific maladaptive
habits/behaviour problems. Most FIPs are based on a conceptual framework and
methods adopted from learning theory. Cf. comprehensive treatment model.

Formulaic language/formulaicity Rigid, invariable phrases, expressions or gram-

matical ‘frames’. For example, ‘Many happy returns of the day’, ‘Dead as a dodo’,
“Want (Mummy, Daddy, X, Y, Z) do it’.

Fragile-X (FRA-X) syndrome The most common inherited cause of mild to

moderate learning disability, resulting from an abnormality on the X-chromosome
and therefore manifesting differently in males and females (see sex-linked). Also
characterised by a number of physical and behavioural anomalies, some of the
latter resembling behaviours seen in autism. See also Box 7.1.

Frontal lobe(s) The lobe that lies at the front of each cerebral hemisphere. See
Figure 8.1. The most recently evolved component of the cerebral cortex, involved
in several higher-order or human-unique functions, including language and theory
of mind.

Functional magnetic resonance imaging (fMRI) A method of assessing brain

activity. See Box 8.4.

282
 Glossary

Functional pretend play/pretence Pretend play in which either real-life objects

Or miniature versions of real-life objects are used with their conventional func-
tions, for example a real comb, or a doll-sized comb, used to ‘do dolly’s hair’. Cf
symbolic play/pretence.

Future thinking Thinking forwards in time as the converse of episodic memory,

which involves ‘thinking backwards in time’. Future thinking and episodic mem-
ory may be envisaged as involving ‘mental time travel’. Both are subserved by the
default mode network.

Gamma-amino-butyric acid (GABA) The most important Bete neuro-

transmitter in the brain. See Box 8.1.

Gaze following The strong tendency among typically developing infants to turn
to look in the same direction in which another person turns their head to look.
Sometimes referred to as ‘gaze monitoring’.

General intelligence (‘g’) A predominantly innate capacity for learning, reason-

ing, problem solving and abstract thinking that makes a measurable contribution
to performance on all tests of intelligence. Often referred to as ‘g’. Synonymous
with fluid intelligence.

Generalise/generalisation The process of extending knowledge or skills gained

from a limited set of stimuli or life experiences to include other related, but
non-identical, stimuli or experiences.

Generativity A term borrowed from linguistics, where it refers to the fact that an
infinite number of different sentences can be generated from a finite set of words
and grammatical rules. More loosely, ‘productivity’ and, in psychology, fluency.

Genetic variant/variation Any variations within a gene, including a copy number

variation (CNV), a single-nucleotide polymorphism (SNP) or a mutation.

Genome The full set of genes of any individual organism.

Genotype The genetic constitution of an organism; a set of hereditary factors

that influences, but does not fully determine, the development of an organism.
Sometimes used to refer to the genetic make-up of a particular group of organ-
isms/individuals.

Glial cells/glia The supporting cells in the central nervous system that serve pro-
tective, nutritional and other ‘housekeeping’ functions for the information-carrying
neurons and their projections.

Global network A neural network made up of the co-ordinated activity of several

local networks, and mediating complex, multidimensional and multimodal experience.

283
Glossary

Global processing A term used in the psychology of perception, referring to the

tendency to perceive complex stimuli as wholes rather than to perceive individual
parts of a stimulus. Cf. local processing, also central coherence.

Glutamate The most important excitatory neurotransmitter in the brain. See

Box 8.1. : C

Grey literature Literature (in print or electronic form) within a field of study
that has not been authoritatively peer-reviewed prior to publication.

Grey/gray matter Brain tissue made up of cell bodies that are greyish-brown in
colour. Cf white matter.

Guardian ad litem An individual with legal responsibility to care’for the inter-

ests of another person who, for whatever reason, is deemed unable to do this for
themselves.

Gyrus/gyri Ridges on the cortical surfaces of the brain which, in combination

with sulci, significantly extend the cortical surface area.

Herpes encephalitis Inflammation in the brain, usually including regions of the

limbic system, caused by one of the several herpes viruses.

Heterogeneous/heterogeneity Variety or difference. The opposite of homogeneous.

Hippocampus A seahorse-shaped structure in the interior of each temporal lobe.

Part of the limbic system.

Homogeneous/homogeneity Similarity or overall sameness. The opposite of

heterogeneous.

Hyperacusis/hyperacusic Excessively sensitive hearing, sometimes restricted to

certain sounds or groups of sounds, capable of causing actual distress.

Hypercalculia A specific developmental condition in which the ability to per-

form mathematical calculations is significantly superior to general learning ability
and to school attainment in maths.

Hyperlexia A specific developmental condition in which the ability to read

aloud with reasonable accuracy is significantly superior to reading comprehension.
Cf. mechanical reading.

Hypersystemising Unusually strong tendencies to systemise.

Hypertonia/hypertonic Excessive muscle tone, i.e. tension or rigidity in the muscles.

The opposite of hypotonia.

284
 Glossary

Hypo-priors Poorly defined or narrowed prototypes or priors.

Hypothalamic-pituitary-adrenal axis (HPA) An interactive system comprising

the hypothalamus and the pituitary gland in the brain, and the adrenal glands on
the kidneys, that is a major part of the neuroendocrine system that controls reac-
tions to stress and regulates various bodily processes.

Hypotonia Lack of normal muscle tone, i.e. floppiness and lack of power in the
muscles. The opposite of hypertonia.

Ideational fluency test A test of the ability to generate a varied range of func-
tions or uses of a limited number of given constituents. See fluency.

Idiopathic Describes any medical condition or disorder that arises from within
the individual, or some part of the individual, in the absence of any known exter-
nal factor. More loosely, the term is used to describe conditions the causes of
which are unknown.

Immediate memory See Box 9.3.

Implicit theory of mind Unconscious knowledge of another person’s mental

state, for instance what another person has seen, is feeling, knows, etc.

Incidence Refers to the number of new cases of a disease or disorder reported in

a given period of time.

Inclusion As used here, this term refers to the moral right of every person to
be included as a valued member of their society and not discriminated against
because of difference.

Insistence on sameness (IS) That kind of repetitive-restricted behaviour that

manifests as a strong preference for environments and behaviours that reduce
novelty and promote predictability for the individual. Resistance to change.

Intelligence quotient (IQ) The number derived either from a table (as in the
Wechsler scales) or from dividing an individual’s mental age as measured on an
intelligence test by their chronological age and multiplying by 100. Note that in
the Wechsler scales, ‘IQ’ is referred to as ‘Full Scale IQ’ (FS-IQ). See Box 4.1.

Joint attention A state of attention in which two (or more) individuals are not
only attending to the same object, person or event, but also know that the other
person is attending to it; thus they have knowledge of the other person’s mental
state. Synonymous with shared attention. Cf. also triadic interaction/relating.

Joint laxity A condition in which the ligaments of a joint do not hold the joint
tightly in place, allowing for ‘hypermobility’, colloquially ‘double jointedness’.

285
Glossary

Kinaesthesia/kinaesthetic A feeling of movement; to do with the experience of

one’s own body movements. A specific component of proprioception.

Lateralisation The process by which different functions and processes come to

be mediated by one or the other side of the brain.

Learning disability The currently preferred term for what used to be referred
to (and sometimes still is) as ‘mental retardation’, ‘general learning disability’ or
‘intellectual disability’. All these terms are defined in terms of a combination
of subaverage intelligence (as measured on standardised tests) and poor day-to-
day adaptive, or coping, abilities. Note that in the UK the term ‘specific learning
impairment’ refers to selective, as opposed to generalised, learning difficulty (as in,
for example, developmental dyslexia or specific language impairment).

Learning theory A term used with various meanings by psychologists (and oth-
ers). In the context of non-physical treatments for ASD, however, the term is
generally associated with behaviourist methods of intervention in which learning
is conceptualised as a form of conditioning.

Lesion Any impairment or flaw in body tissue produced by an injury, disease or

surgery.

Lesser variant autism See broader autism phenotype.

Lexical semantics See semantics.

Limbic system A set of evolutionarily old structures in the interior of the brain
including the amygdala and hippocampus; important for emotion, motivation and
declarative memory.

Local network A circuit involving relatively few nuclei situated close together in
the brain.

Local processing A term used in the psychology of perception referring to the

tendency to perceive the individual parts of a complex stimulus rather than to
perceive wholes. Cf. global processing and central coherence.

Macrocephaly A condition in which the head is notably enlarged.

Maladaptive behaviour Behaviour that is inappropriate and ultimately not con-

ducive to the individual’s survival and wellbeing, though it may achieve immedi-
ate or short-term goals. Cf. adaptive behaviour.

Manifest behaviour Instances of any individual’s day-to-day behaviour such as

might come under generalised headings such as ‘impaired social interaction’, ‘lack
of emotional reciprocity’, ‘restricted and repetitive behaviour’, etc.

286
 Glossary

Mechanical reading Reading aloud with correct pronunciation, but without

comprehension. A form of hyperlexia.

Mental age (MA) Level of development or achievement expressed in terms of

the chronological age (CA) at which this level would be average or prototypical.
In a completely average child MA = CA; in a child with superior ability
MA > CA; in a child with developmental delay MA < CA. Sometimes referred to
as ‘age equivalent’ or ‘developmental age’.

Mental set A state of mind in which there is a preparedness to respond in a par-

ticular way (e.g. to press the buzzer when a circle (but not a square) appears; to
perceive a particular face (not others) in a crowd).

Mental state A perception, feeling, desire, thought, belief or other item of knowl-
edge or feeling that, according to representational models, exists in the mind and
corresponds to a specific pattern of neural activity in the brain.

Mentalising ability The ability to form representations of other people’s and

one’s own mental states.

Meta-analysis An analysis of the results of several research studies investigating

a particular phenomenon.

Metarepresentation Crudely, ‘a representation of a representation’. For example, a

drawing of a house is a representation of a house; but a photograph of the drawing is a
metarepresentation. Metarepresentation of mental states, our own and those of others,
enables us to compare an original representation with its re-representation, to reflect
on and reason about them, and to make predictions about others’ behaviour based on
similarities and differences between the status of the original and that of the ‘copy’.

Mindreading Colloquially, the ability to ‘read’ other people’s thoughts. In the

psychological and especially the autism literatures, the term has the broader mean-
ing of the capacity to represent in one’s own mind the perceptions, thoughts, feel-
ing of oneself and others, either unconsciously (see implicit ToM) or consciously
(see explicit ToM). Explicit mindreading/theory of mind ability enables the indi-
vidual to reason about, and to explicitly predict, others’ behaviour. Dependent on
the ability to mentalise.

Minicolumn A column of around 100 interconnected neurons running vertically

through cortical layers of the brain. Thought to play an essential role in the organ-
isation of cortical pathways and functional connections. There are an estimated
200 million of these microscopic structures in human cortex.

Mirror neurons/mirror neuron system (MNS) A set of motor neurons that fire
when an individual performs an action, and which are also active when the same
action is seen to be performed by another individual of the same species (human
or primate, according to current research). See also broken mirror theory.

287
Glossary

Module/modular/modularism/modularist Modularism is the theory that the

brain/mind is largely organised in the form of discrete domain-specific, genetically
specified processing systems (modules), associated with particular neural struc-
tures and circuits that are innately programmed to develop at a particular time and
in a predictable sequence in all individuals of a particular species. Contrasts with
(neo)constructivism. \

Monotropic attention Attention to sensory inputs from one modality only, to the
exclusion of information from other sensory channels.

Monozygotic (MZ) (twins) Twins who develop from the same fertilised egg,
and who have identical genotypes. Cf. dizygotic (twins).

Morphology/morphemes/morphosyntax See Box 4.2.

Motor (skills) To do with bodily positioning and movement; the set of capacities
and processes involved in the initiation, execution and control of bodily posture
and movement.

Multiplex families Families in which more than one person has ASD, and/or
close relatives fall within the broader autism phenotype.

Myelin sheath The whiteish-coloured tube made up of glial cells that protects an
axon and insulates it from other axons.

Necessary cause Any causal factor without which a particular effect cannot
occur. Cf. sufficient cause.

Neoconstructivism See constructivism.

Neologism A made-up word; a newly invented expression.

Nerve tract A bundle of myelinated nerve fibres following a path through the
brain.

Neural network/circuit/system A set of brain nuclei, or brain structures, and

their neural connections, subserving a particular function or related set of func-
tions. Analagous to an electrical circuit dedicated to a specific function or set of
functions.

Neurobiology/neurobiological Branch of biology that deals with the structure

and function of the nervous system including the brain.

Neurochemistry Study of the chemical constituents of the nervous system, their

processes and functions.

288
 Glossary

Neurodevelopmental disorder Any brain-based condition that manifests from

early childhood by disrupting normal psychological development, generally in
ways that may be termed ‘specific’ or ‘selective’. Thus, conditions such as specific
language disorder or attention deficit disorder fall under the heading of ‘neurode-
velopmental disorder’, whereas pervasive learning disability (mental retardation) is
less likely to be so described.

Neurodiversity Refers to the belief, or argument, that many conditions conven-

tionally considered pathological, including ASD, result from normal variations
within the human genome comparable to those that contribute to variations
in sexual orientation or ethnicity. It follows that people with such conditions
should be accepted and valued as ‘different’ rather than being described as ‘sick’
or ‘disabled’.

Neuromodulator A naturally secreted substance (usually a neuropeptide, e.g. oxy-

tocin, vasopressin) that acts like a neurotransmitter except that its operates not only
at synapses but also more widely, and often over whole neural circuits/networks.

Neurons The information-processing and information-transmitting elements of

the nervous system. Synonymous with ‘nerve cell’.

Neuropsychology/neuropsychological Study of the interface between brain and

mind, where fundamental/irreducible psychological processes or behaviours can
be identified with the structures and functions of the brain that subserve them.

Neuroreceptors Molecules within neurons that are selectively responsive to par-

ticular neurotransmitters.

Neurosis A personality or mental disturbance not resulting from any known bio-
logical cause. Sometimes equated with any mental health disorder in which an
individual does not lose touch with reality (in contrast to psychosis).

Neurotransmitter Chemical substances released by one neuron to stimulate or

inhibit activity in other neurons.

Neurotrophins Chemical substances that influence the growth of neurons and

their connections.

Neurotypical Neurobiologically normal, especially in terms of brain structure

and function. Cf. typicality/typical/typically developing.

Nicotinic receptors Proteins that respond to acetylcholine and also to some

drugs, including nicotine. Widely distributed in both the CNS and the PNS with
multiple functions within the autonomic nervous system and also the motor
output system.

289
Glossary

Non-specific factors Factors that may influence the outcome of a piece of

research (e.g. an efficacy study) that are not controlled for in the research. Such
factors are often ongoing, or background, factors, such as the motivation of an
individual to participate or their expectations of the outcome.

Nonverbal abilities/nonverbal intelligence Reasoning and problem solving abil-

ities that are not dependent on the use of language, for instance visual-spatial
constructional skills, pattern perception and manipulation. For examples of tests
of nonverbal intelligence, see Box 4.1.

Nonverbal communication Communication achieved by means other than lan-

guage, for example by facial expressions; body postures, orientation and movement;
body odours or odours of specially emitted body substances; touch; vocalisation
and other sounds. sou

Nonverbal IQ/NVQ See Box 4.1. NB: in the Wechsler tests, nonverbal IQ/NVQ
are referred to as ‘performance IQ/PQ’.

Noradrenalin/norepinephrine See Box 8.1.

Normalisation The principle according to which people with disabilities should

be enabled to have lives as similar as possible to those of people without disabili-
ties; they should be enabled to achieve good quality of life; and they should have
the same human rights as people without disabilities.

Nucleus The central region of a cell, containing the chromosomes; or a cluster of

neurons, all of which are involved in transmitting and receiving the same information.

Nuclei Plural of nucleus in either sense, but most commonly used to refer to
clusters of neurons.

Obsessive-compulsive disorder (OCD) A specific form of anxiety disorder

characterised by recurrent and persistent thoughts and compulsions to carry out
repetititive and ritualised behaviours.

Occipital lobe(s) One of the lobes of the cerebrum, situated at the back of the
skull (see Figure 8.1). Contains the primary visual cortex, where visual informa-
tion is processed.

Open/open label designs See Box 12.1.

Oppositional defiant disorder (ODD) Defined in DSM-5 as a persistent pattern

of angry/irritable mood, argumentative/defiant behaviour, or vindictiveness.

Optimal outcome (OO) The term used to refer to instances of recovery from
ASD, i.e. instances where a person who was once diagnosed with ASD no longer
qualifies for this diagnosis.

290
 Glossary

Oscillations Rhythmic electrical activity generated spontaneously and in response

to stimuli within the central nervous system, colloquially referred to as ‘brain waves’.

Over-focused attention See over-selective attention.

Over-selective attention Attention directed at a single feature of a stimulus when

it would be more usual or appropriate to attend to a broader range of features. For
example, focusing solely on the colour of an object instead of seeing the object as
a whole, including colour, shape, size, texture, etc. Synonymous with over-focused
attention; see also selective attention.

Oxytocin See Box 8.1.

Parallel design See Box 12.1.

Parietal lobe(s) One of the lobes of the cerebrum situated behind the frontal
lobe, above the temporal lobe, and in front of the occipital lobe (see Figure 8.1). The
primary sensory areas for pain, pressure, and touch. Also involved in spatial orien-
tation, language development and attention.

Pathognomic A description of physical or behavioural ‘trademark’ signs of a spe-

cific disease or mental health condition. Cf biomarker.

Peer review The process by which scholarly articles are critically assessed by
other experts in the same field when submitted for publication. Determines
whether or not an article is accepted for publication, and acceptance is often sub-
ject to conditions designed to improve the work reported or the report itself, as
suggested by the reviewers.

Perception The processes that give coherence and meaning to sensory input.

Perceptual memory See Box 9.3.

Peripheral nervous system (PNS) That part of the nervous system that is not
contained within the brain and spinal cord. Connects the central nervous system
(CNS) with the rest of the body.

Peripheral vision Vision using the peripheral parts of the retina (colloquially,
seeing things out of the corners of the eyes).

Perseveration/perseverative The tendency to continue to do something or con-

tinue in a particular line of thought inappropriately, with the implication that the
persistence or repetition is maladaptive/pathological.

Pervasive developmental disorder not otherwise specificied (PDD-NOS) A diag-

nostic term used in DSM-IV to describe individuals with mild, partial or atypical
forms of autism-related behaviours. Synonymous with atypical autism in ICD-10.

291
Glossary

Pervasive developmental disorders (PDDs) A group of five disorders charac-

terised by delays in the development of multiple basic functions including social-
isation and communication. According to DSM-IV, the group consists of autistic
disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified,
Rett syndrome and childhood disintegrative disorder.
a

Pervasive mutism A poorly understood and little-researched condition in which

an individual understands at least some language but is unable to produce any
voluntary and intentional form of communicative output.

Phenotype The outcome of the interaction between a genotype and environmen-

tal factors in an individual, as manifested in the structure, function and behaviour
of the individual. Sometimes used to refer to outcomes characteristic of a particu-
lar group of individuals, for example autism phenotype, broader autism ‘phenotype.

Phenylketonuria (PKU) An inherited disorder of protein metabolism which, if

untreated, arrests brain development and causes learning disability. See also Box 7.1.

Phoneme/phonology/phonotactics See Box 4.2.

Phonological loop See Box 9.3.

Pica A compulsion to eat non-edible substances, for example grass, earth, paper.

Placebo A substance with no medicinal properties, administered as a control

condition in efficacy studies of drug or dietary treatments (see Box 12.1). Also
sometimes used by doctors for the psychological benefit of a person complaining
of a condition for which there is no detectable organic cause, or in cases where
medication is likely to be ineffective or inappropriate.

Plasticity A term used in neurobiology to refer to the adaptability of the brain in

terms of which nuclei/circuits/regions carry out specific functions.

Pleiotropic A term used in genetics to refer to any gene that contributes to many
different phenotypic outcomes.

Polydipsia Excessive thirst; a pathological compulsion to ingest liquids.

Polygenic A pattern of inheritance involving many genes that applies to charac-

teristics which vary continuously, such as height, gender orientation, intelligence.

Prader-Willi syndrome An inherited condition manifesting from birth and char-

acterised by learning disability, immature physical development, emotional insta-
bility, hypotonia and excessive appetite. See also Box 7.1.

Pragmatics Knowledge of the rules and conventions governing the choice of

words and word forms used in any instance of actual conversation.

292
 Glossary

Predictive value A measure of the efficacy of a screening test based on the accu-
racy with which a particular test predicts the proportion of individuals in the
general population who have a particular disease or disorder as compared to the
proportion who do not.

Prevalence The total number of cases of a disease or disorder in a specified pop-

ulation at a particular point in time.

Primacy criterion A yardstick for assessing the validity of a theory/hypothesis

concerning the causes of a disorder or a particular facet of a disorder based on the
fact that cause always precedes effect.

Primary intersubjectivity The earliest forms of one-to-one co-ordinated inter-

action between infants and carers, in which infants indicate some awareness of
the sameness between themselves and other people (self-equivalence). Similar
to dyadic interaction, but with greater emphasis on emotion sharing. See also
secondary intersubjectivity.

Priors A term introduced and used by Pellicano and colleagues in their ‘hypo-
priors’ theory. Synonymous with prototypes.

Proband A term used in studies of the genetic origins of mental or physical dis-
orders to refer to the affected individual within a family.

Procedural memory See Box 9.3.

Prodromal autism A developmental stage that precedes diagnosable ASD, but

during which some early indications of ASD may be retrospectively detectable
(e.g. from home videos). Synonymous with ‘incipient autism’.

Prognosis The predicted course and eventual outcome of a particular disease or

disorder in medical terminology.

Programmed Genetically determined to occur at a certain time in a certain

sequence. An expression used in discussions of development and behaviour, based
on an analogy between brains and computers. Synonymous with ‘hardwired’.

Proprioception/proprioceptive A general term used to refer to all those sensory

systems that are involved in providing information about position, location, orien-
tation, and movement of one’s own body/body parts.

Prosody See Box 4.2.

Prospective studies Research studies of groups selected before there are any
signs of the onset of a particular condition, then studied to determine if, when and
how a condition such as ASD first manifests. Groups participating in prospective
studies are often selected on grounds of likely risk, for example younger siblings of
a child with ASD. Cf. retrospective studies.
Glossary

Protoconversation Conversation-like, turn-taking exchanges of vocalisations and

other nonverbal communication signals between prelinguistic infants and carers,
often initiated as well as maintained by the infant.

Protodeclarative (pointing) Communication for the sake of sharing something of

interest with another person, often by pointing at the object or event of interest;
but it can also involve bringing something to show another person or drawing
attention to something using language. Associated with joint/shared attention.

Protoimperative (pointing) Communication designed to obtain something an

individual needs or wants, sometimes by pointing, sometimes by asking, some-
times by taking another person towards a wanted object or guiding their hand
towards it. .

Prototype An abstract representation of the most typical instance of a class or

category of things, based on the shared features or functions of individual instances
of the class or category.

Proximal Nearest; most immediate. The opposite of distal.

Pseudo-autism A term used to describe cases in which an individual has the

behaviours characteristic of autism or resembling those of autism, but where the
causes and course of those behaviours differ from those of ASD. So, for example,
‘autism’ or ‘autistic-like behaviours’ associated with blindness or with extreme
deprivation in early childhood may be described as cases of pseudo-autism.
Synonymous with quasi-autism.

Psychic akinesia A rare neurological condition characterised by extreme passiv-

ity, apathy and profound generalised loss of self-motivation; affected individuals
describe themselves as having a complete mental void or blank. However, com-
plex physical and mental tasks can be carried out under instruction, and with
prompts to continue.

Psychosis/psychotic A severe personality or mental disturbance, usually of bio-

logical origin though precipitating experiences may also be involved. Sometimes
equated with any mental health disorder in which an individual loses touch with
reality (in contrast to neurosis).

Psychosocial (interventions) Interventions in which social interaction is the

main vehicle for changing behaviour. Overlaps with behavioural interventions, in
which there is less emphasis on social interaction.

Purkinje cells Large branching neurons found in the cortex of the cerebellum.

Quasi-autism See pseudo-autism.

294
 Glossary

Randomised control trial (RCT) See Box 12.1.

Reelin See Box 8.1.

Referent The entity, or ‘thing’ in the real world that a word stands for.

Regressive autism A diagnostic or descriptive term used to describe cases in

which behaviours associated with autism appear in children, usually after the age
of three years, and following ostensibly normal early development. Synonymous
with late-onset autism.

Relational memory Memory for complex, multimodal stimuli and events, includ-
ing contextual information. Synonymous with episodic memory.

Reliable/reliability When used to describe an assessment procedure or diagnos-

tic test, implies that the test in question produces consistent results when used
under different conditions, for example when administered to an individual by
different testers or to an individual on different occasions. Various aspects of test
reliability can be assessed statistically. Cf. valid.

Repetitive sensory-motor stereotypies (RSMs) That group of repetitive-restricted

behaviours which consists of movements or self-stimulatory behaviours such as
hand-flapping, rocking, or habitually sifting sand through the fingers.

Representation A construct used in philosophical and some psychological theo-

ries concerning the mind, its properties and functions. Such theories envisage the
mind as furnished with images or ‘copies’ representing, or standing for, things in
the external world, experienced feelings, abstract ideas, etc. Cf. metarepresentation.

Respite care Care of an individual by someone or some organisation outside the

family (or other full-time carer(s)), for a period of time, often on a regular basis
(e.g. one night a week for a child). Provides carers with some respite from their
responsibilities to the individual, and provides the individual with the opportunity
to extend their social relationships and life experiences.

Reticular activating system A brain system originating within the brain stem that
modulates arousal levels among other functions.

Retrospective studies Research studies that use information from the past to
identify the earliest signs of, or risk factors for, a disease or mental health condition.

Rett (Rett’s) syndrome A rare degenerative disorder occurring only in girls, and
which at various stages in its course involves hand stereotypies resembling those
that occur in some people with autism, and also loss of language and some degree
of social withdrawal.

295
Glossary

Salience network This relatively recently identified brain circuit is thought to

mediate the allocation of attention to whatever stimuli are most relevant, or ‘sali-
ent’, at any one particular time; to modulate autonomic responses to salient stim-
uli; and to link with the motor system to initiate stimulus-appropriate action. Key
brain structures are the insula (which detects salient events and initiates autonomic
responses) and the anterior cingulate cortex (which links to the motor system).

Savant Someone with savant abilities.

Savant abilities Abilities that are outstanding by comparison with those of mem-
bers of the general population, and even more striking because they occur in indi-
viduals with modest or low intellectual ability and, frequently, autistic features
of behaviour. Examples of savant abilities have been documented,in the fields
of arithmetical calculation, drawing, musical memory and improvisation, foreign
language learning, and poetry writing.

Schizoid personality disorder A mental health disorder characterised by emo-

tional coldness and impaired reciprocal social interaction, abnormalities of verbal
and nonverbal communication, and obsessive interests. See Box 2.1.

Screening A process of administering clinical tests either to whole populations

or to selected populations with the purpose of either making a provisional diagno-
sis of the presence/absence of a particular disease or disorder in individuals within
the population tested or to estimate the probability that certain individuals within
the population have, or may later be found to have, a particular disease or disorder.

Secondary intersubjectivity Essentially synonymous with triadic relating, but

with greater allowance for the role of emotion sharing. Cf. primary intersubjectivity.

See-saw effect Refers to the compensatory use of an intact capacity when a

related capacity is absent or impaired.

Selective attention The process involved in situations involving complex stimuli

from which a single stimulus or stimulus feature is selected as the attentional
focus. Cf. over-selective/over-focused attention.

Selective mutism A rare condition in which an individual who understands and

can use language normally is inhibited (usually by pathological anxiety) from
speaking to particular individuals or in particular locations or contexts, whereas
they speak normally in other situations. Synonymous with elective mutism.

Self-injurious behaviours (SIBs) A form of repetitive sensory-motor stereotypy

(RSM) which causes physical injury to the person engaging in the RSM.

Self-monitoring The process of comparing one’s intended action with the actual
ongoing action one is carrying out. Differentiate from action—outcome monitoring.

296
 Glossary

Self-other equivalence mapping The unconscious identification of sameness, or

equivalence, between oneself/one’s own body parts and other members of the
human species/their body parts. Possibly mediated by mirror neurons.

Self-regulation/self-regulatory system In psychology and physiology, a mecha-

nism operating to maintain an organism or some facet of an organism’s functions
in adaptive equilibrium with its environment.

Semantic memory See Box 9.3.

Semantic-pragmatic language disorder A form of specific language impairment in

which semantics and pragmatics are selectively impaired, leaving phonology/articu-
late and syntax relatively intact.

Semantics/lexical semantics ‘Semantics’ may be used to refer to the network

of conceptual knowledge underlying language. However, ‘semantics’ is also com-
monly used to refer to knowledge of linguistic meaning, whether at the level of
individual words, phrases or sentences. ‘Lexical semantics’ refers only to knowl-
edge of linguistic meaning.

Sensation/sensory processing The processing of raw data from the senses prior
to the processes associated with perception.

Sensitivity (As used in the context of screening tests.) A measure of the efficacy
of a screening test based on the proportion of those tested who are correctly iden-
tified as having the disease or disorder being screened for, relative to the propor-
tion who have the disorder but are not identified. Associated with a low level of
false negatives. High sensitivity (i.e. a high proportion) is desirable.

Sensory modulation Variation of the impact of incoming experience on the

senses, for instance increasing or decreasing sensitivity to a particular sound or
class of sounds. Partly physiologically determined by states of arousal, but may be
partly controlled by attentional processes.

Sensory seeking An interpretation of repetitive, self-stimulatory actions or activ-

ities in terms of a way of compensating for hypo-responsivity to sensory stimuli.

Sensory soothing An interpretation of repetitive, self-stimulatory actions or

activities in terms of a way of compensating for hyper-responsivity to sensory
stimuli.

Serotonin/5-hydroxytryptamine/5-HT See Box 8.1.

Serotonin transporter substance/SERT/5-HTT A protein with a known genetic

origin thought to be involved in susceptibility to depression, and the target of
many antidepressant medications.

297
Glossary

Shared attention See joint attention.

Shutdown A self-explanatory term often used by high-functioning people with

ASD to describe the defence mechanism they use to avoid over-arousal by exces-
sive sensory-perceptual stimulation. See Box 3.3.
\

Simplex families Families in which an isolated, or sporadic, case of ASD occurs.

Single blind trial. See blind trials.

Single factor theory/hypothesis Theories/hypotheses that propose that all the

diagnostic behaviours associated with ASD derive from a single causal factor at
one or another level of explanation. Cf common pathway theories.

Single-nucleotide polymorphisms (SNPs) A difference within a single DNA

building block, called a nucleotide. SNPs (pronounced ‘SNiPs’) occur normally
throughout a person’s DNA, and are the most common type of genetic variation
among people. Most SNPs have no effect on health or development. However,
some may be associated with disease.

Single subject experimental design (SSED) See Box 12.1.

Social anxiety disorder A term introduced in DSM-5 to replace social phobia as

in DSM-IV. Refers to pathological shyness, characterised by extreme discomfort
anxiety or fear in social situations, sufficient to interfere with everyday living.

Social brain. The neural basis of social experience, knowledge and interaction.

Social communication disorder (SCD) A newly identified condition in DSM-5.

For an abbreviated summary of diagnostic criteria for SCD see Chapter 2.

Social orienting. The innate bias of neonates and very young babies to attend pref-
erentially to social stimuli, in particular to human faces and voices.

Social phobia See social anxiety disorder.

Socio-economic status (SES) Refers to the social standing or class of an individual

or group most commonly assessed in terms of education, income and occupation.

Specific language impairment (SLI) Significant delay or anomaly in the acqui-

sition of a first language system, that cannot be explained by learning disability,
sensory impairment, environmental deprivation, autism or other obvious cause.

Specificity (As used in the context of screening tests.) A measure of the efficacy
of a screening test based on the proportion of those tested who are correctly iden-
tified as having the disease or disorder being screened for relative to the propor-
tion who are incorrectly identified as having the disorder. Associated with a low
level offalse positives. High specificity is desirable.

298
 Glossary

Specificity criterion A yardstick for assessing the validity of any theoretical

explanation of a neurodevelopmental disorder or facet of a disorder, for exmple
autism. The criterion states that, if a theory proposes that a particular causal factor
is both necessary and sufficient for autism or a particular facet of autism to occur,
then that factor must occur only in individuals with autism (or the facet of autism
identified in the theory).

Specifiers One of the two kinds of descriptor introduced in the DSM-5 descrip-
tion of ASD. Refers to any additional condition or significant factor that is present.
Cf. Descriptors.

Sporadic A term used to differentiate between genetic disorders that are inher-
ited via chance abnormality or variation of genetic material in eggs or sperm, as
opposed to genetic disorders that are familial, i.e. that run in families.

Standardised (As in ‘standardised tests’.) A formal test (usually of some psy-

chological capacity, i.e. a ‘psychometric’ test) that has been carried out in rigorous
conditions and with large groups of individuals, and the results statistically ana-
lysed to yield norms for the population being studied. The test will also have been
shown to produce results that are reliable and valid.

Statistical power A technical term that refers to the probability, in statistical

terms, that a research study will detect evidence in support of a hypothesis when
that hypothesis is in fact correct. Various factors affect this probability, including
the number of participants (or other entities to be examined) included in a study,
and how common or marked are the phenomena predicted by the hypothesis (i.e.
how easy they are to detect). See Box 12.2.

Structural magnetic resonance imaging (sMRI) A method of assessing the neu-

roanatomy of the brain at gross structural, volumetric or cellular levels by utilising
magnetic resonance imaging. See Box 8.2.

Subcortical Parts of the brain that are not part of the cerebral cortex.
Evolutionarily older than much of the cerebral cortex and subserving vital but
‘lower-order’ processes.

Sufficient cause Any causal factor, or set of causal factors, that, if present, will
invariably cause a particular effect/disorder/condition to occur. Cf. necessary cause.

Sulcus/sulci Grooves, or furrows, on the cortical surfaces of the brain which, in

combination with gyri, significantly extend the cortical surface area.

Supported living A principled method of enabling people with disabilities to

live in their own homes, whether a bedsit flat or house, with or without others
according to their preference, by providing the ongoing support necessary to make
this possible.
299
Glossary

Susceptibility genes Genes that increase the likelihood of an individual develop-

ing a particular characteristic or condition.

Symbol/symbolic/symbolise A symbol is something that stands for, or rep-

resents, something else. The relationship between a symbol and what it stands
for can be arbitrary, for example most words and their referents. Alternatively,
symbol and referent can be meaningfully linked, for instance a crucifix and the
Christian religion; the storm in ‘King Lear’ and the state of Lear’s mind; a blue
cloth and a pretend ‘river’.

Symbolic pretend play/pretence Play in which either one thing is used to stand
for another (e.g. a box for ‘a house’; water for ‘tea’) or something is imagined to be
present though not actually present (e.g. throwing an imaginary ball; pretending
to be a lion). Cf. functional pretend play.

Sympathy See Box 3.2 and the asterisked footnote.

Synaesthesia A neurological condition in which inputs from the different senses

become confused, for example a sound triggering the experience of a particular
colour.

Synapse The junction between the end point of an axon from one neuron and
the dendrites of another neuron, across which information is transmitted in the
form of electrical impulses.

Synaptic pruning Loss of less-used connective fibres (axons and dendrites) and
their synapses following early proliferation of fibres. See (brain) sculpting.

Synaptogenesis The formation and development of synapses.

Syndrome A cluster of often seemingly unrelated symptoms or characteristics

that may be psychological, physical or health-related and are sometimes, but not
always, assumed to have a single ultimate cause.

Syndromic autism A term used to refer to ASD when it occurs in combina-

tion with a known medical syndrome usually congenital and genetic in origin, for
example Fragile-X syndrome, Turner syndrome.

Syntax See Box 4.2.

Systemise/systemising mechanism A tendency (and the hypothetical mecha-

nism underlying this tendency) identified in Baron-Cohen’s extreme male brain
theory, to look for lawful regularities in experience that can be used to predict or
calculate outcomes, occurrences, events, etc. Stronger in males than in females, as
a general rule. See also hypersystemising.

300
 Glossary

Temporal lobe(s) One of the lobes of the cerebrum, situated below the frontal
and parietal lobes within the lower sides of the skull (see Figure 8.1). Involved
in hearing, language comprehension, the integration of information from several
senses, and memory processing.

Teratogen Any environmental agent that causes damage to the embryo or fetus
in utero.

Testosterone See Box 8.1.

Theory of mind (ToM) The ability to represent in one’s own mind the mental
states of others and also onself and to act in accordance with such mental-state
knowledge. Often used synonymously with mindreading. In this book, the term is
used only in the phrases implicit ToM or explicit ToM.

Thimerosal A substance containing mercury that was for a time used as a

preservative in vaccines.

Tourette’s syndrome A neurological disorder characterised by uncontrolled tics,

body movements and vocalisations or other utterances (often obscenities).

Triadic relating/triadic social interaction An early developing form of social inter-

action in which two (or more) individuals attend to a third person, object, action
or event and are aware that the person with whom they are interacting is having a
similar perceptual/cognitive/emotional experience of their own. In developmental
psychology, closely similar in meaning to secondary intersubjectivity, though with
less emphasis on shared affect.

Trichotillomania Compulsive pulling out of one’s own hair.

Tuberous sclerosis A rare genetic disorder in which benign growths occur in

various organs of the body, including the brain. It is frequently associated with
seizures, learning disability, and autistic features of behaviour. See also Box 7.1.

Turner syndrome An inherited condition manifesting in females and caused

by the absence or abnormality of one of the X-chromosomes. Numerous and
variable characteristics include physical anomalies, absence or underdevelop-
ment of female reproductive organs, and secondary sexual characteristics and
functions, and in some cases mild learning disability and autistic tendencies. See
also Box 7.1.

Typicality/typical/typically developing Used in place of ‘normality’/‘nor-

mal’/‘normally developing’ to avoid the associated stigmatising terms ‘abnormal’
or ‘subnormal’, replacing them with the less-stigmatising terms ‘non-typical’,
‘atypical’ or ‘different’.

301
Glossary

Unitary disorder A disorder or condition resulting from a single cause or set

of closely related causes with generally homogeneous and predictable symptoms,
course, outcome and response to treatment.

Universality criterion A yardstick for assessing the validity of any theoretical

explanation of a disortler, or facet of a disorder, for example autism. The criterion
states that if a theory proposes a particular causal factor is a necessary cause of
autism, or of some facet of autism, then that causal factor must occur universally
in all individuals with autism (or with the facet of autism identified in the theory).

Valid/validity The property of being true, correct, in conformity with reality.

Thus, a valid theory is one that fits well with what is seen in practice or with the
findings from research. A valid test or assessment is one that measures what it
purports to measure. This can only be judged by comparing the outcomes of a
particular test or procedure with the outcomes of other reliable tests or procedures
used to measure the same thing.

Vasopressin See Box 8.1.

Vegetative functions Bodily processes directly concerned with maintenance of

life, for example eating and digestion, excretion, sleeping and waking, sexual and
other hormonal functions.

Verbal abilities/verbal intelligence Those aspects of intelligence measured using

tests that assess knowledge of language directly; or that require the use of language
in the form of verbal mediation (‘inner speech’) or response output; or that assess
the kinds of knowledge obtained via language-mediated learning. For examples of
tests of verbal intelligence, see Box 4.1.

Verbal apraxia/dyspraxia Complete loss (apraxia) or impairment (dyspraxia)

of the ability to voluntarily perform the movements required for speech, in the
absence of any significant muscular or neuromuscular abnormalities. May result
from a brain-based impairment of motor output planning and/or the ability to
initiate the required movements.

Verbal fluency test A test of the ability to generate as many words as possible
in reponse to a given cue, such as an initial letter or named category (flowers,
animals). See fluency.

Verbal intelligence See verbal abilities.

Verbal IQ/VQ See Box 4.1.

Vermis See cerebellar vermis.

302
 Glossary

Weak central coherence (WCC) An unusual degree of weakness in the normal

drive for central coherence, resulting in a tendency to process complex perceptual
stimuli as parts rather than as wholes, and a failure to integrate the component
parts of higher-order experience, such as narratives or events, into meaningful
wholes.

White matter Brain tissue consisting of concentrations of axons, each covered in

a whiteish-coloured myelin sheath made up of glial cells.

Williams syndrome A rare sporadic (i.e. not familial) genetic disorder character-
ised by ‘elfin’ facial features and other physical anomalies, and generally accom-
panied by learning disability but relatively spared social interaction and language.

Working memory See Box 9.3.

303
Veretative Figures Eile mayne: sae lesa wh fre
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ont nae Ahearn tated fern Chee.

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toate tlhe? damess k howicdoe Uf lee Po - rcp re hs ie od Liege
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 REFERENCES

Abdallah, M., Larsen, N., Grove, J. .... Mortensen, E. (2013). Neonatal chemokine levels
and risk of autism spectrum disorders. Cytokine, 61, 370-376.
Abrams, D., Lynch, C., Cheng, K. .... Menon, V. (2013). Underconnectivity between
voice-selective cortex and reward circuitry in children with autism. Proceedings of the
National Academy of Sciences, 110, 12060-12065.
Accardo, P. & Barrow, W. (2015). Toe walking in autism. Journal of Child Neurology, 30,
606-609.
Adams, M. (2013). Explaining the theory of mind deficit in autism spectrum disorder.
Philosophical Studies, 163, 233-249.
Adolphs, R. (2009). The social brain. Annual Review of Psychology, 60, 693-716.
Alcantara, J., Weisblatt, E., Moore, B., & Bolton, P. (2004). Speech-in-noise perception
in high-functioning individuals with autism or Asperger’s syndrome. Journal of Child
Psychology and Psychiatry, 45, 1107-1114.
Allely, C. (2013). Pain sensitivity and observer perception of pain in individuals with autis-
tic spectrum disorder. Scientific World Journal, 916178.
Allman, M. J. (2011). Deficits in temporal processing associated with autistic disorder.
Frontiers in Integrative Neuroscience, 5, 2.
Alvarez, A. (1996). Addressing the element of deficit in children with autism: Psychotherapy
which is both psychoanalytically and developmentally informed. Clinical Child
Psychology and Psychiatry, 1, 525-537.
Alvarez, A. & Reid, S. (1999). Autism and Personality: Findings from the Tavistock Autism
Workshop. London: Routledge.
American Psychiatric Association (1980). Diagnostic and Statistical Manual of Mental
Disorders (3rd edn) (DSM-III). Washington, DC: APA.
American Psychiatric Association (1987). Diagnostic and Statistical Manual of Mental
Disorders (3rd edn Revised) (DSM-III-R). Washington, DC: APA.
American Psychiatric Association (1994). Diagnostic and Statistical Manual of Mental
Disorders (4th edn) (DSM-IV). Washington, DC: APA.
American Psychiatric Association (2000). Diagnostic and Statistical Manual of Mental
Disorders (4th edn, Text Revised) (DSM-IV-TR). Washington, DC: APA.
American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental
Disorders (5th edn) (DSM-5). Washington, DC: APA.
Ames, C. & Fletcher-Watson, S. (2010). A review of methods in the study of attention.
Developmental Review, 30, 52-73.
Anagnostou, E., Zwaigenbaum, L., Szatmari, P. .... Buchanan, J. (2014). Autism spectrum
disorder: Advances in evidence-based practice. Canadian Medical Association Journal,
186, 509-519.
References

Anderson, D., Liang, J., & Lord, C. (2013). Predicting young adult outcome among more
or less cognitively able individuals with autism spectrum disorders. nies of Child
Psychology and Psychiatry, 55, 485-494.
Anderson, G. (2014). Biochemical biomarkers for autism spectrum ede In F. Volkmar,
S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook ofAutism and Pervasive Developmental
Disorders (Vol. 2, 4th edn) (pp. 457-481). Hoboken, NJ: Wiley & Sons.
Anderson, K., Shattuck, P., Cooper, B., Roux, A., & Wagner, M. (2014). Prevalence and
correlates of postsecondary residential status among young adults with autism spectrum
disorder. Autism, 18, 562-570.
Ariel, C. & Naseef, R. (2005). Voices from the Spectrum: Parents, Grandparents, Siblings, People
with Autism and Professionals Share their Wisdom. London: Jessica Kingsley.
Arndt, T., Stodgell, C., & Rodier, P. (2005). The teratology of autism. International Journal
of Developmental Neuroscience, 23, 189-199.
Ashwood, P. & Van de Water, J. (2004). Is autism an autoimmune disease? Autoimmunity
Reviews, 3, 557-562.
Asperger, H. (1944/1991). ‘Autistic psychopathy’ in childhood. Translated in U. Frith (Ed.),
Autism and Asperger Syndrome (pp. 37-92). Cambridge: Cambridge University Press.
Assaf, M., Jagannathan, K., Calhoun, V. .... Pearlson, G. (2010). Abnormal functional
connectivity of default mode sub-networks in autism spectrum disorder patients.
Neurolmage, 53, 247-256.
Aston, M. (2001). The Other Half ofAsperger Syndrome. London: National Autistic Society.
Attwood, T. (1998). Asperger’s Syndrome:A Guide for Parents and Professionals. London and
Philadelphia, PA: Jessica Kingsley Publishers.
Auyeung, B., Baron-Cohen, S., Wheelwright, S., & Allison, C. (2008). The Autism Spectrum
Quotient: Children’s version (A Q-Child). Journal ofAutism and Developmental Disorders,
38, 1230-1240.
Bachevalier, J. (1994). Medial temporal lobe structures and autism. Neuropsychologia, 32,
627-648.
Bachevalier, J. (2008). Temporal lobe structures and memory in non-human primates:
Implications for autism. In J. Boucher & D. M. Bowler (Eds.), Memory in Autism.
Cambridge: Cambridge University Press.
Baddeley, A. (1986). Working Memory. Oxford: Oxford University Press.
Baddeley, A. (2000). The episodic buffer: A new component of working memory? Trends in
Cognitive Science, 4, 417-423.
Bailey, A., Le Couteur, A., Gottesman, I. .... Rutter, M. (1995). Autism as a strongly genetic
disorder: Evidence from a British twin study. Psychological Medicine, 25, 63-77.
Baird, G., Charman, T., Baron-Cohen, S. .... Drew, A. (2000). A screening instrument for
detecting autism at 18 months of age: A six-year follow-up study. Journal of the American
Academy of Child and Adolescent Psychiatry, 39, 694-702.
Baird, G., Simonoff E., Pickles, A. .... Charman, T. (2006). Prevalence of disorders of the
autism spectrum in a population cohort of children in South Thames: The Special Needs
and Autism Project (SNAP). The Lancet, 368, 210-215.
Baranek, G., Little, L., Parham, D., Ausderau, K., & Sabatos-De Vito, M. (2014). Sensory
features in autism spectrum disorders. In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey
(Eds.), Handbook of Autism and Pervasive Developmental Disorders (Vol. 2, 4th edn) (pp.
378-407). Hoboken, NJ: Wiley & Sons.
Barbaro, J., & Dissanayake, C. (2013). Early markers of autism spectrum disorders in infants
and toddlers prospectively identified in the Social Attention and Communication Study.
Autism, 17, 64-86.
Barbeau, E., Souliéres, I., Dawson, E. .... Mottron, L. (2013). The level and nature of autis-
tic intelligence III. Journal of Abnormal Psychology, 122, 295-301.

306
 References

Barnard-Brak, L., Sulak, T., & Hatz, J. (2011). Macrocephaly in children with autism
spectrum disorders. Pediatric Neurology, 44, 97-100.
Barnevik-Olsson, M., Gillberg, C., & Fernell, E. (2010). Prevalence of autism in children
i Somali origin living in Stockholm. Developmental Medicine and Child Neurology, 52,
167-1168.
Barnhill, A. Clinard (2007). At Home in the Land of Oz: My Sister, Autism and Me. London:
Jessica Kingsley.
Baron-Cohen, B., Johnson, D., Asher, J. .... Allison, C. (2013). Is synaesthesia more common
in autism? Molecular Autism, 4, 1-6.
Baron-Cohen, S. (1989). The autistic child’s theory of mind: A case of specific developmen-
tal delay. Journal of Child Psychology and Psychiatry, 30, 285-298.
Baron-Cohen, S. (1991). Do people with autism understand what causes emotion? Child
Development, 62, 385-395.
Baron-Cohen, S. (1995). Mindblindness:An Essay on Autism and Theory ofMind. Cambridge,
MA: The MIT Press.
Baron-Cohen, S. (2005). The Empathizing System: A revision of the 1994 model of the
Mindreading System. In B. Ellis & D. Bjorklund (Eds.), Origins of the Social Mind (pp.
468-492). New York: Guilford Press.
Baron-Cohen, S. (2009). Autism: The empathizing-systemizing (E-S) theory. Annals of the
New York Academy of Sciences, 1156, 68-80.
Baron-Cohen, S., Baldwin, D., & Crowson, M. (1997). Do children with autism use the
speaker’s direction of gaze strategy to crack the code of language? Child Development,
68, 48-57.
Baron-Cohen, S. & Hammer, J. (1997). Is autism an extreme form of the male brain?
Advances in Infancy Research, 11, 193-218.
Baron-Cohen, S., Hoekstra, R., Knickmeyer, R., & Wheelwright, S. (2006). The Autism-
Spectrum Quotient (AQ) — Adolescent version. Journal of Autism and Developmental
Disorders, 36, 343-350.
Baron-Cohen, S., Jolliffe, T., Mortimore, C., & Robertson, M. (1997). Another advanced test
of theory of mind: Evidence from very high functioning adults with autism or Asperger
syndrome. Journal of Child Psychology and Psychiatry, 38, 813-822.
Baron-Cohen, S., Knickmeyer, R., & Belmonte, M. (2005). Sex differences in the brain:
Implications for explaining autism. Science, 310 (5749), 819-823.
Baron-Cohen, S., Leslie, A., & Frith, U. (1985). Does the autistic child have a ‘theory of
mind’? Cognition, 21, 37-47.
Baron-Cohen, S., Richler, J., Bisarya, D., Gurunathan, N., & Wheelwright, S. (2003).
The systemizing quotient: An investigation of adults with Asperger syndrome or
high-functioning autism, and normal sex differences. Philosophical Transactions of the
Royal Society of London B: Biological Sciences, 358, 361-374.
Baron-Cohen, S., Wheelwright, S., Skinner, R., Martin, J., & Clubley, E. (2001). The Autism
Spectrum Quotient (AQ): Evidence from Asperger syndrome/high functioning autism,
males and females, scientists and mathematicians. Journal of Autism and Developmental
Disorders, 31, 5-18.
Barrow, W., Jaworski, M., & Accardo, P. (2011). Persistent toe walking in autism. Journal of
Child Neurology, 26, 619-621.
Bartak, L., Rutter, M., & Cox, A. (1975). A comparative study of infantile autism and spe-
cific developmental receptive language disorder. The British Journal of Psychiatry, 126,
127-145.
Bartak, L., Rutter, M., & Cox, A. (1977). A comparative study of infantile autism and spe-
cific developmental receptive language disorders III: Discriminant function analysis.
Journal of Autism and Childhood Schizophrenia, 7, 383-396.

307
References

Bates, E. (1990). Language about me and you: Pronominal assessment and the emerging
concept of self. In D. Cicchetti & M. Beeghly (Eds.), The Self in Transition: Infancy to
Childhood (pp. 165-182). Chicago, IL: University of Chicago Press.
Bauminger, N. & Shulman, C. (2003). The development and maintenance of friendship in
high-functioning children with autism: Maternal perceptions. Autism, 7, 81-97.
Bee, H. & Boyd, D. (2012). The Developing Child (13th edn). Harlow: Pearson.
Beers, A., McBoyle, M., Kakande, E., Dar Santos, R., & Kozak, F. (2014). Autism and periph-
eral hearing loss: A systematic review. International Journal of Pediatric Otolaryngology,
78, 96-101.
Begeer, S., Terwogt, M., Lunenburg, P., & Stegge, H. (2009). Additive and subtractive
counterfactual reasoning of children with high-functioning autism spectrum disorders.
Journal of Autism and Developmental Disorders, 39, 1593-1597.
Belmonte, M., Allen, G., Beckel-Mitchener, A. .... Webb, S. (2004). Autism and abnormal
development of brain connectivity. The Journal of Neuroscience, 24, 9228-9231.
Belmonte, M. & Carper, R. (2006). Monozygotic twins with Asperger syndrome: Differences
in behaviour reflect variations in brain structure and function. Brain and Cognition, 61,
110-121.
Belmonte, M., Cook, E., Anderson, G. .... Tierney, E. (2004). Autism as a disorder of neu-
ral information processing: Directions for research and targets for therapy. Molecular
Psychiatry, 9, 646-663.
Ben Shalom, D. (2000). Autism: Emotions without feelings. Autism, 4, 205-207.
Ben Shalom, D., Mostofsky, M., Hazlett, R. .... Hoehn-Saric, R. (2006). Normal physiolog-
ical emotions but differences in expressions of conscious feelings in high-functioning
autism. Journal ofAutism and Developmental Disorders, 36, 395-400.
Bender, L. (1956). Schizophrenia in childhood: Its recognition, description and treatment.
American Journal of Orthopsychiatry, 26, 499-506.
Bennett, H., Wood, C., & Hare, D. (2005). Providing care for adults with autistic spec-
trum disorders in learning disability services: Needs-based or diagnosis-driven? Journal
of Applied Research in Intellectual Disabilities, 18, 51-64.
Bent, C. A., Dissanayake, C., & Barbaro, J. (2015). Mapping the diagnosis of autism spec-
trum disorders in children aged under 7 years in Australia, 2010-2012. The Medical
Journal of Australia, 202, 317-320.
Berk, L. & Meyers, A. (2015). Infants and Children (8th edn). Harlow: Pearson.
Bernier, R., Gerdts, J., Munson, J., Dawson, G., & Estes, A. (2012). Evidence for broader
autism phenotype characteristics in parents from multi-incidence autism families.
Autism Research, 5, 13-20.
Bertone, A., Mottron, L., Jelenic, P., & Faubert, J. (2005). Enhanced and diminished
visuo-spatial information processing in autism depends on stimulus complexity. Brain,
128, 2430-2441.
Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders. Brain Research,
1380, 42-77.
Bettelheim, B. (1967). The Empty Fortress: Infantile Autism and the Birth of Self, New York:
The Free Press.
Bigham, S., Boucher, J., Mayes, A., & Anns, S. (2010). Assessing recollection and familiarity in
autistic spectrum disorders: Methods and findings. Journal of Autism and Developmental
Disorders, 40, 878-889.
Bilder, D., Botts, E., Smith, K. .... Coon, H. (2013). Excess mortality and causes of death in
autism spectrum disorders. Journal of Autism and Developmental Disorders, 43, 1196-1204.
Binnie, J. & Blainey, S. (2013). The use of cognitive behavioural therapy for adults with
autism spectrum disorders: A review of the evidence. Mental Health Review Journal, 18,
93-104.

308
 References

Bishop, D. (2010). Overlaps between autism and language impairment: Phenomimicry or

shared etiology? Behavior Genetics, 40, 618-629.
Bishop, D. & Norbury, C. (2002). Exploring the borderlands of autistic disorder and spe-
cific language impairment: A study using standardised diagnostic instruments. Journal of
Child Psychology and Psychiatry, 43, 917-929.
Bishop-Fitzpatrick, L., Minshew, N., & Eack, S. (2014). A systematic review of psychosocial
interventions for adults with autism spectrum disorders. In F. Volkmar, B. Reichow &
J. McPartland (Eds.), Adolescents and Adults with Autism Spectrum Disorders (pp. 315—
327). New York: Springer.
Bitsika, V., Sharpley, C., & Bell, R. (2013). The buffering effect of resilience upon stress,
anxiety and depression in parents of a child with an autism spectrum disorder. Journal of
Developmental and Physical Disabilities, 25, 533-543.
Blair, R. (1999). Psychophysiological responsiveness to the distress of others in children
with autism. Personality and Individual Differences, 26, 477-485.
Blatt, G. (2012). Inhibitory and excitatory systems in autism spectrum disorders. In
J. Buxbaum & P. Hof (Eds.), The Neuroscience of Autism Spectrum Disorders
(pp. 335-347). Amsterdam: Elsevier.
Bloom, P. (2000). How Children Learn the Meanings of Words. Cambridge, MA: The MIT
Press.
Bodison, S. & Mostofsky, S. (2014). Motor control and motor learning processes in autism
spectrum disorders. In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook of
Autism and Pervasive Developmental Disorders (Vol. 2, 4th edn) (pp. 354-377). Hoboken,
NJ: Wiley & Sons.
Bokkon, I., Salari, V., Scholkmann, F., Dai, J., & Grass, F. (2013). Interdisciplinary implica-
tions on autism, savantism, Asperger syndrome and the biophysical picture representa-
tion: Thinking in pictures. Cognitive Systems Research, 22, 67-77.
Bolte, S. (2014). Is autism curable? Developmental Medicine and Child Neurology, 56,
927-931.
Bolton, S., McDonald, D., Curtis, E., Kelly, S., & Gallagher, L. (2014). Autism in a recently
arrived immigrant population. European Journal of Pediatrics, 173, 337-343.
Bondy, A. & Frost, L. (2001). The picture exchange communication system. Behavior
Modification, 25, 725-744.
Bonnel, A., McAdams, S., Smith, B. .... Mottron, L. (2010). Enhanced pure-tone pitch dis-
crimination among persons with autism but not Asperger syndrome. Neuropsychologia,
48, 2465-2475.
Botting, N. & Conti-Ramsden, G. (2003). Autism, primary pragmatic difficulties, and spe-
cific language impairment: Can we distinguish them using psycholinguistic markers?
Developmental Medicine and Child Neurology, 45, 515-524.
Boucher, J. (1976). Articulation in early childhood autism. Journal of Autism and Childhood
Schizophrenia, 6, 297-302.
Boucher, J. (1988). Word fluency in high functioning autistic children. Journal of Autism
and Developmental Disorders, 18, 637-645.
Boucher, J. (1996). The inner life of children with autistic difficulties. In V. Varma (Ed.). The
Inner Life of Children with Special Needs (pp. 81-94). London: Whurr.
Boucher, J. (2001). Lost in a sea of time: Time-parsing and autism. In C. Hoerl &
T. McCormack (Eds.), Time and Memory (pp. 111-135). Oxford: Clarendon Press.
Boucher, J. (2011). Redefining the concept of autism as a unitary disorder: Multiple causal
deficits of asingle kind? In D. Fein (Ed.), The Neuropsychology of Autism (pp. 469-482).
Oxford: Oxford University Press.
Boucher, J. (2012). Structural language in autistic spectrum disorder. Journal of Child
Psychology and Psychiatry, 53, 219-233.

309
References

Boucher, J., Cowell, P., Howard, M. .... Mayes, A. (2005). A combined clinical neu-
ropsychological and neuroanatomical study of adults with srccaban Pin autism.
Cognitive Neuropsychiatry, 10, 165-214.
Boucher, J., Lewis, V., & Collis, G. M. (1998). Familiar face and voice matching and recog-
nition in children with autism. Journal of Child Psychology and Psychiatry, 39, 171-181.
Boucher, J., Lewis, V., & Collis, G. M. (2000). Voice processing abilities in children with
autism, children with specific language impairments, and young typically developing
children. Journal of Child Psychology and Psychiatry, 41, 847-857.
Boucher, J., Mayes, A., & Bigham, S. (2008). Memory, language, and intellectual ability
in low functioning autism. In J. Boucher & D. M. Bowler (Eds.), Memory in Autism
(pp. 268-290). Cambridge: Cambridge University Press.
Boucher, J., Mayes, A., & Bigham, S. (2012). Memory in autistic spectrum disorder.
Psychological Bulletin, 138, 458.
Bouvet, L., Mottron, L., Valdois, S., & Donnadieu, S. (2014). Auditory stream segregation
in autism spectrum disorder. Journal of Autism and Developmental Disorders, Feb1-9.
Bowler, D., Gaigg, S., & Gardiner, J. (2008). Subjective organisation in the free recall of
adults with Asperger’s syndrome. Journal of Autism and Developmental Disorders, 38,
104-113.
Bowler, D., Gaigg, S., & Gardiner, J. (2014). Binding of multiple features in memory
by high-functioning adults with autism spectrum disorder. Journal of Autism and
Developmental Disorders, 44, 2355-2362.
Bowler, D., Gaigg, S., & Lind, S. (2011). Memory in autism: Binding, self, and brain. In
I. Roth & P. Rezaie (Eds.), Researching the Autistic Spectrum: Contemporary Perspectives
(pp. 316-347). Cambridge: Cambridge University Press.
Boyd, B., Baranek, G., Sideris, J. .... Miller, H. (2010). Sensory features and repetitive behav-
iour in children with autism and developmental delays. Autism Research, 3, 78-87.
Boyd, B., Hume, K., McBee, M. .... Odom, S. L. (2014). Comparative efficacy of LEAP,
TEACCH and non-model-specific special education programs for preschoolers
with autism spectrum disorders. Journal of Autism and Developmental Disorders, 44,
366-380.
Braiden, H., Bothwell, J., & Duffy, J. (2010). Parents’ experience of the diagnostic process
for autistic spectrum disorders. Child Care in Practice, 16, 377-389.
Brent, J. (2013). Commentary on the abuse of metal chelation therapy in patients with
autism spectrum disorders. Journal of Medical Toxicology, 9, 370-372.
Brock, J., Brown, C., Boucher, J. & Rippon, G. (2002). The temporal binding deficit hypoth-
esis of autism. Development and Psychopathology, 14, 209-224.
Bromley, J., Hare, D., Davison, K., & Emerson, E. (2004). Mothers supporting children with
autistic spectrum disorders: Social support, mental health status and satisfaction with
services. Autism, 8, 409-423.
Brown, J., Aczel, B., Jiménez, L., Kaufman,S., & Grant, K. (2010). Intact implicit learning
in autism spectrum pinditicnss The Quarterly Journal of Experimental Psychology, 63,
1789-1812.
Buckner, R., Andrews-Hanna, J., & Schacter, D. (2008). The brain’s default network. Annals
of the New York Academy of Sciences, 1124, 1-38.
Buie, T., Campbell, D., Fuchs, G. .... Winter, H. (2010). Evaluation, diagnosis and treatment
of gastrointestinal disorders in individuals with ASDs. Pediatrics, 125, $1-18.
Buxbaum, J. & Hof, P. (2012). The Neuroscience of Autism Spectrum Disorders. Amsterdam:
Academic Press/Elsevier.
Byford, S., Cary, M., Barrett, B. .... Pickles, A. (2015). Cost-effectiveness analysis
of a communication-focused therapy for pre-school children with autism. BMC
Psychiatry, 15, 1.

310
 References

Cadogan, S. & McCrimmon, A. (2015). Pivotal response treatment for children with
autism spectrum disorder: A systematic review of research quality. Developmental
Neurorehabilitation, 18, 137-144.
Camarata, S. (2014). Early identification and early intervention in autism spectrum dis-
a Accurate and effective? International Journal of Speech-Language Pathology, 16,

Capps, L., Yirmiya, N., & Sigman, M. (1992). Understanding of simple and complex emo-
tions in non-retarded children with autism. Journal of Child Psychology and Psychiatry,
33, 1169-1182.
Carlson, N. (2012). Physiology of Behaviour (11th edn). Harlow: Pearson.
Carr, E. & Durand, V. (1985). Reducing behavior problems through functional communica-
tion training. Journal ofApplied Behavior Analysis, 18(2), 111-126.
Carrington, S., Kent, R., Maljaars, J. .... Leekam, S. (2014). DSM-5 Autism Spectrum
Disorder: In search of essential behaviours for diagnosis. Research in Autism Spectrum
Disorders, 8, 701-715.
Carrington, S., Leekam, S., Kent, R. .... Noens, I. (2015). Signposting for diagnosis of
autism spectrum disorder using the Diagnostic Interview for Social and Communication
Disorders (DISCO). Research in Autism Spectrum Disorders, 9, 45-52.
Carruthers, P. (2009). How we know our own minds: The relationship between mindread-
ing and metacognition. Behavioral and Brain Sciences, 32, 121-138.
Carruthers, P. (2013). Mindreading in infancy. Mind and Language, 28, 141-172.
Carson, K., Gast, D., & Ayres, K. (2008). Effects of a photo activity schedule book on inde-
pendent task changes by students with intellectual disabilities in community and school
job sites. European Journal of Special Needs Education, 23, 269-279.
Carter, A., Messinger, D., Stone, W. .... Yoder, P. (2011). A randomized controlled trial of
Hanen’s ‘More Than Words’ in toddlers with early autism symptoms. Journal of Child
Psychology and Psychiatry, 52, 741-752.
Carter, A., Volkmar, E, Sparrow, S. .... Schopler, E. (1998). The Vineland Adaptive
Behaviour Scales: Supplementary norms for individuals with autism. Journal of Autism
and Developmental Disorders, 28, 287-302.
Casanova, M. (2012). The minicolumnopathy of autism. In J. Buxbaum & P. Hof (Eds.), The
Neuroscience of Autism Spectrum Disorders (pp. 327-333). Amsterdam: Elsevier.
Cesaroni, L. & Garber, M. (1991). Exploring the experience of individuals through first-
hand accounts from high-functioning individuals with autism. Journal of Autism and
Developmental Disorders, 21, 303-314.
Chaffin, M., Hanson, R., Saunders, B. .... LeTourneau, E. (2006). Report of the APSAC task
force on attachment therapy, reactive attachment disorder, and attachment problems.
Child Maltreatment, 11, 76-89.
Chan, G. & Goh, E. (2014). ‘My parents told us that they will always treat my brother
differently because he is autistic’: Are siblings of autistic children the forgotten ones?
Journal of Social Work Practice, 28, 155-171.
Charman, T., Pickles, A., Simonoff, E. .... Baird, G. (2010). IQ in children with autism spec-
trum disorders. Psychological Medicine, 41, 619-627.
Chaste, P. & Leboyer, M. (2012). Autism risk factors: Genes, environment, and
gene-environment interactions. Dialogues in Clinical Neuroscience, 14, 281-92.
Chawarska, K., Campbell, D., Chen, L., .... Chang, J. (2011). Early generalized overgrowth
in boys with autism. Archives of General Psychiatry, 68, 1021-1031.
Cheuk, D., Wong, V., & Chen, W. (2011). Acupuncture for people with autism spectrum
disorders. Cochrane Database Systemic Review, 7.
Chevallier, C., Kohls, G., Troiani, V., Brodkin, E., & Schultz, R. (2012). The social motivation
theory of autism. Trends in Cognitive Sciences, 16, 231-239.

311
References

Chomiak, T. & Hu, B. (2013). Alterations of neocortical development and maturation in

autism: Insights from Valproic acid exposure and animal models. pier rmaitins and
Teratology, 36, 57-66.
Christensen, J.,Grenborg, T., Sorensen, M. .... Vestergaard, M. (2013). PreiaGil valproate
exposure ani risk of autism spectrum disorders. JAMA, 309, 1696-1703.
Christon, L. & Myers, B. (2015). Family-centered care practices in a multidisciplinary sam-
ple of pediatric professionals providing autism spectrum disorder services in the United
States. Research in Autism Spectrum Disorders, 20, 47-57.
Churchill, D. W. (1972). The relation of infantile autism and early childhood schizophre-
nia to developmental language disorders of childhood. Journal of Autism and Childhood
Schizophrenia, 2, 182-197.
Cleland, J., Gibbon, F, Peppé, S., O’Hare, A., & Rutherford, M. (2010). Phonetic and
phonological errors in children with high-functioning autism and Asperger syndrome.
International Journal of Speech and Language Pathology, 12, 69-76.
Cline, T. & Baldwin, S. (2004). Selective Mutism in Children. London: Whurr.,
Coben, R., Mohammad-Rezazadeh, I., & Cannon, R. (2014). Using quantitative and ana-
lytic EEG methods in the understanding of connectivity in autism spectrum disorders: A
theory of mixed over- and under-connectivity. Frontiers in Human Neuroscience, 8.
Collacott, R., Cooper, S., Branford, D., & McGrother, C. (1998). Epidemiology of self-
injurious behaviour in adults with learning disabilities. British Journal of Psychiatry,
173, 428-432.
Colombi, C., Vivanti, G., & Rogers, S. (2012). Imitation in ASD. In D. Fein (Ed.), The
Neuropsychology of Autism (pp. 243-266). Oxford: Oxford University Press.
Coman, D., Alessandri, M., Gutierrez, A. .... Odom, S. (2013). Commitment to classroom
model philosophy and burnout symptoms among high fidelity teachers implementing
preschool programs for children with autism spectrum disorders. Journal of Autism and
Developmental Disorders, 43, 345-360.
Constantino, J., Davis, S., Todd, R. .... Reich, W. (2003). Validation of a brief quantita-
tive measure of autistic traits: Comparison of the Social Responsiveness Scale with the
ADER. Journal of Autism and Developmental Disorders, 33, 427-433.
Constantino, J., Zhang, Y., Frazier, T., Abbacchi, A., & Law, P. (2010). Sibling recurrence and
the genetic epidemiology of autism. American Journal of Psychiatry, 167, 1349-1356.
Costa, L., Cole, T., Coburn, J. .... Roque, P. (2014). The effect of air pollution on the brain.
BioMedical Research, Article ID 736385.
Courchesne, E. (2004). Brain development in autism: Early overgrowth followed by pre-
mature arrest of growth. Mental Retardation and Developmental Disabilities Research
Reviews, 10, 106-111.
Courchesne, E., Campbell, K., & Solso, S. (2011). Brain growth across the life span in
autism. Brain Research, 1380, 138-145.
Courchesne, E. & Pierce, K. (2005). Why the frontal cortex in autism might be talking only
to itself: Local over-connectivity but long-distance disconnection. Current Opinion in
Neurobiology, 15, 225-230.
Cowell, P., Sluming, V., Wilkinson, I. .... Roberts, N. (2007). Effects of sex and age on
regional prefrontal brain volume in two human coherts. European Journal of Neuroscience,
25, 307-318.
Crane, L., Chester, J., Goddard, L., Henry, L., & Hill,E.(2015). Experiences of autism diagno-
sis: A survey of over 1000 parents in the U fitted Kingdom. Autism, 1362361315573636.
Crane, L., & Goddard, L. (2008). Episodic and semantic autobiographical memory in
adults with autism spectrum disorders. Journal of Autism and Developmental Disorders,
38, 498-506.
Crane, L., Goddard, L., & Pring, L. (2009). Specific and general autobiographical knowl-
edge in autism spectrum disorders. Memory, 17, 557-576.

312
 References

Creak, M. (1961). Schizophrenic syndrome in childhood: Progress report of a working

party. Cerebral Palsy Bulletin, 3, 501-504.
Croen, L., Najjar, D., Ray, G., Lotspeich, L., & Bernal, P. (2006). A comparison of health-
care utilization and costs in children with and without autism spectrum disorders in a
large-group model health plan. Pediatrics, 118, 1203-1211.
Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). Identification of risk
loci with shared effects on five major psychiatric disorders. The Lancet, 381, 1371-1379.
Cummings, L. (2013). Clinical pragmatics and theory of mind. In F. Piparo & M. Carapezza
(Eds.), Perspectives on Linguistic Pragmatics (pp. 23-56). New York: Springer.
Curcio, F. (1978). Sensorimotor functioning and communication in mute autistic children.
Journal of Autism and Childhood Schizophrenia, 2, 264-287.
Dadds, M., MacDonald, E., Cauchi, A., Williams, K., Levy, F., & Brennan, J. (2014). Nasal
oxytocin for social deficits in childhood autism: A randomized controlled trial. Journal
of Autism and Developmental Disorders, 44,521-531.
Dakin, S. & Frith, U. (2005). Vagaries of visual perception in autism. Neuron, 48, 497-507.
Dale, E., Jahoda, A., & Knott, F. (2006). Mothers’ attributions following their child’s diag-
nosis of autistic spectrum disorder: Exploring links with maternal levels of stress, depres-
sion and expectations about their child’s future. Autism, 10, 463-479.
Damasio, A. & Maurer, R. (1978). A neurological model for childhood autism. Archives of
Neurology, 35, 777-786.
Danial, J. & Wood, J. (2013). Cognitive behavioral therapy for children with autism:
Review and considerations for future research. Journal of Developmental and Behavioral
Pediatrics, 34, 702-715.
D’Astous, V., Manthorpe, J., Lowton, K., & Glaser, K. (2014). Retracing the historical social
care context of autism. British Journal of Social Work, 46, 789-807.
Davis, G. & Plaisted-Grant, K. (2015). Low endogenous neural noise in autism. Autism, 19,
351-362.
Davis, T., O’Reilly, M., Kang, S. .... Mulloy, A. (2013). Chelation treatment for autism spec-
trum disorders: A systematic review. Research in Autism Spectrum Disorders, 7, 49-55.
Dawson, G., Jones, E. J., Merkle, K. .... Smith, M. (2012). Early behavioral intervention is
associated with normalized brain activity in young children with autism. Journal of the
American Academy of Child and Adolescent Psychiatry, 51, 1150-1159.
Dawson, G. & McKissick, F. (1984). Self-recognition in autistic children. Journal of Autism
and Developmental Disorders, 14, 383-394.
Dawson, G., Rogers, S., Munson, J. .... Varley, J. (2010). Randomized, controlled trial of an
intervention for toddlers with autism: The Early Start Denver Model. Pediatrics, 125,
el7-e23.
Dawson, G., Toth, K., Abbott, R. .... McPartland, J. (2004). Early social attention impair-
ments in autism: Social orienting, joint attention, and attention to distress. Developmental
Psychology, 40, 271-283.
Dawson, G., Webb, S., Schellenberg, G. .... Friedman, S. (2002). Defining the broader
phenotype of autism: Genetic, brain, and behavioural perspectives. Development and
Psychopathology, 14, 581-611.
Dawson, M., Mottron, L., & Gernsbacher, M. (2008). Learning in autism. In J. Byrne &
H. Roediger (Eds.), Learning and Memory: A Comprehensive Reference, Vol. III: Cognitive
Psychology (pp. 759-772). Oxford: Elsevier.
Dawson, M., Souliéres, I., Gernsbacher, M., & Mottron, L. (2007). The level and nature of
autistic intelligence. Psychological Science, 18, 657-662.
de Bildt, A., Sytema, S., Zander, E. .... Green, J. (2015). Autism Diagnostic Interview-
Revised (ADI-R) algorithms for toddlers and young preschoolers: Application in a
non-US sample of 1,104 children. Journal of Autism and Developmental Disorders, 45,
2076-2091.

313
References

De Rubeis S., & Buxbaum J. (2015). Genetics and genomics of autism spectrum disorder.
Human Molecular Genetics. July:ddv273.
DeLong, G., Bean, C., & Brown, F. (1981). Acquired reversible autistic syndrome in acute
encephalitic illness in children. Archives of Neurology, 38, 191-194.
DeMyer, M., Barton, S., Alpern, G. .... Steele, R. (1974). The measured learning abilities of
autistic children. Journal ofAutism and Childhood Schizophrenia, 4, 42-60.
Department of Education and Science (Ireland) (2006). An Evaluation of Educational
Provision for Children with Autistic Spectrum Disorders. www.education.ie/servlet/ blob-
servlet/des_autismreport_foreword.htm
DeSoto, M. & Hitlan, R. (2012). Synthetic folic acid supplementation during pregnancy may
increase the risk of developing autism. Journal of Pediatric Biochemistry, 2, 251-261.
Deutsch, S., Schwartz, B., Urbano, M. .... Herndon, A. (2014). Nicotinic acetylcho-
line receptors in autism spectrum disorders. In V. Patel, V. Preedy & C. Martin (Eds.),
Comprehensive Guide to Autism (pp. 755-777).New York: Springer.
Di Martino, A., Ross, K., Uddin, L. .... Milham, M. (2009). Functional brain correlates of
social and non-social processes in autism spectrum disorders. Biological Psychiatry, 65,
63-74.
Di Martino, A., Yan, C.-G., Li, Q. .... Milham, M. (2014). The autism brain imaging data
exchange. Molecular Autism, 19, 659-667.
Doja, A. & Roberts, W. (2006). Immunizations and autism. Canadian Journal of Neurological
Sciences, 33, 341-346.
Donnellan, A., Hill, D., & Leary, M. (2015). Rethinking autism: Implications of sensory
and movement differences for understanding and support. In E. Torres & A. Donnellan
(Eds.), Autism: The Movement Perspective. Lausanne: Frontiers Media SA.
Dumont-Mathieu, T. & Fein, D. (2005). Screening for autism in young children: The
Modified Checklist for Autism in Toddlers (M-CHAT) and other measures. Mental
Retardation and Developmental Disabilities Research Reviews, 11, 253-262.
Durkin, M., Maenner, M., Meaney, F. .... Schieve, L. (2010). Socioeconomic inequality in
the prevalence of autism spectrum disorder. PLoS One, 5, e11551.
Dworzynski, K., Ronald, A., Bolton, P., & Happé, F. (2012). How different are boys and girls
above and below the threshold for autism spectrum disorders? Journal of the American
Academy of Child and Adolescent Psychiatry, 51, 788-797.
Dziuk, A., Larson, J., Apostu, A. .... Mostofsky, S. (2007). Dyspraxia in autism: Association
with motor, social, and communicative deficits. Developmental Medicine and Child
Neurology, 49, 734-739.
Easson, A. & Woodbury-Smith, M. (2014). The role of prenatal immune activation in the
pathogenesis of autism and schizophrenia. Research in Autism Spectrum Disorders, 8,
312-316.
Ecker, C., Ginestet, C., Feng, Y..... Murphy, D. (2013). Brain surface anatomy in adults with
autism. JAMA Psychiatry, 70, 59-70.
Eigsti, I., Bennetto, L., & Dadlani, M. (2007). Beyond pragmatics: Morphosyntactic devel-
opment in autism. Journal of Autism and Developmental Disorders, 37, 1573-3432.
Eigsti, I., de Marchena, A., Schuh, J., & Kelley, E. (2011). Language acquisition in autism
spectrum disorders: A developmental review. Research in Autism Spectrum Disorders, 5,
681-691.
Figsti, I. & Fein, D. (2013). More is less: Pitch discrimination and language delays in chil-
dren with optimal outcomes from autism. Autism Research, 6, 605-613.
El-Ghoroury, N. & Krackow, E. (2011). A developmental—behavioral approach to outpatient
psychotherapy with children with autism spectrum disorders. Journal of Contemporary
Psychotherapy, 41, 11-17.
Elia, M., Ferri, R., Musumeci, A. .... Gruber, J.-C. (2000). Sleep in subjects with autistic
disorder. Brain Development, 22, 88-92.

314
 References

Elman, J., Bates, E., Johnson, M. .... Plunkett, K. (1996). Rethinking Innateness:
A Connectionist Perspective on Development. Cambridge, MA: The MIT Press.
Elsabbagh, M., Divan, G., Koh, Y.-J. .... Fombonne, E. (2012). Global prevalence of autism
and other pervasive developmental disorders. Autism Research, 5, 160-179.
Erickson, C., Stigler, K., Corkins, M., Posey, D., Fitzgerald, J., & McDougle, C. (2005).
Gastrointestinal factors in autistic disorder: A critical review. Journal of Autism and
Developmental Disorders, 35, 713-727.
Estes, A., Munson, J., Dawson, G. .... Abbott, R. (2009). Parenting stress and psychological
functioning among mothers of preschool children with autism and developmental delay.
13, 375-387
Autism,
Faherty, C. (2008). Understanding Death and Illness. Arlington, TX: Future Horizons.
Falter, C., Plaisted, K., & Davis, G. (2008). Visuo-spatial processing in autism — testing
the predictions of the extreme male brain theory. Journal of Autism and Developmental
Disorders, 38, 507-515.
Faran, Y. & Ben Shalom, D. (2008). Possible parallels between memory and emotion
processing in autism: A neuropsychological perspective. In J. Boucher & D. M. Bowler
(Eds.), Memory in Autism (pp. 86-102). Cambridge: Cambridge University Press.
Farley, M., McMahon, W., Fombonne, E. .... Coon, H. (2009). Twenty-year outcome for
individuals with autism and average or near-average cognitive abilities. Autism Research,
2, 109-118.
Farrant, B., Mattes, E., Keelan, J., Hickey, M., & Whitehouse, A. (2013). Fetal testosterone,
socio-emotional engagement and language development. Infant and Child Development,
22, 119-132.
Fatemi, S. H., Aldinger, K., Ashwood, P. .... Welsh, J. P. (2012). Pathological role of the
cerebellum in autism. The Cerebellum, 11, 777-807.
Fay, W. & Schuler, A. (1980). Emerging Language in Autistic Children. London: Edward Arnold.
Fein, D., Barton, M., Eigsti, M. ....Tyson, K. (2013). Optimal outcome in individuals with a
history of autism. Journal of Child Psychology and Psychiatry, 54, 195-205.
Feldman, R. (2007). Parent-infant synchrony and the construction of shared timing:
Physiological precursors, developmental outcomes, and risk conditions. Journal of Child
Psychology and Psychiatry, 48, 329-354
Fernandez, C. (2013). Mindful storytellers: Emerging pragmatics and theory of mind devel-
opment. First Language, 33, 20-46.
Fernell, E., Bejerot, S., Westerlund, J. .... Humble, M. (2015). Autism spectrum disorder and
low vitamin D at birth. Molecular Autism, 6, 1.
Ferster, C. (1961). Positive reinforcement and behavioural deficits of autistic children.
Child Development, 32, 437-456.
Fisher, N., Happé, E., & Dunn, J. (2005). The relationship between vocabulary, grammar,
and false belief task performance in children with autistic spectrum disorders and chil-
dren with moderate learning difficulties. Journal of Child Psychology and Psychiatry, 46,
409-419.
Flippin, M., Reszka, S., & Watson, L. (2010). Effectiveness of the Picture Exchange
Communication System (PECS) on communication and speech for children with
autism spectrum disorders. American Journal of Speech-Language Pathology, 19, 178-195.
Florian, L., Dee, L., Byers, R., & Maudslay, L. (2000). What happens after the age of 14?
Mapping transition for pupils with profound and complex learning difficulties. British
Journal of Special Education, 27, 124-128
Fodor, J. (1983). The Modularity of Mind. Cambridge, MA: The MIT Press.
Fombonne, E. (1999). The epidemiology of autism. Psychological Medicine, 29, 769-787.
Forti, S., Valli, A., Perego, P. .... Molteni, M. (2011). Motor planning and control in autism:
A kinematic analysis of preschool children. Research in Autism Spectrum Disorders, 5,
834-842.

315
References

Foti, E, De Crescenzo, F., Vivanti, G., Menghini, D., & Vicari, S. (2015). Implicit learning
in individuals with autism spectrum disorders: A meta-analysis. Psychological Medicine,
45, 897-910.
Fountain, C., King, M., & Bearman, P. (2011). Age of diagnosis for autism: Individual and
community factors across 10 birth cohorts. Journal of Epidemiology and Community
Healiulosas0e=510)
Fournier, K., Hass, C., Naik, S., Lodha, N., & Cauraugh, J. (2010). Motor co-ordination in autism
spectrum disorders. Journal ofAutism and Developmental Disorders, 40, 1227-1240.
Foxx, R. M. & Mulick, J. A. (Eds.) (2015). Controversial Therapies for Autism and Intellectual
Disabilities: Fad, Fashion, and Science in Professional Practice. London: Routledge.
Frans, E., Sansin, S., Reichenberg, A. .... Hultman, C. (2013). Autism risk across generations.
JAMA Psychiatry, 70, 516-521.
Freeth, M., Milne, E., Sheppard, E., & Ramachandran, R. (2014). Autism across cultures.
In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook ofAutism and Pervasive
Developmental Disorders (Vol. 2, 4th edn) (pp. 997-1013). Hoboken, NJ, Wiley & Sons.
Freitag, C., Staal, W., Klauck, S., Duketis, E., & Waltes, R. (2010). Genetics of autistic disor-
ders. European Journal of Child and Adolescent Psychiatry, 19, 169-178.
Frenette, P., Dodds, L., MacPherson, K. .... Bryson, S. (2013). Factors affecting the age at
diagnosis of autism spectrum disorders in Nova Scotia, Canada. Autism, 17, 184-195.
Friston, K., Lawson, R., & Frith, C. (2013). On hyperpriors and hypopriors: Comment on
Pellicano and Burr. Trends in Cognitive Sciences, 17, 10-16.
Frith, U. (1989). Autism: Explaining the Enigma. Oxford: Blackwell.
Frith, U. (2003). Autism: Explaining the Enigma (2nd edn). Oxford: Blackwell.
Frith, U. (2013). Are there innate mechanisms that make us social beings? Scripta Varia 121.
Frith, U. & Frith, C. (2003). Development and neurophysiology of mentalizing. Philosophical
Transactions of the Royal Society of London B: Biological Sciences, 358, 459-473.
Frith, U. & Frith, C. (2010). The social brain: Allowing humans to boldly go where no other
species has been. Philosophical Transactions of the Royal Society of London B: Biological
Sciences, 365, 165-176.
Frith, U. & Happé, F. (1999). Theory of mind and self-consciousness: What is it like to be
autistic? Mind and Language, 14, 1-22.
Frith, U., Morton, J., & Leslie, A. (1991). The cognitive basis of a biological disorder: Autism.
Trends in Neurosciences, 14, 433-438.
Frost, L. & Bondy, A. (2011). A Clear Picture: The Use and Benefits of PECS. Brighton:
Pyramid Educational Consultants.
Gabriele, S., Sacco, R., & Persico, A. (2014). Blood serotonin levels in autism spectrum dis-
order. European Neuropsychopharmacology, 24, 919-929.
Gabriels, R., Agnew, J., Miller, L..... Hooks, E. (2008). Is there a relationship between
restricted, repetitive, stereotyped behaviours and abnormal sensory response in children
with autism spectrum disorders? Research in Autism Spectrum Disorders, 2, 660-670.
Gadow, K., Pinsonneault, J., Perlman, G., & Sadee, W. (2014). Association of dopamine gene
variants, emotion dysregulation and ADHD in autism spectrum disorder. Research in
Developmental Disorders, 35, 1658-1665.
Gaigg, S. (2012). The interplay between emotion and cognition in autism spectrum disor-
der: Implications for developmental theory. Frontiers in Integrative Neuroscience, 4, 113.
Gaigg, S., Bowler, D., Ecker, C., Calvo-Merino, B., & Murphy, D. (2015). Episodic recollec-
tion difficulties in ASD result from atypical relational encoding: Behavioral and neural
evidence. Autism Research, 8, 317-327.
Gaigg, S., Bowler, D., & Gardiner, J. M. (2014). Episodic but not semantic order mem-
ory difficulties in autism spectrum disorder: Evidence from the Historical Figures Task.
Memory, 22, 669-678.

316
 References

Gal, E., Dyke, M., & Passmore, A. (2002). Sensory differences and stereotyped movements
in children with autism. Behavioural Change, 19, 207-219.
Gallagher, S. (2004). Understanding interpersonal problems in autism. Philosophy, Psychiatry
and Psychology, 11, 199-217.
Gallese, V., Rochat, M., & Berchio, C. (2013). The mirror mechanism and its potential role
in autism. Developmental Medicine and Child Neurology, 55, 15-22.
Garcia-Primo, P., Hellendoorn, A., Charman, T. .... Moilanen, I. (2014). Screening for
autism spectrum disorders: State of the art in Europe. European Child and Adolescent
Psychiatry, 23, 1005-102).
Gargaro, B., Rinehart, N., Bradshaw, J., Tonge, B., & Sheppard, D. (2011). Autism and
ADHD. Neuroscience and Biobehavioural Reviews, 35, 1081-1088.
Gepner, B. & Mestre, D. (2002). Rapid visual motion integration deficit in autism. Trends in
Cognitive Sciences, 6, 255.
Gerhardt, P., Cicero, F., & Mayville, E. (2014). Employment and related service for adults
with ASD. In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook of Autism
and Pervasive Developmental Disorders (Vol. 2, 4th edn) (pp. 907-917). Hoboken, NJ:
Wiley & Sons.
German, T. & Leslie, A. (2004). No (social) construction without (meta-) representation:
Modular mechanisms as a basis for the capacity to acquire an understanding of mind.
Behavioral and Brain Sciences, 27, 106-107.
Gernsbacher, G., Sauer, E., Geye, H., Schweigert, E., & Goldsmith, H. (2008). Infant and
toddler oral- and manual-motor skills predict later speech fluency in autism. Journal of
Child Psychology and Psychiatry, 49, 43-50.
Gerrans, P. & Stone, V. (2008). Generous or parsimonious cognitive architecture? Cognitive
neuroscience and theory of mind. The British Journal for the Philosophy of Science, 59,
121-141.
Geschwind, D. (2011). Genetics of autism spectrum disorders. Trends in Cognitive Sciences,
15, 409-416.
Getso, B. & Ibrahim, S. (2014). Impact of endocrine disruptions on man. Bayero Journal of
Pure and Applied Sciences, 7, 93-100.
Ghanizadeh, A. (2012). Hyperbaric oxygen therapy for treatment of children with autism:
A systematic review of randomized trials. Medical Gas Research, 2, 13.
Ghaziuddin, M., Al-Khouri, I., & Ghaziuddin, N. (2002). Autistic symptoms following her-
pes encephalitis. European Journal of Child and Adolescent Psychiatry, 11, 142-146.
Gillberg, C. (1986). Onset at age 14 of a typical autistic syndrome. Journal of Autism and
Developmental Disorders, 16, 369-375.
Goines, P. & Ashwood, P. (2013). Cytokine dysregulation in autism spectrum disorders.
Neurotoxicology and Teratology, 36, 67-81.
Golan, O., Sinai-Gavrilov, Y., & Baron-Cohen, S. (2015). The Cambridge Mindreading Face-
Voice Battery for Children (CAM-C): Complex emotion recognition in children with
and without autism spectrum conditions. Molecular Autism, 6, 1.
Goldani, A., Downs, S., Widjaja, F., Lawton, B., & Hendren, R. (2014). Biomarkers in autism.
Frontiers in Psychiatry, 5, 100.
Gonzalez-Alzaga, B., Lacasafia, M., Aguilar-Gardufio, C. .... Hernandez, A. (2014). A sys-
tematic review of the effects of prenatal and postnatal organophosphate pesticide expo-
sure. Toxicology Letters, 230, 104-121.
Gordon, I., Vander Wyk, B., Bennett, R. .... Pelphrey, K. A. (2013). Oxytocin enhances
brain function in children with autism. Proceedings of the National Academy of Sciences,
110, 20953-20958.
Gould, J. & Ashton-Smith, J. (2011). Missed diagnosis or misdiagnosis? Girls and women
on the autism spectrum. Good Autism Practice, 12, 34-41.

317
References

Gould, K. (2011). Fantasy play as the conduit for change in the treatment of a six-year-old
boy with Asperger’s Syndrome. Psychoanalytic Inquiry, 31, 240-251.
Gowen, E. & Hamilton, A. (2013). Motor abilities in autism. Journal of Autism and
Developmental Disorders, 43, 323-344.
Grandin, T. & Scariano, M. (1986). Emergence Labelled Autistic. Novato, CA: Arena Press.
Grandjean, P. & Landigren, P. (2014). Neurobehavioural effects of developmental toxicity.
The Lancet: Neurology, 13, 330-338.
Granpeesheh, D., Tarbox, J., & Dixon, D. R. (2009). Applied behavior analytic interventions
for children with autism: A description and review of treatment research. Annals of
Clinical Psychiatry, 21, 162-173.
Grant, A. (2011). Fear, confusion and participation: Incapacity benefit claimants and
(compulsory) work focused interviews. Research, Policy and Planning, 28, 161-171.
Gray, D. (2002). Ten years on: A longitudinal study of families of children with autism.
Journal of Intellectual and Developmental Disability, 27, 215-222.
Green, J., Charman, T., McConachie, H. .... Barrett, B. (2010). Parent-medjated commu-
nication-focused treatment in children with autism (PACT): A randomised controlled
trial. The Lancet, 375, 2152-2160.
Green, J., Charman, T., Pickles, A. .... Jones, E. (2015). Parent-mediated intervention versus
no intervention for infants at high risk of autism. The Lancet Psychiatry, 2, 133-140.
Green, S. & Ben-Sasson, A. (2010). Anxiety disorders and sensory over-responsivity in chil-
dren with autism spectrum disorders: Is there a causal relationship? Journal of Autism
and Developmental Disorders, 40, 1495-1504.
Green, S., Ben-Sasson, A., Soto, T., & Carter, A. (2012). Anxiety and sensory over-responsivity
in toddlers with autism spectrum disorders: Bidirectional effects across time. Journal of
Autism and Developmental Disorders, 42, 1112-1119.
Greenberg, J., Krauss, M., Seltzer, M., Chou, R., & Hong, J. (2004). The effect of quality
of the relationship between mothers and adult children with schizophrenia, autism, or
Down syndrome on maternal well-being: The mediating role of optimism. American
Journal of Orthopsychiatry, 74, 14-25.
Greenspan, S. & Wieder, S. (1999). A functional developmental approach to autism spec-
trum disorders. Research and Practice for Persons with Severe Disabilities, 24, 147-161.
Greenspan, S. & Wieder, S. (2009). Engaging Autism: Using the Floortime Approach to Help
Children Relate, Communicate, and Think. Boston, MA: Da Capo Press.
Greimel, E., Nehrkom, B., Schulte-Ruther, M. .... Eickhoff, S. B. (2013). Changes in gray matter
development in autism spectrum disorder. Brain Structure and Function, 218, 929-942.
Griffith, E., Pennington, B., Wehner, E., & Rogers, S. (1999). Executive functions in young
children with autism. Child Development, 70, 817-832.
Grigorenko, E., Klin, A., Pauls, D. .... Volkmar, F. (2002). A descriptive study of hyperlexia
in a clinically referred sample of children with developmental delays. Journal of Autism
and Developmental Disorders, 32, 3-12.
Grzadzinski, M., Luyster, R., Spencer, A., & Lord, C. (2014). Attachment in young children
with autism spectrum disorders. Autism, 18, 85-96.
Grzadzinski, R., Huerta, M., & Lord, C. (2013). DSM-5 and autism spectrum disorders
(ASDs): An opportunity for identifying ASD subtypes. Molecular Autism, 4, 12.
Guilmatre, A., Dubourg, C., Mosca, A. L. .... Campion, D. (2009). Recurrent rearrange-
ments in synaptic and neurodevelopmental genes and shared biologic pathways in schiz-
ophrenia, autism, and mental retardation. Archives of General Psychiatry, 66, 947-956.
Gunnes, N., Surén, P., Bresnahan, M. .... Stoltenberg, C. (2013). Inter-pregnancy interval
and risk of autism spectrum disorder. Epidemiology, 24, 906-912.
Guthrie, W., Swineford, L., Wetherby, A., & Lord, C. (2013). Comparison of DSM-IV and
DSM-5 factor structure models for toddlers with autism spectrum disorder. Journal of
the American Academy of Child & Adolescent Psychiatry, 52, 797-805.

318
 References

Gutstein, S. (2000). Solving the Relationship Puzzle: A New Developmental Program that
Opens the Door to Lifelong Social and Emotional Growth.Arlington, TX: Future Horizons.
Gutstein, S., Burgess, A., & Montfort, K. (2007). Evaluation of the relationship develop-
ment intervention program. Autism, 11, 397-411.
Hahamy, A., Behrmann, M., & Malach, R. (2015). The idiosyncratic brain. Nature
Neuroscience, 18, 302-309.
Halepoto, D., Al-Ayadhi, L., & Salam, A. (2014). Therapeutic use of hyperbaric oxygen
therapy for children with autism spectrum disorder. Journal of the College of Physicians
and Surgeons Pakistan, 24, 508-514.
Halepoto, D., Bashir, S., & Al-Ayadhi, L. (2014). Possible role of brain-derived neurotrophic
factor (BDNF) in autism spectrum disorder. Journal of the College of Physicians and
Surgeons Pakistan, 24, 274-278.
Halfon, N. & Kuo, A. (2013). What DSM-5 could mean to children with autism and their
families. Journal of the American Academy of Pediatrics, 167, 608-613.
Hamilton, A. (2013). Reflecting on the mirror neuron system in autism. Developmental
Cognitive Neuroscience, 3, 91-105.
Hamilton-Giachritsis, C. & Browne, K. (2012). Forgotten children? An update on young
children in institutions across Europe. Early Human Development, 88, 911-914.
Hansen, S., Schendel, D., & Parner, E. (2015). Explaining the increase in the prevalence of
autism spectrum disorders. JAMA Pediatrics, 169, 56-62.
Happé, F. (1994). Autism: An Introduction to Psychological Theory. London: UCL Press.
Happé, F. (1995). Understanding minds and metaphors. Metaphor and Symbolic Activity,
10, 275-295.
Happé, F. (2003). Theory of mind and the self. Annals of the New York Academy of Sciences,
1001, 134-144.
Happé, F. (2011). Criteria, categories, and continua: Autism and related disorders in
DSM-5. Journal of the American Academy of Child and Adolescent Psychiatry, 50, 540-542.
Happé, F. & Frith, U. (2006). The weak coherence account: Detail-focused cognitive style
in autism spectrum disorders. Journal of Autism and Developmental Disorders, 36, 5-23.
Happé, F. & Frith, U. (2010). Autism and Talent. Oxford: Oxford University Press.
Happé, F. & Frith, U. (2014). Annual research review: Towards a developmental neurosci-
ence of atypical social cognition. Journal of Child Psychology and Psychiatry, 55,553-577.
Happé, F.,, Ronald, A., & Plomin, R. (2006). Time to give up on a single explanation for
autism. Nature Neuroscience, 9, 1218-1220.
Hare, D. & Malone, C. (2004). Catatonia and autistic spectrum disorders. Autism, 8, 183-195.
Hare, D., Gould, J., Mills, R., & Wing, L. (1999). A Preliminary Study of Individuals with
ASDs in Three Special Hospitals in England. London: National Autistic Society.
Hare, D., Pratt, C., Burton, M., Bromley, J., & Emerson, E. (2004). The health and social
care needs of family carers supporting adults with autistic spectrum disorders. Autism,
8, 425-444,
Harms, M., Martin, A., & Wallace, G. (2010). Facial emotion recognition in autistic spec-
trum disorders: A review of behavioural and neuroimaging studies. Neuropsychology
Review, 20, 290-322.
Hastings, R., Kovshoff, H., Brown, T. .... Remington, B. (2005). Coping strategies in
mothers and fathers of preschool and school-age children with autism. Autism, 9,
377-391.
Hastings, R., Kovshoff, H., Ward, N. .... Remington, B. (2005). Systems analysis of stress and
positive perceptions in mothers and fathers of pre-school children with autism. Journal
of Autism and Developmental Disorders, 35, 635-644.
Hayes, S. & Watson, S. (2013). The impact of parenting stress: A meta-analysis of studies
comparing the experience of parenting stress in parents of children with and without
autism spectrum disorder. Journal of Autism and Developmental Disorders, 43, 629-642.

319
References

Hazen, E., McDougle, C., & Volkmar, F. (2013). Changes in the diagnostic criteria for
autism in DSM-5: Controversies and concerns. Journal of Clinical Psychiatry, 74, 739.
Hazlett, H., Poe, M., Gerig, G. .... Piven, J. (2011). Early brain overgrowth in autism asso-
ciated with an increase in cortical surface area before age 2 years. JAMA Psychiatry, 68,
467-476.
Heaton, P. (2003). Pitch memory, labelling and disembedding in autism. Journal of Child
Psychology and Psychiatry, 44, 543-551.
Heaton, P., Hermelin, B., & Pring, L. (1998). Autism and pitch processing: A precursor for
savant ability? Music Perception, 15, 291-305.
Heidgerken, A., Geffken, G., Modi, A., & Frakey, L. (2005). A survey of autism knowledge
in a health care setting. Journal ofAutism and Developmental Disorders, 35, 323-330.
Heiman, T. (2002). Parents of children with disabilities: Resilience, coping and future
expectations. Journal of Developmental and Physical Disabilities, 14, 159-171.
Heinrichs, M. & Domes, G. (2008). Neuropeptides and social behaviour: Effects of oxytocin
and vasopressin in humans. Progress in Brain Research, 170,337-350. . «
Henninger, N. & Taylor, J. (2013). Outcomes in adults with autism spectrum disorders.
Autism, 17, 103-116.
Herbert, J. & Brandsma, L. (2002). Applied behavior analysis for childhood autism: Does
the emperor have clothes? The Behavior Analyst Today, 3, 45.
Herbert, M. & Weintraub, K. (2013). The Autism Revolution: Whole-Body Strategies for
Making Life All It Can Be. New York: Ballantine Books.
Hermann, I., Haser, V., van Elst, L. .... Konieczny, L. (2013). Automatic metaphor pro-
cessing in adults with Asperger syndrome. European Archives of Psychiatry and Clinical
Neuroscience, 263, S177-S187.
Hermelin, B. (2001). Bright Splinters of the Mind. London: Jessica Kingsley.
Hermelin, B. & O’Connor, N. (1970). Psychological Experiments with Autistic Children.
Oxford: Pergamon Press.
Hermelin, B. & O’Connor, N. (1985). Logico-affective states and non-verbal language. In
E. Schopler & G. Mesibov (Eds.), Communication Problems in Autism (pp. 293-309).
New York: Plenum Press.
Hertz-Picciotto, I. & Delwiche, L. (2009). The rise in autism and the role of age at diagnosis.
Epidemiology, 20, 84-90.
Hess, E. (2013). DIR®/Floortime™: Evidence-based practice towards the treatment of
autism and sensory processing disorder in children and adolescents. International Journal
of Child Health and Human Development, 6, 267-274.
Hill, A., Zuckerman, K., & Fombonne, E. (2014). Epidemiology of autism spectrum disorders.
In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook of Autism and Pervasive
Developmental Disorders (Vol. 2, 4th edn) (pp. 3-27). Hoboken, NJ: Wiley & Sons.
Hill, E. (2004). Evaluating the theory of impairments of executive function in autism.
Developmental Review, 24, 189-233.
Hill, E., Berthoz, S., & Frith, U. (2004). Brief report: Cognitive processing of own emotions
in individuals with autistic spectrum disorder and in their relatives..Journal of Autism
and Developmental Disorders, 34, 229-235.
Hill, S., Wagner, E., Shedlarski, J., & Sears, S. (1977). Diurnal cortisol and temperature vari-
ation of normal and autistic children. Developmental Psychobiology, 10, 579-583.
Hobson, R. P. (1990). On the origins of self and the case of autism. Development and
Psychopathology, 2, 163-181.
Hobson, R. P. (1993). Autism and the Development of Mind. Hove: Lawrence Erlbaum
Associates.
Hobson, R. P. (2014). Autism and emotion. In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey
(Eds.), Handbook of Autism and Pervasive Developmental Disorders (Vol. 2, 4th edn) (pp.
332-353). Hoboken, NJ: Wiley & Sons.

320
 References

Hobson R. P., Chidambi G., Lee A. & Racine T. (2006). Foundations for self-awareness: An
bast ee through autism. Monographs of the Society for Research in Child Development.
an 1: i-166.
Hobson, R. P., Garcia-Pérez, R., & Lee, A. (2010). Person-centred (deictic) expressions and
autism. Journal of Autism and Developmental Disorders, 40, 403-415.
Hobson, R. P. & Lee, A. (2010). Reversible autism among congenitally blind children?
A controlled follow-up study. Journal of Child Psychology and Psychiatry, 51, 1235-1241.
Hobson, R. P., Ouston, J., & Lee, A. (1989). Naming emotion in faces and voices: Abilities
and disabilities in autism and mental retardation. British Journal of Developmental
Psychology, 7, 237-250.
Hodgetts, S., Nicholas, D., Zwaigenbaum, L., & McConnell, D. (2013). Parents’ and profes-
sionals’ perceptions of family-centered care for children with autism spectrum disorder
across service sectors. Social Science and Medicine, 96, 138-146. ,
Hofvander, B., Delorme, R., Chaste, P. .... Leboyer, M. (2009). Psychiatric and psycho-
social problems in adults with normal-intelligence autism spectrum disorders. BMC
Psychiatry, 9, 1.
Hosenbocus, S. & Chahal, R. (2012). A review of executive function deficits and pharma-
cological management in children and adolescents. Journal of the Canadian Academy of
Child and Adolescent Psychiatry, 21, 223-229.
Houghton, K., Schuchard, J., Lewis, C., & Thompson, C. (2013). Promoting child-initiated
social-communication in children with autism: Son-Rise Program intervention effects.
Journal of Communication Disorders, 46, 495-506.
Howlin, P. (2000). Outcome in adult life for more able individuals with autism or Asperger
syndrome. Autism, 4, 63-83.
Howlin, P., Alcock, J., & Burkin, J. (2005). An 8-year follow-up of a specialist supported
employment service for high-ability adults with autism or Asperger syndrome. Autism,
9, 533-569.
Howlin, P., Goode, S., Hutton, J., & Rutter, M. (2004). Adult outcome for children with
autism. Journal of Child Psychology and Psychiatry, 45, 212-229.
Howlin, P., Savage, S., Moss, P., Tempier, A., & Rutter, M. (2014). Cognitive and language
skills in adults with autism. Journal of Child Psychology and Psychiatry, 55, 49-58.
Hubbard, A., McNealy, K., Zeeland, S. .... Dapretto, M. (2012). Altered integration of
speech and gesture in children with autism spectrum disorders. Brain and Behavior,
2, 606-619.
Huerta, M., Bishop, S., Duncan, A., & Lord, C. (2012). Application of DSM-5 criteria for
autism spectrum disorder to three samples of children with DSM-IV diagnoses of perva-
sive developmental disorders. American Journal of Psychiatry, 169, 1056-1064.
Hughes, C. (1996). Brief report: Planning problems in autism at the level of motor control.
Journal of Autism and Developmental Disorders, 26, 99-107.
Hughes, P. J. (2007). Reflections: Me and Planet Weirdo. London: ChipmunkPublishing.
Hultman, C., Sandin, S., Levine, S., Lichtenstein, P., & Reichenberg, A. (2011). Advancing
paternal age and risk of autism. Molecular Psychiatry, 16, 1203-1212.
Hume, K. & Odom, S. (2007). Effects of an individual work system on the independent
functioning of students with autism. Journal of Autism and Developmental Disorders, 37,
1166-1180.
Hurlburt, K. & Chalmers, L. (2004). Employment and adults with Asperger syndrome.
Focus on Autism and Other Developmental Disabilities, 19, 215-222.
Hussman, J. (2001). Suppressed GABAergic inhibition as a common factor in suspected
etiologies of autism. Journal of Autism and Developmental Disorders, 31, 247-248.
Hutt, S., Hutt, C., Lee, D., & Ounsted, C. (1964). Arousal and childhood autism. Nature, 204, 908.
Hutt, S., Hutt, C., Ounsted, C., & Lee, D. (1965). A behavioural and electroencephalo-
graphic study of autistic children. Journal of Psychiatry Research, 3, 181-197.

321
References

larocci, G. & McDonald, J. (2006). Sensory integration and the perceptual experience of
persons with autism. Journal of Autism and Developmental Disorders, 36, 77-90.
Ibrahim, S., Voigt, R., Katusic, S., Weaver, A., & Barbaresi, W. (2009). Incidence of gastroin-
testinal symptoms in children with autism. Pediatrics, 124, 680-684.
Isanon, A. (2001). Spirituality and the Autistic Spectrum: Of Falling Sparrows. London: Jessica
Kingsley. ’ ‘
Itahashi, T., Yamada, T., Nakamura, M. .... Hashimoto, R. (2015). Linked alterations in gray
and white matter in adults with high-functioning autism spectrum disorder. Neurolmage:
Clinical, 7, 155-169.
Ives, M. & Munro, N. (2002). Caring for a Child with Autism. London: Jessica Kingsley.
Jarrold, C. (2003). A review of research into pretend play in autism. Autism, 7, 379-390.
Jarrold, C., Boucher, J., & Smith, P. K. (1996). Generativity deficits in pretend play in
autism. British Journal of Developmental Psychology, 14, 275-300.
Jarrold, C., Butler, D., Cottington, E., & Jimenez, F. (2000). Linking theory of mind and cen-
tral coherence bias in autism and in the general population. Developmental Psychology,
36, 126-138.
Jarvinen-Pasley, A., Wallace, G., Ramus, F., Happé, F., & Heaton, P. (2008). Enhanced per-
ceptual processing of speech in autism. Developmental Science, 11, 109-121.
Jones, A., Happé, F., Gilbert, F, Burnett, S., & Viding, E. (2010). Feeling, caring, knowing:
Different types of empathy in boys with psychopathic tendencies and autism spectrum
disorder. Journal of Child Psychology and Psychiatry, 51, 1188-1197.
Jones, C., Happé, F., Golden, H. .... Charman, T. (2009). Reading and arithmetic in adolescents
with autism spectrum disorders. Neuropsychology, 23, 718-728.
Jones, E., Gliga, T., Bedford, R., Charman, T., & Johnson, M. (2014). Developmental path-
ways to autism: A review of prospective studies of infants at risk. Neuroscience and
Biobehavioural Reviews, 39, 1-33.
Jones, W., Carr, K., & Klin, A. (2008). Absence of preferential looking to the eyes of
approaching adults predicts level of social disability in 2-year-old toddlers with autism
spectrum disorder. Archives of General Psychiatry, 65, 946-954.
Jordan, R. (2001). Effects of culture on service provision for people with autistic spectrum
disorders. Good Autism Practice, 2, 332-338.
Jordan, R. (2005). Managing autism and Asperger’s syndrome in current educational provi-
sion. Developmental Neurorehabilitation, 8, 104-108.
Jordan, R. (2008). Autism spectrum disorders: A challenge and a model for inclusion in
education. British Journal of Special Education, 35, 11-15.
Jordan, R. & Powell, S. (1995). Understanding and Teaching Children with Autism. Chichester:
John Wiley & Sons.
Josefi, O. & Ryan, V. (2004). Non-directive play therapy for young children with autism:
A case study. Clinical Child Psychology and Psychiatry, 9, 533-551.
Kahane, L. & El-Tahir, M. (2015). Attachment behavior in children with Autistic Spectrum
Disorders. Advances in Mental Health and Intellectual Disabilities, 9, 79-89.
Kakooza-Mwesige, A., Wachtel, L., & Dhossche, D. (2008). Catatonia in-autism. European
Journal of Child and Adolescent Psychiatry, 17, 327-335.
Kalkbrenner, A., Schmidt, R., & Penlesky, A. (2014). Environmental chemical exposures
and autism spectrum disorders. Current Problems in Pediatric and Adolescent Health
Care, 44, 277-318.
Kaminsky, L. & Dewey, D. (2002). Psychosocial adjustment in siblings of children with
autism. Journal of Child Psychology and Psychiatry, 43, 225-232.
Kana, R., Uddin, L., Kenet, T., Chugani, D., & Muller, R.-A. (2014). Brain connectivity in
autism. Frontiers in Human Neuroscience, 8, 1—4.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2,217-250.

322
 References

Kapp, S., Gillespie-Lynch, K., Sherman, L., & Hutman, T. (2013). Deficit, difference, or
both? Autism and neurodiversity. Developmental Psychology, 49, 59.
Karmiloff-Smith, A. (1992). Beyond Modularity. Cambridge, MA: The MIT Press.
Karmiloff-Smith, A. (2006). The tortuous route from genes to behavior: A neuroconstruc-
tivist approach. Cognitive, Affective and Behavioral Neuroscience, 6, 9-17.
Kasarpalkar, N., Kothan, S., & Dave, U. (2014). Brain-derived neurotrophic factor (BDNF)
in children with autism spectrum disorder. Annals of Neuroscience, 21, 129-133.
Kasirer, A. & Mashal, N. (2014). Verbal creativity in autism. Frontiers in Human Neurosciences,
8615s
Kates, W., Burnette, C., Eliez, S. .... Pearlson, G. (2004). Neuroanatomic variation in
monozygotic twin pairs discordant for the narrow phenotype for autism. American
Journal of Psychiatry, 161, 539-546.
Kato, K., Mikami, K., Akama, F. .... Matsumoto, H. (2013). Clinical features of suicide
attempts in adults with autism spectrum disorders. General Hospital Psychiatry, 35,
50-53.
Kaufman, B. & Kaufman, S. (1976). Son-Rise. New York: Harper Collins.
Keen, D., Reid, F, & Arnone, D. (2010). Autism, ethnicity and maternal immigration. British
Journal of Psychiatry, 196, 274-281.
Kelley, E. (2011). Language in ASD. In D. Fein (Ed.), The Neuropsychology of Autism
(pp. 123-137). Oxford: Oxford University Press.
Kelley, E., Paul, J., Fein, D., & Naigles, L. (2006). Residual language deficits in optimal out-
come children with a history of autism Journal of Autism and Developmental Disorders,
36, 807-828.
Kemper, T. & Bauman, M. (1998). Neuropathology of infantile autism. Journal of
Neuropathology and Experimental Neurology, 57, 645-652.
Kenny, L., Molins, B., Buckley, C. ... Pellicano, E. (2015). Which terms should be used to
describe autism? Perspectives from the UK autism community. Autism, 19, 1-21.
Kent, R., Carrington, S., Le Couteur, A. .... Leekam, S. (2013). Diagnosing autism spectrum
disorder: Who will get a DSM-5 diagnosis? Journal of Child Psychology and Psychiatry,
54, 1242-1250.
Kern, J., Geier, D., & Geier, M. (2014). Evaluation of regression in autism spectrum disorder
based on parental reports. North American Journal of Medical Sciences, 6, 41-47.
Kern, J., Geier, D., Sykes, L., & Geier, M. (2013). Evidence of neurodegeneration in autism
spectrum disorder. Translational Neurodegeneration, 2, 1.
Kim, S. & Lord, C. (2010). Restricted and repetitive behaviors in toddlers and preschoolers
with autism spectrum disorders based on the Autism Diagnostic Observation Schedule
(ADOS). Autism Research, 3, 162-173.
Kim, S. & Lord, C. (2012a). New autism diagnostic interview-revised algorithms for
toddlers and young preschoolers from 12 to 47 months of age. Journal of Autism and
Developmental Disorders, 42, 82-93.
Kim, S. & Lord, C. (2012b). Combining information from multiple sources for the diagnosis
of autism spectrum disorders for toddlers and young preschoolers from 12 to 47 months
of age. Journal of Child Psychology and Psychiatry, 53, 143-151.
Kim, S. H., Paul, R., Tager-Flusberg, H., & Lord, C. (2014). Language and communication
in autism. In F. Volkmar, S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook of Autism
and Pervasive Developmental Disorders (Vol. 2, 4th edn.) (pp. 230-262). Hoboken, NJ:
Wiley & Sons.
Kimhi, Y., Shoam-Kugelmas, D., Ben-Artzi, .... Bauminger-Zviely, N. (2014). Theory
of mind and executive function in preschoolers with typical development versus
intellectually able preschoolers with autism spectrum disorder. Journal of Autism
and Developmental Disorders, 44, 2341-2354.

323
References

Kimura, M., Hanaie, R., Mohri, I. .... Masako, T. (2013). Altered microstructural connectivity
of the arcuate fasciatus is related to language disability in children with autism
spectrum disorder. Journal of Brain Sciences, 42, 21-42.
King, B. & Lord, C. (2011). Is schizophrenia on the autistic spectrum? Brain Research, 1380,
34-41.
Kjelgaard, M. & Tager-Flusberg, H. (2001). An investigation of language profiles in autism:
Implications for genetic subgroups. Language and Cognitive Processes, 16, 287-308.
Klei, L., Sanders, S., Murtha, M. .... Devlin, B. (2012). Common genetic variants, acting
additively are a CHAOE risk factor for autism. Molecular Autism, 3, 1-9.
Klein, K. & Diehl, E. (2004). Relationship between MMR vaccine and autism. Annals of
Pharmacotherapy, 38, 1297-1300.
Klintwall, L., & Eikeseth, S. (2014). Early and Intensive Behavioral Intervention (EIBI)
in autism. In V. Patel, V. Preedy & C. Martin (Eds.), Comprehensive Guide to Autism
(pp. 117-137). New York: Springer.
Koegel, R., Kern, L., & Koegel, L. (2006). Pivotal Response Treatments. for Autism:
Communication, Social, and Academic Development. Baltimore, MD: Paul H. Brookes.
Koegel, R. & Koegel, L. (2012). The PRT Pocket Guide. Baltimore, MD: Paul H. Brookes.
Kolvin, I. (1971). Studies in childhood psychoses, I: Diagnostic criteria and classification.
British Journal of Psychiatry, 118, 381-384.
Konidaris, J. (2005). A sibling’s perspective on autism. In F. Volkmar, R. Paul, A. Klin &
D. Cohen (Eds.), Handbook ofAutism and Pervasive Developmental Disorders (Vol. 2, 3rd
edn) (pp. 1265-1275). Hoboken, NJ: John Wiley & Sons.
Kovacs, A., Téglas, E., & Endress, A. (2010). The social sense: Susceptibility to others’ beliefs
in human infants and adults. Science, 330(6012), 1830-1834.
Kraijer, D. (2000). Review of adaptive behaviour studies in mentally retarded persons
with autism/pervasive developmental disorder. Journal of Autism and Developmental
Disorders, 30, 39-48.
Krause, I., He, X., Gershwin, M., & Schoenfeld, Y. (2002). Review of autoimmune factors
in autism. Journal of Autism and Developmental Disorders, 32, 337-345.
Krauss, M. & Seltzer, M. (2000). An unanticipated life: The impact of lifelong caregiving. In
H. Bersani (Ed.), Responding to the Challenge: International Trends and Current Issues in
Developmental Disabilities (pp. 173-188). Northampton, MA: Brookline Books.
Krauss, M., Seltzer, M., & Jacobson, H. (2005). Adults with autism living at home or
in non-family settings: Positive and negative aspects of residential status. Journal of
Intellectual Disability Research, 49, 111-124.
Krcek, T. E. (2013). Deconstructing disability and neurodiversity: Controversial issues for
autism and implications for social work. Journal of Progressive Human Services, 24, 4-22.
Kriette, T. & Noelle, D. (2015). Dopamine and the development of executive function in
autism spectrum disorders. PLoS One, 10, e0121605.
Krug, D., Arick, J., & Almond, P. (1978). ABC—Autism Behaviour Checklist. Portland, OR:
ASIEP Education Co.
Kumsta, R., Kreppner, J., Kennedy, M. .... Sonuga-Barke, E. (2015). Psychological conse-
quences of early global deprivation. European Psychologist, 20, 138-151.
Kurtz, P., Boelter, E., Jarmolowicz, D., Chin, M., & Hagopian, L. (2011). An analysis of
functional communication training as an empirically supported treatment for problem
behavior displayed by individuals with intellectual disabilities. Research in Developmental
Disabilities, 32, 2935-2942.
Kyrkou, M. (2005). Health issues and quality of life in women with intellectual disability.
Journal of Intellectual Disability Research, 49, 770-777.
Lai, M.-C., Lombardo, M., Chakrabarti, B., & Baron-Cohen, S. (2013). Subgrouping the
autism ‘Spectrum’: Reflections on DSM-5. PLoS Biology, 11, e1001544.

324
 References

Lam, J., Sutton, P., Kalkbrenner, A., .... Woodruff, T. (2016). A systematic review and
meta-analysis of multiple airborne pollutants and autism spectrum disorder. PLoS One,
11(9), e€0161851.
Lang, R., O'Reilly, M., Healy, O. .... Didden, R. (2012). Sensory integration therapy for
autism spectrum disorders: A systematic review. Research in Autism Spectrum Disorders,
6, 1004-1018.
Lawson, R., Rees, G., & Friston, K. (2014). An aberrant precision account of autism. Frontiers
in Human Neurosciences, 8.
Le Couteur, A., Bailey, A., Goode, S., Pickles, A. .... Rutter, M. (1996).A broader phenotype
of autism: The clinical spectrum in twins. Journal of Child Psychology and Psychiatry,
37, 785-801.
Le Couteur, A., Baird, G., & National Initiative for Autism Screening and Assessment
(NIASA) (2003). National Autism Plan. London: National Autistic Society.
Leary, M. & Hill, D. A. (1996). Moving on: Autism and movement disturbance. Mental
Retardation, 34, 39-53.
LeClerc, S. & Easley, D. (2015). Pharmacological therapies for autism spectrum disorder.
Pharmacy and Therapeutics, 40, 389.
LeDoux, J. (1998). The Emotional Brain: The Mysterious Underpinnings of Emotional Life.
New York: Simon & Schuster.
Lee, A. & Hobson, R. P. (1998). On developing self concepts: A controlled study of
children and adolescents with autism. Journal of Child Psychology and Psychiatry,
39, 1131-1141.
Lee, M. S., Choi, T. Y., Shin, B. C., & Ernst, E. (2012). Acupuncture for children with autism
spectrum disorders: A systematic review of randomized clinical trials. Journal of Autism
and Developmental Disorders, 42, 1671-1683.
Leekam, S., Prior, M., & Uljarevic, M. (2011). Restricted and repetitive behaviors in autism
spectrum disorders: A review of research in the last decade. Psychological Bulletin, 137,
562-593.
Leekam, S. & Ramsden, C. (2006). Dyadic orienting and joint attention in preschool chil-
dren with autism. Journal of Autism and Developmental Disorders, 36, 185-197.
Leinonen, E., Letts, C., & Smith, B. R. (2000). Children’s Pragmatic Communication
Difficulties. London: Whurr.
Leonard, L. (2000). Children with Specific Language Impairment. Cambridge, MA: The MIT
Press.
Lerna, A., Esposito, D., Conson, M., & Massagli, A. (2014). Long-term effects of PECS on
social-communicative skills of children with autism spectrum disorders. International
Journal of Language and Communication Disorders, 49, 478-485.
Leslie, A. (1987). Pretense and representation in infancy: The origins of theory of mind.
Psychological Review, 94, 412-427.
Levy, A. & Perry, A. (2011). Outcomes in adolescents and adults with autism. Research in
Autism Spectrum Disorders, 5, 1271-1282.
Levy, S., Giarelli, E., Lee, L.-C. .... Rice, C. (2010). Autism spectrum disorder and co-occurring
developmental, psychiatric and medical conditions among children in multiple populations
of the United States. Developmental and Behavioural Pediatrics, 31, 267-275.
Lewis, V. & Boucher, J. (1988). Spontaneous, instructed, and elicited play in relatively able
autistic children. British Journal of Developmental Psychology, 6, 325-339.
Lewis, V. & Boucher, J. (1991). Skill, content, and generative strategies in autistic children’s
drawings. British Journal of Developmental Psychology, 9, 393-416.
Li, H., Xue, Z., Ellmore, T., Frye, R., & Wong, S. (2014). Network-based analysis reveals
stronger local diffusion-based connectivity ... in brains of high-functioning children
with autism spectrum disorders. Human Brain Mapping, 35, 396-413.

325
References

Li, W,, Mai, X., & Liu, C. (2014). The default mode network and social understanding of
others: What do brain connectivity studies tell us? Frontiers in anienate Neuroscience,
8, 74ff.
ee L., DeRamus, T., Deshpande, H., & Kana, R. (2014). Surface-based morphometry
of the canta Alcor ase of autism specicain disorders. Neuropsychologia, 62, 1-10.
Lidstone, J., Uljarevic, M., Sullivan, J. .... Leekam, S. (2014). Relations among restricted and
repetitive behaviours, anxiety and sensory features in children with autism spectrum
disorders. Research in Autism Spectrum Disorders, 8, 82-92.
Lilley, R. (2013). It’s an absolute nightmare: Maternal experiences of enrolling children
diagnosed with autism in primary school in Sydney, Australia. Disability and Society, 28,
514-526.
Lincoln, A. J., Allen, M., & Killman, A. (1995). The assessment and interpretation of intel-
lectual abilities in people with autism. In E. Schopler & G. Mesibov (Eds.), Learning and
Cognition in Autism (pp. 89-118). New York: Plenum Press.
Lind, S. (2010). Memory and the self in autism. Autism, 14, 430-456. “
Lind, S. & Bowler, D. (2010). Episodic memory and episodic future thinking iin adults with
autism. Journal ofAbnormal Psychology, 119, 896-905.
Lind, S., Williams, D., Bowler, D., & Peel, A. (2014). Episodic memory and episodic future
thinking impairments in high-functioning autism spectrum disorder: An underlying dif-
ficulty with scene construction or self-projection? Neuropsychology, 28, 55.
Lindell, A. & Hudry, K. (2013). Atypicalities in cortical structure, handedness, and func-
tional lateralisation for language in autism spectrum disorders. Neuropsychology Review,
23,2576270)
Liss, M., Saulnier, C., Fein, D., & Kinsbourne, M. (2006). Sensory and attention abnormali-
ties in autistic spectrum disorders. Autism, 10, 155-172.
Liu, J., McErlean, R., & Dadds, M. (2012). Are we there yet? The clinical potential of intra-
nasal oxytocin in psychiatry. Current Psychiatry Reviews, 8, 37-48.
Liu, M.-J., Shih, W.-L., & Ma, L.-Y. (2011). Are children with Asperger syndrome creative
in divergent thinking and feeling? Research in Autism Spectrum Disorders, 85, 294-298.
Lombardo, M., Ashwin, E., Auyeung, B. .... Baron-Cohen, S. (2012). Fetal programming
effects of testosterone on the reward system and behavioural approach tendencies in
humans. Biological Psychiatry, 72, 839-847.
Lombardo, M., Barnes, S., Wheelwright, S., & Baron-Cohen, S. (2007). Self-referential cog-
nition and empathy in autism. PLoS One, 2, e883.
Lombardo, M. & Baron-Cohen, S. (2011). The role of the self in mindblindness in autism.
Consciousness and Cognition, 20, 130-140.
LoParo, D. & Waldman, I. (2014). The oxytocin receptor gene (OXTR) is associated with
autism spectrum disorder. Molecular cones 20, 640-646.
Lord, C., Cook, E., Blumenthal, B., & Amarel, D. (2000). Autistic spectrum disorders.
Neuron, 28, 355-363.
Lord, C. & Costello, C. (2005). Diagnostic instruments in autistic spectrum disorders.
In F. Volkmar, R. Paul, A. Klin & D. Cohen (Eds.), Handbook of Autism and Pervasive
Developmental Disorders (Vol. 2, 3rd edn) (pp. 730-771). Hoboken, NJ: John Wiley
& Sons.
Lord, C. & Paul, R. (1997). Language and communication in autism. In D. Cohen &
F. Volkmar (Eds.), Handbook of Autism and Pervasive Developmental Disorders
(2nd edn) (pp. 195-225). New York: John Wiley.
Lord, C., Risi, S., DiLavore, P. .... Pickles, A. (2006). Autism from 2 to 9 years of age.
Archives of General Psychiatry, 63, 694-701.
Lord, C., Rutter, M., DiLavore, P., & Risi, S. (1999). Autism Diagnostic Observation Schedule.
Los Angeles, CA: Western Psychological Services.

326
 References

Loucas, T., Charman, T., Pickles, A. .... Baird, G. (2008). Autistic symptomatology and lan-
guage ability in autism spectrum disorder and specific language impairment. Journal of
Child Psychology and Psychiatry, 49, 1184-1192.
Lovaas, I., Calouri, K., & Jada, J. (1989). The nature of behavioral treatment and research
with young autistic persons. In C. Gillberg (Ed.), Diagnosis and Treatment ofAutism (pp.
285-305). New York: Springer.
Loveland, K. & Landry, S. (1986). Joint attention in autism and developmental language
delay. Journal of Autism and Developmental Disorders, 16, 335-349.
Low, J., Goddard, E., & Melser, J. (2009). Generativity and imagination in autism spectrum
disorder: Evidence from individual differences in children’s impossible entities drawings.
British Journal of Developmental Psychology, 27, 425-444.
Loynes, F. (2001). The Rising Challenge:ASurvey ofLocal Education Authorities on Educational
Provision for Pupils with Autistic Spectrum Disorders. London: All Party Parliamentary
Group on Autism.
Lundin, A. & Dwyer, J. (2014). Autism: Can dietary interventions and supplements work?
Nutrition Today, 49, 196-206.
Luyster, R., Gotham, K., Guthrie, W. .... Richler, J. (2009). The Autism Diagnostic
Observation Schedule-Toddler Module: A new module of a standardized diagnostic
measure for autism spectrum disorders. Journal of Autism and Developmental Disorders,
39, 1305-1320.
Luyster, R., Kadlec, M., Carter, A., & Tager-Flusberg, H. (2008). Language assessment
and development in toddlers with autism spectrum disorders. Journal of Autism and
Developmental Disorders, 38, 1426-1438.
Luyster, R., Seery, A., Talbott, M., & Tager-Flusberg, H. (2011). Identifying early-risk mark-
ers and developmental trajectories for language impairment in neurodevelopmental
disorders. Developmental Disabilities Research Reviews, 17, 151-159.
Lyall, K., Munger, K., O’Reilly, E., Santangelo, S., & Ascherio, A. (2013). Maternal dietary fat
intake in association with autism spectrum disorders. American Journal of Epidemiology,
178, 209-220.
Lyall, K., Schmidt, R., & Hertz-Picciotto, I. (2014). Environmental factors in the pre-
conception and prental periods in relation to risk for ASD. In F. Volkmar, S. Rogers,
R. Paul & K. Pelphrey (Eds.), Handbook of Autism and Pervasive Developmental
Disorders (Vol. 2, 4th edn) (pp. 424-456). Hoboken, NJ: Wiley & Sons.
Lyall, S., Pauls, D., Spiegelman, D., Ascherio, A., & Santangelo, S. (2012). Pregnancy com-
plications and obstetric suboptimality in association with autism spectrum disorders in
children. Autism Research, 5, 21-30.
Lyons, V. & Fitzgerald, M. (2013). Critical evaluation of the concept of autistic creativity. In
M. Fitzgerald (Ed.), Recent Advances in Autism Spectrum Disorders (Vol. 1). InTech, DOI:
10.5772/54465. Available from www.intechopen.com/books.
Mackintosh, N. (2011). IQ and Human Intelligence (2nd edn). Oxford: Oxford University Press.
MacNeil, L. & Mostofsky, S. (2012). Specificity of dyspraxia in children with autism.
Neuropsychology, 26, 165-171.
Maddox, B. & White, S. (2015). Comorbid social anxiety disorder in adults with autism
spectrum disorder. Journal of Autism and Developmental Disorders, 45, 3949-3960.
Mahler, M. (1952). On child psychosis and schizophrenia: Autistic and symbiotic psychosis.
Psychoanalytic Study of the Child, 7, 286-305.
Major, N., Peacock, G., Ruben, W., Thomas, J., & Weitzman, C. (2013). Autism training in
pediatric residency. Journal of Autism and Developmental Disorders, 43, 1171-1177.
Makris, M., Polyzos, K., Mavros, M. .... Falagas, M. (2012). Safety of hepatitis B, pneumo-
coccal polysaccharide and meningococcal polysaccharide vaccines in pregnancy. Drug
Safety, 35, 1-14.

327
References

Mandell, D., Knashawn H., Ming Xie .... Marcus, S. (2010). County-level variation in the
prevalence of Meedicaideeucelled idea with autism spectrum disorders: Journal of
Autism and Developmental Disorders, 40, 1241-1246.
Mandell, D., Walrath, C., Manteuffel, B., Sgro, G., & Pinto-Martin, J. (2005).
The prevalence
and eoueiaes of uke among childten with autism served in comprehensive
community-based mental health settings. Child Abuse and Neglect, 29, 1359-1372.
Mannion, A. & Leader, G. (2014). Sleep problems in autism spectrum disorder: A literature
review. Review Journal of Autism and Developmental Disorders, 1, 101-109.
Marcus, A., Sinnott, B., Bradley, S., & Grey, I. (2010). Treatment of idiopathic toe-walking
in children with autism using GaitSpot auditory speakers and simplified habit reversal.
Research in Autism Spectrum Disorders, 4, 260-267.
Masi, A., Lampit, A., Glozier, N., Hickie, I., & Guastella, A. (2015). Predictors of placebo
response in pharmacological and dietary supplement treatment trials in pediatric autism
spectrum disorder: A meta-analysis. Translational Psychiatry, 5, e640.
Matson, J., Adams, H., Williams, L., & Rieske, R. D. (2013). Why are there so many unsub-
stantiated treatments in autism? Research in Autism Spectrum Disorders, 7, 466-474.
Matson, J. & Neal, D. (2009). Seizures and epilepsy and their relation to autism spectrum
disorders. Research in Autism Spectrum Disorders, 3, 999-105.
Matson, J., Sipes, M., Fodstad, J., & Fitzgerald, M. (2011). Issues in the management of chal-
lenging behaviours of adults with autism spectrum disorder. CNS Drugs, 25, 597-606.
Mavranezouli, I., Megnin-Viggars, O., Cheema, N. .... Pilling, S. (2013). The cost-
effectiveness of supported employment for adults with autism in the United Kingdom.
Autism,18,975-984.
Maximo, J., Cadena, E., & Kana, R. (2014). The implications of brain connectivity in the
neuropsychology of autism. Neuropsychology Review, 24, 16-31.
Mayerson, G. (2014). Autism in the courtroom. In F. Volkmar, S. Rogers, R. Paul &
K. Pelphrey (Eds.), Handbook of Autism and Pervasive Developmental Disorders (Vol. 2,
Ath edn) (pp. 1036-1050). Hoboken, NJ: Wiley & Sons.
Mayes, S. & Calhoun, S. (2003). Analysis of WISC-III, Stanford-Binet:4, and academic
achievement test scores in children with autism. Journal of Autism and Developmental
Disorders, 33, 329-341.
Mayes, S., Calhoun, S., Mayes, R., & Molitoris, S. (2012). Autism and ADHD. Research in
Autism Spectrum Disorders, 6, 277-285.
Mayes, S., Calhoun, S., Murray, M., .... Tierney, C. (2014). Final DSM-5 under-identifies
mild autism spectrum disorder: Agreement between the DSM-5, CARS, CASD, and
clinical diagnoses. Research in Autism Spectrum Disorders, 8, 68-73.
Mayes, S., Calhoun, S., Murray, M., & Zahid, J. (2011). Variables associated with anxiety and
depression in children with autism. Journal of Developmental and Physical Disabilities,
23, 325-337.
Mayes, S., Gorman, A., Hillwig-Garcia, J., & Syed, E. (2013). Research in Autism Spectrum
Disorders, 7, 109-119.
Mazza, M., Pino, M., Mariano, M. .... Valenti, M. (2014). Affective and cognitive empathy
in adolescents with autism spectrum disorder. Frontiers in Human Neuroscience, 8, 791.
Mazzone, L., Posterino, V., Valeri, G., & Vicari, S. (2014). Catatonia in patients with autism.
CNS Drugs, 28, 205-215.
Mazzone, L., Ruta, L., & Reale, L. (2012). Psychiatric comorbidities in Asperger syndrome
and high-functioning autism. Annals of General Psychiatry, 11, 16.
McClimens, A., Brennan, S., & Hargreaves, P. (2015). Hearing problems in the learning
disability population: Is anybody listening? British Journal of Learning Disabilities, 43,
153-160.

328
 References

McClure, I. (2014). Developing and implementing practice guidelines. In F. Volkmar,

S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook ofAutism and Pervasive Developmental
Disorders (Vol. 2, 4th edn) (pp. 1014-1035). Hoboken, NJ: Wiley & Sons.
McDougle, C., Landino, S., Vahabzadeh, A. .... Carlezon, W. (2015). Toward an immune-
mediated subtype of autism spectrum disorder. Brain Research, 1617, 72-92.
McGee, G., Daly, T., & Jacobs, H. (1994). The Walden preschool. In S. L. Harris &
J. S. Handleman (Eds.), Preschool Education Programs for Children with Autism
(pp. 127-162). Austin, TX: PRO-ED.
McGee, G., Morrier, M., & Daly, T. (1999). An incidental teaching approach to early inter-
vention for toddlers with autism. Research and Practice for Persons with Severe Disabilities,
24, 133-146.
McGill, P., Tennyson, A., & Cooper, V. (2006). Parents whose children with learning disa-
bilities and challenging behaviour attend 52-week residential schools: Their perception
of services received and expectations for the future. British Journal of Social Work, 36,
597-616.
McGovern, C. & Sigman, M. (2005). Continuity and change from early childhood to
adolescence in autism. Journal of Child Psychology and Psychiatry, 46, 401-408.
McKeague, I., Brown, A., Bao, Y. .... Sourander, A. (2015). Autism with intellectual disa-
bility related to dynamics of head circumference growth during early infancy. Biological
Psychiatry, 77, 833-840.
McPartland, J. & Jeste, S. (2015). Connectivity in context: Emphasizing neurodevelopment
in autism spectrum disorder. Biological Psychiatry, 77, 772-774.
Mehzabin, P. & Stokes, M. (2011). Self-assessed sexuality in young adults with high-
functioning autism. Research in Autism Spectrum Disorders, 5, 614-621.
Meltzer, H., Gatward, R., Corbin, T., Goodman, R., & Ford, T. (2003). The mental health
of young people looked after by local authorities in England. London: Office for National
Statistics.
Melville, C., Cooper, S.-A., Morrison, J. .... Mantry, D. (2008). The prevalence and inci-
dence of mental ill-health in adults with autism and intellectual disabilities. Journal of
Autism and Developmental Disorders, 38, 1676-1688.
Menon, V. & Uddin, L. (2010). Saliency, switching, attention and control. Brain Structure
and Function, 214, 655-667.
Mercer, J. (2013). Holding therapy: A harmful mental health intervention. Focus on
Alternative and Complementary Therapies, 18, 70-76.
Mercer, J. (2015). Examining DIR®/Floortime™as a treatment for children with autism
spectrum disorders. Research on Social Work Practice, 1-11. doi:1049731515583062.
Mesiboy, G. & Handlan, S. (1997). Adolescents and adults with autism. In D. Cohen &
F. Volkmar (Eds.), Handbook of Autism and Pervasive Developmental Disorders
(2nd edn) (pp. 309-322). New York: John Wiley.
Mesibov, G., Schopler, E., & Shea, V. (2004). The TEACCH Approach to Autism Spectrum
Disorders. New York: Springer.
Meyer, J. & Hobson, R. P. (2004). Orientation to self and other: The case of autism.
Interaction Studies, 5, 221-244.
Miles, J. (2011). Autism spectrum disorders — A genetics review. Genetic Medicine, 13, 278-294.
Miller, L. (1999). The savant syndrome. Psychological Bulletin, 125, 31-46.
Milne, E., Swettenham, J., & Campbell, R. (2005). Motion perception and autistic spec-
trum disorder:A review. Current Psychology of Cognition, 23, 3-36.
Mirenda, P. (2014). Augmentative and alternative communication. In F. Volkmar, S. Rogers,
R. Paul & K. Pelphrey (Eds.), Handbook of Autism and Pervasive Developmental Disorders
(Vol. 2, 4th edn) (pp. 813-825). Hoboken, NJ: Wiley & Sons.
References

Modahl, C., Fein, D., Waterhouse, L., & Newton, N. (1992). Does oxytocin deficit
mediate social deficits in autism? Journal of Autism and Developmental Disorders,
22, 449-451. ;
Molteni, P., Guldberg, K., & Logan, N. (2013). Autism and multidisciplinary teamwork
through the SCERTS model. British Journal of Special Education, 40, 137-145.
Montes, G. & Halterman, J. (2007). Psychological functioning and coping among mothers
of children with autism. Pediatrics, 119, e1040-e1046.
Moore, D. J. (2014). Acute pain experience in individuals with autism spectrum disorders:
A review. Autism, 1362361314527839.
Moss, P., Howlin, P., Savage, S., Bolton, P., & Rutter, M. (2015). Self and informant reports
of mental health difficulties amongst adults with autism. Autism, 19, 832-841.
Mostofsky, S. & Ewen, J. (2011). Altered connectivity and action model formation in autism
is autism. The Neuroscientist, 17, 437-448.
Mottron, L. & Belleville, S. (1993). A study of perceptual analysis in a high-level autistic
subject with exceptional graphic abilities. Brain and Cognition, 23, 279-309.
Mottron, L., Bouvet, L., Bonnel, A. .... Heaton, P. (2013). Veridical mapping in the devel-
opment of exceptional autistic abilities. Neuroscience and Biobehavioral Reviews, 37,
209-228.
Mottron, L. & Burack, J. (2001). Enhanced perceptual functioning in the development of
autism. In J. Burack, T. Charman, N. Yirmiya & P. R. Zelazo (Eds.), The Development of
Autism: Perspectives From Theory and Research (pp. 131-148). Hove: Lawrence Erlbaum
Associates.
Mottron, L., Dawson, M., & Souliéres, I. (2009). Enhanced perception in savant syndrome.
Philosophical Transactions of the Royal Society, 364, 1385-1391.
Mottron, L., Dawson, M., Souliéres, I., Hubert, B., & Burack, J. (2006). Enhanced percep-
tual functioning in autism: An update, and eight principles of autistic perception. Journal
ofAutism and Developmental Disorders, 36, 27-43.
Mottron, L., Peretz, I., Belleville, S., & Rouleau, N. (1999). Absolute pitch in autism: A case
study. Neurocase, 5, 485-502.
Mouridsen, S. (2013). Mortality and factors associated with death in autism spectrum
disorders. American Journal of Autism, 1, 17-25.
Mukaetova, E. & Perry, E. (2015). Molecular basis for cholinergic changes in autism
spectrum disorders. In S. Fatemi & S. Hossein (Eds), The Molecular Basis of Autism
(pp. 307-335). New York: Springer.
Mulloy, A., Lang, R., O’Reilly, M. .... Rispoli, M. (2010). Gluten-free and casein-free diets
in the treatment of autism spectrum disorders: A systematic review. Research in Autism
Spectrum Disorders, 4, 328-339.
Mundy, P. (1995). Joint attention and socio-emotional approach behaviour in children with
autism. Development and Psychopathology, 7, 63-82.
Mundy, P. (2003). The neural basis of social impairments in autism: The role of the dorsal
medial-frontal cortex and anterior cingulate system. Journal of Child Psychology and
Psychiatry, 44, 793-809.
Murphy, D. & McMorrow, K. (2015). View of autism spectrum conditions held by staff
working within a high-security psychiatric hospital. Journal of Forensic Practice, 17,
231-240.
Murray, D., Lesser, M., & Lawson, W. (2005). Attention, monotropism and the diagnostic
criteria for autism. Autism, 9, 139-156.
Nation, K., Clarke, P., Wright, B., & Williams, C. (2006). Patterns of reading ability in chil-
dren with autism spectrum disorder. Journal of Autism and Developmental Disorders, 36,
911-919.

330
 References

National Research Council (US) (2001). Educating Children with Autism. Washington, DC:
National Academies Press.
Nemeth, D., Janacsek, K., Balogh, V. .... Vetro, A. (2010). Learning in autism: Implicitly
superb. PloS One, 5, e11731.
Newson, E. (1984). The social development of the young autistic child. Paper presented at
the National Autistic Society Conference, Bath, UK.
Nguyen, M., Roth, A., Kyzar, E. .... Kalueff, A. (2014). Decoding the contribution of dopa-
minergic genes and pathways to autism spectrum disorder. Neurochemistry International,
66, 15-26.
NICE (National Institute for Clinical Excellence) (2013). The management and support
of children and young people on the autism spectrum. http://publications.nice.org.uk/
autism-cg1 70.
Nicholas, D. & Kilmer, C. (2015). Autism spectrum disorder and the family: Examining
impacts and the need for support. In Clinician’s Manual on Autism Spectrum Disorder
(pp. 77-85). New York: Springer.
Nirje, B. (1969). The normalization principle and its human management implications.
In R. Kugel & W. Wolfensberger (Eds.), Changing Patterns in Residential Services for the
Mentally Retarded (pp. 179-195). Washington, DC: President’s Commission on Mental
Retardation.
O’Neill, M. & Jones, R. (1997). Sensory-perceptual abnormalities in autism: A case for
more research? Journal of Autism and Developmental Disorders, 27, 283-293.
Oberman, L. & Ramachandran, V. (2007). The simulating social mind: The role of the
mirror neuron system and simulation in the social and communicative deficits of autism
spectrum disorders. Psychological Bulletin, 133, 310-327.
Oberman, L., Rotenberg, A., & Pascual-Leone, A. (2015). Use of transcranial magnetic stim-
ulation in autism spectrum disorders. Journal ofAutism and Developmental Disorders, 45,
524-536.
Oblak, A., Gibbs, T., & Blatt, G. (2013). Reduced serotonin receptor subtypes in a limbic
and neocortical region in autism. Autism Research, 6, 571-583.
Ohan, J., Ellefson, S., & Corrigan, P. (2015). The impact of changing DSM-IV ‘Asperger’s’
to DSM-5 ‘Autistic Spectrum Disorder’ on stigma and treatment attitudes. Journal of
Autism and Developmental Disorders, 45, 3384-3389.
Oliveras-Rentas, R., Kenworthy, L., Roberson III, R., Martin, A., & Wallace, G. (2012).
WISC-IV profile in high-functioning autism spectrum disorders: Impaired processing
speed is associated with increased autism communication symptoms and decreased
adaptive communication abilities. Journal of Autism and Developmental Disorders, 42,
655-664.
Oller, D., Niyogi, P., Gray, S. .... Warren, S. (2010). Automated vocal analysis of natural-
istic recordings from children with autism, language delay, and typical development.
Proceedings of the National Academy of Sciences, 107, 13354-13359.
Onishi, K. & Baillargeon, R. (2005). Do 15-month-old infants understand false beliefs?
Science, 308, 255-258.
Oppenheim, D., Koren-Karie, N., Dolev, S., & Yirmiya, N. (2009). Maternal insightfulness
and resolution of the diagnosis are associated with secure attachment in preschoolers
with autism spectrum disorders. Child Development, 80, 519-527.
Opris, I. & Casanova, M. (2014). Prefrontal cortical minicolumn. Brain, 137, 1863-1875.
Orekhova, E. V. & Stroganova, T. A. (2014). Arousal and attention re-orienting in autism
spectrum disorders: Evidence from auditory event-related potentials. Frontiers in Human
Neuroscience, 8, 34 ff.

331
References

Orinstein, A., Helt, M., Troyb, E. .... Fein, D. (2014). Intervention history of children with
high-functioning autism and optimal outcomes. Journal of Developmental Behavioural
Pediatrics, 35, 247-256. 3
Ornitz, E. & Ritvo, E. (1968). Neurophysiologic mechanisms underlying perceptual
inconstancy in autistic and schizophrenic children. Archives of General Psychiatry,
19, 76-98.
Ornitz, E. M. (1976). The modulation of sensory input and motor output in autistic
children. In E. Schopler & R. Reichler (Eds.), Psychopathology and Child Development
(pp. 115-133). New York: Springer.
Orsmond, G., Krauss, M., & Seltzer, M. (2004). Peer relationships and social and recreational
activities among adolescents and adults with autism. Journal ofAutism and Developmental
Disorders, 34, 245-257.
Ozonoff, S., Iosif, A.-M., Young, G. .... Rogers, S. (2011). Onset patterns in autism. Journal
of the American Academy of Child and Adolescent Psychiatry, 50, 796-806.
Ozonoff S., Strayer, D., McMahon, W., & Filloux, F. (1994). Executive function abilities in
autism and Tourette’s syndrome. Journal of Child Psychology and Psychiatry, 35, 1015-1032.
Page, J. & Boucher, J. (1998). Motor impairments in children with autistic disorder. Child
Language, Teaching, and Therapy, 14, 233-259.
Parish, S., Thomas, K., Rose, R., Kilany, M., & Shattuck, P. (2012). State Medicaid spend-
ing and financial burden of families raising children with autism. Intellectual and
Developmental Disabilities, 50, 441-451.
Parish, S., Thomas, K., Williams, C., & Crossman, M. (2015). Autism and families’ financial
burden. American Journal on Intellectual and Developmental Disabilities, 120, 166-175.
Parish-Morris, J., Hennon, E., Hirsch-Pasek, K., Golinkoff, R., & Tager-Flusberg, H. (2007).
Children with autism illuminate the role of social intention in word learning. Child
Development, 78, 1265-1287.
Park, C. C. (2001). Exiting Nirvana: A Daughter's Life with Autism. Boston, MA: Little,
Brown & Co.
Pellicano, E. (2007). Links between theory of mind and executive function in young chil-
dren with autism: Clues to developmental primacy. Developmental Psychology, 43, 974.
Pellicano, E. (2010). Individual differences in executive function and central coherence
predict developmental changes in theory of mind in autism. Developmental Psychology,
46, 530-544,
Pellicano, E. (2012a). The development of executive function in autism. Autism Research
and Treatment (Special Issue: Autism: Cognitive Control Across the Lifespan). Article
ID 146132.
Pellicano, E. (2012b). Beyond weak central coherence. In J. Burack, J. Enns & N. Fox (Eds.),
Cognitive Science, Development, and Psychopathology (pp. 153-187). Oxford: Oxford
University Press.
Pellicano, E. (2012c). Do autistic symptoms persist across time? American Journal on
Intellectual and Developmental Disabilities, 117, 156-166.
Pellicano, E. & Burr, D. (2012). When the world becomes ‘too real’: A Bayesian explanation
of autistic perception. Trends in Cognitive Sciences, 16, 504-510.
Pelphrey, K., Shultz, S., Hudac, C., & Vander Wyk, B. (2011). The social brain and its devel-
opment in autism spectrum disorder. Journal of Child Psychology and Psychiatry, 52,
631-644.
Peppé, S., Cleland, J., Gibbon, F., O'Hare, A., & Castilla, P. (2011). Expressive prosody in
children with autism spectrum conditions. Journal of Neurolinguistics, 24, 41-53.
Périsse, D., Amiet, C., Consoli, A. .... Cohen, D. (2010). Risk factors of acute behav-
ioural regression in psychiatrically hospitalized adolescents with autism. Journal of the
Canadian Academy of Child and Adolescent Psychiatry, 19, 100-108.
Perkins, M. (2007). Pragmatic Impairment. Cambridge: Cambridge University Press.

332
 References

Perkins, M., Dobbinson, S., Boucher, J., Bol, S., & Bloom, P. (2006). Lexical knowledge and
lexical use in autism. Journal of Autism and Developmental Disorders, 36, 795-805.
Perry, E., Lee, M., Martin-Ruiz, C. .... Wenk, G. (2001). Cholinergic activity in autism.
American Journal of Psychiatry, 158, 1058-1066.
ase & Napolioni, V. (2013). Autism genetics. Behaviour and Brain Research, 251,

Petalas, M., Hastings, R., Nash, S., Reilly, D., & Dowey, A. (2012). The perceptions and
experiences of adolescent siblings who have a brother with autism spectrum disorder.
Journal of Intellectual and Developmental Disability, 37, 303-314.
Pfeiffer, B., Kinnealey, M., Reed, C., & Herzberg, G. (2005). Sensory modulation and affec-
tive disorders in children and adolescents with Asperger’s disorder. American Journal of of
Occupational Therapy, 59, 335-345.
Philip, R., Dauvermann, M., Whalley, H. .... Stanfield, A. (2012). A systematic review and
meta-analysis of the {MRI investigation of autism spectrum disorders. Neuroscience and
Biobehavioral Reviews, 36, 901-942.
Pickles, A., Le Couteur, A., Leadbitter, K., Aldred, C. .... Green, J. (2016). Parent-mediated
social-communication therapy for young children with autism: Long term follow up of
a randomised control trial. The Lancet, October 25.
Pickles, A., Starr, E., Kazak, S., Bolton, P. .... Rutter, M. (2000). Variable expression of
the autism broader phenotype: Findings from extended pedigrees. Journal of Child
Psychology and Psychiatry, 41, 491-502.
Pinker, S. (1994). The Language Instinct. New York: Penguin Press.
Pinker, S. (1997). How the Mind Works. New York: Penguin Press.
Pinney, A. (2005). Disabled Children in Residential Placements. London: Department for
Education and Skills (DfES) Reports.
Plaisted, K., O’Riordan, M., & Baron-Cohen, S. (1998). Enhanced visual search for a con-
junctive target in autism. Journal of Child Psychology and Psychiatry, 39, 777-783.
Plaisted, K., Swettenham, J., & Rees, L. (1999). Children with autism show local prece-
dence in a divided attention task and global precedence in a selective attention task.
Journal of Child Psychology and Psychiatry, 40, 733-742.
Powell, S. & Jordan, R. (1993). Being subjective about autistic thinking and learning to
learn. Educational Psychology, 13, 359-370.
Preece, D. & Jordan, R. (2007). Short breaks services for children with autistic spec-
trum disorders: Factors associated with service use and non-use. Journal of Autism and
Developmental Disorders, 37, 374-385.
Preti, A., Melis, M., Siddi, S. .... Fadda, R. (2014). Oxytocin and autism. Journal of Child and
Adolescent Psychopharmacology, 24, 54-68.
Pring, L. (2005). Autism and Blindness: Research and Reflections. London: Whurr.
Pring, L. (2008). Memory characteristics in individuals with savant skills. In J. Boucher &
D. M. Bowler (Eds.), Memory in Autism (pp. 201-230). Cambridge: Cambridge University
Press.
Prior, M., & Ozonoff, S. (2007). Psychological factors in autism. In F. Volkmar (Ed.), Autism
and Pervasive Developmental Disorders (2nd edn., pp. 69-128). Cambridge: Cambridge
University Press.
Prizant, B., Wetherby, A., Rubin, E., Laurent, A., & Rydell, P. (2006). The SCERTS Model:
A Comprehensive Educational Approach for Children with Autism Spectrum Disorders.
Baltimore, MD: Paul H. Brookes.
Quaak, I., Brouns, M., & Van der Bor, M. (2013). Dynamics of autism spectrum disorders:
How neurotoxic compounds and neurotransmitters interact. International Journal of
Environmental Research and Public Health, 10, 3384-3408.
Rai, D., Lee, B., Dalman, C. .... Magnusson, C. (2013). Parental depression, maternal anti-
depressant use during pregnancy, and risk of autism spectrum disorders. British Medical
Journal, 346, £2059.

333
References

Ramachandran, V. & Oberman, L. (2006). Broken mirrors: A theory of autism. Scientific

American, 295, 62-69.
Rapin, I. (1996). Neurological issues. In I. Rapin (Ed.), Preschool Children with Inadequate
Communication (pp. 98-112). Cambridge: MacKeith Press.
Rapin, I. & Allen, D. (1983). Developmental language disorders: Nosologic considerations.
In U. Kirk (Ed.), Neuropsychology of Language, Reading and Spelling (pp. 155-184). New
York: Academic Press.
Rapin, I. & Dunn, M. (2003). Update on the language disorders of individuals on the
autistic spectrum. Brain and Development, 25, 166-172.
Rapin, I., Dunn, M., Allen, D., Stevens, M., & Fein, D. (2009). Subtypes of language dis-
orders in school-age children with autism. Developmental Neuropsychology, 34, 66-84.
Reichow, B., Barton, E., Boyd, P., & Hume, K. (2012). Early intensive behavioral inter-
vention (EIBI) for young children with autism spectrum disorders. Cochrane Database
Systemic Review, 10.
Renzaglia, A., Karvonen, M., Drasgow, E., & Stoxen, C. (2003). Promoting a lifetime of
inclusion. Focus on Autism and Other Developmental Disabilities, 18, 140-149.
Rhode, M. (2009). Child psychotherapy with children on the autistic spectrum. In
M. Lanyado & A. Horne (Eds.), The Handbook of Child and Adolescent Psychotherapy:
Psychoanalytic Approaches (2nd edn) (pp. 287-299). London: Taylor & Francis.
Richa, S., Fahed, M., Khoury, E., & Mishara, B. (2014). Suicide in autism spectrum disor-
ders. Archives of Suicide Research, 18, 327-339.
Richards, C., Oliver, C., Nelson, L., & Moss, J. (2012). Self-injurious behaviour in indi-
viduals with autism spectrum disorder and intellectual disability. Journal of Intellectual
Disability Research, 56, 476-489.
Richdale, A. & Prior, M. (1992). Urinary cortisol circadian rhythm in a group of high-
functioning children with autism. Journal ofAutism and Developmental Disorders, 22, 433-447.
Riches, N., Loucas, T., Baird, G., Charman, T., & Simonoff, E. (2010). Sentence repetition in
adolescents with specific language impairments and autism: An investigation of complex
syntax. International Journal of Language and Communication Disorders, 45, 47-60.
Richler, J., Huerta, M., Bishop, S., & Lord, C. (2010). Developmental trajectories of
restricted and repetitive behaviors and interests in children with autism spectrum disor-
ders. Development and Psychopathology, 22, 55-69.
Ricks, D. & Wing, L. (1975). Language, communication, and the use of symbols in normal
and autistic children. Journal of Autism and Developmental Disorders, 5, 191-221.
Rimland, B. (1964). Infantile Autism. New York: Appleton-Century-Crofts.
Rincover, A. & Ducharme, J. (1987). Variables influencing stimulus overselectivity and ‘tun-
nel vision’ in developmentally delayed children. American Journal of Mental Deficiency,
91, 422-430.
Rinehart, N., Bellgrove, M., Tonge, B. .... Bradshaw, J. (2006). An examination of move-
ment kinematics in young people with high-functioning autism and Asperger's disorder.
Journal of Autism and Developmental Disorders, 36, 757-767.
Risi, S., Lord, C., Gotham, K. .... Pickles, A. (2006). Combining information from multiple
sources in the diagnosis of autistic spectrum disorders. Journal of the American Academy
of Child and Adolescent Psychiatry, 45, 1094-1103.
Ritvo, E. & Freeman, B. (1977). National Society for Autistic Children definition of the
syndrome of autism. Journal of Pediatric Psychology, 2, 146-148.
Ritvo, E., Freeman, B., & Scheibel, A. (1986). Lower Purkinje cell counts in the cerebella
of four autistic subjects: Initial findings of the UCLA-NSAC autopsy research report.
American Journal of Psychiatry, 143, 862-866.
Roberts, A., Koenen, K., Lyall, K., Ascherio, A., & Weisskopf, M. (2014). Women’s post-
traumatic stress symptoms and autism spectrum disorder in their children. Research in
Autism Spectrum Disorders, 8, 608-616.

334
 References

Roberts, A., Lyall, K., Hart, J. ....Weisskopf, M. (2013). Perinatal air pollutant exposure and
autism spectrum disorder. Nurses’ Health Study II: Environmental Health Perspectives,
121, 978-984.
Robins, D., Casagrande, K., Barton, M., & Fein, D. (2014). Validation of the Modified
Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Pediatrics,
133, 37-45.
Robins, D., Fein, D., Barton, M., & Green, J. (2001). The Modified Checklist for Autism in
Toddlers. Journal ofAutism and Developmental Disorders, 31, 131-144.
Robinson, S. (2011). Teaching paraprofessionals of students with autism to implement
pivotal response treatment in inclusive school settings using a brief video feed-
back training package. Focus on Autism and Other Developmental Disabilities, 26,
105-118.
Rodgers, J., Glod, M., Connolly, B., & McConachie, H. (2012). The relationship between
anxiety and repetitive behaviours in autism spectrum disorder. Journal of Autism and
Developmental Disorders, 42, 2494-2509.
Rojas, D., Singel, D., Steinmetz, S., Hepburn, S., & Brown, M. (2014). Decreased left perisyl-
vian GABA concentration in children with autism and unaffected siblings. Neurolmage,
86, 28-34.
Ronald, A. & Hoekstra, R. (2011). Autism spectrum disorders and autistic traits: A decade
of new twin studies. American Journal of Medical Genetics, 156, 255-274.
Rosenhall, U., Nordin, V., Sandstroem, M., Ahlsen, G., & Gillberg, C. (1999). Autism and
hearing loss. Journal ofAutism and Developmental Disorders, 29, 349-357.
Rubenstein, J. & Merzenich, M. (2003). Model of autism: Increased ratio of excitation/
inhibition in key neural systems. Genes, Brain and Behavior, 2, 255-267.
Ruggeri, B., Sarkans, U., Schumann, G., & Persico, A. (2014). Biomarkers in autism spec-
trum disorder: The old and the new. Psychopharmacology, 231, 1201-1216.
Rumsey, J. (1985). Conceptual problem-solving in highly verbal, nonretarded autistic men.
Journal of Autism and Developmental Disorders, 15, 23-36.
Russell, J., Mauthner, N., Sharpe, S., & Tidswell, T. (1991). The ‘Windows task’ as a test of
strategic deception in preschoolers and autistic subjects. British Journal of Developmental
Psychology, 9, 101-119.
Russo, N., Flanagan, T., Iarocci, G. .... Burack, J. (2007). Deconstructing executive defi-
cits among persons with autism: Implications for cognitive neuroscience. Brain and
Cognition, 65, 77-86.
Ruta, L., Mugno, D., D’ Arrigo, D., Vitiello, B., & Mazzone, L. (2010). Obsessive-compulsive
traits in children and adolescents with Asperger syndrome. European Journal of Child
and Adolescent Psychiatry, 19, 17-24.
Rutgers, A., Bakermans-Kranenburg, M., Ijzendoom, M., & Berckelaer-Onnes, I. (2004).
Autism and attachment: A meta-analytic review. Journal of Child Psychology and
Psychiatry, 45, 1123-1134.
Rutter, M. (1968). Concepts of autism: A review of research. Journal of Psychology and
Psychiatry, 9, 1-25.
Rutter, M., Bailey, A. & Lord, C. (2003). The Social Communication Questionnaire. Torrance,
CA: Western Psychological Services.
Rutter, M., Bartak, L., & Newman, S. (1971). Autism — a central disorder of cognition and
language. In M. Rutter (Ed.), Infantile Autism: Concepts, Characteristics and Treatment
(pp. 148-171). London: Churchill-Livingstone.
Rutter, M., Greenfield, D., & Lockyer, L. (1967). A five to fifteen year follow-up study of
infantile psychosis: II. Social and behavioural outcome. British Journal of Psychiatry, 113,
1183-1200.
Rutter, M., Le Couteur, A., & Lord, C. (2003). Autism Diagnostic Interview—Revised. Los
Angeles, CA: Western Psychological Services.

335
References

Rutter, M. & Thapar, A. (2014). Genetics of autism spectrum disorders. In F. Volkmar, S.

Rogers, R. Paul & K. Pelphrey (Eds.), Handbook of Autism and Pervasive Developmental
Disorders (Vol. 2, 4th edn) (pp. 411-423). Hoboken, NJ: Wiley & Sons.
Sacks, O. (1995). An Anthropologist on Mars. London: Picador.
Sakamoto, A., Moriuchi, H., Matsuzaki, J, Motoyama, A., & Moriuchi, H. (2015).
Retrospective diagnosis of cytomegalovirus infection in children with autism. Brain
Development, 37, 200-205. :
Santosh, P., Mandy, W., Puura, K., & Skuse, D. (2009). The construction and validation of
a short form of the Developmental, Diagnostic and Dimensional Interview. European
Child and Adolescent Psychiatry, 18, 521-524.
Scattone, D. & Billhofer, B. (2008). Teaching sign language to a nonvocal child with autism.
The Journal of Speech and Language Pathology—Applied Behavior Analysis, 3, 78.
Scheuffgen, K., Happé, EF, Anderson, M., & Frith, U. (2000). High ‘intelligence’, low
‘IQ’? Speed of processing and measured IQ in children with autism. Development and
Psychopathology, 12, 83-90.
Schneider, D., Slaughter, D., Bayliss, A., & Dux, P. (2013). A temporally sustained implicit
theory of mind deficit in autism spectrum disorder. Cognition, 2, 410-417.
Schoen, S., Miller, L., Brett-Green, B., & Nielsen, D. (2009). Physiological and behavioral
differences in sensory processing: A comparison of children with autism spectrum disor-
der and sensory modulation disorder. Frontiers in Integrative Neuroscience, 3, 29.
Schopler, E., Reichler, R., & Renner, B. (2002). The Childhood Autism Rating Scale (CARS).
Los Angeles, CA: Western Psychological Services.
Schuh, J. & Eigsti, I. (2012). Working memory, language skills, and autism symptomatology.
Behavioral Sciences, 2, 207-218.
Scott, F. & Baron-Cohen, S. (1996). Imagining real and unreal things: Evidence of a dissoci-
ation in autism. Journal of Cognitive Neuroscience, 8, 371-382.
Scott, F., Baron-Cohen, S., & Leslie, A. (1999). If pigs could fly: A test of counterfactual rea-
soning and pretence in children with autism. British Journal of Developmental Psychology,
[0-202
Scott, J., Duhig, M., Hamlyn, J., & Norman, R. (2013). Environmental contributions to
autism. Journal of Environmental Immunology and Toxicology, 1, 75-79.
Seal, B. & Bonvillian, J. (1997). Sign language and motor functioning in students with autis-
tic disorder. Journal of Autism and Developmental Disorders, 27, 437-466.
Sebat, J., Lakshmi, B., Malhotra, D. .... Wigler, M. (2007). Strong associations with copy
number mutations with autism. Science, 316, 445-449.
Selimoglu, O., Ozdemir, S., Toret, G., & Ozkubat, U. (2013). An examination of the views
of parents of children with autism about their experiences at the post-diagnosis period.
International Journal of Early Childhood Special Education, 5, 129-167.
Seltzer, M., Krauss, M., Shattuck, P. .... Lord, C. (2003). The symptoms of autism
spectrum disorders in adolescence and adulthood. Journal of Autism and Developmental
Disorders, 33, 565-582.
Senju, A., Southgate, V., White, S., & Frith, U. (2009). Mindblind eyes: An absence of spon-
taneous theory of mind in Asperger syndrome. Science, 325, 883-885.
Shah, A. & Frith, U. (1983). An islet of ability in autistic children. Journal of Child Psychology
and Psychiatry, 24, 613-620.
Sharpe, D. & Baker, D. (2007). Financial issues associated with having a child with autism.
Journal of Family and Economic Issues, 28, 247-264.
Shattuck, P., Narendorf, S. C., Cooper, B. .... Taylor, J. L. (2012). Postsecondary educa-
tion and employment among youth with an autism spectrum disorder. Pediatrics, 6,
1042-1049.
Shavelle, R., Strauss, D., & Pickett, J. (2001). Causes of death in autism. Journal of Autism
and Developmental Disorders, 31, 569-576.

336
 References

Shelton, J., Geraghty, E., Tancredi, D. .... Hertz-Picciotto, I. (2014). Neurodevelopmental

disorders and prenatal residential proximity to agricultural pesticides. Environmental
Health Perspectives (Online), 122, 1103.
Shetreat-Klein, M., Shinnar, S., & Rapin, I. (2014). Abnormalities of joint mobility and gait
in children with autism spectrum disorders. Brain and Development, 36, 91-96.
Shields, J. (2001). The NAS EarlyBird Programme: Partnership with parents in early
intervention. Autism, 5, 49-56.
Shoffner, J., Hyams, L., Langley, G. N. .... Hyland, K. (2010). Fever plus mitochrondrial dis-
ease could be risk factors for autistic regression. Journal of Child Neurology, 25, 429-434.
Shriberg, L., Paul, R., MacSweeny, J., Klin, A., & Cohen, D. (2001). Speech and prosody
characteristics of adolescents and adults with high-functioning autism and Asperger
syndrome. Journal of Speech, Language, and Hearing Research, 44, 1097-1115.
Shtayermman, O. (2008). Suicidal ideation and comorbid disorders in adolescents and
young adults diagnosed with Asperger’s syndrome. Journal of Human Behaviour in the
Social Environment, 18, 301-328.
Shulman, C. & Guberman, A. (2007). Acquisition of verb meaning through syntactic cues.
Journal of Child Language, 34, 411-423.
Shute, N. (2010). Desperate for an autism cure. Scientific American, 303, 80-85.
Siegel, D., Minshew, N., & Goldstein, G. (1996). Wechsler IQ profiles in diagnosis of high
functioning autism. Journal of Autism and Developmental Disorders, 26, 389-407.
Sigman, M. & Capps, L. (1997). Children with Autism: A Developmental Perspective.
Cambridge, MA: Harvard University Press.
Sigman, M., Dijamco, A., Gratier, M., & Rozga, A. (2004). Early detection of core deficits in
autism. Mental Retardation and Developmental Disabilities Research Reviews, 10, 221-233.
Silberman, S. (2015). Neurotribes. London: Allen & Unwin.
Siller, M. & Sigman, M. (2008). Modeling longitudinal change in the language abilities of
children with autism: Parent behaviors and child characteristics as predictors of change.
Developmental Psychology, 44, 1691.
Silverman, L., Bennetto, L., Campana, E., & Tanenhaus, M. (2010). Speech-and-gesture
integration in high functioning autism. Cognition, 115, 380-393.
Simmons, D., McKay, L., McAleer, P. .... Pollick, F. (2007). Neural noise and autism spec-
trum disorders. Perception, 36, 119-120.
Simonoff, E., Pickles, A., Charman, T. .... Baird, G. (2008). Psychiatric disorders in children
with autism spectrum disorders. Journal of the American Academy of Child and Adolescent
Psychiatry, 47, 921-929.
Sinha, Y., Silove, N., Hayen, A., & Williams, K. (2011). Auditory integration training and other
sound therapies for autism spectrum disorders. Cochrane Database Systemic Review, 12.
Skuse, D. (2011). The extraordinary political world of autism. Brain, awr1 11.
Skuse, D. (2013). Developmental, Dimensional and Diagnostic Interview. Encyclopedia of
Autism Spectrum Disorders, 1-7.
The Developmental, Dimensional
Skuse, D., Warrington, R., Bishop, D. .... Place, M. (2004).
and Diagnostic Interview (3di): A novel computerized assessment for autism spec-
trum disorders. Journal of the American Academy of Child and Adolescent Psychiatry, 43,
548-558.
Slater- Walker, G. & Slater-Walker, C. (2002). An Asperger Marriage. London: Jessica Kingsley.
Smart, M. (2004). Transition planning and the needs of young people and their carers.
British Journal of Special Education, 31, 128-137.
Smith, M., Fulcher, L., & Doran, P. (2013). Residential Child Care in Practice: Making a
Difference. Bristol: Policy Press.
Smith, T., Scahill, L., Dawson, G. .... Wagner, A. (2007). Designing research studies on
psychosocial intervention in autism. Journal of Autism and Developmental Disorders, 37,
354-366.

337
References

Snyder, A. (2010). Explaining and inducing savant skills: Privileged access to lower-level,
less-processed information. In F. Happé & U. Frith (Eds.), Autism and Talent (pp. 75-88).
Oxford: Oxford University Press. -
Souders, M., Mason, T., Valladares, O. .... Pinto-Martin, J. (2009). Sleep behaviours and
sleep quality in children with autism spectrum disorders. SLEEP, 32, 1566-1578.
Souliéres, I., Hubert, B., Rouleau, N. .... Mottron, L. (2010). Superior estimation abilities in
two autistic children. Cognitive Neuropsychology, 27, 261-276. '
Sowden, H., Clegg, J., & Perkins, M. (2013). The development of co-speech gesture in
the communication of children with autism spectrum disorders. Clinical Linguistics and
Phonetics, 27, 922-939.
Sparrow, S. & Davis, S. M. (2000). Recent advances in the assessment of intelligence and
cognition. Journal of Child Psychology and Psychiatry, 41, 117-132.
Spencer, L., Lyketsos, C., Samstad, E., & Chisolm, M. (2011). A suicidal adult in crisis: An
unexpected diagnosis of autism spectrum disorder. American Journal of Psychiatry, 168,
890-892.
Spezio, M., Adolphs, R., Hurley, R., & Piven, J. (2007). Abnormal use of facial information
in high-functioning autism. Journal ofAutism and Developmental Disorders, 37, 929-939.
Spiker, D. & Ricks, M. (1984). Visual self-recognition in autistic children: Developmental
relationships. Child Development, 55, 214-225.
Spiker, M., Lin, C., Van Dyke, M., & Wood, J. (2011). Restricted interests and anxiety in
children with autism. Autism, 16, 306-320.
Spratt, E., Nicholas, J., Brady, K. .... Charles, M. (2011). Enhanced cortisol response to stress
in children with autism. Journal of Autism and Developmental Disorders, 42, 75-81.
Stahmer, A., Akshoomoff, N., & Cunningham, A. (2011). Inclusion for toddlers with autism
spectrum disorders: The first ten years of a community program. Autism, 15, 625-641.
Stahmer, A. & Ingersoll, B. (2004). Inclusive programming for toddlers with autism spec-
trum disorders: Outcomes from the children’s toddler school. Journal of Positive Behavior
Interventions, 6, 67-82.
Stahmer, A., Schreibman, L., & Cunningham, A. (2011). Toward a technology of treatment
individualization for young children with autism spectrum disorders. Brain Research,
1380, 229-239.
Stahmer, A., Suhrheinrich, J., Reed, S., Bolduc, C., & Schreibman, L. (2010). Pivotal Response
Teaching in the classroom setting. Preventing School Failure: Alternative Education for
Children and Youth, 54, 265-274.
Stahmer, A., Suhrheinrich, J., Reed, S., & Schreibman, L. (2012). What works for you?
Using teacher feedback to inform adaptations of pivotal response training for classroom
use. Autism Research and Treatment, 2012. Article ID 709861.
Stamou, M., Streifel, K., Goines, P., & Lein, P. (2013). Neural connectivity as a convergent
target of gene x environment interactions that confer risk for autism spectrum disorders.
Neurotoxicology and Teratology, 36, 3-16.
Stanford, Ashley (2014). Asperger Syndrome (Autism Spectrum Disorder) and Long-Term
Relationships (2nd edn). London and Philadelphia: Jessica Kingsley Publishers.
Stehli, A. (1992). The Miracle of Silence. London: Doubleday.
Steiner, A., Gengoux, G., Klin, A., & Chawarska, K. (2013). Pivotal response treatment
for infants at-risk for autism spectrum disorders: A pilot study. Journal of Autism and
Developmental Disorders, 43, 91-102.
Sterling-Turner, H. & Jordan, S. (2007). Interventions addressing transition difficulties for
individuals with autism. Psychology in Schools, 44, 681-690.
Stevens, M., Fein, D., Dunn, M. .... Rapin, I. (2000). Subgroups of children with autism by
cluster analysis. Journal of the American Academy of Child and Adolescent Psychiatry, 39,
346-352.

338
 References

Stewart, H., Macintosh, R., & Williams, J. (2013). A specific deficit of imitation in autism
spectrum disorder. Autism Research, 6, 522-530.
Stewart, P., Hyman, S., Schmidt, B. .... Manning-Courtney, P. (2015). Dietary supplemen-
tation in children with autism spectrum disorders: Common, insufficient, and excessive.
Journal of the Academy of Nutrition and Dietetics, 115, 1237-1248.
Stiegler, L. & Davis, R. (2010). Understanding sound sensitivity in individuals with autism
spectrum disorders. Focus On Autism and Other Developmental Disorders, 25, 67-75.
Stoit, A., van Schie, H., Slaats-Willemse, D., & Buitelaar, J. (2013). Grasping motor impair-
ments in autism: Not action planning but movement execution is deficient. Journal of
Autism and Developmental Disorders, 43, 2793-2806.
Stokes, M. & Kaur, A. (2005). High-functioning autism and sexuality. Autism, 9, 266-289.
Strain, P. & Bovey, E. (2008). LEAP preschool. In J. Handleman & S. Harris (Eds.), Preschool
Education Programs for Children with Autism (pp. 249-280). Austin, TX: Pro-Ed.
Strain, P. & Bovey, E. (2011). Randomized, controlled trial of the LEAP model of early inter-
vention for young children with autism spectrum disorders. Topics in Early Childhood
Special Education, 31, 133-154.
Sukhodolsky, D., Bloch, M., Panza, K., & Reichow, B. (2013). Cognitive-behavioral therapy
for anxiety in children with high-functioning autism: A meta-analysis. Pediatrics, 132,
e1341-e1350.
Sullivan, K., Stone, W., & Dawson, G. (2014). Potential neural mechanisms underlying the
effectiveness of early intervention for children with autism spectrum disorder. Research
in Developmental Disabilities, 35, 2921-2932.
Surén, P., Gunnes, N., Roth, C. .... Stoltenberg, C. (2014). Parental obesity and risk of
autism spectrum disorder. Pediatrics, 133, peds-2013.
Surén, P., Roth, C., Bresnahan, M. .... Stoltenberg, C. (2013). Association between maternal
use of folic acid supplements and risk of autism spectrum disorders in children. JAMA,
309, 570-577.
Surian, L., Baron-Cohen, S., & Van der Lely, H. (1996). Are children with autism deaf to
Gricean Maxims? Cognitive Neuropsychiatry, 1, 55-72.
Sussman, F. (1999). More Than Words: Autism Spectrum Disorder. Toronto: Hanen Centre.
Sutera, S., Pandey, J., Esser, E. .... Fein, D. (2007). Predictors of optimal outcome in tod-
dlers diagnosed with autism spectrum disorders. Journal of Autism and Developmental
Disorders, 37, 98-107.
Sztainberg, Y. & Zoghbi, H. Y. (2016). Lessons learned from studying syndromic autism
spectrum disorders. Nature Neuroscience, 19, 1408-1417.
Szymanski, C., Brice, P., Lam, K., & Hotto, S. (2012). Deaf children with autism spectrum
disorders. Journal of Autism and Developmental Disorders, 42, 2027-2037.
Tager-Flusberg, H. (2000). Language and understanding minds: Connections in autism.
In S. Baron-Cohen, H. Tager-Flusberg & D. Cohen (Eds.), Understanding Other Minds:
Perspectives from Developmental Cognitive Neuroscience (3rd edn) (pp. 124-149). Oxford:
Oxford University Press.
Tager-Flusberg, H. (2005). What neurodevelopmental disorders can reveal about cog-
nitive architecture: The example of theory of mind. In P. Carruthers, S. Laurence &
S. Stitch (Eds.), The Innate Mind: Structure and Contents (pp. 272-288). Oxford: Oxford
University Press.
Tager-Flusberg, H. & Joseph, R. (2005). How language facilitates the acquisition of false-
belief understanding in children with autism. In H. Lohmann, M. Tomasello & S. Meyer
(Eds.), Why Language Matters for Theory of Mind (pp. 298-318). New York: Oxford
University Press.
Tajfel, H. (1981). Human Groups and Social Categories. Cambridge: Cambridge University
Press.

339
References

Tang, G., Gudsnuk, K., Kuo, S. .... Yue, Z. (2014). Loss of mTOR-dependent macroauto-
phagy causes autistic-like synaptic pruning deficits. Neuron, 83, 1131-1143.
Tanguay, P. (1984). Towards a new classification of serious psychopathology in children.
Journal of the American Academy of Child Psychiatry, 23, 378-384.
Tarakeshwar, N. & Pargament, K. (2002). Religious coping in families of children with
autism. Focus on Autism and Other Developmental Disabilities, 16, 247-260.
Tavares, P., Mouga, S., Oliviera, G., & Castelo-Branco, M. (2013). Preserved first-order and
holistic face processing in high-functioning adults with autism: An EEG/ERP study.
Perception ECVP Abstract, 42, 81-81.
Taylor, E., Target, L., & Charman, T. (2008). Attachment in adults with high-functioning
autism. Attachment & Human Development, 10, 143-163.
Taylor, J. & Corbett, B. (2014). A review of rhythm and responsiveness of cortisol in individ-
uals with autism spectrum disorders. Psychoneuroendocrinology, 49, 207-228.
Taylor, J. L. & Seltzer, M. (2011). Employment and post-secondary educational activities for
young adults with autism spectrum disorders during the transition to adulthood. Journal
ofAutism and Developmental Disorders, 41, 566-574.
Theije, C. de, Wu, J., Lopez da Silva, S. .... Kraneveld, A. (2011). Pathways underlying the
gut-to-brain connection in autism spectrum disorders. European Journal of Pharmacology,
668, S70-S80.
Thioux, M., Stark, D., Klaimann, C., & Schultz, R. (2006). The day of the week when you
were born in 700 ms: Calendar computation in an autistic savant. Journal of Experimental
Psychology: Human Perception and Performance, 32, 1155-1168.
Tordjman, S., Somogyi, E., Coulon, N., ... & Ginchat, V. (2014). Gene x environment
interactions in autism spectrum disorders: Role of epigenetic mechanisms. Frontiers in
Psychiatry, 5, 53ff.
Treffert, D. & Tammet, D. (2011). Islands of Genius. London: Jessica Kingsley.
Trevarthen, C. & Aitken, K. (2001). Infant intersubjectivity: Research, theory, and clinical
applications. Journal of Child Psychology and Psychiatry, 42, 3-48.
Tsai, L. (2014). Impact of DSM-5 on autism spectrum disorder. Research in Autism Spectrum
Disorders, 8, 1454-1470.
Tsai, L. & Ghaziuddin, M. (2014). DSM-ASD moves forward into the past. Journal of
Autism and Developmental Disorders, 44, 321-330.
Tuchman, R. & Rapin, I. (2002). Epilepsy in autism. The Lancet Neurology, 1, 352-358.
Tulving, E. (1995). Organisation of memory. In M. Gazzaniga (Ed.), The Cognitive
Neurosciences (pp. 839-847). Cambridge, MA: MIT Press.
Turner, M. (1999). Generating novel ideas: Fluency performance in high-functioning and
learning disabled persons with autism. Journal of Child Psychology and Psychiatry, 40,
189-202.
Tustin, F. (1981/1995). Autism and Childhood Psychosis. London: Hogarth Press. (Reprinted
in 1995 and published by Karnac Books.)
Tustin, F. (1991). Revised understanding of psychogenic autism. International Journal of
Psychoanalysis, 72, 585-591.
Tyson, K., Kelley, E., Fein, D. .... Helt, M. (2014). Language and verbal memory in individ-
uals with a history of autism spectrum disorders who have achieved optimal outcomes.
Journal of Autism and Developmental Disorders, 44, 648-663.
Uchiyama, T., Kurosawa, M., & Inaba, Y. (2007). MMR-vaccine and regression in autism
spectrum disorders. Journal of Autism and Developmental Disorders, 37, 210-217.
Uddin, L. (2011). The selfin autism. Neurocase, 17, 201-208.
Uljarevic, M. & Hamilton, A. (2013). Recognition of emotions in autism: A formal
meta-analysis. Journal ofAutism and Developmental Disorders, 43, 1517-1526.
Ullman, M. (2001). The declarative/procedural model of lexicon and grammar. Journal of
Psycholinguistic Research, 30, 37-69.

340
 References

Ullman, M. (2004). Contributions of memory circuits to language: The declarative/proce-

dural model. Cognition, 92, 231-270.
Ullman, M. & Pierpont, E. (2005). Specific language impairment is not specific to language:
The procedural deficit hypothesis. Cortex, 41, 399-433.
Umeda, S., Mimura, M., & Kato, M. (2010). Acquired personality traits of autism following
damage to medial prefrontal cortex. Social Neuroscience, 5, 19-29.
Ung, D., Selles, R., Small, B., & Storch, E. (2015). A systematic review and meta-analysis
of cognitive-behavioral therapy for anxiety in youth with high-functioning autism spec-
trum disorders. Child Psychiatry and Human Development, 46, 533-547.
Van der Meer, J., Oerlemans, A., van Steijn, D. .... Rommelse, N. (2012). Are autism spec-
trum disorder and attention-deficit/hyperactivity disorder different manifestations of
one overarching disorder? Journal of the American Academy of Child and Adolescent
Psychiatry, 51, 1160-1172. .
Van der Meer, L., Sutherland, D., O’Reilly, M., Lancioni, G., & Sigafoos, J. (2012). A fur-
ther comparison of manual signing, picture exchange, and speech-generating devices as
communication modes for children with autism spectrum disorders. Research in Autism
Spectrum Disorders, 6, 1247-1257.
Van Swieten, L., van Bergen, E., Williams, J. H. .... Mon-Williams, M. (2010). A test of
motor (not executive) planning in developmental coordination disorder and autism.
Journal of Experimental Psychology: Human Perception and Performance, 36, 493.
Vanvuchelen, M., Roeyers, H., & De Weerdt, W. (2011). Research in Autism Spectrum
Disorders, 5, 89-95.
Vause, T., Hoekstra, S., & Feldman, M. (2014). Evaluation of individual function-based
cognitive-behavioural therapy for obsessive compulsive behaviour in children with
autism spectrum disorder. Journal of Developmental Disabilities, 20, 30-41.
Virues-Ortega, J., Julio, F, & Pastor-Barriuso, R. (2013). The TEACCH program for chil-
dren and adults with autism: A meta-analysis of intervention studies. Clinical Psychology
Review, 33, 940-953.
Vismara, L. & Lyons, G. (2007). Using perseverative interests to elicit joint attention behaviors
in young children with autism. Journal of Positive Behavior Interventions, 9, 214-228.
Vivanti, G. & Hamilton, A. (2014). Imitation in autism spectrum disorders. In F. Volkmar,
S. Rogers, R. Paul & K. Pelphrey (Eds.), Handbook ofAutism and Pervasive Developmental
Disorders (Vol. 2, 4th edn) (pp. 278-300). Hoboken, NJ: Wiley & Sons.
Vivanti, G., Paynter, J., Duncan, E. .... Victorian ASELCC Team. (2014). Effectiveness and
feasibility of the Early Start Denver Model implemented in a group-based community
childcare setting. Journal of Autism and Developmental Disorders, 44, 3140-3153.
Volden, J. & Lord, C. (1991). Neologisms and idiosyncratic language in autistic speakers.
Journal of Autism and Developmental Disorders, 21, 109-130.
Volkmar, E. & Reichow, B. (2013). Autism in DSM-5: Progress and challenges. Molecular
Autism, 4, 1.
Wakefield, A., Murch, S., Anthony, A. .... Walker-Smith, J. (1998). Ileal-lymphoid-nodular
hyperplasia, non-specific colitis, and pervasive developmental disorder in children. The
Lancet, 351, 637-641.
Walenski, M., Tager-Flusberg, H., & Ullman, M. (2006). Language in autism. In S. Moldin
& J. Rubenstein, J. (Eds.), Understanding Autism: From Basic Neuroscience to Treatment
(pp. 175-203). Boca Raton, FL: CRC Press.
Wallace, G., Dankner, N., Kenworthy, L., Giedd, J., & Martin, A. (2010). Age-related tempo-
ral and parietal cortical thinning in autism spectrum disorders. Brain, 133, 3745-3754.
Wallace, G., Robustella, B., Dankner, N. .... Martin, A. (2013). Increased gyrification but com-
parable surface area in adolescents with autism spectrum disorders. Brain, 136, awt:006.
Waltz, M. & Shattock, P. (2004). Autistic disorder in nineteenth-century London: Three
case reports. Autism, 8, 7-20.

341
References

Wang, Z., Hong, Y., Zou, L. .... Wang, W. (2014). Reelin gene variants and risk of autism
spectrum disorders. American Journal of Medical Genetics Part B: Neuropsychiatric
Genetics, 162, 192-200. ‘
Warren, Z., McPheeters, M., Sathe, N. .... Veenstra-VanderWeele, J. (2011). A systematic
review of early intensive intervention for autism spectrum disorders. Pediatrics, 127,
e1303-e1311. t
Washington, S., Gordon, E., Brar, J. .... VanMeter, J. (2014). Dysmaturation of the default
mode network in autism. Human Brain Mapping, 35, 1284-1296.
Waterhouse, L. (2013). Rethinking Autism: Variation and Complexity. London: Academic
Press.
Watson, L., Crais, E., Baranek, G., Dykstra, J., & Wilson, K. (2013). Communicative gesture
use in infants with and without autism: A retrospective home video study. American
Journal of Speech-Language Pathology, 22, 25-39.
Webb, S., Jones, E., Kelly, J., & Dawson, G. (2014). The motivation for very early interven-
tion for infants at high risk for autism spectrum disorders. International Journal of Speech-
Language Pathology, 16, 36-42.
Wechsler, D. (1999). Wechsler Adult Intelligence Scale (WAIS-III-UK). Oxford: Harcourt
Assessment.
Wechsler, D. (2004). Wechsler Intelligence Scale for Children (WISC-IV-UK). Oxford:
Harcourt Assessment.
Wei, J., Yu, J., Shattuck, P., McCracken, M., & Blackorby, J. (2013). Science, Technology,
Engineering, and Mathematics (STEM) participation among college students with
an autism spectrum disorder. Journal of Autism and Developmental Disorders, 43,
1539-1546.
Weigelt, S., Koldewyn, K., & Kanwisher, N. (2013). Face recognition deficits in autism spec-
trum disorders are both domain specific and process specific. PloS One, 8(9), e74541.
Weiss, M. (2002). Hardiness and social support as predictors of stress in mothers of
typical children, children with autism, and children with mental retardation. Autism,
6, 115-130.
Weitzman, E. (2013). More Than Words—The Hanen Program for parents of children
with autism spectrum disorder: A teaching model for parent-implemented language
Intervention. SIG 1 Perspectives on Language Learning and Education, 20, 96-111.
Werth, A., Perkins, M., & Boucher, J. (2001). ‘Here’s the weavery looming up’: Verbal
humour in a woman with high-functioning autism. Autism, 5, 111-127.
Wetherby, A., Guthrie, W., Woods, J. .... Lord, C. (2014). Parent-implemented social inter-
vention for toddlers with autism: An RCT. Pediatrics, 134, 1084-1093.
Wetherby, A. & Woods, J. (2006). Early social interaction project for children with autism
spectrum disorders beginning in the second year of life: A preliminary study. Topics in
Early Childhood Special Education, 26, 67-82.
Wheelwright, S. & Baron-Cohen, S. (2011). Systemizing and empathizing. In D. Fein (Ed.),
The Neuropsychology of Autism (pp. 317-338). Oxford: Oxford University Press.
White, B. & White, M. (1987). Autism from the inside. Medical Hypotheses, 24, 223-229.
Whitehouse, A., Mattes, E., Mayberry, M. .... Hickey, M. (2012). Perinatal testosterone
exposure and autistic-like traits in the general population. Journal of Neurodevelopmental
Disorders, 4, 1.
Wiggins, J., Peltier, S., Bedoyen, J. .... Monk, C. (2013). The impact of serotonin transporter
genotype on default network connectivity in children and adolescents with autism spec-
trum disorders. NeuroImage: Clinical, 2, 17-24.
Wiggins, L. & Robins, D. (2008). Brief report: Excluding the ADI-R behavioral domain
improves diagnostic agreement in toddlers. Journal of Autism and Developmental
Disorders, 38, 972-976.

342
 References

Wilcox, J., Tsuang, M., Schurr, T., & Baida-Fragoso, N. (2003). Case-control study of lesser
variant traits in autism. Neuropsychobiology, 47, 171-177.
Will, D., Barnfather, J., & Lesley, M. (2013). Self-perceived autism competency of primary
care nurse practitioners. The Journal for Nurse Practitioners, 9, 350-355.
Williams, D. (1994). Somebody Somewhere. London: Doubleday.
Williams, D., Botting, N., & Boucher, J. (2008). Language in autism and specific language
disorder: Where are the links? Psychological Bulletin, 134, 944-963.
Williams, J., Whiten, A., & Singh, T. (2004). A systematic review of action imitation in
autistic spectrum disorder. Journal of Autism and Developmental Disorders, 34, 285-299.
Williams, J., Whiten, A., Suddendorf,T., & Perrett, D. (2001). Imitation, mirror neurons and
autism. Neuroscience and Biobehavioural Reviews, 25, 287-295.
Williams, K. & Wishart, J. (2003). The Son-Rise Program 1 intervention for autism: An
investigation into family experiences. Journal of Intellectual Disability Research, 47,
291-299.
Williams, K., Wray, J., & Wheeler, D. (2012). Intravenous secretin for autism spectrum
disorders. Cochrane Database Systemic Review, 4.
Wimpory, D., Nicholas, B., & Nash, S. (2002). Social timing, clock genes and autism: A new
hypothesis. Journal of Intellectual Disability Research, 46, 352-358.
Windsor, J., Doyle, S., & Siegel, G. (1994). Language acquisition after mutism. Journal of
Speech Language and Hearing Research, 37, 96-105.
Wing, L. (1981). Asperger’s syndrome: A clinical account. Psychological Medicine, 11,
115-129.
Wing, L. (1996). The Autistic Spectrum. London: Constable.
Wing, L. & Gould, J. (1979). Severe impairments of social interaction and associated abnor-
malities in children: Epidemiology and classification. Journal of Autism and Childhood
Schizophrenia, 9, 11-29.
Wing, L., Gould, J., Yeates, S., & Brierly, L. (1977). Symbolic play in severely mentally retarded
and in autistic children. Journal of Child Psychology and Psychiatry, 18, 167-178.
Wing, L., Leekam, S., Libby, S., Gould, J., & Larcombe, M. (2002). The Diagnostic Interview
for Social and Communication Disorders. Journal of Child Psychology and Psychiatry, 43,
307-327.
Wolff, J., Botteron, K., Dager, S. .... Zwaigenbaum, L. (2014). Longitudinal patterns of
repetitive behavior in toddlers with autism. Journal of Child Psychology and Psychiatry,
55, 945-953.
Woodbury-Smith, M., Robinson, J., Wheelwright, S., & Baron-Cohen, S. (2005). Screening
adults for Asperger syndrome using the AQ: A preliminary study of its diagnostic valid-
ity. Journal of Autism and Developmental Disorders, 35, 331-336.
World Health Organisation (1992). International Classification of Mental and Behavioural
Disorders: Clinical Descriptions and Diagnostic Guidelines (10th edn) (ICD-10). Geneva:
WHO.
World Health Organisation (1993). The ICD-10 Classification of Mental and Behavioural
Disorders: Diagnostic Criteria for Research. Geneva: WHO.
Xu, G., Jing, J., Bowers, K., Kiu, B., & Bao, W. (2014). Maternal diabetes and the risk of
autism spectrum disorders in the offspring. Journal of Autism and Developmental
Disorders, 44, 766-775.
Yirmiya, N., Erel, O., Shaked, M., & Solomonica-Levi, D. (1998). Meta-analyses comparing
theory of mind abilities of individuals with autism, individuals with mental retardation,
and normally developing individuals. Psychological Bulletin, 124, 283-307.
Yirmiya, N., Kasari, C., Sigman, M., & Mundy, P. (1989). Facial expressions ofaffect in autis-
tic, mentally retarded and normal children. Journal of Child Psychology and Psychiatry,
30, 725-735.

343
References

Yoshimasu, K., Kiyohara, C., Takemura, S., & Nakai, K. (2014). A meta-analysis of the
evidence on the impact of prenatal and early infancy exposures to mercury on autism
and attention deficit/hyperactivity disorder in childhood. Neurotoxicology, 44, 121-131.
Yoshimura, S. & Toichi, M. (2014). A lack of self-consciousness in Asperger’s disorder but
not in PDDNOS. Research in Autism Spectrum Disorders, 8, 237-243.
Young, G., Merin, N., Rogers, S., & Ozonoff, S. (2009). Gaze behavior and affect at
6 months: Predicting clinical outcomes and language development in typically develop-
ing infants and infants at risk for autism. Developmental Science, 12, 798-814.
Young, L. & Barrett, C. (2015). Can oxytocin treat autism? Science (New York), 347, 825.
Zander, E. & Bolte, S. (2015). The new DSM-5 impairment criterion. A challenge to early
autism spectrum disorder diagnosis? Journal of Autism and Developmental Disorders, 45,
3634-3643.
Zandt, F., Prior, M., & Kyrios, M. (2007). Repetitive behaviour in children with
high-functioning autism and obsessive compulsive disorder. Journal of Autism and
Developmental Disorders, 37, 251-259.
Zentall, S. & Zentall, T. (1983). Optimal stimulation: A model of dishdcted activity in
ian and ae children. Psychological Bulletin, 94, 446-471.
Zerbo, O., Iosif, A.-M., Walker, C. .... Hertz-Picciotto, I. (2013). Is maternal influenza or
fever during pregnancy associated with autism or developmental delays? Journal of
Autism and Developmental Disorders, 43, 25-33.
Zielinski, B., Anderson, J., Froehlich, A. .... Lainhart, J. (2012). scMRI reveals large-scale
brain network abnormalities in autism. PLoS One, 7: e49172.
Zoghbi, H. & Bear, M. (2012). Synaptic dysfunction in neurodevelopmental disorders asso-
ciated with autism and intellectual disability. Cold Spring Harbour Perspectives in Biology,
4: a009886.
Zwaigenbaum, L., Bryson, S., & Garon, N. (2013). Early identification of autism spectrum
disorders. Behavior and Brain Research, 251, 133-146.

344
 INDEX

Note: Page numbers followed by gi refer to terms in the glossary. Page numbers followed by «oy
“n
indicate footnotes and page numbers in italics refer to figures and boxes.

aberrant precision of predictive coding theory, animal models, 107, 127, 131
157-158 anticonvulsants, 231
ability, islets of 46-49, 168-169 antidepressants, 231
absent self theory, 51 antisocial behaviour, 83-84
absolute pitch (AP), 155, 271¢/ anxiety, 65, 66, 161
abuse, 253; see also child protection apoptosis, 125, 272g]
access to services, 253-258 Applied Behaviour Analysis (ABA), 219-220
accidents, 84 apraxia, 50, 272¢l
acetylcholine (A.CH), 122, 123, 132 aripiprazole, 23]
acquired autism, 76, 271gl arousal, 94, 150-151, 272¢l
action-outcome monitoring, 151, 271g/ array comparative genomic hybridization
active but odd group, 28, 29, 77 (aCGH), 107
acupuncture, 232 articulation, 59, 272¢l
adaptive behaviour, 29, 271¢/ articulatory impairment, 60, 178-179
addiction, 83 Asperger, Hans, 4-5, 10, 11, 22
adolescence, 78 Asperger disorder, 9-10, 18, 272¢l
adult outcomes, 78-84 Asperger syndrome (AS), 24-25, 272gl
advocacy, 258, 271gl in diagnostic manuals, 10, 11
affect, 36 lack of boundaries between autistic disorder
affective, 271g] and, 18
affective agnosia, 146, 272¢l over-use of diagnostic label, 18-19
affective empathy, 36, 37, 272gl Asperger’s syndrome, 9, 10
age of onset, 75-76 Aspies, 25, 211, 260
age-equivalent (AE), 56; see also mental age (MA) assessment, 188, 197
akinesia, 167, 272¢l association studies, 107
alexithymia, 36, 37, 51 attachment, 47, 168, 273¢l
algorithm, 200, 272¢l attention, 40, 273gl
Allen, D., 23 attention deficit and hyperactivity disorder
aloof group, 28, 29, 77 (ADHD), 66, 273¢1
alternative and allied healthcare (AAH), 232; attentional abnormalities, 150
see also complementary and alternative atypical autism, 10, 26; see also pervasive
medicines (CAMs) developmental disorders not otherwise
American Psychiatric Association, 8, 15 specified (PDD-NOS)
amodal, 61, 272g Augmentative and Alternative Communication
amygdala, 121, 125, 272gl systems (AACs), 224-226
Index

autism between-gene DNA variants, 109

age of onset, 75-76 biomarker, 198, 274gl
causes, 90-96 blind trials, 217, 274gl
distribution of cases, 74-75 blood samples, 131
early case reports, 4 Bloom, P., 177
early descriptions, 4-8 body schema, 49, 274gl
first official definitions, 8<10 Bolte, S., 26
terminology, 14 bond, 6
Autism and the Development of Mind (Bobson, bonding/bond, 274¢l
1993), 146 borderline treatments, 218
Autism Diagnostic Interview-Revised (ADI-R), evidence-based non-physical, 227-230
199-200 evidence-based physical, 231
Autism Diagnostic Observation Schedule Bovey, E., 223
(ADOS), 200 brain see social brain
autism phenotype, 103 brain chemistry
autism spectrum disorder (ASD) assessment methods, 131
advantages of the spectrum concept, 20-21 autistic brain, 130-134
descriptors, 17 neurotypical brain, 122
diagnostic criteria, 15, 16 brain circuits, 122, 129-130; see also neural
familial, 106 networks/circuits/systems
frequency of occurrence, 72-74 brain connectivity see connectivity
incidence, 111 brain damage, 76
Autism Spectrum Disorder Employment brain derived neurotropic factor
Support (ASDES), 257 (BDNF), 122, 123
Autism Spectrum Quotient (ASQ/AQ), brain development
204, 205 abnormal, 109-110, 117
autism-specific language profile, 61-62 neurotypical, 124-126
autistic brain brain function
chemistry, 130-134 assessment methods, 135
function, 134-135 autistic brain, 134-135
structure, 126-130 neurotypical brain, 122, 124
autistic disorder, 9, 18, 25, 273¢l brain growth, 125, 136
lack of boundaries between Asperger brain stem, 121, 274g/
syndrome and, 18 brain structure
autobiographical memory, 51, 172-173, autistic brain, 126-130
175, 273¢l neurotypical brain, 120-121
autoimmune disorders, 63, 273¢l research methods, 127
autonomic nervous system (ANS), 123, 273gl brain-derived neurotrophic factor
autopsies, 127 (BDNF), 133
axons, 121, 273g Bridge, The, 46
broader autism phenotype (BAP), 93-94, 103,
Baron-Cohen, S., 36, 133, 144, 145, 148, 2746l
158-159, 192 broken mirror theory, 172, 274gl
Bartak, L., 179 bullying, 84, 189, 260
basic emotions, 36, 37 Burack, Jin los
Bear, M., 109-110 Burr, D., 157
befriending, 81, 273g
behavioural inertia, 167 Calhoun, S., 57
behavioural problems, 67-68, 78; see also Camberwell Study, 20, 43
antisocial behaviour candidate genes, 107, 109, 275gl
behaviourism, 96, 219 care
behaviourist/behavioural, 274¢l in the family, 239-244
Belleville, S., 156 residential care for adults, 250-253
Belmonte, M., 109 substitute care for children, 245-249
Betancur, C., 107 Garr E220
Bettelheim, B., 97 catatonia/catatonic state, 65, 275g

346
 Index

causal links, 91, 94 communicative ability, 47

causal precedence criterion, 98 comorbid conditions, 61, 62-63, 161-162
causal theories, 96-98; see also explanatory comorbid mental health problems, 63-65
theories comorbid specific language impairment (SLI),
causes of autism, 90-96 179-180
central coherence, 147, 275gl comorbid/comorbidity, 276g/
weak coherence theory, 153-155 complementary and alternative medicines
central nervous system (CNS), 121, 122, 275gl (CAMs), 232, 276¢1
cerebellar abnormalities, 129 complex emotions, 36, 37
cerebellar vermis, 124, 275gl comprehensive treatment models (CTMs), 216,
cerebellum, 121, 275gl 220, 276¢l
cerebral cortex, 120, 128-129, 275¢l computational modelling, 135
cerebral hemispheres, 120, 275gl computer-based communication systems, 226
cerebrum, 120, 275¢l computerised (axial) tomography (CT/CAT
challenging behaviour, 67, 78, 84, 275gl scan), 127
change, 78 concordance, 105, 277¢l
Checklist for Autism in Toddles (CHAT), 203-204 congenital capacities, 141
chemical compounds, 111-112, 117 conjunctive search, 156-157, 277¢l
chemistry connectivity, 109, 128, 277¢l
assessment methods, 131 constructional skills, 47
autistic brain, 130-134 constructivism, 144, 146-147
neurotypical brain, 122 constructivism-constructivist model, 277¢l
child protection, 245-246; see also abuse constructivists, 126
childhood autism, 10, 275¢l contagious empathy, 36, 37, 277gl
childhood autistic psychopathy, 5 continuum, 18, 20, 277¢l
childhood disintegrative disorder, 9, 276gl Cook, E., 109
childhood disorders, 7 coordination see motor skills
childhood psychosis, 6-7 copy number polymorphisms (CNPs), 108,
childhood schizophrenia, 6-7, 276gl 277¢l
children at risk, 248-249 copy number variations (CNVs), 108, 277¢l
Children’s Toddler School (CTS), 228 corpus callosum, 121, 277gl
chromosomal disorders, 104 cortex, 277gl; see also grey matter
chromosomal variants, 108 cortical, 94, 277gl
circuitry, 129-130; see also neural networks/ conisol 122,123,133
circuits/systems counterfactual reasoning, 44, 278g
coding, aberrant precision of predictive coding Creak, Dr Mildred, 6, 51
theory, 157-158 Creak’s “Nine Points,” 6-7, 97
cognitive, 7n creativity, 43-46, 166-168
cognitive abilities, 47-48, 57, 58, 169 criminality, 83
cognitive behavioural therapy (CBT), 226-227 critical causal factors, 95
cognitive empathy, 36, 37 cross-model processing, 148-149
cognitive/cognition, 276gl crossover designs, 217, 218
coherence see weak coherence theory crystallised intelligence, 55, 174, 2781
common pathway, 93, 276g cure, 210, 228
common variants, 108; see also copy number possibilities, 215
polymorphisms (CNPs) pros and cons, 211-212
communication, 21, 22,52, 59, 148-149, 168-169 cytogenetics, 107
among practitioners, 189-190 cytokines, 117, 278gl
Augmentative and Alternative
Communication systems (AACs), Davis, G., 153, 158
224-226 declarative memory, 180-181, 278gl
Functional Communication Training default mode network (DMN), 135, 149, 278gl
(FCT), 221 deixis, 62, 278¢l
communication impairments, 38; see dendrites, 121, 278¢l
also language impairment; social depression, 64-65, 66
communication disorder (SCD) deprivation, 117

347
Index

descriptors, 15, 17, 21-22, 278¢l Durand, V., 221

design fluency test, 44, 45, 278¢l dyadic interaction, 32-33, 141-144,
deterioration, 78 177, 280gl
determiners, 54, 68 dyslexia, 66-67; see also developmaniel
Developmental, Dimensional, and Diagnostic dyslexia
Interview (3Di), 202 dyspraxia, 49-50, 280g/
Developmental, Dimensional, and Diagnostic
Interview - short version (3Di-sv), 205 Early Bird treatment programme, 228
developmental dyslexia, 66, 278gl early case reports, 4
developmental dysphasia see specific language early diagnosis, 26, 194
impairment (SLI) early infantile autism, 5, 7
Developmental Individual-difference Early Intensive Behavioural Intervention (EIBI),
Relationship-based (DIR)-Floortime, 220-221
227, 228 early intensive treatment, 233-234
developmental trajectory, 76-78, 279g early onset autism, 75
diagnosis early onset schizophrenia see —
arguments against, 191-192 schizophrenia -
under-diagnosis, 26 Early Social Interaction (ESI), 227-228
early diagnosis, 26, 194 Early Start Denver Model (ESDM), 221-222
late diagnosis, 22-23, 196 Easley, D., 231
uses of, 189-191 echolalia, 39, 40, 62, 161, 181, 280g!
Diagnostic and Statistical Manual of Mental education, 79
Disorders (APA), 8-10 educational provision, 190, 245, 248, 254-255;
DSM-5, 15-17 see also residential care for children
changes from DSM-IV, 18-24, 29 efficacy studies, 131, 216-217, 218, 219, 280gl
determiners, 54, 68 EI theory, 132
objections to changes, 24-26, 29-30 elective mutism, 39; see also selective mutism
practical application, 26-29 electroencephalography (EEG), 135,
specifiers, 54 135, 280gl
DSM-III, 8 Elman, J., 126
DSM-III-R, 9 embryo, 110, 280gl
DSM-IV, 9-10 Emch, Peter, 256-257
DSM-IV-TR, 10 Emory University Autism Centre, 227
diagnostic assessments, 188, 197 emotion blindness, 146, 148
diagnostic criteria, 16 emotion contagion, 36, 37; see also contagious
diagnostic instability, 20 empathy
Diagnostic Interview for Social and emotion-processing, 36-38, 51-52
Communication Disorders (DISCO), 147-148, 149
201-202 emotions, 36, 37
diagnostic methods, 198-202 empathising system, 36, 145, 148, 280g/
diagnostic pathway, 192-198, 193, 279¢l empathy, 36, 77
differential diagnosis, 195, 279gl employment, 79-80, 255-256, 257
diffusion tensor imaging (DTT), 127 English Romanian Adoptees, 117
DISCO Signposting Set, 205 enhanced discrimination-reduced generalisation
discordance, 105, 279gl theory, 156-157, 280g
discrimination, 157, 259-261 enhanced perceptual function (EPF) theory,
dissociable, 22, 279gl 155-156, 160, 161, 169, 178, 280gl
distal, 92, 279g environmental factors, 90, 106
distractibility, 66 environmental factors, 110-117
diversity, 238; see also neurodiversity epidemiology, 72-75, 281gl
dizygotic (DZ) twins, 103, 105, 279gl epigenetic, 109, 281gl
domain-general, 144, 279¢l epilepsy, 62
domain-specific, 144, 279gl episodic memory, 159, 160, 173, 175, 178; see
dopamine, 122, 123, 132, 134 also relational memory
double blind trials see blind trials etiological causes, 90, 92
Down syndrome, 7, 62, 102, 104, 108, 170, 279¢l etiology, 94, 281 gl

348
 Index

evidence-based treatments, 216-218 Freeman, B., 21

non-physical, 218-227 friendships, 81-82
physical, 231 Friston, K., 157-158
executive dysfunctions (EDFs), 151-153 Frith, U., 51, 144-145, 146, 153-155, 173
executive functions, 147, 281 gl frontal lobes, 121, 123, 2821
impaired executive function theory, 151-153 Functional Communication Training
experiencing self, 51, 173 (E@D) 72211
explanatory power, 98, 281 gl functional magnetic resonance imaging (fMRI)
135, 135, 282g
a
explanatory theories
impaired sense of self, 172-173 functional pretend play/pretence, 43, 44, 283gl
islets of ability, 168-169 further education, 79
lack of imagination and creativity, 166-168 future thinking, 161, 167, 283¢l
restricted, repetitive behaviours (RRBs),
149-162 Gaigg, S., 148
socio-emotional-communicative (SEC) Gallagher, S., 146, 147
impairments, 141-149 gamma-amino butyric acid (GABA), 122, 123,
uneven motor skills, 169-172 131-132, 133, 134, 283¢1
see also causal theories gastrointestinal disorders, 63
explicit theory of mind (ToM), 33, 34, 35, 145, gaze following, 33, 142, 283¢/
147, 281g gender, 74
expressive language, 61-62, 178, 181 gene variants, 108-109
extreme male brain (EMB) theory, 133-134, general intelligence, 55, 147, 283¢l
158, 281g generalisation, 157, 178
eye salience, 142 generalised behaviours, 26-27
generalise/generalisation, 223, 283¢l
facial expressions, 37 generativity, 44-46, 283¢]
false belief tasks, 34, 281 gl genetic risk factors, 103-110
false negatives, 199, 204, 281gl genetic screening, 107
false positives, 199, 204, 281¢l genetic variants, 106, 108-109, 283¢/
familial, 281 ¢/ genome, 103, 283¢l
familial ADS, 106 genome-wide association screening
families, 82, 212, 239-244, 239n; see also (GWAS), 107
mother-child relationship genotype, 103, 283¢/
family studies, 105-106 geographical differences, 74-75
Fay, W., 61, 181 Ghaziuddin, M., 25
feelings, 148; see also emotions glial cells, 121, 283¢l
Feldman, R., 143 global networks, 122, 283¢l
feral children, 4 global processing, 153-155, 284gl
fetus, 110, 282g glutamate, 122, 123, 131-132, 134, 284g/
fidelity, 223, 282¢1 Gould, J., 20
financial assistance, 256-258 Gowen, E., 49
financing of services, 190 grammar, 61
fine cuts, AT, 1682160, 287¢1 Grandin, Temple, 41
fine motor skills, 49 Green, J., 214
first-degree relatives, 105, 282g/ grey literature, 97-98, 284gl
fitting and assembly tasks, 47, 169 grey matter, 120, 124, 284¢l
Fitzgerald, M., 46 gross motor skills, 49
fluency tests, 44-45, 282gl guardian ad litem, 246, 2841
fluid intelligence, 55, 179, 282gl Guilmatre, A., 109
fluorescence in situ hybridization gyrus/gyri, 121, 284gl
(FISH test), 107
fluoxetine, 231 : Hamilton, A., 49
focused intervention practices (FIPs), 216, Hammer, J., 133
220, 282gl Hanen More Than Words Programme, 228
formulaic language/formulaicity, 40, 178, 282gl Happé, F., 154-155
Fragile-X (FRA-X) syndrome, 62, 104, 108, 282gl hazards, 83-84

349
Index

health care, 254 individual differences, 68, 95

hearing, 122, 124 infantile autism, 8, 11
hearing impairment, 40 innate capacities, 141-142
Hermelin, B., 44, 147 insider knowledge, 97
herpes encephalitis, 76, 284/ insistence on sameness (IS), 39, 40, 52, 157,
heterogeneity, 68, 284¢l 285¢l
high-functioning language impaired (HF-LI), integration, 147 .
176, 178-179 intelligence, 55-56, 174, 179; see also learning
high-functioning language normal ability
(HF-LN), 176 intelligence quotients (IQs), 56, 285g/
Hill, D.A., 50 intelligence test profiles, 57
hippocampus, 121, 125, 284¢l intelligence tests, 55-57
hobbies see leisure activities International Classification of Diseases (WHO),
Hobson, R.P., 51, 146 8, 10
Hofvander, B., 65 interpersonal self, 51
homogeneity, 22, 284¢l intervention
hormones, 122 aims, 210-211 = s
Howlin Py 1632 assessments for, 188
Hughes C,, 170-171 future directions, 233-234
human rights, 238, 258-261 possibilities for prevention and cure, 214-215
Hume, K., 255 pros and cons, 211-214
humour, 48 see also treatment methods
Hutt, S., 150 islets of ability, 46-49, 168-169
hyperactivity, 66 Ives, M., 191-192
hyperacusis, 40, 284¢l
hypercalculia, 48, 2841 joint attention, 33, 34, 177, 285g
hyper-connectivity, 128, 137 joint laxity, 170, 285¢l
hyperlexia, 48, 284g] Jordan, R., 51
hypersensitivity, 150, 157
hypersystemising, 158-159, 284¢1 Kanner, Leo, 4-5, 7-8, 10, 11, 50, 96, 146
hypertonia, 170, 284g] Kato, K., 65
hypo-connectivity, 128 kinaesthetic, 49, 286gl
hypo-priors, 157, 285g/ Kjelgaard, M., 180
hypo-sensitivity, 150, 157 Kolvin, I., 7
hypothalamic-pituitary-adrenal axis (HPA), Kumsta, R., 117
133, 285¢1
hypotonia, 49, 170, 285¢l labelling, 190, 191, 192
language, 59, 147
ideational fluency test, 44, 285g/ language ability, 18
identical twins, 103, 105, 111 language acquisition, 180
identity, 24, 51; see also sense of self language impairment, 9, 15, 22, 38, 58-62, 174,
idiopathic, 285gl 175-181, 234; see also communication
idiopathic autism, 75-76, 102, 118 impairments
illness, 84 language processing, 130
imagination, 43-46, 166-168 late diagnosis, 22-23, 196
imitation, 50, 142 late onset autism, 75, 115
immediate memory, 159, 160-161, 160, 169, 178 lateralisation, 125, 286g/
immune system disorders, 63 Lawson, Wendy, 42
impaired control of arousal theory, 150-151 learning, maladaptive, 161
impaired executive function theory, 151-153 learning ability, 18; see also intelligence; learning
implicit theory of mind (ToM), 33, 34, 35, 145, disability
147, 285¢1 learning difficulties, 245
impulsivity, 66 learning disability, 23, 55-58, 174-175, 234, 286gl
incidence, 72, 111, 285¢l Learning Experiences: An Alternative
incidental teaching, 227 Programme for Preschoolers and Parents
inclusion, 191, 238-239, 260, 285gl (LEAP), 223

350
 Index

learning style theories, 158-161 meaningful occupation, 255

learning theory, 219, 286gl means of communication, 59
Leary, M., 50 measles, mumps and rubella (MMR) vaccine,
LeClere, S., 231 6S), Wis}, 1K)
Leekam, S., 153 mechanical reading, 48, 169, 287¢1
legal advice, 258 media, 260
Leicestershire County Council Autism medical conditions, 62-63
Outreach (Early Years) Service, 243 medication, 231
leisure activities, 82-83 melatonin, 231
lesion, 286gl memory, 159-161, 175
lesioning, 127 memory retrieval, 166-167
Leslie, A., 144, 145 mental age (MA), 44, 56, 60, 287¢1
lesser variant autism, 93-94; see also broader mental health problems, 63-65
autism phenotype (BAP) mental set, 151, 287g/
lexical semantics, 23, 59; see also semantics mental state, 287gl; see also theory of mind
life expectancy, 84 (ToM)
life partnerships, 81 mentalising, 94, 145, 146-147, 148,
lifespan development, 75-84 173, 287¢1
limb dyspraxia, 50 meta-analysis, 50, 287¢l
limbic system, 120, 286g] metaphors, 44
Limpsfield Grange, 248 metarepresentation, 144-145, 147, 287g]
linguistic anomalies see language impairment methylphenidate, 231
linkage studies, 107 mindreading, 33-35, 144-147, 149, 177, 287g
Liss, M., 150 minicolumns, 129, 287¢l
living arrangements, 80-81 mirror neurons, 172, 287gl
lobbying groups, 25 Modified Checklist for Autism in Toddles
local government agencies, 245, 248 (M-CHAT), 204
local networks, 122, 286g modularists, 126
local processing, 153-155, 286gl module/modular/modularism/modularist, 288¢/
long-term outcomes, 84 monotropic attention, 42, 288¢/
looked after children, 248-249 monozygotic (MZ) twins, 103, 105, 111, 288¢l
Lorna Wing Centre, 197 morphemes, 59
Lovaas model, 219-220 morphology, 59, 61
low endogenous noise theory, 157, 158 morphosyntax, 59
lower-functioning non-verbal (LF-NV), 176, 181 mother-child relationship, 6, 97
low-functioning language impaired (LF-LI), motor skills, 49-51, 169-172, 288¢l
176, 179-181 Mottron,
L., 155-156, 169
lumbar puncture, 131 multiplex families, 106, 288¢l
Lyons, V., 46 Munro, N., 191-192
muscular abnormality, 49
macrocephaly, 136, 286g1 mutism, 39, 61, 181
Maddox, B., 65 myelin sheaths, 121, 288¢1
magnetic resonance spectroscopy imaging
(MRSI/MRS), 131 National Institute for Clinical Excellence
magnetoencephalography (MEG), 135 (NICE), 198, 204
major specifiers see specifiers necessary cause, 95, 98, 288gl
Makaton, 226 necessity, 95
maladaptive behaviours, 67, 286gl neoconstructivism see constructivism
maladaptive learning, 161 neologisms, 62, 288gl
manifest behaviours, 15, 27-29, 286¢l nerve tract, 126, 138, 288¢l
“many-to-one,” 94, 95 neural circuits, 122
Matson, J., 216 neural networks/circuits/systems, 109, 288gl
Mayes, S.,57 neural noise, 158
McGee, G., 227 neurobiological causes, 90, 92
M-CHAT-Revised with Follow-up (M-CHAT- neurobiology, 94, 288¢/
R/F), 204 neurochemicals, 122, 123, 130-134

351
Index

neurochemistry, 288¢/ oppositional defiant disorder (ODD),

neurodevelopmental disorders, 108, 289¢l 64, 290gl
neurodevelopmental problems, 65-67 optimal outcome (OO), 20, 215, 228n, 290gl
neurodiversity, 211, 238, 289g oral apraxia, 50
neuromodulators, 122, 289g1 Ornitz, E.M., 150
neurons, 121, 289¢l Orsmond, G., 83
neuropsychological causes, 90, 92 oscillations, 124, 291gl
neuropsychological explanations outcomes in adulthood, 78-84
impaired sense of self, 172-173 over-focused attention, 150; see also over-
islets of ability, 168-169 selective attention
lack of imagination and creativity, 166-168 overly formal, stilted group, 28, 29, 77
restricted, repetitive behaviours (RRBs), over-selective attention, 42, 291g/
149-162 oxytocin, 122, 123, 132-133, 231
socio-emotional-communicative (SEC) Ozonoff, S., 75
impairments, 141-149
uneven motor skills, 169-172 paid employment, 255-256
neuropsychology, 94, 289¢l pain, 42
neuroreceptors, 122, 289g parallel designs, 217, 218
neurosis, 6, 289¢l parents, 239
neurotramsmitters, 122, 289¢l sources of stress, 240-241
neurotrophins, 122, 289¢l support needs, 242-244
neurotypical, 37, 289¢l see also families; family studies; mother-child
neurotypical brain relationship
chemistry, 122 parietal lobes, 121, 291gl
development, 124-126 partnerships, 81
function, 122, 124 passive group, 28, 29, 77
structure, 120-121 pathognomic, 32, 291g/
Nicholson, Elaine, 24 peer review, 97, 291gl
nicotinic receptors, 132, 289¢/ Pellicano, E., 153, 157
noise, low endogenous noise theory, 158 perception, 40, 291gl
non-evidence based treatments, 218 perceptual function, enhanced perceptual
non-evidence-based physical treatments, 232 function theory, 155-156
non-physical interventions, 217 perceptual learning, 160
non-physical treatments, 216, 218 perceptual memory, 159, 160
borderline evidence-based, 227—230 perfect pitch see absolute pitch (AP)
evidence-based, 218-227 perinatal risk factors, 113, 115
non-specific aggravating factors, 161-162 peripheral nervous system (PNS), 122, 291gl
non-specific factors, 218, 290gl peripheral vision, 40, 29 1gl
nonverbal abilities, 55, 290gl Penny, Eeplisz
nonverbal communication, 38, 290¢l perseveration/perseverative, 291 g/
nonverbal IQ/NVQ, 57, 290gl perseverative behaviour, 152
noradrenaline, 122, 123, 133 personal identity see identity
norepinephrine, 123, 133 pervasive developmental disorders not
normalisation, 238, 260, 290gl otherwise specified (PDD-NOS), 9, 10,
nuclei, 121, 290gl 25, 291g
nucleus, 290¢l pervasive developmental disorders (PDDs),
9-10, 292g
obsessive compulsive disorder (OCD), 64, pervasive mutism, 39, 61, 181, 292g/
290¢l phenotype, 103, 292g
obstetric complications, 113, 115 phenylketonuria (PKU), 104, 131
occipital lobes, 121, 290gl phonemes, 59
O’Connor, N., 147 phonological impairment, 178-179
Odom, S., 255 phonological loop, 178
Oliveras-Rentas, R., 57 phonology, 59, 60
“one-to-many,” 94, 95 phonotactics, 59
open label design, 217-218 physical interventions, 217

352
 Index

physical treatments, 216, 218 programmed cell death, 124-125, 126

borderline evidence-based, 231 proprioception/proprioceptive, 293¢l
evidence-based, 231 proprioceptive, 49
non-evidence-based, 232 prosody, 38, 59
pica, 67, 292gl prospective studies, 32, 33, 76, 293g/
pictograms, 226 protoconversations, 33, 294¢]
Picture Exchange Communication System protodeclarative communication, 146
(PECS), 224-226, 228 protodeclarative pointing, 33, 34, 47, 294¢l
Pinney, A., 247 protodecleratives, 168-169
Pivotal Response Treatment/Training (PRT), protoimperative pointing, 47, 294¢l
292-223 228 protoimperatives, 168-169
placebo, 217, 292gl prototypes, 157, 294¢/
placebo effect, 233 provision of services, 190
Plaisted, K., 156 proximal, 294¢1
Plaisted-Grant, K., 153, 158 pseudo-autism, 76, 294¢1
plasticity, 125, 126, 137, 292g1 psychic akinesia, 167-168, 181, 294¢1
play therapy, 229 psychoanalytic theory, 97
pleiotropic, 292g/ psychosis, 6, 65, 294¢l
pleiotropic risk factors, 108, 112 psychosocial (interventions), 294¢1
poetry, 46 psychotherapy, 229
pointing, 47; see also protodeclerative pointing; public support see financial assistance; state
protoimperative pointing provision
polydipsia, 63, 292gl Purkinje cells, 124, 129, 294¢l
polygenic, 106, 292¢l
positron emission tomography (PET scan), 131, 135 qualitative trait loci (QTL), 107
postmortem studies, 127, 131 quasi-autism, 76; see also pseudo-autism
postnatal brain development, 124-125
postnatal risk factors, 115-117 racial differences, 74-75
post-secondary education, 79 randomised control trial (RCT), 217, 295gl
Powell, S., 51 Rapin, I., 23
Prader-Willi syndrome, 62, 104, 108, 170, 292¢l reach and grasp tasks, 170-171
pragmatic impairments, 39 reading ability see hyperlexia
pragmatics, 23, 39, 59, 149, 292¢l recovery, /7
predictive coding, aberrant precision of reelin, 122, 123, 133
predictive coding theory, 157-158 referent, 181, 295g/
predictive value, 204, 293gl regression, 78
prenatal brain development, 124 regressive ASD, 111, 115
prenatal risk factors, 112-113 regressive autism, 75, 295gl
Preschool Autism Communication Trial relatedness, 146
(PACT), 229 relational memory, 173, 178, 295gl; see also
pretend play, 43-44 episodic memory
prevalence, 72-74, 293gl Relationship Development Intervention
prevention, 210 (RDI), 228
possibilities, 214 relationships, 81-82
pros and cons, 211-212 relatives see families; family studies; parents;
primacy criterion, 98, 293¢gl mother-child relationship; twin studies
primary intersubjectivity, 32n, 293¢l; see also reliable/reliability, 295gl
dyadic interaction repetitive sensory-motor stereotypies (RSMs),
priors, 157-158, 178, 293gl 39, 52, 157, 295g1
probands, 105, 293¢l representation, 144, 295g1
procedural learning, 161 research, 97-98, 190-191
procedural memory, 160, 161, 172, 180 brain chemistry, 13]
prodromal autism, 33, 293¢l brain function, 135
professional assistance, 258 brain structure, 127
prognosis, 9, 293¢l genetic risk factors, 107
programmed, 293¢l integration with services, 222

353
Index

residential care for adults, 250-253 sensory modulation, 150, 297gl

residential care for children, 245-249, 248 sensory overload, 157
residential homes, 81 sensory seeking, 43, 150, 157, 297gl
respite care, 295gl sensory soothing, 43, 150, 157, 297gl
response inhibition, 152 sensory-perceptual anomalies, 40-43, 177-178
restricted, repetitive behaviours (RRBs), 39-40, sensory-perceptual imbalance theories,
52, 77-78 % 153-158
links with sensory-perceptual anomalies, 42-43 serotonin, 122, 123, 130-131, 133, 134
neuropsychological explanations, 149-162 serotonin transporter (SERT or 5-HTT),
reticular activating system, 150, 295¢l 130, 297¢l
retrospective studies, 32, 76, 295g service provision and finance, 190
Rett syndrome, 9, 295gl services, 253-258
rights see human rights severity, 28, 68
Rinehart, N., 50 sexual relationships, 81
risk factors, 102-103 Shah, A., 153
environmental, 110-117 Shalom, B., 147
genetic, 103-110 shared (joint) attention, 33; see also joint
risperidone, 231 attention
Ritvo, E., 21 Shared Attention Mechanism (SAM), 145
Romanian orphans, 117 Shore, Dr Stephen, 68
rote learning, 161, 178 shutdown, 42, 298gl
rote memory, 47, 169, 181 Shute, N., 215
Rumsey, J., 151-152 siblings, 241-242
Russell, J., 152 sign language, 226
simplex families, 106, 298¢/
Sainsbury, Claire, 192 Sinclair, Jim, 41, 46
salience network, 129, 296gl single blind trials see blind trials
savant abilities, 48, 155-156, 169, 296gl single common pathway explanations, 93, 96
savants, 48, 296¢l single factor theories, 93, 298g/
schizoid personality disorder, 7, 296g/ single gene disorders, 104, 109
schizophrenia, 6-7, 108 single photon emission computed tomography
school see educational provision (SPECT), 135
Schuler, A., 61, 181 single subject experimental designs (SSEDs),
screening, 73, 202-206, 296¢l 217,218
screening assessments, 188 single-nucleotide polymorphisms (SNPs), 109,
secondary intersubjectivity, 32n, 296¢l; see also 298¢l
triadic interaction skills see islets of ability
see-saw-effect, 159-160, 169, 296g! Skuse, D., 19
selective attention, 296gl; see also over-selective sleep disturbance, 67-68
attention smell, 42
selective mutism, 39, 296¢l social ability, 47
self, sense of, 51, 172-173 social anxiety disorder, 64, 65, 298¢l
self-determination, 258-259 social behaviour types, 28
self-injurious behaviours (SIBs), 39, 67, 296¢1 social brain, 149, 298¢l
self-monitoring, 151, 296g/ social class, 75
self-other equivalence mapping, 50, 297¢l social communication disorder (SCD), 16,
self-regulation, 223, 297¢l 23-24, 298¢l
semantic memory, 159, 160, 160, 175, 180 Social Communication, Emotional Regulation,
semantic-pragmatic disorder, 23, 297g Transactional Supports (SCERTS), 228
semantics, 59, 61, 297g Social Communication Questionnaire
sensation, 40, 297¢l (SCQ), 204
sense ofself, 51, 172-173; see also identity social interaction, 21,51, 168
sensitivity, 199, 204, 297<l social learning, 142
sensory abnormalities, 21 social media, 82
sensory impairments, 142-143; see also hearing social motivation, 142, 143
impairment; visual impairment social orienting, 142, 143, 146, 298¢/

354
 Index

social phobia see social anxiety disorder symbol/symbolic/symbolise, 300gl

Social Responsiveness Scale (SRS), 206 sympathy, 36, 37
social reward, 146 synaesthesia, 42, 300¢l
socio-communicative abnormalities, 28-29 synapses, 109-110, 300gl
socio-cultural deprivation, 174-175 synaptic pruning, 124, 125, 126, 300gl
socio-economic status (SES), 75, 194, 298¢/ synaptogenesis, 117, 124, 125-126, 300¢l
socio-emotional-communicative (SEC) synchronisation, 142, 143
impairments, 32-39, 51-52, 77, 141-149 syndrome, 300g
Somerset Court, 252 syndromic autism/ASD, 102, 104, 127, 131,
Son-Rise Programme, 228 210, 300g!
specific language impairment (SLI), 179-180, syndromic disorder, 61
299el syntax, 59, 61
specificity, 199, 204, 298¢/ systemise/systemising mechanism, 300gl
specificity criterion, 98, 298-299¢l systemising, 158-159
specifiers, 15, 17, 54, 68, 299g/
behavioural problems, 67-68 Tager-Flusberg, H., 146, 147, 180
comorbid conditions, 62-63 Takes Two to Talk programme, 228
language impairment, 58-62 taste, 42
learning disability, 55-58, 174-175 temporal lobes, 124, 125, 301gl
mental health problems, 63-65 teratogens, 113, 301gl
neurodevelopmental problems, 65-67 terminology, 14
spectrum concept, 20-21 term-time residential care, 247-248
speech, 59, 60, 125 testosterone, 113, 123, 133-134
speech generation devices, 226 Theory of Mind Mechanism (ToMM), 145
speech perception, 177-178 theory of mind (ToM), 33-35, 144, 145, 147,
speech prosody, 38, 59 148, 301gl
splinter skills, 46-47 thimerosol, 113, 115, 301¢l
sporadic, 299¢l tight heel cords, 170
sporadic ASD, 106, 111 timing, 143, 146, 149
standardised tests, 55-58, 299¢l toe-walking, 170
state provision, 252; see also financial touch, 42
assistance Tourette’s syndrome, 161, 260, 301¢/
state provision for children at risk, 248-249 transmagnetic stimulation (TMS), 231
statistical power, 219, 299g treatment, 210, 213-214
stereotypes, 68, 191 Treatment and Education of Autistic and
Stewart, H., 50 related Communication handicapped
stigmatisation, 190, 191-192, 259-261 Children (TEACCH), 224, 228, 255
Strain, P., 223 treatment methods, 216-233
stress, 161, 240-242 borderline evidence-based non-physical
structural magnetic resonance imaging (sMRI/ treatment, 227-230
MRIs), 127, 299¢l borderline evidence-based physical
Structured Teaching, 224, 228 treatment, 231
subcortical, 94, 299g/ borderline treatments, 218
substitute care for children, 245-249 evidence-based non-physical treatments,
substitute care providers, 258 218-227
subtypes, 9, 10, 15, 18, 20, 24-26 evidence-based physical treatments, 231
sufficiency, 95 evidence-based treatments, 216-218
sufficient cause, 299gl non-evidence based treatments, 218
suicide, 65, 66, 84 non-evidence-based physical
sulcus/sulci, 299¢l treatments, 232
support for families, 242-244 unproven yet effective, 233
supported living, 81, 251-252, 299¢1 triadic interaction, 33, 147, 301 gl
surface properties, 155 trichotillomania, 67, 301gl
susceptibility genes, 109, 300gl Tsai, be, 25
symbolic pretend play, 43-44, 300g/ tuberous sclerosis, 62, 109, 301¢l
symbols, 59 Tuberous Sclerosis Complex, 104

355
Index

Tulving, E., 159 visual impairment, 40-42

Turner syndrome, 62, 104, 108, 301gl visual search tests, 156-157
twin studies, 105, 110-112
twins, 103 Walden Toddler Programme, 227
typicality, 18, 301¢/ weak central coherence (WCC), 153, 178, 303gl
weak coherence theory, 153-155
Ullman, M., 159, 180 % Wechsler scales, 55-56, 56
under-diagnosis, 26 Wechsler subtest scores, 58
uneven memory/learning abilities theory, White, Darren, 41
159-161 White, S., 65
unitary disorder, 9, 302¢l whole-year residential care, 246-247
universality criterion, 98, 302gl “Wild Boy of Aveyron,” 4
urine samples, 131 Williams, Donna, 41
Williams syndrome, 64, 109, 170, 303¢l
validity, 199, 302g/ “windows task” experiment (Russell), 152
van Dalen, John, 41 Wing, L., 9, 19, 20, 28, 50
~
Vanvuchelen, M., 50 word meaning, 23, 178
vasopressin, 122, 123, 133 work, 79-80
vegetative functions, 121, 302¢l working memory, 160, 178
verbal abilities, 55, 302g/ World Health Organisation, 8, 10
verbal apraxia, 181, 302g/
verbal fluency test, 44, 302g] Zander, E., 26
verbal IQ (VQ), 57 Zoghbi, H., 109-110
vermis see cerebellar vermis Zwaigenbaum, L., 75-76

356
 LIBRARY
SCHEELE MEMORIAL

3 6655 00140565 2

RC 553 .A88 B68 2017

Boucher, .Jill,
Autism spectrum disorder

th
DATE DUE

Concordia College Library

Bronxville, NY 10708
ie rast
CP Bh _
 ‘A free spirit and strongly critical mind; an independent thinker, with encyclopedic
knowledge of autism. Who else can write a multidisciplinary book on autism single-
handedly”
Laurent Mottron, Professor of Psychiatry and Research Chair in Cognitive
Neuroscience of Autism, University of Montreal

‘The first edition was a completely invaluable and comprehensive go-to guide
for both my BPhil and MEd in Autism, providing reliable information in an easily
. accessible way. I can’t wait to read the new book,
Trudi Rainsberry, Special Educational Needs Teacher and Researcher
specialising in autism

What is meant by ‘autistic spectrum disorder’ (ASD)? What behaviours do

people with ASD share regardless of age, ability and individual differences?
What causes ASD? Is ASD increasingly common? And are males more often
affected than females? How may people with ASD best be helped to live fulfilling
lives as valued members of society? Can ASD be — should it be — ‘cured’?

The updated and extensively revised 2nd edition of this popular book explores
answers to these questions based on the latest developments in research and
practice. Individual chapters summarise what is known about the ‘first causes’ of
ASD, their effects on the brain, and on psychological functioning. Other chapters
summarise methods of assessment, treatment, education and support. Illustrated
with real-life accounts of people with ASD and examples of current ‘best practice’,
this book provides essential information in an accessible and lively form.

As an introductory text for those knowing little about ASD, as well as a source of
up-to-date information and references for those familiar with the field, the new
edition of this book provides an invaluable resource for students, practitioners
and families.

J ill. Boucher: is Professor of Developmental Bechelcay at City, University

\ ofLondon.

SSAGE
ISBN-13: 978-1-44b2-9567-0

=< Los
Angelesa LondonNey Delhi! Singapore |ere ce | Melbourne

oo 9"781446'295 Il