Autism Spectrum Disorder

Early Signs
 ASD

Autism Spectrum Disorder is a

Neurodevelopmental disorder
affecting the functioning of the
brain, and language
development, social interactions
and certain repetitive behaviors

ASD is thought to start prenatally

but can be clinically observed - in
some cases - starting 6 months of
age.

Photo by unknown author, Pixabay, Public Domain

 Severity Levels
Severity Level Social Communication RRBs
I (mild) Inclusion support with peers; child Cues & reminders for
shows age level speech transitions to manage
reluctance, organization
and planning
II (moderate) Inclusion support/partial separate Step plans for transitions
class depending on variability in to manage inflexibility;
behaviors; inability to engage with distress around change,
peers; immature and diminished visible to casual observer
talk, and talk topics limited to
interests
III (severe) Separate class due to limited & Need to reduce demands
minimal initiations, responses, little due to limited coping, level
intelligible speech & shows of RRBs interfere with
responses limited to self needs function, & frequent
distress reactions with
change
 Background: Important numbers
Prevalence of Autism: 1/54 (CDC, 2020-
period covered is 2016)

Age of diagnosis still close to 4 years

Access to diagnosis still difficult for

African American and Latinos

Access disparity increased with COVID

EARLY DIAGNOSIS KEY FOR EARLY

SERVICES

Image source: Microsoft Stock Images

Early Signs of ASD
 Joint Attention/Sustained Social Engagement
— Orientation to Social stimuli:
— Response to name by 8-10 months

Development in JA (joint Attention):

— Starting at 8m (following gaze)
— Following a point: 10-12 months
— 12-14 months: protoimperative
pointing (to request an object)
— 14-16m: protodeclarative pointing:
to share an interest
— Mastery of JA: essential for
functional language
This Photo by Unknown Author is licensed under CC BY

6
 Social development:
Joint Attention
• Sharing attention with others through pointing, showing and
coordinating looks between objects and people

• Ability to engage others non-verbally (with eye contact, smiles and

gestures)
• mutually sustained joint engagement with others

• Children with autism: joint attention/sustained joint engagement are

impaired

• One of the earliest signs of ASD

 Joint Attention

Child follows a point Child initiates to show

Photo by unknown author, pxhere, Public Domain

Early Development
• Babies start
communicating and
relating to other people
at birth

Image source: Microsoft Stock Images

 3 months

• Begin to develop a
social smile

• Imitate some
movements and facial
expressions

• Enjoys and seeks

interaction
Image source: Microsoft Stock Images
 Early Concerns
6-9 months

— Decreased warm, joyful interaction with

parent or caregiver

— Decreased alternating to-and-fro vocalizations

infant/parent

— Decreased recognition of mother's voice

— Disregard for vocalizations

(i.e., lack of response to name)
but awareness for environmental
sounds

Image source: Microsoft Stock Images

 Early Concerns
9-12 months

— Delayed onset of babbling past 9 months of

age

— Decreased or absent use of prespeech

gestures (waving, pointing, showing)

— Lack of expressions such as "oh oh" or "huh"

— Lack of interest or response of any kind to

neutral statements
— Start to see impairments in JA (Social)

Image source: Microsoft Stock Images

 Early Concerns
12 months

—Decreased back-and-
forth gestures, such as
pointing, showing,
reaching, or waving bye
—IMPAIRED JOINT
ATTENTION - Clear
—Not answering to name
when called
—No babbling – mama,
dada, baba
Image source: Microsoft Stock Images

13
 Early Concerns
18 months
—No single words by 18
months

—No simple pretend play

—No response to name

—Impaired joint attention

Image source: Microsoft Stock Images
 Early Concerns
24 months
• No two-word combinations (e.g.,
“mommy car”, “daddy bye-
bye”)

• Delayed socio-dramatic play with

objects (e.g., dolls)

• Decreased positive reaction to

other children

• Decreased showing or initiation

of joint attention

This Photo by Unknown Author is licensed under CC BY

 Early Concerns
36 months
• No phrase speech
• Language limited to
requests
• No keen interest in other
children
• Weak joint-attention skills
• No complex socio-dramatic
play
• Stereotypic behaviors and
interests greater than interest
in people
• Remember: Parents may report that
they were concerned earlier on
about language delays but were told:
“he is boy” “he is first born” or “they
speak another language at home”:
NONE CAUSES LANGUAGE DELAY.

Image source: Microsoft Stock Images

 Concerns for ASD
No babbling by 12 months
No gesturing by 12 months (pointing, waving bye bye)
No single words by 16 months
No 2-word spontaneous by 24months
LOSS of ANY LANGUAGE or SOCIAL skills at ANY age
 Early Signs of ASD

no pointing
4 behavioral not showing objects to others
characteristics at 12m: not looking frequently at faces
no response to name

Most consistent finding from home videos:

No reliable response to name
 Recognizing Early Signs
v Lack of Spontaneous Gestures
v High Risk infants who eventually received an ASD
diagnosis were reported to have both fewer early
gestures (12 months) including:
v Showing
v Pointing
v Waving

v And fewer late gestures (18-24 months)

v Play gestures such as pounding with a Unknown author, pxfuel, Public Domain

hammer
v Feeding, dressing, and bathing a doll

Spontaneous initiation of communication in infants at low and heightened risk for autism spectrum disorders. Winder, Breanna M.;
Wozniak, Robert H.; Parladé, Meaghan V.; Iverson, Jana M.; Developmental Psychology, Vol 49(10), Oct 2013, 1931-1942.
 Recognizing Early Signs
v Hypersensitivity to Stimuli
v Young children with ASD often have tactile and
taste/smell sensitivities and difficulties with
auditory filtering

v Ask Parents
Image source: Microsoft Stock Images
v Does your child seem oversensitive to noise?
(e.g., plugging ears)
v Does your child react in a normal way to sensory
stimulation, such as smells, food textures,
clothing/shoes, sound, or pain?

Image source: Microsoft Stock Images

1. Wiggins, L.D., Robins, D.L., Bakeman, R. et al. J Autism Dev Disord (2009) 39: 1087. doi:10.1007/s10803-009-0711-x
2. Pediatr Nurs. 2014;40(1):33-37.
 Other Concerns
— Atypical toy exploration at 12m: predictor of subsequent ASD diagnosis: rolling, spinning,
rotating, unusually prolonged visual inspection

— Repetitive signs may not start until after age 2y

— Duration of visual orienting towards and away from mothers’ faces: high risk infants
shift gaze to and from parents faces less frequently than control group
 RED FLAGS for ASD

• No babbling by 12 months
• No gesturing by 12 months (pointing, waving
bye bye)
• No single words by 16 months
• No 2-word spontaneous by 24months
• LOSS of ANY LANGUAGE or SOCIAL skills at
ANY age
– Filipek & al: Practice parameter: Screening and diagnosis of autism. Neurology: 2000
Why is it important to identify and intervene early?

• Neural circuits, which create the foundation for learning, behavior and health, are most flexible
or “plastic” during the first three years of life.

• Early social/ emotional development and physical health provide the foundation upon which
cognitive and language skills develop.

• Early intervention can change a child’s developmental trajectory

Why is early detection important?

Outcome Studies
• School
– Success
– Integration
• Family
– Function
– Enhanced knowledge
– Harmony
• Quality of life
Image source: Microsoft Stock Images

– Enhance the child’s personal potential

Surveillance and Screening

Image source: Microsoft Stock Images

 Developmental Milestones
(from Sherri Alderman's Act Early Train the Trainer toolkit for early educators and parents.)

• Milestones are things most children can do by

a certain age: how the child plays, learns,
speaks, moves

• They offer important clues about each child’s

developmental health

• Parents may need guidance in recognizing

them

• All children develop at their own pace: some

will reach milestones slightly late or early
This Photo by Unknown Author is licensed under CC BY-SA
 Reflection Activity:

Write down your favorite Developmental milestone.

What age would you expect it to appear?
What would you think if it is delayed?
(from Sherri Alderman's Act Early Train the Trainer toolkit for early educators and parents.)
 Tracking milestones
(from Sherri Alderman's Act Early Train the Trainer toolkit for early educators and parents.)

• Tracking the child’s milestones gives you and

his/her parent a chance to recognize early
signs of a possible delay so the child has the
best chances to get treatment early

• Monitoring or tracking is different than

screening but both look at milestones
acquisition and are important in recognizing
early signs

• https://www.cdc.gov/ncbddd/actearly/milesto
nes/index.html
 Screening and Monitoring
(from Sherri Alderman's Act Early Train the Trainer toolkit for early educators and parents.)

• Developmental Screening: Developmental Monitoring:

WHO: trained provider, early WHO: you, parents, grandparents
childhood provider WHAT: look for developmental
WHAT: look for developmental milestones
milestones WHEN: Birth to 5 years
WHEN: at 9, 16, 18, 24, 30 or WHY: To help you:
whenever concerns -Celebrate your child’s development
WHY: if child needs help or a -Talk about his/her progress
developmental consultation
-Learn what to expect
-identify concerns early
HOW: validated and formal screening
measures HOW: With easy, free checklists
(www.cdc.gov/Milestones)
CDC and MA Act Early Campaigns
https://www.maactearly.org/
CDC Act Early Website and material
www.cdc.gov/actearly
Screening for ASD
 Who screens children for NDD and/or Autism?
• American Academy of Pediatrics recommends developmental
surveillance at each well child visit and periodic screening

• Autism screening recommended to all at 18 and 24 months if no

concerns otherwise

• 1/4 underserved low income children not receiving special

education services when they need it (Nelson, Acta Pediatrics 2013)

• Focus on training other providers : early childhood providers

(Headstart, WIC) for developmental surveillance and monitoring
 Access
• Nationwide shortage of diagnosticians

• Long wait times for identification at a critical age of brain development

• Access is much more challenging for lower income and culturally diverse
families

• Need to think of new models

 Pediatrician’s Role in Autism
Guidelines - AAP
1. General observation and milestones
2. Ongoing developmental screening and
surveillance
3. Autism screen at 18 and 24 mo
4. Refer to Early Intervention and specialist for
formal diagnostic evaluation
5. Case management

Hyman SL, Levy SE, Myers SM. Council on Children with Disabilities, Section on
Developmental and Behavioral Pediatrics. Identification, evaluation, and
management of children with autism spectrum disorder. Pediatrics.
2020;145:e20193447.
 Surveillance

• History is primary. Ask about REGRESSION and lack of progress.

• OBSERVATION of Behavior: Does the child...
– Make eye contact with you?
– Engage in back and fro babbling
– Have extremes of temperament
– Answer to his/her name
– Look across to see what you point at? “Look” while pointing
– Play pretend play
– Point with his index when asked to?
– Interact nicely with his/her mother/parent?
 Different Trajectories

• Early Onset

• Regression of skills (15-24 months)

• “Later” Onset
 Principles of Screening Tests

•Sensitivity: Positives are true positives

•Specificity: Negatives are truly negatives

•PPV: Positive Predictive Value

•Proportion of patients with positive test results who are correctly diagnosed

•NPV: Negative Predictive Value

Proportion of patients with negative test results who are correctly excluded
Level 1 Screening Tools
 Screening tools for ASD

ASD Screening tools not yet fully validated for < 18 months

For children > 18 months

Most frequently used is the Modified Checklist for Autism in
Toddlers

MCHAT R/F Revised with Follow-up Interview

Free & translated into several languages :

www.mchatscreen.com
DOWNLOAD THE M-CHAT
R/F
www.mchatscreen.com
 MCHAT-R scoring
• If child is younger than 24 months, screen
LOW-RISK: again after 2y
• No further action required unless surveillance
Total Score is 0-2 indicates risk for ASD.

MEDIUM-RISK: • Administer the Follow-Up (second stage of M-

CHAT-R/F)
Total Score is 3-7

HIGH-RISK: • It is acceptable to bypass the Follow-Up

• Refer immediately for diagnostic evaluation
Total Score is 8-20 and eligibility evaluation for early intervention.
MCHAT R/F Follow up Interview
www.mchatscreen.com
 MCHAT R/F

IN A PRIMARY CARE OFFICE or LOW RISK

group:

– Low Positive Predictive Value

(PPV) for ASD (0.54)
– High PPV for Developmental
Delay (0.98)

→ Over-referral for ASD evaluations

Image source: Microsoft Stock Images
And longer wait delaying those who really
need a diagnosis
 MCHAT R/F
• Toddlers in EI have already been identified at risk for delays:
o Administering the MCHAT-R/F to this group in EI will have higher PPV for an ASD
with reported PPV of 61-79%

• In our study with EI and Level 1 and Level 2 ASD screeners (Rapid Interactive
Screening Test for ASD in Toddlers):
o PPV of 87.7 % which is much higher than PPV previously reported in a high-risk
group of 61-79%

• YOU CAN ADMINISTER IT at 16-30 months

Choueiri R, Lindenbaum A, Ravi M, Robsky W, Flahive J, Garrison W. Improving Early Identification and Access to Diagnosis of
Autism Spectrum Disorder in Toddlers in a Culturally Diverse Community with the Rapid Interactive screening Test for Autism
in Toddlers. Journal of Autism and Developmental Disorders. Published online 2021:1-9. doi:10.1007/s10803-020-04851-3
 The CSBS-ITC
Communication & Symbolic Behavior Scales: Infant Toddler Checklist

• For those <18 months

• Free download
http://brookespublishing.com/w
p-
content/uploads/2012/06/csbs-
dp-itc.pdf
• Between 6 to 24 months
• Evaluates gestures, eye contact,
facial expressions, vocalizations
• Scorable by anyone but requires
clinical interpretation
• NOT AN ASD SCREENER BUT…..
 The CSBS-ITC
Communication & Symbolic Behavior Scales: Infant
Toddler Checklist
• Although not an autism screener, it is validated for use in those
younger than 18 months and a study published in 2010 did find a
correlation between the CSBSDP-IT score at 12 months and a
diagnosis of ASD at 3 years of age
 Special Considerations
1- Screening for Neurodevelopmental delays and ASD in Culturally
diverse families
2-Children in Foster care

Image source: Microsoft Stock Images

1- Cultural and Socioeconomic factors in early
identification of NDD and Autism

Image source: Microsoft Stock Images

 Developmental Screening of Refugees
(Kroening et al; Pediatrics, 2016)
• Interviews and focus groups: Bhutanese-Nepali, Burmese, Iraqi and Somali refugees
• Most did not have a word for “development” in their language and were unaware of
developmental milestones

• Perceived barriers to identification of delays:

– limited education
– Poor healthcare knowledge
– Language
– Traditional healing practices
• Facilitators:
– Community navigators
– Trust in healthcare providers
– In-person interpretation
– Visual supports
– Education about child development
Monitoring development and screening for ASD in culturally
diverse families

• The concepts of milestones, screening, early identification and

early intervention may be unfamiliar for families from diverse
background

• For many families, these concepts are culturally bound and

they may perceive that their children will be stigmatized in
their communities by participating in these practices
MA Act Early State Team
www.MAActEarly.org
• Culturally competent autism
screening guide
• M-CHAT in 5 languages
• Posted for use in public
domain
 2- Vulnerable Children: Children 0-5 in welfare and foster care

• Genetics and environment

• In utero substance use:

– NAS (Neonatal Abstinence Syndrome), Alcohol, smoking, poor
prenatal care: associated with developmental delays, learning
delays, autism
– Increased risk of developmental delays

• Increased risk of autism, developmental delays

• Multiple placements, disruptions:

– Attachment issues
– Trauma
– Difficult follow up with stable primary care physician
 After Screening is Positive

• EI/Early Childhood Services:

– Immediate referral

• SLP, OT: can start intervention even without a diagnosis

• At the same time : Referral for Diagnosticians for diagnosis

Early Intervention

Image source: Microsoft Stock Images This Photo by Unknown Author is licensed under CC BY-SA
 Habilitative Interventions
Specific Aspects
! Communication/Language:
" Functionality v/s form,
" Visually based augmentative communication systems
" Pragmatics and descriptive language
! Occupational Therapy:
" Sensory integration basis
" Fine motor skills, coordination, daily living skills
" Oral sensitivities
 Habilitative Interventions
Specific Aspects

• Cognition/Behavior:
– Teaching how to play with any particular toy
– Pretend play
– Ways to ask for help
– Visual schedules
– Direct instructions, transitions
– Positive reinforcement
– Structured interaction
 Treatment PEARLS
• Families are an active part of the intervention
• Treatment :combination of developmental and behavioral
approaches
• Intervention services should consider sociocultural factors in
assessment and delivery
• Intervention should enhance developmental progress and
improve functioning related to core and associated features of
ASD (social emotional, behavioral, regulation)
• Research needed to recognize active ingredients of successful
therapy (agent, hours, type)
• Always consider medical factors that may affect clinical
presentation and progress
Conclusions

Image source: Microsoft Stock Images

 Conclusions

• Some Children with ASD have an atypical development from early on

• Infants with risk signs should be offered interventions for symptoms, not
wait for definitive diagnosis
• Development of treatments for infants is an urgent priority
• Continued search for markers that identify risk BEFORE the onset of
behavioral signs

61
 Conclusions
— Close monitoring of high-risk children needed

— Need to be screened often; Regression

— Careful Clinical evaluation and can use the CSBSDP if younger than 18
months

— If using MCHAT-R: Follow with interview when needed

— Refer to other clinicians if concerns

— Educate Families: trusted web sites (AAP, CDC, First signs), open
communication.
— Parents play critical role in their child’s development
 SUMMARY
Become familiar with developmental milestones and how to track
development

Learn how to discuss concerns with families but also celebrate their child’s
milestones

Become familiar with the CDC Act Early material

Think about ways to integrate the CDC Act Early Material into your settings