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Autism Spectrum Disorder is a neurodevelopmental disorder characterized by persistent deficits in social communication
and social interaction across multiple contexts, and restricted, repetitive patterns of behavior, interests, or activities.
Symptoms must be present in the early developmental period and must cause clinically significant impairment in
functioning
It impacts verbal and non-verbal communication, social relationships, and shows restricted or repetitive behaviors.
The term neurodevelopmental means the brain's development is affected from early stages.
The word “spectrum” indicates that autism is not one single condition, but a range of symptoms and severity.
• Some individuals may be nonverbal and require lifelong support.
• Others may have average to above-average IQ, but face difficulty in social understanding or sensory regulation.
Examples of Spectrum Variation:
• A child who is nonverbal, but understands instructions well
• A child who talks fluently, but cannot make friends or read facial expressions
Prevalence and Gender Differences in Autism Spectrum Disorder
Global Prevalence (WHO & CDC Data)
According to the World Health Organization (WHO):
Approximately 1 in every 100 children worldwide is diagnosed with Autism Spectrum Disorder (ASD).
According to the Centers for Disease Control and Prevention (CDC, USA, 2023):
The latest estimate is 1 in 36 children (2.8%) in the United States.
Gender Ratio in ASD Diagnosis:
Studies consistently show that Autism is about 4 times more common in boys than in girls.
Why is ASD underdiagnosed in girls?
1. Girls often mask symptoms:
•They may imitate social behaviors of others to blend in.
•They show better eye contact or pretend to understand social rules.
2. Their traits are less disruptive:
Instead of hyperactivity or tantrums, girls might be quiet, withdrawn, or anxiously perfectionistic
3. Different interests:
Girls may have “acceptable” special interests like animals or books, so their repetitive focus goes unnoticed.
This means many girls may be missed or misdiagnosed with anxiety, ADHD, or just labeled “shy.”
Neurodiversity perspective
Instead of viewing autism as a disorder to be “fixed,” the neurodiversity model sees it as
a different way of thinking and experiencing the world.
Neurodiversity means:
Just as people are different in race, gender, or language –brains too can be wired differently.
Autistic people are not broken – they may have challenges but also unique strengths like
attention to detail, honesty, and pattern recognition.
Levels of Autism (DSM-5 Classification)
Level 1 (Mild) → Level 2 (Moderate) → Level 3 (Severe)
Autism is categorized into three levels based on the amount of support needed in daily life focusing on social
communication and restricted/repetitive behaviors.
Level 1 – Requiring Support(Mild)
Social Challenges:
•Has trouble initiating conversations
•May appear awkward or struggle with back-and-forth dialogue
•Difficulty making/keeping friendships
Behavioural Signs:
•Rigid routines, finds it hard to adapt
•Discomfort with change affects day-to-day functioning
Support Required:
Needs minimal structured support to function in school/home
Example:
•A child who talks but can’t join group play, insists on playing the same game every day
Level 2 – Requiring Substantial Support (Moderate)
Social Challenges:
• Clear difficulties in both verbal and non-verbal communication
• Limited eye contact, struggles to express needs properly
Behavioural Signs:
• Strong resistance to change
• Repetitive behaviors like flapping, spinning, or fixating on specific topics
Support Required:
• Needs regular adult assistance to manage transitions, emotional regulation
Example:
A child who uses limited language, avoids peers, and becomes highly upset if objects are moved.
Level 3 – Requiring Very Substantial Support (Severe)
Social Challenges:
• Very limited communication — may be non-verbal
• No understanding of social rules (e.g., personal space, turn-taking)
Behavioral Signs:
• Extreme resistance to changes
• Intense repetitive movements or interests
• May have meltdowns due to sensory overload
Support Required:
• Needs 1:1 support most of the time
• May need alternative communication tools (PECS, AAC)
Example:
A child who cannot speak, becomes agitated when routine is disturbed, and needs continuous adult presence
The DSM-5 criteria for Autism Spectrum Disorder (ASD) include the following components:
1.Persistent Deficits in Social Communication: This includes difficulties in social-emotional reciprocity, nonverbal
communicative behaviors, and developing, maintaining, and understanding relationships.
2.Restricted, Repetitive Patterns of Behavior: At least two of the following must be present: stereotyped or repetitive
motor movements, insistence on sameness, highly restricted interests, and hyper- or hyperactivity to sensory input.
3.Symptoms Must Be Present in Early Development: Symptoms typically manifest in the early developmental
period, although they may not become fully manifest until social demands exceed limited capacities.
4.Clinical Impairment: The symptoms must cause clinically significant impairment in social, occupational, or other
important areas of functioning
5.Exclusion of Intellectual Disabilities: The symptoms must not be better explained by intellectual disability or global
developmental delay.
Age-Wise Symptoms of Autism Spectrum Disorder
Autism Symptoms in Children
1. Communication & Language Difficulties:
• Delay in speaking or complete lack of speech
• Does not respond to name by 12 months
• Lack of pointing or using gestures (e.g., waving, nodding)
• Echolalia (repeating words/phrases)
• Difficulty understanding or using verbal and non-verbal
communication
2. Social Interaction Challenges:
• Poor eye contact
• Does not show interest in playing with peers
• Prefers to play alone (“in their own world”)
• Lack of empathy or difficulty understanding emotions
• Doesn't seek comfort when upset
4. Learning & Developmental Signs:
3. Behavioural & Sensory Differences: • Uneven skill development (e.g., good memory but poor
• Repetitive behaviors (e.g., hand-flapping, spinning, lining up language)
toys) • Delays in motor milestones (e.g., walking, coordination)
• Insistence on sameness (distress with small changes) • Struggles with pretend play or imagination
• Narrow, intense interests (e.g., fans, numbers)
• Sensory sensitivities (e.g., avoids loud sounds, certain textures,
lights)
• Unusual attachment to objects (e.g., string, key)
Autism Symptoms in Adults
1. Social Interaction & Relationships:
• Difficulty initiating or maintaining conversations
• Misinterprets social cues like tone, facial expressions, or
sarcasm
• Trouble forming or maintaining friendships and romantic
relationships
• Preference for solitude
• Feels “different” or “misunderstood” in social settings
2. Communication Patterns:
• Formal, monotone, or robotic speech
• Talks excessively about specific interests, unaware of
listener’s interest
• Struggles with small talk
• May avoid eye contact, or overcompensate with forced eye
contact
3. Routines & Interests:
• Strong preference for routine; distress when plans change
• Highly focused interests (often in-depth knowledge of specific
topics)
• Repetitive movements (fidgeting, pacing, tapping fingers)
• Need to follow rigid daily schedules
4. Sensory Processing Issues:
Emotional & Mental Health:
May mask (camouflage) symptoms to fit in socially, leading to stress
Higher risk of anxiety, depression, and burnout
May feel emotionally exhausted after social interactions
6. Occupational & Daily Living:
Difficulty with transitions or multitasking
Challenges in workplace communication or adapting to change
Needs time to recover from sensory/social overload
Causes & Risk Factors of Autism Spectrum Disorder (ASD)
Autism Spectrum Disorder (ASD) is believed to arise from a complex combination of genetic, environmental, and
neurobiological factors. It is not caused by poor parenting, vaccines, or screen exposure, as widely clarified by
research.
A. Genetic Factors
Genetics play a significant role in ASD. Studies show that up to 80–90% of autism risk may be inherited.
Family History: If a parent or sibling has ASD, the risk of another child having it increases significantly
Twin Studies: Identical twins show a high concordance rate—if one has autism, the chance of the other also having it is much higher than in
fraternal twins.
Sibling Recurrence: Families with one autistic child have about a 20% chance of having another child with autism, much higher than in the
general population.
Genetic Mutations: Certain gene changes (e.g., CHD8, SHANK3, MECP2) are associated with autism. These may occur spontaneously (de
novo) or be inherited.
B. Environmental Factors
While genes provide a foundation, environmental exposures during critical developmental windows (mainly prenatal and perinatal)
can increase risk.
Maternal Infections During Pregnancy: Viral or bacterial infections (e.g., rubella, CMV) during the first or second trimester are linked to
higher ASD risk.
Advanced Parental Age: Especially paternal age >40 or maternal age >35 increases the chance of mutations or complications.
Low Birth Weight / Premature Birth: Infants born under 2.5 kg or before 37 weeks have a higher likelihood of neurodevelopmental issues.
Birth Complications:
• Lack of oxygen during birth (perinatal asphyxia)
• Prolonged labor or emergency C-sections
• Neonatal jaundice
Note: These risks do not directly cause autism but may contribute in combination with genetic vulnerabilities.
C. Brain Development Factors
Neuroimaging and postmortem studies show distinct differences in brain structure and function in individuals
with ASD.
• Abnormal Brain Connectivity: Some parts of the brain may be over-connected (hyperconnectivity), while
others are under-connected, affecting how different brain regions communicate.
• Early Brain Overgrowth: In some children with autism, brain volume is larger than average in early
childhood, particularly in areas related to social and communication processing.
• Cerebellum & Amygdala Alterations: Differences in regions responsible for motor control, emotional
regulation, and sensory processing.
What Does Not Cause Autism?
Despite popular myths and fears:
• Vaccines (including MMR) do not cause autism — this has been repeatedly debunked by large-scale global
research.
• Poor Parenting: The outdated "refrigerator mother" theory has been completely rejected.
• Screen Time: Excessive screen use can affect development in many ways but is not a cause of autism.
Comorbid Conditions in Autism Spectrum Disorder
1. ADHD (Attention-Deficit/Hyperactivity Disorder)
Clinical Overlap:ADHD and ASD both affect executive functioning, attention, impulse
control, and social awareness.
Children may:
• Show inattentiveness (e.g., not following through on instructions)
• Be hyperactive or impulsive (e.g., interrupting, fidgeting, unable to wait)
Why It Matters:
• Often leads to academic challenges, risk-taking behavior, and difficulty in therapy
compliance.
• ADHD may present before or alongside autism diagnosis.
Management: (BT) and parent management training (PMT)
Medications like methylphenidate, atomoxetine. ADHD medication may increase anxiety or
rigidity in some autistic children
2. Intellectual Disability (ID)
Significantly below-average cognitive ability (IQ <70) + difficulty in adaptive functioning
(communication, daily living, social skills).
Co-occurrence in ASD:More common in children with nonverbal ASD, global developmental
delay, or regression.
Clinical Signs: Poor problem-solving , Need for constant assistance in ADLs (Activities of Daily
Living), Limited verbal skills or symbolic play
2. Speech and Language Disorders in Autism
Speech and language delays or disorders are among the most common early signs seen
in children with Autism. While some children may not speak at all, others may have speech but
struggle with using it meaningfully in social settings.
•Early Signs: Delayed babbling or cooing, No meaningful words by 18–24 months, Loss of
previously acquired words (speech regression), Lack of pointing or gesturing to express
needs , Not using speech for social interaction, even if vocabulary is present
Types of Speech & Language Challenges in ASD
Expressive Language Delay: Difficulty in using words, phrases, or sentences to express
thoughts , Child may use very few words or speak only when prompted
Receptive Language Delay:Struggles to understand what others are saying , May not follow
commands like “Come here” or “Give me the ball
Echolalia:Repeating what others say, either immediately or after some time,
Pragmatic (Social) Language Disorder:Difficulty with using language in context —
greetings, turn-taking, emotions
Speech Sound Disorders:Words are mispronounced, Unclear speech, even if the child knows
what they want to say
Apraxia of Speech (in some children): A motor planning issue — child knows the word
but can’t coordinate the mouth movements to say it correctly , Speech is inconsistent,
effortful, and hard to understand.
Therapies & Support:
Speech-Language Therapy , Therapies & Support, Alternative and Augmentative
Communication, Parent Involvement
Speech delay is not always equal to autism, but in autism it is often part of a broader
pattern
3. Sensory Processing Disorder (SPD) in Autism : Sensory Processing Disorder (SPD) is
extremely common in children with Autism Spectrum Disorder (ASD). Research shows that up to
90% of autistic children have some form of sensory difficulty. These children either overreact or
underreact to everyday sensory experiences — such as sounds, lights, touch, smells, or
movement.
In autistic children, the brain may not process these signals in the usual way, leading to either:
Hyper-responsiveness (Over-sensitive) – child avoids sensory input(Covers ears, Avoids
grooming,
Refuses to wear certain clothes, Gets upset in crowded places)
Hypo-responsiveness (Under-sensitive) – child seeks more sensory input(Chews on clothes, toys,
pencils, or even fingers,
Spins, jumps, or rocks repeatedly , Doesn’t respond to name, pain, or injury — appears unaware,
Fascinated with lights or smells
Both can occur in the same child but with different senses (e.g., over-sensitive to sound but under-
sensitive to touch).
4. Epilepsy (Seizure Disorders)
• Clinical Features: May begin in early childhood or during adolescence.
Many children with Autism also have epilepsy.
Especially seen in children with:Delayed development , Intellectual disability , Sudden loss of
skills (like speech or play)
• Common Signs: Sudden body jerks or stiffness , Repeating movements (like lip-smacking),
Child loses skills they already had
• Diagnosis : Doctors use EEG (brain test) to check for seizures, MRI is done to see brain structure.
• Treatment : Seizure medicines (e.g., Valproate, Levetiracetam)
Need regular check-ups with a neurologist
Autism therapies continue along with seizure care
4. Anxiety & Depression :
Children may not verbalize worries but show:
Increased ritualistic behavior
Aggression, meltdowns, or isolation
Teenagers may experience: Social anxiety, low mood, suicidal thoughts
Common Triggers: Changes in routine, Sensory overload, Bullying or exclusion
Treatment:
Low-dose SSRIs under psychiatric guidance (e.g., fluoxetine)
Modified Cognitive Behavioral Therapy (CBT)
Structured routine and emotional coaching
5. Sleep Disorders Common Sleep Problems:
Sleep problems are very common in children with Autism.
Around 40–80% of autistic children have sleep issues.
This is called a comorbid condition — it means sleep disorder and autism happen together in
the same child
Common Sleep Problems in Autism
• Trouble falling asleep (takes 1–2 hrs to sleep)
• Waking up multiple times in the night
• Bedwetting or sleepwalking
• Daytime sleepiness or irritability
• Night terrors or screaming at night
Why Do These Happen?
Melatonin Imbalance – The brain chemical that controls sleep is often low in autistic kids.
Sensory Overload – Light, sound, or texture sensitivity can disturb sleep.
Impact on Child
Stomach Discomfort – Constipation or acid reflux also keeps them awake.
Daytime hyperactivity
Anxiety or Rigidity – Worrying about change in bedtime routines. Poor attention
Mood swings
Increased repetitive behaviors
Difficulty in learning
6. Motor Coordination Issues in Autism
A frequently co-occurring difficulty that affects movement, balance, posture, and fine motor skills
in children with ASD.
Neurological basis:
Autism affects the cerebellum, basal ganglia, and motor cortex — areas involved in planning,
coordination, and movement.
Children with ASD may have difficulty with:
Motor planning (praxis) – figuring out how to perform a movement
Sensory integration – using sensory input to guide movement
Low muscle tone (hypotonia) – resulting in floppiness and fatigue
Visual-motor coordination – poor eye-hand coordination
Motor deficits are not core features of ASD but are commonly associated, especially in children
with coexisting sensory or attention difficulties.
Examples:
Cannot ride a tricycle or bicycle
Stiff or awkward running posture
Avoids swings, climbing frames
Assessment Tools & Their Drawbacks in Autism Diagnosis
Accurate diagnosis of Autism Spectrum Disorder (ASD) requires a combination of tools, observations, and professional clinical judgment.
Various standardized tools are used at different stages of development to screen for autism, evaluate severity, and rule out comorbid
conditions. Each tool has its strengths and some limitations.
M-CHAT
It is designed for toddlers aged 16 to 30 months. This is a crucial stage when early social, communication, and play skills start developing,
making it the best time to catch red flags.
M-CHAT focuses on core social-communication milestones
The checklist includes 20 yes/no questions about your child's behaviors, such as:
• Making eye contact
• Pointing to show interest
• Pretend play (like feeding a doll)
• Responding when called by name
It helps to spot early signs of delayed or unusual development that may suggest autism.
Drawbacks & Limitations of M-CHAT
Although the Modified Checklist for Autism in Toddlers (M-CHAT) is a valuable early screening tool, it has certain limitations that must be
considered when interpreting results.
False Positives:M-CHAT may sometimes flag children as “at risk” even if they don’t have autism. This is known as a false positive result.
It often happens when the child has:
Delayed speech but good social engagement , Temporary shyness in new or clinical settings , Exposure to multiple languages (bilingual
homes), which can affect speech milestones
False Negatives: On the other hand, some children who do have autism may not be flagged by M-CHAT — especially those with milder
symptoms or those who are often called "high-functioning". This is known as a false negative. These children may:
Make good eye contact , Say a few words , Show no obvious repetitive behaviors
Cultural & Contextual Challenges
M-CHAT was originally developed in Western countries, and some of the behaviors it asks about may not be culturally relevant or
common in all regions, especially:
• Behaviors like pointing to show interest, pretend play, or bringing objects to share may not be encouraged or observed in some
rural or traditional Indian households.
• In low-literacy or rural settings, parents may:
Misunderstand the questions
Respond based on expectation rather than actual behavior
Feel confused about developmental norms, especially if they haven’t seen many other children
Requires Follow-Up
A Follow-Up Interview (M-CHAT-R/F) should be done by a trained health worker or psychologist to confirm risk.
If risk remains, the child should be referred for a detailed evaluation by a:Developmental pediatrician , clinincal psychologist , child
psychiatrist
Only after these evaluations can a diagnosis or early intervention plan be made
CARS (Childhood Autism Rating Scale)
The Childhood Autism Rating Scale (CARS) is a widely used diagnostic rating scale that helps assess the severity of autism spectrum
disorder (ASD) symptoms. It was developed to distinguish children with autism from those with other developmental delays. It involves
observing the child and scoring them on items like imitation, emotional response, and sensory responses.
Purpose and Use of the scale : Identify children with autism , Rate the severity of autistic behaviors,
Differentiate autism from other developmental disorders.
CARS consists of 15 behavioral domains, each reflecting a characteristic of autism.
Each item is scored from 1 to 4 (1 = no abnormality, 4 = severe abnormality), with half-points allowed (e.g., 2.5).
The areas assessed include: socialization, Imitation , Emotions , Body use , Object use , Adaptation ,
visual , listening to comprehension , sensory issues , Scared of things, verbal & non-verbal communication, activity level , level of
consistency. General impression
Total score ranges from 15 to 60, and the interpretation is as follows:
Non-autistic : Below 15-29.5 ; (15 – 27.5 for ages 13+)
Mild to moderate autism : 30–36.5 ; (28 – 34.5 for ages of 13+)
Severe autism : 37 & higher ; (35 & higher for age 13+)
Drawbacks and Limitations
• Needs a trained clinician : Scoring and interpretation must be done by someone experienced in autism spectrum disorders. Untrained use
may lead to incorrect conclusions.
• less Sensitive for High-Functioning ASD: The tool was initially developed for more classic/moderate autism cases, so it may: Miss
children with subtle symptoms , Be less accurate for children with average or above-average intelligence
Children with good eye contact, language, or milder social difficulties may not be flagged appropriately
• Limited for Very Young Toddlers : While it can be applied to children as young as 18 months, some early signs (like pretend play or
imitation) may not yet be clearly developed, making scoring more challenging.
• Cultural and Social Differences : Behaviors such as eye contact, pretend play, or parent-child interaction styles can vary across
cultures and rural settings, potentially affecting scoring accuracy.
Autism Diagnostic Observation Schedule(ADOS)
ADOS is a semi-structured, standardized assessment tool used to diagnose autism spectrum disorder (ASD) across all age groups. It is often
referred to as the “gold standard” in autism assessment because of its high reliability and structured methodology.
ADOS assesses a child’s communication skills, social interactions, play behavior, and restricted/repetitive behaviors through interactive
tasks and observations.
Age Group & Modules: ADOS can be used from 12 months to adulthood, with different modules selected based on the individual's age and
language ability:
• Toddler Module – For children aged 12–30 months who do not use consistent phrase speech.
• Module 1 – For individuals with no or very limited speech (typically toddlers and young children).
• Module 2 – For individuals who use phrase speech but are not fluent.
• Module 3 – For children and adolescents who are verbally fluent.
• Module 4 – For verbally fluent adolescents and adults.
Each module includes a structured series of tasks, such as pretend play, storytelling, or conversational games, designed to elicit behaviors
relevant to ASD diagnosis.
ADOS is designed to observe the core diagnostic features of ASD:
Eye contact , Use of gestures and facial expressions , Back-and-forth conversation , Social initiation and response ,
Play (especially symbolic play) , Repetitive or unusual behaviours , Sensory interests or aversions
Scoring is done using a standardized coding system, and results are interpreted to determine if the observed behaviors meet criteria for ASD.
Limitations
ADOS has some important limitations:
Time-Consuming:A full ADOS session can take 40–60 minutes or more , Scoring and
interpretation require additional time.
Costly:Requires purchase of materials and manuals , Trained professionals must administer it,
which can be expensive.
Not Standalone: ADOS should always be combined with parent interviews, developmental
history, and other tools like DSM-5 criteria or CARS for a complete diagnosis.
