Learning Objectives

1. What is Autism Spectrum Disorder (ASD)?

2. How to diagnose ASD?
3. Tools used for diagnosis (according to Gazette)
4. Disability certification
a. Disability calculation
b. Medical Authority
c. Validity
5. Case Study

1. What is Autism Spectrum Disorder (ASD)?

Autism Spectrum Disorder is a lifelong neurological condition typically appearing in

the first three years of life that is marked by pervasive impairments in the areas of
social skills and communication, often associated with hyper-or- hypo-reactivity to
sensory input; unusual interest in stereotypical rituals or behaviors; and may or may
not be accompanied by intellectual impairment.

Epidemiology

Centres for Disease Control and Prevention (CDC) based on data from 11 ADDM
Network sites, estimated in 2023 a prevalence of 27.6 per 1000 which would translate
to 1 in 36 children having autism. Further, ASD was found to be 3.8 times more
prevalent in boys. The INCLEN study in 3964 Indian children from 5 different
regions in India, estimated prevalence of all NDDs to be around 12% in children aged
2 to 9 years and found ASD prevalence to be 1 in 89 overall. Approximately one third
of patients with ASD have ID, as many as 50% have associated ADHD and 30% have
epilepsy.

Early clinical features

The initial signs of autism in children are understated and typically come to attention
and assessment when parents observe delays in language development and unusual
behaviors. Based on early clinical features, two major groups have been identified:
one with early delay and another with regression after a period of relatively normal
 development. Both groups exhibit similar severity of symptoms by the age of 24
months. Various early clinical features include -

 Lack of social smile

 Absence of stranger anxiety

 Absence of direct eye contact with parents

 Absence of response to name

 Impaired communication gestures

 Delayed onset of babbling

 Feeding problems

Table 1- Early Red Flags of ASD

Early Red Flags of ASD
Avoids or does not keep eye contact
Does not respond to name by 9 months of age
Does not show facial expressions like happy, sad, angry, and surprised by 9 months of age
Does not play simple interactive games like pat-a-cake by 12 months of age
Uses few or no gestures by 12 months of age (for example, does not wave goodbye)
Does not share interests with others by 15 months of age (for example, shows you an
object that they like)
Does not point to show you something interesting by 18 months of age
Does not notice when others are hurt or upset by 24 months of age
Does not notice other children and join them in play by 36 months of age
Does not pretend to be something else, like a teacher or superhero, during play by 48
months of age
Does not sing, dance, or act for you by 60 months of age

Screening for ASD

All children should be screened for ASD at 18 and 24 months. Further, in presence of
the above-mentioned red flags, and in children with delay in language/communication
milestones, those with regression in social or language skills and if caregiver are
raising concern for ASD at any time, the child should be screened for ASD. The
different screening tools for ASD are summarized in the Table 2

Table 2 - Screening Tools for ASD

International screening tools International screening tools Indian screening tools
For < 3-year-old children For >3-year-old children

 Modified Checklist for Autism in  Social Communication  Chandigarh Autism

Toddlers, Revised with Follow-Up Questionnaire Screening Instrument
 Screening Tool for Autism in
Toddlers and Young Children  Autism Spectrum  Indian Autism Screening
(STAT) Screening Questionnaire Questionnaire (IASQ)
 Infant-Toddler Checklist
 Early screening for autism and  AQ-Child  AIIMS Early Autism
communication disorders Screening Tool (0-18
 First Year Inventory months)
 Parent's Observations of Social
Interactions
 Rapid interactive screening test for
autism in toddlers (RITA-T)
 Ages and Stages Questionnaire
(ASSQ)
 Parents’ evaluation of
developmental status(PEDS

Comorbidities with ASD

ASD is associated with various co-morbidities and three-fourth have at-least one
associated comorbidity. Screening for and addressing these accompanying conditions
is essential to provide comprehensive care for individuals with ASD. The prevalence
of common co-morbidities is discussed below:

 Epilepsy: Around 10% prevalence overall and higher prevalence rate among

adults with autism spectrum disorder.

 Attention-deficit/hyperactivity disorder (ADHD): It is the most common co-

morbidity associated with ASD. Lifetime prevalence rate of around 40% in

children with ASD.

 Anxiety disorder: Anxiety in autistic children can be specific, social or a

generalized anxiety disorder. Prevalence rates vary from 1.6 to 62%.

 Obsessive- compulsive disorder: Much higher prevalence in comparison to the

general population and estimated around 17% in children with autism.

 Intellectual disability (ID): Around 70% of individuals diagnosed with ASD

experience varying degrees of intellectual disability and the two entities share

varied genetic aetiologies with many candidate genes.

 Learning disability (LD): Prevalence rates range between 60%–70%.

 Sleep disorders: Around 75% of children with ASD encounter sleep

disturbances. Typical sleep problems in autistic children encompass

diminished sleep efficiency, shorter periods of rapid eye movement and slow-

wave sleep, as well as an elevated desaturation index.

 Other common related disorders in children with autism include depression,

motor delay, tic disorder, bowel and bladder symptoms, and oppositional

defiant disorder.

Figure 1 – Comorbidities in ASD

Epilepsy
Intellectual
disability (ID) ADHD

Learning
ASD Sleep problems
disability

Others
Depression, motor
delay, tic disorder,
Obsessive-
bowel and bladder compulsive
symptoms, and
oppositional defiant disorder
disorder Anxiety
disorder

Differential Diagnosis for ASD

 Social (pragmatic) communication disorder (SCD)

  Intellectual Disability

 Epileptic Encephalopathy eg. Landau Kleffner syndrome/

 Undiagnosed hearing impairment

 Attention Deficit Hyperactivity Disorder (ADHD)

2. How to diagnose?
The clinical diagnosis of autism spectrum disorder relies on both the child's
behavioral observations and their medical history. The Diagnostic and Statistical
Manual of Mental Disorders, Fifth Edition (DSM-5), published in 2013, provides the
diagnostic criteria for this disorder. The DSM-5 guidelines for ASD consist of two
main categories: challenges in social communication and interaction, as well as
limitations in behavior, activities, and interests that are repetitive and restricted which
should negatively impact a child's functioning, emerge during the early stages of
development, and not be more appropriately attributed to intellectual disability or
global developmental [Link]-5 diagnostic criteria and the associated clinical
features are depicted in Table 3.

Table 3 - DSM-5 diagnostic criteria for autism spectrum disorder and clinical features
1 Persistent challenges in social communication and interaction across multiple settings
and manifested currently or by history. All three of the following must be present:
A. Deficits in social-emotional reciprocity. The spectrum of difficulties can include
abnormal social approaches and a failure to engage in typical reciprocal
conversations, as well as a decrease in sharing interests, emotions, or
expressions. Additionally, it may involve challenges in initiating or responding
to social interactions.

B. Impairment in nonverbal communicative behaviour. The range of challenges

can include difficulties in integrating verbal and nonverbal communication
effectively, abnormalities in eye contact and body language, as well as deficits
in understanding and utilizing gestures. At the extreme end, it may involve a
total lack of facial expressions and nonverbal communication.
 C. Challenges in forming, sustaining, and comprehending relationships. The
challenges can range from finding it difficult to adapt behaviour to different
social contexts, facing difficulties in participating in imaginative play or
building friendships, to displaying a lack of enthusiasm in interacting with
peers.
2 Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at
least two of the following, currently or by history:

A. Engaging in repetitive motor stereotypies, object manipulation, or speech, like

simple motor stereotypies, arranging toys in a line, flipping objects, echoing
speech, or using unique phrases.
B. Demonstrating a pronounced insistence on sameness, inflexibility towards
routines, or participating in ritualized patterns of verbal or nonverbal conduct.
This might include experiencing significant distress over minor changes,
encountering challenges with transitions, inflexible thinking patterns, adhering
to specific greeting rituals, or maintaining the same daily routes and dietary
preferences.
C. Displaying highly limited and fixated interests that are unusually intense or
focused. This could involve a strong attachment to or preoccupation with
uncommon objects, exceedingly narrow or persistent interests.
D. Showing heightened or diminished responsiveness to sensory stimuli or
revealing an unusual fascination with sensory aspects of the environment. This
could encompass apparent indifference to pain or temperature, adverse reactions
to particular sounds or textures, excessive smelling or touching of objects, or a
visual captivation with lights or motion.

3 The symptoms described should be evident or observed during the early developmental
period.
4 The outlined symptoms result in notable hindrance in current social, occupational, or
other crucial domains of functioning.
5 These disturbances cannot be attributed to intellectual disability or global
developmental delay as the primary cause.

3. Tools used for diagnosis (according to Gazette)

The diagnosis of autism spectrum disorder will be established by the DSM-5-based
AIIMS-modified INCLEN diagnostic tool for ASD (Appendix- XI). The Indian Scale
of Assessment of Autism will be utilized for the calculation of disability among
children ≥6 years. (Appendix XII)

AIIMS-modified INCLEN diagnostic tool for ASD

This tool was developed and validated at AIIMS, New Delhi and is a simple and
structured instrument based on DSM-5 criteria for ASD with acceptable diagnostic
accuracy. The questions are divided into sections A1a, A1b, A1c representing social-
emotional reciprocity, nonverbal communication and relationships respectively and
Sections A2a, A2b, A2c and A2d representing stereotyped movements, routines, fixed
interests and sensory symptoms respectively. Diagnosis of ASD is based on
fulfilment of all sections A1a, A1b, A1c along with 2 out of 4 items from A2a, A2b,
A2c and A2d, with onset in early developmental period and symptoms resulting in
impaired functioning. The details regarding its application and interpretation are
elaborated in Appendix XI. Figure 2 demonstrates the analysis and interpretation of
the tool.

Figure 2A- Analysis and interpretation of the AIIMS-modified INCLEN diagnostic

tool for ASD
Figure 2B - Analysis and interpretation of the AIIMS-modified INCLEN diagnostic
tool for ASD

Figure 2C- Analysis and interpretation of the AIIMS-modified INCLEN diagnostic

tool for ASD
 Indian Scale of Assessment of Autism (ISAA)

This tool was developed by National Institute for Mentally Handicapped (NIMH) in
2009 for diagnosis and severity assessment and to enable measurement of associated
disability. It is based on CARS and takes 20-30 minutes for its application. 40 items
divided under six domains, rated on a 5-point scale ranging from 1 (never) to 5
(always), divided into 6 domains. The details regarding its application and
interpretation are elaborated in Appendix XII. Figure 3 demonstrates the
interpretation of the tool.

Figure 3 - Interpretation of Indian Scale of Assessment of Autism (ISAA)

4. Disability certification
Disability Calculation
 Children <6years
 All children with an autism spectrum disorder in the age group <6 years will
be assessed and given the disability of 60 to 79% (Moderate Autism). They
will be re-assessed at the age of ≥6 years for severity-based disability
calculation as per Indian Scale of Assessment of Autism(Appendix- XII).
 Children/ adolescents ≥6 years
The severity-based disability calculation for autism spectrum disorder will be
based on the Indian Scale of Assessment of Autism. The disability levels will
be as per Table 2.

Table 4 - Disability percentage for children with autism spectrum disorder

Medical Authority:

The Medical Superintendent, Chief Medical Officer, Civil Surgeon, or any other
equivalent authority, as notified by the State Government, shall be the head of the
Medical Board. The Board shall comprise of:

I. Medical Superintendent, or Chief Medical Officer, or Civil Surgeon or any other

equivalent authority as notified by the State Government
II. Pediatrician or Pediatric Neurologist (where available) or Developmental
Pediatrician (where available) or physician if age >18 years (MD Internal
Medicine or Family Medicine)
III. Psychiatrist or Child and Adolescent Psychiatrist (where available)
IV. Psychologist (Clinical/ rehabilitation)

Note* - In view of shortage of the specialist doctors resulting in huge pendency in

disability assessment, the chairperson (Who compulsorily has to be a Government
Doctor e.g. Chief Medical Officer or Civil Surgeon or as specified) of the disability
assessment board may, if required, include private medical practitioner(s) (duly
qualified in the respective medical domain) as a board member.
Validity of Certificate:

 Children <6 years:

For children certified below the age of six years, the certificate will be
temporary. These children will need reassessment between the age of 6 and 7
years for re-certification and calculation of disability.

 Children ≥6 years and <18 years:

For children who are more than 6 years and less than 18 years, the validity will
be as below:

After initial certification where a disability of > 40% has been certified,
reassessment and re-certification will be done at the age of 18 years. The
certificate issued at 18 years of age will be valid lifelong.

 Adolescents ≥18 years:

For patients >18 years, the disability certificate issued after the age of 18 years
will be permanent.

Algorithm of Disability Certification

 5. Case Study
Master AP, 7 years/ Male, was diagnosed with ASD and referred for disability certification.
On detailed evaluation by a pediatrician, it was found to that the child had no h/o adverse
perinatal events. The child attained age appropriate motor milestones but had isolated
language delay at onset. Age at which symptoms were recognised was around 1.5 years with
h/o poor social interaction with poor eye contact, hyperactivity, motor stereotypies and
repetitive behaviour present. No h/o atypical regression. Behavioural intervention advised.
Continued on behavioural therapy. No sleep disturbances. No h/o clinical seizures, physical
/locomotor disability, visual or hearing impairment. On physical examination, child had no
neurocutaneous markers or facial dysmorphism. No vision or hearing impairment or
locomotor disability, with normal tone and deep tendon reflexes.

Evaluation by a child psychologist showed DQ of 72 on VSMS, Child satisfied the AIIMS

modified INCLEN for diagnosis of ASD and the ISAA score was 92.

Final Diagnosis – Autism Spectrum Disorder (ASD)

Percentage Disability - 60%