Moving from Surviving to Thriving.

This year's theme, championed by the United Nations,

emphasizes the importance of shifting the focus from simply coping with autism to creating
an environment where autistic individuals can flourish. This includes ensuring access to

AUTISM SPECTRUM DISORDER

PREVALENCE

United states 14.6/1000

United Kingdom 9.8/1000

India 14/10000(rural) to 12/10000(urban)

Study conducted in CDC Kerala in urban children 0-6 years -17/101438

About 1 in 54 children identified with ASD (C D C, Autism and Developmental

Disability Monitoring Network)
• ASD is 4 times more prevalent in boys than girls.

• Prevalence increased in siblings

• No racial or ethnic differences

Definition

 Autism Spectrum Disorder is a neuro biologic disorder with onset in early

childhood

Key features

 Impairment In Social Communication And Interaction

 Restricted And Repetitive Behaviours

DSM 5 diagnostic criteria

A. Persistent Deficits In Social Communication And Social Interaction Across Multiple

contexts, as manifested by

1. Deficits In Social Emotional Reciprocity

2. Deficits In Non Verbal Communicative Behaviours

3. Deficits In Developing, Maintaining And Understanding Relationships

DSM 5 diagnostic criteria

 B. Restricted , Repetitive patterns or behaviour, interests or activities

as manifested by at least 2 of the following

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

• 2. Insistence on sameness

Inflexible adherence to routines

Ritualised patterns of verbal and non verbal behaviour

3. Restricted fixated interests that are abnormal in intensity or focus

4. Hypo/hyper reactivity to sensory input or unusual interest in sensory aspect of

environment.
To be called ASD

• Symptoms must be present in the early developmental period

• Symptoms cause clinically significant impairment in social ,occupational and

other areas of current functioning

• These disturbances are not better explained by intellectual disability or global

development delay
ETIOLOGY

• Disrupted neural connectivity & genetic variations affecting early brain

development

• Change in brain volume and neural cell density in limbic system, cerebellum and

frontotemporal regions

• Hyperexpansion of cortical surface area leading to impaired social skills

Environmental contributions to ASD

• Older maternal or paternal age

• Maternal obesity

• Short interval from prior pregnancy, premature birth

• Congenital infections(rubella,cmv)
SPOKEN LANGUAGE DEFICITS

• Delay in babbling

• <10 words by 2 year

• Unusual vocalisation in speech

• Echolalia

• Infrequent use of language for communication

DEFICITS IN
RESPONDING TO OTHERS
 Absent or delayed response to name being called

 Reduced or absent responsive social smiling

 Reduced or absent responsiveness to facial expressions and feelings

 Unusually negative response to request of others

 Rejection of cuddles by the parent

DEFICITS IN SOCIAL INTERACTION

• Reduced awareness of personal space

• Reduced social interest in others including children of own age

• Reduced imitation of others actions

• Reduced initiation of social play

• No participation in activities that require turns like peek –a-boo, ball play

• Reduced or absent sharing of enjoyment-

Eye contact, Pointing and Gestures

• Reduced or absent use of gestures and facial expressions to communicate

• Reduced body orientation,eye contact and speech in social communication

• Reduced joint attention

• Reduced pretend play

Restricted interests
Rigid and repetitive behaviour

• Stereotyped motor movements like hand flipping , body rocking , spinning , finger

flicking

• Sterotyped play:eg- opening and closing doors

• Excessive insistence on following own agenda

• Extremes of emotional reactivity to change or new situations

• Overreaction or underreaction to sensory stimuli-textures/sounds/smell

EARLY MARKERS OR RED FLAGS
6-12 MONTHS

• Infrequent eye contact

• No babbling

• Failure to orient to name

• Does not smile in response to smile from others

• Social and emotional passivity

• Fixation on objects

• No gesturing
RED FLAGS BY 16 MONTHS

 No single words by 16 months

 No pointing to objects or events

 No interest in an effort to share

Co-occurring Conditions

• Intellectual disability 45%

• Language disorders

• Attention deficit hyperactivity disorder 28-44%

• Tic disorder 14-38% (Tourette syndrome 6.5%)

• Motor delay, hypotonia , catatonia & deficits in coordination

• Epilepsy 8-35%
CO-OCCURING DISORDERS

• Anxiety, depression , OCD

• Behavioural, personality & eating disorder

• Gastrointestinal problems - chronic constipation, chronic diarrhoea, GERD

• Immune dysregulation - 38%

• Insomnia
GENETIC DISORDERS
-SYNDROMIC AUTISM

• FRAGILE X SYNDROME (21-50% have autism)

• RETT syndrome(most have autistic features)

• Tuberous sclerosis complex (24-60%)

• Down syndrome (5-39%)

• Phenyl ketonuria(5-20%)

• Angelman syndrome(50-81%)

• Timothy syndrome (60-70%)

• Jouberts syndrome(40%)
SCREENING

• AAP recommends screening for ASD for all children at age 18 months and 24

months

• Screening should occur when there is an older sibling who has ASD or concern

for possible ASD

Methods of screening

Screening can be done by parent checklist or direct asses

1. Modified Checklist for Autism - Revised /Follow up Interview(MCHAT-R/FU)

Most frequently used.

20 item parent report measure

Used from 16-30 months

2. Trivandrum Autism Behaviour Checklist (TABC)

performed at 18 months
 ASSESSMENT OF AN AUTISTIC CHILD

• Medical evaluation –head circumference, dysmorphism, muscle tone& reflexes

• Detailed development assessment

• Communication skills assessment - Verbal, nonverbal, prosody

• Social skills assessment - Social interaction, family attachment

• Intellectual ability

• Behavioral assessment

• Family assessment
ASSESSMENT TOOLS(DIAGNOSTIC)

• AUTISM DIAGNOSTIC OBSERVATION SCHEDULE ;ADOS-2 & ADOS- T(Toddler

Module)-structured play based assessments

• CARS 2 - 15 item direct clinical observation instrument

• ADI-R(AUTISM DIAGNOSTIC INTERVIEW REVISED)

• INDT-ASD(INCLEN DIAGNOSTIC TOOL FOR ASD )developed in India for children

2-9 years, high diagnostic accuracy

Diagnostic Testing

• Chromosomal MicroArray in all individuals(10 -15 % of individuals with ASD)

Fragile X DNA Test in males
• Audiology evaluation
• Genetic tests
MeCP2 gene mutation in girls with ASD
MeCP2 gene deletion/duplication test in boys with hypotonia, drooling and
respiratory infections
PTEN mutation- ASD with head circumference >2.5 SD
Additional Targeted Diagnostic Testing

• EEG –seizures , staring spells , developmental regression

• Brain MRI –microcephaly , focal neurologic findings , regression

• Metabolic testing in children with development regression , hypotonia , seizures ,

hearing loss , ataxia

 The most important
therapy is:

early individualized intensive behavioural intervention provided to all young

children at the onset of symptoms
PLAY THERAPY &GROUP THERAPY
Encouraging pretend play
Sensory integration therapy
SPEECH THERAPY
 OTHER
APPROACHES
•Educational approach –TEACCH

•Augmentative communication
approaches

•Social skills program

•Parent training interventions

Drug therapy- a present & future perspective
Symptom specific therapy
“ Take Home Message

Early diagnosis and intervention: Early intervention programs can significantly improve
outcomes for autistic children.Quality education: Inclusive education settings that cater to
individual needs are crucial for success.

”
Supportive employment: Creating opportunities for meaningful employment fosters
independence and self-esteem. Mental health support: Autistic individuals are more prone to
anxiety and depression. Access to mental health services is essential.