Autism

Spectrum
Disorder
Definition
The autism spectrum disorder (ASD) represent a wide continuum of
associated cognitive and neurobehavioral deficits, including deficits in
socialization and communication ,with restricted and repetitive patterns
of behaviour.
Epidemiology
• The prevalence of autism has increased from 4 per 1000 before 1991
to 14 per 1000 or 1 in 68 children in 2010

• Recent data from India(INCLEN studies) suggest prevalence between

0.4 and 1.2%

• Over time diagnostic criteria have broadened up and more recent

surveys have included the broader definition .
• Increasing public awareness among parents and teachers as well
as availability of services.

• Earlier age at diagnosis and population based screening.

• male : female ratio is estimated to be 4 : 1

Etiology
Largely unknown

• Siblings: 20 times more likely (polygenic)

• concordance rate (37-90%) in twin studies

• Closer spacing of pregnancies

• advanced maternal or paternal age

• extremely premature birth (<26 wk gestational age)

• family members with learning problems, psychiatric disorders, and social

disability
Exposures early in the 1st trimester of pregnancy thalidomide, misoprostol,
rubella infection, valproic acid, and the organophosphate insecticide .

Prenatal folic acid supplementation may reduce the risk of ASD.

Measles-mumps-rubella vaccine or the thimerosal preservative as a causative

factor : no evidence

Postulated that autism shared genetic cause

• Fragile X( autism+ ID/GDD)
• Tuberous sclerosis
• Phenylketonuria
• Rett (Autism+regression)
Neuropathology factors
• Head circumference normal or slightly smaller than normal at birth
until 2 mo of age.

• show an abnormally rapid increase in head circumference from 6-14

mo of age, increased brain volume in 2-4 yr old

• Early, accelerated brain growth during the first several years of life is
followed by abnormally slow or arrested growth, resulting in areas of
underdeveloped and abnormal circuitry in parts of the brain.

• Areas of the brain responsible for higher-order cognitive, language,

emotional, and social functions are most affected.
Clinical features
Social problems
• Most universal, specific characteristic of ASD

• Lack joint attention

• Cannot correctly assign motives, understand someone’s goals, difficulty participating

in spontaneous symbolic play

• Pay proportionately less attention to people than objects

• Tend not to point, show objects – attention-sharing behaviors

• Do not seem to recognize emotions (facial expression, gesture, nonverbal

vocalizations of emotion)
Restricted, Repetitive Behaviors

• Verbal and nonverbal repetitive, stereotyped behaviors

Four subdomains:
• Motor stereotypies – lining things up, flipping things, step counting, unusual
responses to sensory input, rocking
• Some of these may be common in young children – clinicians must look at the
number and intensity of behaviors
• Tend to emerge early in life but are somewhat malleable
• Most common subdomain
• Rituals and sameness –Prevalent in about 25% of ASD population
• Develop later than motor type, stable throughout life
• Circumscribed interests – highly fixated or unusual interests
A particular movie, cartoon character, topic, the phone book, shoe size
• Self-injurious behavior – hand flapping, hitting
• Present in other disorders
• More common in ASD than general population
DSM-V Criteria
• Criterion A: Persistent deficits in social communication and
interaction
• Can include social-emotional reciprocity, nonverbal communicative
behaviors, developing/maintaining relationships
• Criterion B: Restricted, repetitive patterns of behavior
• Repetitive motor movements (rocking), ecolalia, insistence on
sameness and a routine, highly restricted, fixated interests, unusual
interest in sensory aspects of the environment
• Symptoms must be present in early developmental period and cannot
be better explained by intellectual disability or global developmental
disability
• 3 levels of severity
DSM-V Criteria
A. Persistent deficits in social communication and social interaction across
multiple contexts, as manifested by the following, currently or by history:
1. Deficits in social-emotional reciprocity.
2. Deficits in nonverbal communicative behaviors used for social interaction.
3. Deficits in developing, maintaining, and understanding relationships.

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

manifested by at least two of the following, currently or by history:
1. Stereotyped or repetitive motor movements, use of objects, or speech.
2. Insistence on sameness, inflexible adherence to routines, or ritualized
patterns of verbal or nonverbal behavior.
3. Highly restricted, fixated interests that are abnormal in intensity or focus.
4.Hyper- or hyporeactivity to sensory input or unusual interest in sensory
aspects of the environment.
C. Symptoms must be present in the early developmental period (may
not become fully manifest until social demands exceed limited
capacities, or may be masked by learned strategies in later life).

D. Symptoms cause clinically significant impairment in social,

occupational, or other important areas of current functioning.

E. These disturbances are not better explained by intellectual disability

(intellectual developmental disorder) or global developmental delay.
Screening
Development surveillance should be conducted at all well child visit .
Red flag signs : prompt evaluation
No vocalisation by 6 months
No polysyllabic consonant babbling by 12 months
No gesture by 12 months (any use of hand over hand is a hallmark)
No spontaneous (not echoed) single word by 16 months other than
mama dada
No spontaneous (not echoed) phrases by 24 months or sentences by 36
months
Any loss of social communication abilities ,including babbling, single
words , phrases ,respond to name ,social engagement and gesture
Autism screen at 18 and 24 month

Screening tools
<3 y: M-CHAT R/F (Modified checklist for autism in toddlers revised
with interview )
2 stage
• Parent questionnaire
• Interview

>3y: SCQ (Social communication questionnaire)

Assessment – ADI-R
• Gold Standards are Autism Diagnostic Interview – Revised (ADI-R)
and Autism Diagnostic Observation Scale (ADOS)

• ADI-R is semi-structured interview for caregivers

• 93 items, about 2 hours
• Based on DSM-IV criteria (Communication difficulties, social
reciprocity, restricted, repetitive behaviors)

ISAA: Indian scale for assessment of autism

• Objective tool
• 40 items with 5 point scale (never to always)
Assessment - ADOS
• Observational
• Can be used in nonverbal 2-year-olds – verbal adults
• 4 Modules:
• Pre-Verbal-Single Words
• Phrase speech
• Fluent Speech
• Activities for daily living, plans, hopes
Onset and Course
• Symptoms are usually noted first in 12-24 months
• Delayed language, odd play patterns, lack of social interaction
• Pay attention to type, frequency, intensity of symptoms

• Can experience developmental plateaus or regression

• Rarely a severe regression after 2 years of normal development
• Prevalence of regression 30%
Common Comorbidities
• 70% of ASD individuals have one comorbid disorder, up to 40% may
have 2 or more (DSM-V)

• Medical conditions such as epilepsy and sleep problems somewhat

common

• Comorbid diagnoses of ADHD, anxiety and depressive disorders, and

developmental coordination disorder seen
Work up
1.Audiology evaluation

2. Electroencephalography and MRI

• ASD people unlikely to show more EEG abnormalities than the
normal population
• MRI: nonspecific and not particularly helpful
Treatment
Applied Behavior Analysis
• Gold standard
• Based on behaviorism
• Uses positive reinforcement to decrease maladaptive and
unwanted behaviors, increase adaptive behaviors
• Uses negative reinforcement/negative punishment when necessary
(rarely)
• Treatment can begin when children are as young as 3
• In severe cases, focus is on compliance
• Intensive (20-40 hours/week), one-on-one format
• Targets a wide range of skills
• Includes parents (and important others when possible –
siblings, teachers, etc.)
Medication
• Pharmacological interventions have a limited role

• Tricyclics and SSRI’s seem to decrease hyperactivity,

anger, and compulsions

• Neuroleptics may be effective in reducing hyperactivity,

impulsivity, aggressiveness