2. DEFINITION
• Complex Neurodevelopmental disorder
• Key features
impairment in Social communication
Social interaction
accompanied by restricted repetitive
behaviours
4. CHANGES FROM DSM IV TO DSM5
• Currently DSM 5 is used for diagnosis of ASD
• Removal of the diagnostic subcategories
(Asperger’s disorder, childhood disintegrative
disorder, &Rett’s disorder)
• Change in the terminology from pervasive
developmental disorder-not otherwise
specified (PDD-NOS) to Autism spectrum
disorder
5. Continued......
• Reduction in diagnostic domains from 3 to 2
by merging social & communication domain
into single category
• Inclusion of sensory processing abnormalities
for diagnosis
• Classification of ASD based on severity
7. ETIOLOGY
• Etiology of ASD remains complex and
multifactorial with interplay of
Genetics
Epigenetics
Environmental factors
8. Continued.....
• Various theories proposed to explain
pathophysiology of ASD
* The theory of mind
* The theory of impeded brain plasticity
*Excitation &inhibition dysregulation in
neuroapsesnal synapses
*Dysfunction in mirror neuron system
9. DSM 5 CRITERIA FOR ASD
• PERSISTENT DEFICIT IN SOCIAL COMMUNICATION
AND SOCIAL INTERACTION ACROSS MULTIPLE
CONTESTS currently or history
• Restricted , repetitive patterns of
behaviour, interests , or activities
• Symptoms must be present in early
developmental period( may not manifest until
social demand exceeds until capacity,& may
masked by ; learning strategies in later life)
10. Continued....
• Symptoms should cause clinically significant
impairment in social, occupational (or) other
important areas of current functioning
• These disturbances are not better explained
by intelectual developemental disorder (or)
global developemental delay
11. PERSISTENT DEFICIT IN SOCIAL
COMMUNICATION AND SOCIAL INTERACTION
ACROSS MULTIPLE CONTESTS currently or history include :
• Deficit in social emotional reciprocity
• Deficit in non verbal communicative
behaviours
• Deficit in maintaining , developing,
&understanding relationship
12. SOCIAL EMOTIONAL RECIPROCITY
(reduced social interaction)
• Ranges from activity avoidance or reduced social
response
• Lacking ability to initiate or sustain an interaction i.e.
*May not respond when his name is called
*May exhibit limited showing (or) sharing
behaviour
*May prefer solitary play
*May avoid attempts by others to play
*May not participate in activities that require taking
turns & trouble with rules
13. DEFICIT IN NON VERBAL
COMMUNICATIVE BEHAVIOURS
• USED FOR SOCIAL INTERACTION
• Reduced eye contact and pointing gesture
• Reduced awareness or response to eye gaze
(or) pointing of others
• Feels difficulty in engaging in groups
14. Restricted, Repetitive patterns of
behavior , interests, or activities
(AT LEAST 2 OF THE FOLLOWING)
• Stereotyped or repetitive
motor movements, use of
objects, or speech
• Insistence on sameness,
inflexible adherence to
routines, or ritualized
patterns or verbal
nonverbal behavior
• Example: lining up of
materials, repetitive
phrases or questioning,
repetitive movements –
flapping
• Must sit in same seat, be
first in line, difficulty in
transitioning between
activities like play ground
to class, difficulty with
changes in routine like
substitute teacher
15. Continued....
• Highly restricted , fixated
interests that are
abnormal in intensity or
focus
• Hyper or hypo reactivity
to sensory input or
unusual interests in
sensory aspects of the
environment
• Really likes unusual
objects, hyper focused on
particular interest, play
with limited range of toys,
limited range of interests
• Over sensitive to sensory
inputs such as smell,
noise, texture, may hate
certain foods or odours,
feel distress after hearing
some sounds, may refuse
to wear certain dresses
17. DIFFERENTIAL DIAGNOSIS
• LANGUAGE DISORDER
• HEARING LOSS
• SOCIAL COMMUNICATION DISORDER
• INTELLCTUAL DISABILITY OR GLOBAL
DEVELOPMENTAL DELAY
• ADHD
• LANDAU KLEFFNER SYNDROME(LKS)
18. SCREENING
• SCREENING IS DONE WHEN THERE IS
INCREASED RISK FOR ASD SUCH AS a child
with an older sibling who has ASD, or concern
for possible ASD
• Screening can be done by parent checklist or
direct assessment
• Most frequently used screening tool is THE
MODIFIED CHECKLIST FOR AUTISM, REVISED /
FOLLOWUP (MCHAT-R/FU)
20. CONTINUED......
• Can be used from age 16 to 30 months
• For items 2,5,&12 YES indicates ASD risk
• For remaining items NO indicates ASD risk
• LOW RISK – if score is 0 – 2; if child is <24
months screen after second birthday. No
further action required unless surveillance
indicates risk for ASD
21. Continued....
• Medium risk – 3 to 7 score. If MCHAT Score is
2 or above the child screened positive. Action
required is refer child for diagnostic evaluation
and eligibility evaluation for early
intervention.
• High risk – 8 to 20 score. Refer immediately
for diagnostic evaluation and eligibility
evaluation for early intervention
22. ASSESSMENT
• INCLUDES DIRECT OBSERVATION to evaluate
social skills & behaviour
• Autism Diagnostic Observation Shedule,
Second edition (ADOS-2)
• Autism Diagnostic observation schedule,
toddler module (ADOS-T)
• The Childhood Autism Rating Scale, second
edition (CARS-2) is 15 item direct clinical
observation instrument that can assist
clinician in the diagnosis of Autism
23. Medical and Genetic Evaluation of Children With
Autism Spectrum Disorder
• Physical examination:
dysmorphic physical features
Muscle tone and Reflexes
Head circumference
Wood lamp Examination for tuberous sclerosis
• Diagnostic testing:
Chromosomal micro array (CMA) in all individuals
fragile X DNA test in males
Audiology evaluation
Lead test in children with pica
24. Continued....
Additional targeted Genetic testing
• MECP2 sequence in females
• PTEN mutation testing if head circumference
> 2.5 SD above the mean
• MECP 2 deletion or duplication testing in
males with significant developmental
regression , drooling, respiratory infection,
and hypotonia
25. Additional targeted diagnostic testing
• EEG in children with seizures, staring spells, or
developmental regression
• Brain MRI in children with microcephaly, focal
neurologic findings, or developmental
regression
• Metabolic testing in children with hypotonia,
seizures, hearing loss, ataxia and coarse facial
features
26. Treatement & Management
• The primary treatment for ASD is done out
side the medical setting includes
developmental and educational programming
• The most important therapy is intensive
behavioural therapies
• Earlier age at initiation of treatment and
higher intensity of treatment –better out
come
• Programme must be individualized
27. Continue....
• Behavioural approaches based on the
principles of applied behavioural analysis-
teaching of skills in traditional behavioural
framework, careful data collection, analysis,
and adjustment of treatment
• Educational approaches such as The
Treatment and Education of autistic and
communication Handicapped children
(TEACCH) – structured teaching & adjustment
of environment according to individual needs
28. Continued....
• Speech and language therapy
• Augmentative communication approaches by
using pictures and icons
• Social skill programs
• For some high school children training in life
skills and vocational skills for maximizing
independence in adulthood
29. Pharmacology
• There are currently no medications that treate the core
symptoms of ASD
• Medications can be used to target specific co occurring
conditions or symptoms
• For Hyperactivity and/or inattention- Selective
norepinephrine reuptake inhibitors, & alpha 2 agonists
• For Anxiety – selective sertonin reuptake inhibitors
• For Irritability – Atypical antipsychotics
• For Insomnia - Melatonin
30. OUTCOME
• Autism spectrum disorder is a life long
condition
• Many adults with ASD are socially isolated,
lack of gainful employment, or independent
living
• Have higher rates of depression and anxiety
