1. Autism

2. CASE
Marrie at 24 months presented with severe deficits with social-emotional
engagement, ignoring communication attempts by others and closing
circles of communication with avoidance and by increasing physical
distance from others.
Socially/emotionally, marrie was easily overwhelmed, was frustrated by
daily activities, did not transition smoothly from one activity to another,
lacked confidence with new environments and new tasks, lacked
independence, was “needy,” had low self-esteem, and was impulsive. She
had poor short term memory, could not sequence tasks, and often failed to
begin or to complete tasks or projects unless assistance was provided.
She had difficulty finding clothes and getting dressed in the morning and
preferred to avoid planning due to difficulty with tasks.
Doctors noticed following areas of concern for diagnosis:echolalia, poor
language skills, fine and gross motor skill delays, delayed self-care skills,
visual perceptual deficits, sensory integration dysfunction, auditory
processing weaknesses and oral dysphagia.

3. Introduction
Autism is a developmental disorder that appears in the
first 3 years of life, and affects the brain's normal
development of social and communication skills
• Characterised by impairment in:
– Communication
– Language
– Motor skills
– Speech
– Thinking Abilities
– Reciprocity

4. Etiology
• Multiple genes - 2q, 7q31-35, 15q11-13,
16p11.2, ...
• Broader clinical phenotype suggested by
• heterogeneity and family associations
• CONCORDANCE RATE IN -
• Identical twins - 60% - 90%
• Fraternal twins – 0 - 36%; sibs 4% - 10%
• Higher incidence of Major Depression, Social
• Phobia and Bipolar Disorder

5. Etiology
Autism 4 to 8 times more common in males. Strong X -
linked association.
• Features of autism seen in Prader-Willi syndrome,
Angelman syndrome.
Neuroanatomic findings- abnormal brain growth
Prenatal or early
postnatal exposure to viral
infections (rubella), valproic acid,
thalidomide
Proposed: Influence of mercury,
lead, elevated copper/zinc ratio;
lack of vitamin D, vaccines, radiation

6. Symptoms of children with
autism
Communication Social relationships
• Avoid eye contact
• Act as if deaf • Act as if unaware of the coming and going of
others
• Develop language, then abruptly stop talking
• Are inaccessible, as if in a shell
• Fail to use spoken language, without
compensating by gesture • Fail to seek comfort
• Fail to develop relationships with peers
• Have problems seeing things from another
person’s perspective, leaving the child unable to
predict or understand other people’s actions
Exploration of Environment
• Physically attack and injure others without provocation
• Remain fixated on a single item or activity
• Practice strange actions like rocking or hand-flapping
• Sniff or lick toys
• Show no sensitivity to burns or bruises, and engage in self-mutilation
• Are intensely preoccupied with a single subject, activity or gesture
• Show distress over change
• Insist on routine or rituals with no purpose
• Lack fear

7. Diagnosis
• Pervasive developmental disorders
– Autism + Asperger + Rett syndrome + Childhood
Disintegrative Disorder + pervasive developmental
disorder - not otherwise specified
• Autism spectrum disorders
– Autism + asperger syndrome + pervasive developmental
disorder - not otherwise specified

9. Warning signs  language + social delay
• Aberrant social skill is hallmark of ASD:
– Abnormal eye contact
– Failure to orient to name
– Unable to gesture for pointing or showing
– Lack of interest in social play
– Failure to smile
– Lack of sharing
– Lack of interest in other children

10. • Early signs:
– Loss of language skills
– Inability to adapt to new settings
– Lack of imitation
– Absence of imaginary play
– Deviation of social and emotional devleopment:
• ↓ eye contact
• Failure to orient to name
To be detected by
• Lack of joint attention 1 year
• Late signs :
– Odd or stereotypical behaviour

11. Screening tools
• The Checklist for Autism in Toddlers (CHAT)
– 18 month old children in primary care settings
– Combines parent responses and direct observation of child
– Poor sensitivity
• The Modified Checklist for Autism in Toddlers (M-CHAT)
– 23 item parent questionnaire
– Good sensitivity and specificity = good screening tool
• The Pervasive Developmental Disorders Screening Test (PDDST)
– Survey for parents of children 0-3 years
– All tiers have aspects of language, social skills, pretend play, motor and
sensory stereotypes
– 3 tier approach
• 1 – primary care clinic
• 1 – developmental clinic
• 1 – multidisciplinary autism clinic

12. • Evaluate:
– Physical examination  head circumference 25 %
(macrocephaly)
– Examination of skin with woodlamp for tuberous
sclerosis
– Fragile X syndrome (long face, large ears, large testes) –
changes in FMR1 gene
– Angelman syndrome (broad mouth, ataxic gate)
– Audiologic tests (language delay)
– Lead level (signs of pica)
– Chromosomal analysis

13. Treatment
For young children:
• Intensive behavioral therapy beginning before 3 years
• Focus on speech and language development
• 40h/wk of intensive 1:1 training for 2 years (applied
behavioral analysis)
• Deals with acquiring:
– Compliant behaviour
– Social interaction
• Pharmacotherapy needed for some psychiatric target
symptoms

14. • Education models such as TEACCH needed
• Treatment and Education of Autistic and Related
Communication handicapped Children (TEACCH)
emphasises on:
– Behaviour and behvioural changes (CARS)
– Enhancing skills
– Use of visual stimuli while working
– Multidisciplinary training for teachers

15. • Older children and adolescents:
– High intellect + poor social skills + psychiatric symptoms
– Psychotherapy, pharmacotherapy & behvioural or
cognitive behavioral therapy needed
– Behavioral modification (main)
• Enhancement (rewards)
• Reduction (punishment / time out)
– Social skill training also done

16. • Psychiatric symptoms dealt with pharmacotherapy
• Hyperactivity, physical agression, self injurious
behaviour, sterotypies, anxiety symptoms, OCD’s
• Atypical neuroleptics (riperidone, olanzapine)
• SSRI + clonidine
– SSRI for hyperactivity and OCD
• Clomipramine (stereotypies + compulsions)
– Agranulocytosis and cardiotoxicity

17. Outcome of patients with Autism
• Children with better communicative abilities live
self sufficient , yet isolated lives
• Dependence on family members
• Children with poorer profiles, higher predisposition
for seizures , self injurious and abusive behaviour
common.

18. Aspergers Syndrome

19. • Patients have a qualitative impairment in the
development of reciprocal social interaction, often
showing repetitive behaviours and restricted,
obsessional and pragmatic aspects of
communicatation.
• Language impairment not as severe as autism. High
functioning autism.
• Lack of nonverbal communicative skills.

20. • Normal language milestones
• Prevalence is estimated to be approximately
11/10,000 children.
• At risk of developing psychiatric disorders.
• Group social skill training hallmark of intervention

21. Savant syndrome
• Savant syndrome is a rare, but extraordinary,
condition in which persons with serious mental
disabilities, including autistic disorder, have some
'island of genius' which stands in marked,
incongruous contrast to overall handicap. As many
as one in 10 persons with autistic disorder have
such remarkable abilities in varying degrees,

22. RETT'S SYNDROME
Rett syndrome is a neurological and developmental disorder
that mostly occurs in females. Infants with Rett syndrome
seem to grow and develop normally at first, but then stop
developing and even lose skills and abilities.
For instance, they stop talking even though they used to say
certain words. They lose their ability to walk properly. They
stop using their hands to do things and often develop
stereotyped hand movements, such as wringing, clapping, or
patting their hands.
Rett syndrome is considered one of the autism spectrum
disorders. Most cases of Rett syndrome are caused by a
mutation on the MECP2 gene, which is found on the X
chromosome.

23. April Is
Autism Awareness
Month