overview of autism and autistic behaviors

2. PLAN OF PRESENTATION
 INTRODUCTION
 HISTORY
 CLASSIFICATION
 ETIOPATHOGENESIS
 CLINICAL FEATURES
 DIFFERENTIAL DIAGNOSIS
 COURSE AND PROGNOSIS
 MANAGEMENT
 CONCLUSION
 BIBLIOGRAPHY

3. INTRODUCTION
Autism is a complex disorder of the central nervous
system
impairment of social function
impaired verbal & non-verbal communication
restricted & stereotypic behaviors & interests
It is grouped as one of the pervasive developmental
disorders in both ICD-10 & DSM IV-TR

4. HISTORYHISTORY
1867 : Henry Maudsley noted group of young
children with mental disorders
1911 : Eugene Bleuler gave the term autismus
1943 : Leo Kanner in his paper “Autistic
Disturbances Of Affective Content”
coined the term infantile autism

5. HISTORYHISTORY
1960 : Autism became established as separate
syndrome from schizophrenia & mental
retardation
1970 : Neurobiological basis was suggested
1978 : Michael Ruther’s definition of autism..
instrumental in inclusion of autism as a
definition of a condition in DSM-III

6. EPIDEMIOLOGY
PREVALANCE : 8 cases per 10000 children
SEX RATIO : 4-5 times frequent in boys
In girls however severity of mental
retardation is more
SOCIOECONOMIC STATUS
Earlier studies- in higher status
Presently autism is seen in all social class

7. CLASSIFICATION
PERVASIVE DEVELOPMENTAL DISORDERS
 Autistic Disorder
 Rett’s Disorder
 Childhood Disintegrative Disorder
 Asperger’s disorder
 Pervasive Developmental Disorder NOS

8. ETIOPATHOGENESIS
1. GENETIC FACTORS
# Linkage Analysis : Ch. 7,2,4,15 & 19
# Concordance studies : MZ > DZ (60% /0%)
# Relation with other medical conditions
Fragile X syndrome ( 1%)
Tuberous sclerosis ( 0.4 – 2.8%)

9. ETIOPATHOGENESIS
2. BIOLOGICAL FACTORS
Association with various disease like
 Mental retardation ( 70% approx.)
 Epilepsy ( 30% )
 Others … Congenital Rubella, PKU,
Neurofibromatosis.

10.  EPILEPSY & AUTISM
Epilepsy occurs in up to 30% of those with
autism and can amplifytheir symptoms.
Onset of seizure peaks at early childhood &
adolescent.
Various types of EEG patterns found.
Onset of seizure is assoc. with deterioration.
Lower functioning are at increased risk .

11. ETIOPATHOGENESIS
3. NEUROANATOMICAL FACTORS
a) CEREBELLUM
decrease no. of Purkinjee & granule
cell assos. with gliosis
MRI : decrease in mid-saggital area
of vermal lobules VI & VII

12. ETIOPATHOGENESIS
b) LIMBIC SYSTEM
# decrease neuronal size & dendritic
arborisation.
# increase neuronal packing density in
amygdala, hippocampus, anterior cingulate
& mamillilary bodies

13. ETIOPATHOGENESIS
c) FRONTAL LOBE INTEGRITY & FUNCTION
 lesions in orbital & medial pre-frontal cortex
assos. With loss of social cognitive process
 hypoactive reciprocal connections with limbic
system

14. ETIOPATHOGENESIS
d) TEMPORAL LOBE
lesions assos. with autistic-like
syndrome ..
underactivation of fusiform gyrus
consistent with deficit in face & facial
expression in autism.

15. ETIOPATHOGENESIS
e) BRAIN SIZE
 pronounced enlargement in 2-10% of
cases.
 Evident by 12months
 Enlargement limited to parietal, occipital
& temporal lobe
These findings are suggested as a possible
biomarker for autism

16. ETIOPATHOGENESIS
4) BIOCHEMICAL FACTORS
 Increase peripheral levels of serotonin
(1/3rd
cases )
 increase dopaminergic activity
overactivity & stereotyped behavior
 high conc. of HVA in csf - withdrawl &
stereotypies

17.  OpiOid theOry
it proposes that autism arise from early,
long-term overload of CNS by opioid.
probably derived from dietary
substances ( gluten & caesin)
opioid pass through BBB to affecting
neurotransmission & producing
physiological symptoms like hyperactivity.

18. ETIOPATHOGENESIS
5 ) PERINATAL FACTORS
 maternal bleeding in 1ST
trimester
 meconium in amniotic fluid
 neonatal anemia
 neonatal respiratory distress syndrome.
6) IMMUNOLOGICAL FACTORS
results from immunological incompatibility
between fetal lymphocytes & maternal
antibodies

19. ETIOPATHOGENESIS
6) IMMUNOLOGICAL FACTORS ( contd.)
exposure to MMR vaccine in fetal period
7) PSYCHOSOCIAL FACTORS
 Role of emotional factors.
 Refrigerator mothers.
 Not considered significant presently

20. ETIOPATHOGENESIS
MirrOr NeUrON theOry OF AUtiSM
hypothesizes distortion in the development of
the MNS interferes with imitation and leads
to autism's core features of social impairment and
communication difficulties.
Studies shows structural abnormalities in MNS
involved in Asperger & with severity of ASD.
It does not explain normal performance of an
autistic child on imitation task that involve goal.

21. CLINICAL FEATURES
 rANGe OF eXpreSSiON
 Lowest functioning children ( mute / isolated)
 Seek passive interaction & do not seek spontaneous
interaction.
 Higher functioning - active but can’t sustain the
complexities of interaction
 AGe OF ONSet
 12 – 18 months : early evidences
 3years- usual age of presentation

22. CLINICAL FEATURES
 iMpAirMeNt iN SOciAl iNterActiON
Early childhood / Pre-school
lack of social smile & anticipatory posture
on being tried to pick up.
Poor / less frequent eye contact
Anxious if surroundings / routine disrupted.
Stranger anxiety absent

23. CLINICAL FEATURES
IN SCHOOL
 Inability to play with peers & make
friends.
 awkward social behavior.
 better in visual-spatial skills than verbal.
 lack of empathy
ADOLESCENCE
Inability to develop sexual relationship.

24. CLINICAL FEATURES
 iMpAired verbAl & NON-verbAl
cOMMUNicAtiON
 Minimal / abnormal babbling or playing with
sound
 Echolalia & Echopraxia.
 Pronoun reversal .
 lack of meaning / empathy in speech.
 Splinter skill
 Savant skill

25. CLINICAL FEATURES
 RestRicted & steReotypic
behavioRs
 resist change / variation in routine .
 interested in repetitive activities
e.g.. collecting things, memorizing no.etc
 attachment to particular inanimate object.
 preoccupations- spinning object, ceiling fan.
 stereotyped movements - toe walking, finger
flicking , body rocking.

26. CLINICAL FEATURES
 instability of mood & affect
 Inappropriate affect without any reason .
 Anxiety in social situation
 may develop depression in adolescence .
 sleepinG & eatinG dioRdeRs
 Erratic sleep patterns
 Liking / disliking particular food
 Refusal to try new food & Pica

27. CLINICAL FEATURES
 Response to sensoRy stimuli
hypoactive / hyperactive response to sounds,
pain .
 self inJuRy & aGGRession
 due to decrease sense of danger & impulsivity.
 pick skin, bite hands, pull hair, etc.
 tamper tantrums when demands not met.

28. CLINICAL FEATURES
 intellectual functioninG
 Mental retardation - 70%
mild –mod. : 30%
severe – profound : 40 -45%
 One-fifth have normal non-verbal skills.
 poor in abstract skills, verbal sequencing .
 good in visual-spatial , rote memory function

29. DIFFERENTIAL DIAGNOSIS
 Rett’s disorder
 Childhood disintegrative disorder
 Asperger’s disorder
 Childhood onset schizophrenia.
 Mental Retardation with behavioral symptoms
 Congenital Deafness or severe hearing impairments
 Psychological Deprivation .

30. COURSE AND PROGNOSIS
 A lifelong disorder with guarded prognosis
 I.Q > 70% & communicative language by 5-7
years has good prognosis.
 onset of seizure has bad prognosis.
 Ritualistic & repetitive behaviors persists.
 2/3rd
live as dependent / semi-dependent.
 1-2% - independent status with gainful
employment.
 5-20% - borderline normal status.

31. MANAGEMENT
 Screening.
 Assessment Instruments.
 Treatment
 educational & behavior therapy.
 psycho pharmacotherapy.

32. MANAGEMENT
 scReeninG
recommended for subjects who
- not babbled / cooed by one year
- not gestured / pointed / waved by one year
- not spoken a single word by 16 months
- not spoken a 2-word phrase by 2 years.
- experiences any loss of language / social
at any age
According National Institute of Child Health and Human Development
(NICHD)

33. MANAGEMENT
 scReeninG
CHAT QUESTIONAIRE
 done as young as 18 months.
 decision made whether autism is likely
or unlikely
 assessment instRuments
a) ABC b) ADI-R
c) CARS d) PL-ADOS


34. MANAGEMENT
 assessment instRuments
 AUTISM BEHAVIOR CHECKLIST
list of questions grouped in 5 categories
designed to be filled up by parent /school teacher
AUTISM DIAGONOSTIC INTERVIEW-
REVISED
Structured interview for diagnosing, planning
treatment & distinguishing autism from other
developmental disorder

35. MANAGEMENT
 assessment instRuments ( contd.)
 ADI-R ( contd.)
done in children / adult with MA > 2 years.
 CHILDHOOD AUTISM RATING SCALE
identify children with autism & determine
symptom severity through quantifiable ratings.
done over 2 years of age

36. MANAGEMENT
 assessment instRuments ( contd.)
 CHILDHOOD AUTISM RATING SCALE
involve a 7-point scale for each 15 item .
cut off range – below it termed autistic &
further into mild- mod. & severe autism
 PRE- LINGUISTIC AUTISM DIAGNOSTIC
OBSERVATION SCHEDULE
semi structured interview used as diagnostic tool
for children < 6years not using phrase speech.

37. MANAGEMENT
 TREATMENT
Goals of treatment :
i. decrease target behaviors.
ii. develop meaningful peer relationship .
iii. increase independent living.
EducATioNAl & bEhAvioR ThERApy
i. Structured situation
low student : teacher ratio .

38. MANAGEMENT
 EducATioNAl & bEhAvioR ThERApy (coNTd.)
i. Structured situation (contd.)
classroom free from distraction.
predictable and consistent routines.
generalization of learned experience.
ii. Speech – Language Therapy
use of vocabulary relevant to subjects daily
needs of life

39. MANAGEMENT
 EducATioNAl & bEhAvioR ThERApy (coNTd.)
iii. Behavior- Modification Technique
based on patterns of reinforcement &
rewards .
iv. Facilitated Communication
help in communication of the subject with
some language.
parental training regarding the disease & training
programme is also a must

40. MANAGEMENT
 psycho phARMAcoThERApy.
reduction of hyperactivity, irritability,
aggression , obsessive & compulsive behavior and
self injurious behaviors
i. Haloperidol : though initially for hyperactivity ,
decreasing use due to potential side effects
ii. Atypical Antipsychotics : reduce self-injurious,
aggressiveness , hyperactivity .

41. MANAGEMENT
 psycho phARMAcoThERApy. ( coNTd)
Dosage
a. Risperidone : 0.5-4mg / day
b. Olanzapine : 2.5- 10 mg /day
c. Quetiapine : 50- 200mg /day
d. Ziprasidone : 40-160mg /day
( treatment resistant cases)
e. Clozapine

42. MANAGEMENT
 psycho phARMAcoThERApy ( coNTd)
iii. Lithium : control self injurious & aggressive
symptoms when antipsychotics fail.
iv. SSRI : came in use due to high peripheral
level of serotonin .
v. Clonidine : suppress the arousal by decreasing
the noradrenergic activity.
vi. Naltrexone : suppresses endogenous opiod
activity

43. MANAGEMENT
 oThER AgENTs
 Music Therapy .
 Auditory Integration Therapy (AIT)
 Gluten and casein free diet.

44. CONCLUSION
 Concept of autism is shifting from a narrow
perception of aloof autism as described by Kanner to
a wider spectrum
 Genetic basis is been established with potential
linkage sites identified & hence psychological
theories are now obsolete .
 Role of opioids , multiple viral infection of gut &
epilepsy is now been under investigation

45. BIBLIOGRAPHY
 Kaplan & Sadock’s, Comprehensive Textbook of
Psychiatry; 8th
Edition; vol.2, ( p-3164 to 3175).
 Kaplan & Sadock’s , Synopsis of Psychiatry,
10th
edition ; ( p- 1191 to 1198)
 The British Journal of Psychiatry (2000) 176: 20-25
 portal.wpspublish.com.
 http://depts.washington.edu.
 www. Wikiepedia.com
 www.ninds.nih.gov
 www.thechildrensclinic.ie/autism.html

46. THANK YOU