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Prof.

Joesoef Simbolon, SpKJ (K)

Characterized by severe and pervasive


impairment in several areas of development:
Reciprocal social interaction skills
Communication skills
Presence of stereotyped behavior, interests and

activities

Qualitative impairments are distinctly deviant


relative to developmental level or mental age.
Usually evident in the first years of life
Often associated with some degree of mental
retardation
Sometimes observed with a diverse group of
other general medical conditions

Characteristics of DSM-IV subtypes of PDD


Characteristic

Autistic
Disorder

Asperger
s Disorder

PDD
not
otherwis
e
specifie
d

Retts
Disorder

Childhood
Disintegrat
ive
Disorder
(CDD)

Age at onset

< 3 yrs

Variable

Variable

5-30
mos

2-10 yrs

Presence of
regression

Mild;
in minority

No

No

Yes

Yes

Gender

M/F ratio 4:1

M>F

M>F

M>F
prima
rily

Mental
retardation

Present
in majority

Absent
in
majority

Variable

Often
severe

Often
severe

Social
impairment

Yes

Yes

Yes

Yes

Yes

* Pragmatic and/or social language may be

Social Interactions

Repetitive
behaviors

Language

AUTISM

Can be a lack of interest in social interaction


or a lack of skills to facilitate interaction
Manifested as:
Marked impairment in non-verbal gestures
Failure to develop appropriate peer relationships
Lack of seeking to share enjoyment
Lack of social/emotional reciprocity

Even among high-functioning individuals,


social interactions remain impaired into
adulthood

Closely connected with social interaction


Delay in, or lack of, spoken language or a nonspoken proxy
Structural or pragmatic language can be
affected
Stereotyped or unusual use of language
(echolalia, pronoun reversal, neologisms)
Comprehension can also be affected,
especially around non-literal language

Inflexible adherence to non-functional


routines
Stereotyped and repetitive motor
mannerisms
Persistent preoccupation with parts of
objects
Encompassing preoccupation with one or
more stereotyped and restricted patterns of
interest that is abnormal in:
Intensity
Focus

Irritability/tantrums
Hyperactivity
Self-injurious behavior
Odd responses to sensory stimuli
Lack of fear or excessive fearfulness

Cognitive impairment (~70%)


Seizures (~30%)
Macrocephaly (~30%)
Microcephaly
Mental retardation
GI and sleep disturbances
Psychiatric comorbidities

Any = ~70%, two or more = ~40%


ADHD = ~30%
Anxiety, phobia, OCD = ~44%
Depressive disorder ~1%

Known causes include:


Chromosomal abnormalities
Herpes Simplex Virus (HSV)
Malaria
Congenital causes

Laboratory findings:

When Autistic Disorder is associated with a general medical condition,

laboratory findings are consistent with that general medical condition


Group differences in some measures of serotonergic activity not
diagnostic for Autistic Disorder
Imaging studies may be abnormal no specific pattern clearly identified
EEG abnormalities are common even in the absence of seizure disorders

Physical examination findings and general medical conditions:


Various nonspecific neurological symptoms, e.g.:

Primitive reflexes, Delayed development of hand dominance

Sometimes observed in association with a neurological or other general

medical condition

Fragile X syndrome

Seizures may develop in as many as 25% of cases (mostly in

adolescence)
Microcephaly and Macrocephaly

Multidisciplinary Evaluation Team for a


Comprehensive Diagnostic Evaluation

Psychologist, preferably a specialist in child

development to administer tests such as the


ADOS, ADI
Neurologist to assess seizures, assess need for
imaging, check for other possible etiologies
Psychiatrist to evaluate for related illnesses
such as ADHD, anxiety, and OCD
Speech-Language Pathologist or Therapist to
evaluate language capabilities and initiate a
treatment plan
Social worker and/or special education teacher
to assess caregiver needs and facilitate entry
into appropriate support and education services

Appropriate types of assessments, not all may


be performed
Basic neurological assessment
Genetic check for Fragile X Syndrome or other

genetic disorders, especially if dysmorphism or


family history is present
In-depth cognitive testing, usually by a
psychiatrist or neuropsychologist
Formal hearing test by the PCP, a
speech/language pathologist, or hearing
specialist
Lead screening (heavy metal) test, especially if
pica is apparent

DSM-IV-TR Diagnostic Criteria for Autistic Disorder


The person fulfills a total of at least 6 criteria from the following:
Impaired social interaction (at least 2):

Markedly deficient regulation of social interaction by using multiple non-verbal


behaviors such as eye contact, facial expression, body posture and gestures.
Lack of peer relationships that are appropriate to the developmental level.
Doesn't seek to share achievements, interests or pleasure with others.
Lacks social or emotional reciprocity.

Impaired communication (at least 1):

Delayed or absent development of spoken language for which the patient


doesn't try to compensate with gestures.
In person's who can speak, inadequate attempts to begin or sustain a
conversation.
Language that is repetitive, stereotyped or idiosyncratic.
Appropriate to developmental stage, absence of social imitative play or
spontaneous, make-believe play.

Activities, behavior and interests that are repetitive, restricted and

stereotyped (at least 1):

Preoccupation with abnormal (in focus or intensity) interests that are restricted
and stereotyped (such as spinning things).
Rigidly sticks to routines or rituals that don't appear to have a function.
Has stereotyped, repetitive motor mannerisms, such as hand flapping.
Persistently preoccupied with parts of objects.

Additionally:

Before age three, the person shows delays or abnormal


functioning in at least one of the following:

Social interaction
Language used in social communication
Imaginative or symbolic play
These symptoms exhibited by the patient are not better
explained by a diagnosis of Childhood Disintegrative
Disorder or Rett's Disorder.

Behavioral

Applied behavior analysis


Adaptive skills
Integration

Non-verbal communication methods (picture


exchange, eye-contact coaching)
Educational
Specialized classes, low student: teacher ratios,
early intervention

SSRIs: OCD-like behaviors, aggression,


anxiety
Stimulants: ADHD-like behaviors
Mood-stabilizers: impulsivity, mood lability
Antipsychotics

Risperidone
Aripiprazole
Small, mostly open-label trials with the others

Treatment Pharmacologic

Medications are frequently used to address


behaviors or symptoms of autism.
Serotonin re-uptake inhibitors:

Effective in treating depression, obsessive-compulsive


behaviors and anxiety
Could reverse some of the symptoms of serotonin
dysregulation found in 1/3 of individuals with autism
Studied: fluvoxamine (Luvox), fluoxetine (Prozac).

May reduce frequency/intensity of repetitive behaviors, may


decrease irritability, tantrums, agressive behaviors.
Sometimes shows improvement in eye contact and
responsiveness.

Source: Autism Society of Ameri

Treatment Pharmacologic
Antipsychotic medications:
Most widely studied of psychopharmacologic
agents in autism
Developed for treating schizophrenia and found
to decrease hyperactivity, stereotypical
behaviors, withdrawal and agression in
individuals with autism

Examples: clozapine (Clozaril), risperidone (Risperdal),


olanzapine (Zyprexa), quetiapine (Seroquel),
aripiprazole (Abilify)

Studied in adults with autism and FDA approved:


risperidone (Risperdal)
Need careful monitoring due to side effects,
including sedation

Source: Autism Society of America

Treatment Pharmacologic
Stimulants:

Ritalin, Adderall and Dexedrine


Used to treat hyperactivity in children with
ADHD
Few studies but anecdotal evidence
May increase focus and decrease impulsivity
and hyperactivity in autism, particularly in
children who are not as severely affected
Need careful monitoring of dosages due to
behavioral side effects

Source: Autism Society of America

2.

Excessively active at home, school, work or elsewhere


Injures self on purpose

3.

Listless, sluggish, inactive

4.
5.

Aggressive to other children or adults (verbally or phisically)


Seeks isolations from others

6.

Meaningless, recurring body movements

7.

9.

Boisterous (inappropriately noisy & rough)


Screams inappropriately
Talks excessively

10.

Temper tantrum/outbursts

11.
12.

Stereotyped behavior,abnormal,repetitive movements


Preoccupied, stares into space

13.

Impulsive (acts without thinking)

14.

Irritable and whiny


Restless, unable to sit still

1.

8.

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Withdrawn; prefers solitary activities


Odd, bizzare in behavior

18.

Disobedient, difficult to control

19.

Yells at inappropriate time


Fixed facial expression; lacks emotional responsiveness

16.

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Disturbs others
Repetitive speech
Does nothing but sit and watch others
Uncooperative
Depressed mood
Resists any form of phisical contacts
Moves or rolls head back and forth repetitively
Does not pay attention to instruction
Demands must be met immediately
Isolates himself/herself from other children or adults
Disrupts group activities
Sits or stands in one position for a long time
Talks to self loudly
Cries over minor annoyances and hurts
Repetitive hand,body, or head movements
Mood changes quickly
Unresponsive to structured activities (does not react)
Does not stay in seat (e.g during lesson or training periods, meals, ect)
Will not sit still for any length of time
Is difficult to reach, contact or get through to
Cries and scream appropriately
Prefers to be alone
Does not try to communicate by word or gestures
Easily distractable
Waves or shakes the extremities repeatedly
Repeats a word of phrase over and over
Stamps feet or bangs objects or slams doors

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Constantly runs and jumps around the room


Rocks body back and forth repeatedly
Deliberately hurts himself/herself
Pays no attention when spoken to
Does physical violence to self
Inactive, never moves spontaneusly
Tends to be excessively active
Responds negatively to affection
Deliberately ignores directions
Has temper outburts or tantrums when he/she does not get own way
Shows few social reactions to other

Mean Change in ABC-I

Mean Change in the Aberrant Behavior


Checklist - Irritability Subscale by Week
(LOCF)
*
**
***
**

***

***

***

Week
Mean baseline scores (SE): Pbo = 30.8 (1.0); Ari = 29.6 (1.0)
* p < 0.05, ** p < 0.005, *** p < 0.001 vs. placebo

Mean Change in ABC-I

Mean Change from Baseline in the


Aberrant Behavior Checklist - Irritability
Subscale by Week (LOCF)

*
**

***

**

***

***

**

Mean baseline scores (SE): Pbo = 26.9 (1.0); Ari 5 mg = 28.3 (1.0), 10 mg = 27.6 (0.9), 15 mg = 28.3
* p < 0.05, 15 mg arm only, ** p < 0.05 all arms, ***(1.0)
p < 0.01 all arms vs. placebo

Mean Change in ABC-I

Mean Change from Baseline in the


Aberrant Behavior Checklist - Irritability
Subscale by Week (LOCF)

*
**

***

**

***

***

**

Mean baseline scores (SE): Pbo = 26.9 (1.0); Ari 5 mg = 28.3 (1.0), 10 mg = 27.6 (0.9), 15 mg = 28.3
* p < 0.05, 15 mg arm only, ** p < 0.05 all arms, ***(1.0)
p < 0.01 all arms vs. placebo

Mean Change from Baseline in Aberrant Behavior


Checklist Subscales at Endpoint (LOCF)

**

NS

**

***

**

NS

NS

Aripiprazole 5 mg

**

NS
NS

Placebo

**

Aripiprazole 10 mg

*p0.05; **p0.01; ***p<0.001 vs. placebo

Aripiprazole 15 mg

Mean Change from Baseline in Aberrant Behavior


Checklist Subscales at Endpoint (LOCF)

**

NS

**

***

**

NS

NS

Aripiprazole 5 mg

**

NS
NS

Placebo

**

Aripiprazole 10 mg

*p0.05; **p0.01; ***p<0.001 vs. placebo

Aripiprazole 15 mg

8-week Autistic-Study

Efficacy in Autistic Pediatric Patient


(6 17 years old)

ABILIFY
IRRITABILITIY
Mean Change in
Aberrant Behavior Checklist
placebo 5mg

10mg

(Week-8)

15mg

Abilify

COMPULSION
Mean Change in
Children Yale-Brown
Obsessive Compulsive Scale
15mg 10mg 5mg placebo

-1.7
-2.4
-8.4

-2.6

-3.2

-12.4

-13.2

-14.4

** *

(LOCF)

R.N.Marcus. J.Am.Acad.Child Adolesc.Psychiatry 2009

* : p < 0.05 * * * :p < 0.001

vs. placebo

Most children diagnosed with autism


(average age 5 years) retain that diagnosis
at 9 years
Outcomes are better for PDD-NOS
Early and intensive intervention is key

Long-term prognosis is poor


Most autistic individuals as adults are highly
dependent on caregivers
Even those who are able to work and function
independently have difficulties with interpersonal
relationships
IQ tends to remain stable, and outcomes are
generally better with individuals with a high IQ

MEDAN, 10 MARET 2011