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Autism Spectrum Disorder

Hendri Saputra, S. Ked
dr. Lollytha C.S., Sp. KJ

• Autism spectrum disorder, previously known as pervasive
developmental disorder, is a phenotypically heterogeneus
group of neurodevelopmental syndrome with polygenic
• Characterized by wide range of impairment in social
communication and restricted & repetitive behaviour.

According to DSM-V, autism spectrum disorder was conceptualized as
five discrete disorder, including:
• Autistic disorder
• Asperger’s disorder
• Chillhood disintegrative disorder
• Rett’s syndrome
• Pervasive developmental disorder not otherwise spesified

• Leo Kanner (1943) => described “early infantile autism”, provide a
clear, comprehensive account of early chillhood syndrome.
• Henry Maudsley (1867) => observed a group of very young children
with severe mental disorder characterized by marked deviation, delay
& distortion in development.
• Before 1980, children with symptom of autism spectrum disorder
were generally diagnosed with chillhood schizophrenia => two
dictinct psychiatric entities.

• Prevalence: autism spectrum disorder have been increasingly
diagnosed over last two decades, with current prevalence estimated
at approximately 1% in last two decades.
• Based on DSM-IV-TR, criteria, it believed to occur at rate 8 case per
10.000 children (0.08%).
• Sex distribution: autism spectrum disorder is diagnosed 4x more
often in boys than girls.

Etiology & Pathogenesis
• Genetic factor: genetic studies have identified two biological systems
that are influenced in autism spectrum disorder: the consistent
finding of elevated platelet serotonin (5-HT), and the mTOR, that is,
mammalian target of rapamycin-linked synaptic plasticity
mechanisms, which appear to be disrupted in autism spectrum
• Researchers who screened the DNA of more than 150 pairs of siblings
with autism spectrum disorder found evidence of two regions on
chromosomes 2 and 7 containing genes that may contribute to autism
spectrum disorder. Additional genes hypothesized to be involved in
autism spectrum disorder were found on chromosomes 16 and 17.

Biomarkers in Autism Spectrum Disorder
• Several biomarkers of abnormal signaling in the 5-HT system, the mTOR-
linked synaptic plasticity mechanisms, and alterations of the y-
aminobutyric acid (GABA) inhibitory system.
• The first biomarker identified in autism spectrum disorder was elevated
serotonin in whole blood, almost exclusively in the platelets. Platelets
acquire 5-HT through the process of SERT (serotonin transporter), known
to be hereditary, as they pass through the intestinal circulation.
• The genes that mediate SERT (SLC64A), and the 5-HT receptor 5-HT 2A
gene (HTR2A) are known to be more heritable than autism spectrum
disorder, and encode the same protein in the platelets and in the brain.
• Because 5-HT is known to be involved in brain development, it is possible
that the changes in 5-HT regulation may lead to alterations in neuronal
migration and growth in the brain.

• Immunological factors: several reports have suggested that
immunological incompatibility (i.e., maternal antibodies directed at
the fetus) may contribute to autistic disorder.
• Prenatal and perinatal factors: The most significant prenatal factors
associated with autism spectrum disorder in the offspring are
advanced maternal and paternal age at birth, maternal gestational
bleeding, gestational diabetes, and firstborn baby. Perinatal risk
factors for autism spectrum disorder include umbilical cord
complications, birth trauma, fetal distress, small for gestational age,
low birth weight, low 5-minute Apgar score, congenital malformation,
ABO blood group system or Rh factor incompatibility and
• Comorbid neurological disorders: electroencephalography (EEG)
abnormalities and seizure disorders occur with greater than expected
frequency in individuals with autism spectrum disorder.
Diagnosis and Clinical Features
Core symptoms of autism spectrum disorder:
• Persistent deficits in social communication and interaction.
• Restricted, repetitive patterns of behavior, interests, and activities.
• Associated physical characteristics: children with autism spectrum
disorder, overall, do exhibit higher rates of minor physical anomalies,
such as ear malformations, and others that may reflect abnormalities
in fetal development of those organs along with parts of the brain. A
greater than expected number of children with autism spectrum
disorder do not show early handedness and lateralization, and remain
ambidextrous at an age when cerebral dominance is established in
most children.
Associated behavioral symptoms that may
occur in autism spectrum disorder
• Disturbances in language development and usage
• Intellectual disability
• Irritability
• Instability of mood and affect
• Overrespond to some stimuli and underrespond to other sensory stimuli
(e.g., to sound and pain).
• Hyperactivity and inattention
• Precocious skills
• Insomnia
• Minor infections and gastrointestinal symptoms.
Differential Diagnosis

Differential Diagnosis

• The goals of treatment for children with autism spectrum disorder are to
target core behaviors to improve social interactions, communication,
broaden strategies to integrate into schools, develop meaningful peer
relationships, and increase long-term skills in independent living.
• Psychosocial treatment interventions aim to help children with autism
spectrum disorder to develop skills in social conventions, increase socially
acceptable and prosocial behavior with peers, and to decrease odd
behavioral symptoms.
• Comprehensive treatment for autism spectrum disorder including intensive
behavioral programs, parent training and participation, and
academic/educational interventions have provided the most promising
• Components of these comprehensive treatments include expanding social
skills, communication, and language, often through practicing imitation, joint
attention, social reciprocity, and play in a directed but child-centered
• Psychopharmacological interventions in autism spectrum disorder are
mainly directed at ameliorating impairing associated behavioral symptoms
rather than core features of autism spectrum disorder. Target symptoms
include irritability, broadly including aggression, temper tantrums and self-
injurious behaviors, hyperactivity, impulsivity, and inattention.

Course and Prognosis
• Autism spectrum disorder is typically a lifelong, albeit heterogeneous,
disorder with a highly variable severity and prognosis.
• Children with autism spectrum disorder and IQs above 70 with average
adaptive skills, who develop communicative language by ages 5 to 7 years,
have the best prognoses.
• A longitudinal study comparing symptoms in children with high-IQ autism
spectrum disorder at the age of 5 years, with their symptoms at age 13
through young adulthood, found that a small proportion no longer met
criteria for autism spectrum disorder. Most of these youth demonstrated
positive changes in communication and social domains over time.
• Early intensive behavioral interventions have been found to provide a
profound positive impact on many children with autism spectrum disorder,
and in some cases lead to recovery and function in the average range.
ICD-10 Diagnostic Criteria for Pervasive Developmental Disorders