Definition of Autism
Autism is a developmental disorder that
appears in the first 3 years of life, and affects
the brain's normal development of social and
markedly abnormal or impaired development
- social interaction
and markedly restricted repertoire of
activities and interests.
• In 2007 a CDC surveillance network found that an
average of 6.7 per 10000 (0.06%), 8-year-olds in
2002 had autism spectrum disorders (ASDs),
including pervasive developmental disorder (PDD)
and Asperger syndrome.
• The ratio of males to females with ASDs ranged
from roughly 3:1 to roughly 7:1. Autism occurs
equally across various races and socioeconomic
• At one time, it was more widely diagnosed in
higher socioeconomic groups, probably due to
• The cause of autism is unknown but it is thought
to be a disorder of genetic origins, with a
heritability of about 90% with as few as 2 and as
many as 15+ genes involved.
• Neurocognitive studies suggest lack of
connectivity may explain many of the cognitive
and emotional deficits.
• Syndromic autism is seen at high rates in various
genetic disorders (Tuberous sclerosis (2%), Fragile
X (1%), 15q11-q13 duplications, Down syndrome
and single gene disorders of metabolism such as
adenylate lyase deficiency).
• However, environmental influences are also
important, as concordance in monozygotic twins has
been found (36-91% monozygotic twins concordance
v/s 10% dizygotic twins concordance) and the
phenotypic expression of the disorder varies widely.
• Environmental factors include pre/ post-natal
infectious agents (congenital rubella, CMV), chemical
toxins (thiomerasol), autoimmune disorders (MMR-
anecdotal, not proven), obstetric complications.
• Neuropathology studies show;
- increased cell packing in the limbic system,
- reduced numbers of Purkinje cells in the
- age-related changes in the cerebellar nuclei and
- cortical dysgenesis,
- increased brain size, especially in the young
autistic child (as measured by head
- ventricular enlargement on CT scan (in 20-
- Increased MRI brain volume, and postmortem
• 4-32% pt’s have grandmal Seizures at some
• a/w rubella, PKU, and Tuberus Sclerosis.
• One-third of autistic subjects have elevated whole blood
serotonin [5-HT], but not specific to autistic disorder.
• Severity of Autism § HVA (homovanillic acid)/
5-HydroxyIndoleAceticAcid (metabolite of serotonin)
• Other neurotransmitters (dopamine [DA],
norepinephrine [NE], glutamate, gamma-aminobutyric
acid [GABA]) and neuropeptides (oxytocin, secretin,
beta-endorphins) have been implicated, but the
evidence is not as reproducible.
Core Behavioral Features of Autism
• The first key feature Kanner described was that his
patients were oblivious to the social world, not
unaware but uninterested.
• They ignored speech to such an extent that some
were considered to be deaf, although none had a
• The children ignored the comings and goings of
their parents, the presence of strangers, and the
presence of other children (Kanner 1943 ).
• Kanner described what is now considered to be the
most severe form of a continuum of impairment in
reciprocal social relatedness.
• Wing (1981) has suggested three main types of
relatedness impairments in ASD:
-aloof (as Kanner described),
-passive (responsive to others interactions but not
initiating interactions themselves),
-and active but odd (clearly interested in social
interaction but very unusual in the way they go about
• Children demonstrate social reciprocity in a variety of
ways, including patterns of eye gaze, shared emotional
expressions, social body postures, and gestures.
• This capacity is present in human development from
the first few months of life, in gestures such as raising
arms up to be lifted, use of eye contact to
communicate, and use of facial expressions directed to
others to communicate feelings.
• These are all affected in autism across age and
spectrum of ability levels.
• A second key feature of autism involves abnormal
development and use of language.
• This may involve abnormal rhythm, rate, and prosody of
• A significant number (50%) of children with autism do
not acquire speech.
• This group typically does not develop an alternative
communication system of gestures or icons without
• Thus, this subgroup lacks verbal and nonverbal
• For those who develop speech in the preschool period,
speech appears less a system for sharing thoughts,
feelings, desires, and experiences with others and more
a system of naming objects.
• Children with autism rely much more heavily on
repetition, or echolalia, for language learning than
• Development of sentences is typically delayed and
marked by echolalia (repetition of other’s sentences),
with resulting pronoun confusion. More verbal children
eventually master the syntactic rules, but for them
language is very literal and they often have difficulty
with metaphor, irony, and humor (Tager-Flusberg et al
key feature is lack of variation in daily behaviors of
children with autism.
• They have a narrow range of activities and interests and
devote large amounts of time to repetitive and
• Motor stereotypies such as hand flapping, toe walking,
finger movements, odd visual behaviors, repetitive
words, or other vocalizations are also common.
• Rituals and routines may involve consistent patterns of
grouping objects or insisting that household objects not
be moved or changed.
• Many children and adults with autism have unusual
reactions to the sensory world.
• Many children with autism respond strongly to loud
noises and moving objects, although they themselves
could make just as loud noises without being upset.
• Fascination with moving objects, water, watching the
wheels of cars and trains spin, elevator doors, and
feeling textures may go hand in hand with severe
aversions to clothing textures, food textures, certain
sounds, and negative reactions to haircuts or hair
ICD-10 DIAGNOSTIC GUIDELINES
F84.0 chilhood autism;
• Presence of abnormal & / or impaired
development before 3 yrs of age
• No prior period of normal development
• Qualitative impairment in reciprocal social
interactions, communication and restricted,
• Occurs in boys 3-4 times more often
F84.1 atypical autism;
• First time manifestation only after 3yrs of age
• Insufficient demonstrable abnormalities in
one/two of the three areas of
• Often in profoundly retarded individuals,
little scope for exhibition of specific autistic
behaviour due to very low level of
DSM-IV TR Category 299: PDD’s
Pervasive Developmental Disorders
• PDDs are characterized by severe and pervasive
impairment in 3 main areas;
1. Social interaction
3. Repetitive and restricted behaviors
DSM-IV-TR criteria (299.00)
A. According to DSM-IV-TR criteria, children with
autism have to have a total of at least six of the
following symptoms before age three, with specific
numbers from each the three broad categories:
1. At least two symptoms of abnormal social
– impaired nonverbal interactive behaviors (e.g. poor eye
contact, inappropriate facial expressions and gestures).
– failure to develop peer relationships.
– reduced interest in shared enjoyment.
– lack of social or emotional reciprocity.
DSM-IV-TR autism criteria…
2. At least one symptom of abnormal communication
– Delayed or lack of spoken language.
– Difficulty initiating or sustaining conversations.
– Stereotypic, repetitive or idiosyncratic language.
– Lack of imaginative or imitative play.
3. At least one symptom of abnormal behaviors:
– Stereotyped/restricted, obsessive interests.
– Rigid adherence to non-functional routines or rituals.
– Stereotypic/repetitive motor mannerisms (e.g. toe-
walking, hand flapping, body rocking).
– Preoccupation with parts of objects.
DSM-IV-TR autism criteria…
B. Delays or abnormal functioning in at least one
of the following areas, with onset prior to age
1. social interaction.
2. language as used in social communication.
3. symbolic & imaginative play.
C. The disturbance is not better accounted for
by Rett’s disorder or childhood disintegrative
• In DSM-V, Autism Spectrum Disorder 299.00 is a
new disorder encompassing the previous DSM-IV
autistic disorder (autism), Asperger’s disorder,
childhood disintigrative disorder, Rett’s disorder
and pervasive developmental disorder not
• It is characterized by deficits in two core domains;
1. deficits in social communication and social
2. restricted repetitive patterns of behaviour,
interests and activities.
Diagnostic Practices and Tools
• A detailed history from parental interviews,
• parental description of current functioning in typical
• clinical observation and assessment of the child’s
• The most common assessment tools are:-
– autism diagnostic inventory (ADI-R),
– an experimenter-administered interview,
– the social communication questionnaire,
– a parent questionnaire with key questions from ADI-R,
– the autism diagnostic observational scale-Generic
– an interactive semistructured interview with the child or
adult being diagnosed,
– and the childhood autism rating scales (CARSs),
an examiner behavior rating system completed after a
• About 70 -75 % of children with autistic disorder function in
the mentally retarded range of intellectual function.
• About 30 % of children function in the mild to moderate
• and about 45-50 % are severely to profoundly mentally
• studies show that the risk for autistic disorder
increases as the IQ decreases.
• About 1/5 of all autistic children have a
normal, nonverbal intelligence.
• The IQ scores of autistic children tend to
reflect most severe problems with verbal
sequencing and abstraction skills, with relative
strengths in visuospatial or rote memory skills.
This finding suggests the importance of
defects in language-related functions.
• Autism must first be differentiated from one of
the other pervasive developmental disorders-
– Asperser's disorder
– and pervasive developmental disorder not
• Michael Rutter & Lionel Hersov gave a stepwise
approach to D/D-
1. schizophrenia with childhood onset;
-scz is rare in children under 5.
-it is accompanied by delusions or hallucinations.
-it has lower incidence of seizers or MR.
2. mental retardation with Behavioural Symptoms;
-children with MR relates to adults, use the language and
exhibit a relatively even profile of impairments without
3. Mixed Receptive-Expressive language disorders;
-it has almost equal sex ratio,
-nonverbal communication & imaginative play is
present in child,
-autistic behaviours, impaired social life and
stereotypies are absent in these children.
4. Acquired aphasia with convulsions;
-these children are normal for several years
before losing both receptive and expressive
language over aperiod of wks or mths.
5. congenital deafness or severe hearing impairment;
-these children have h/o relatively normal babbling that
gradually taper and may stop at age of ½-1 yr of age,
-deaf child respond only to loud sounds while autistic
child may ignore loud or normal sound and respond to
soft or low sounds.
-audiogram indicate significant hearing loss in these
-deaf children relate to parents, seek their attention and
enjoy being held as infants.
6. psychosocial deprivation;
these children almost always improve when
placed in a favorable environment but such
improvement not seen in autistic children.
Medical and other Comorbid Features
• Seizures- the proportion of patients reported to
demonstrate comorbid seizure disorder varies
from 5-44% (Tuchman and Rapin 2002 ).
• A recent study (Hara 2007 ) carried out a follow-
up of 135 patients with idiopathic autism.
Of these, 33 of the follow-up group (25%)
exhibited epileptic seizures, which had an onset
between 8-26 years of age.
Medical and other Comorbid Features…
• Two types of seizure were observed: partial
seizures with secondarily generalized seizure (in
61%) and generalized seizure.
• While 18% of the nonepileptic group exhibited
epileptic discharges on EEG,
68% of the epileptic group revealed epileptiform
EEG findings before the onset of epilepsy.
Medical and other Comorbid Features…
• Some studies have found an association between low IQ
and the occurrence of epilepsy (Pavone et al 2004) or low
IQ and motor deficit and epilepsy (Tuchman et al. 1991).
• While the presence of seizure disorder and its association
with other aspects of autism may provide interesting clues
to the underlying pathophysiology, it remains unclear to
what extent epileptiform activity is a core attribute of
autism spectrum disorders.
• In Kanner’s original description of autism (1943), he
noted unusual fear or anxiety in several of his young
• One child, Herbert, was “tremendously frightened by
running water, gas burners, and many other things.” He
became upset by any change of an accustomed
pattern. “If he notices change, he is very fussy and
• Another child did a “good deal of worrying.” He was
upset because the moon did not always appear in the
sky at night. He preferred to play alone and would get
down from a play apparatus as soon as another child
• Kanner noted that although many individuals with
autism learn to tolerate changes in routine and
interactions with other people in their environment as
adults, these interruptions cause a great deal of anxiety
in young children with autism.
• Social interactions with other people are an unwelcome
intrusion to the child with autism.
• Children with autism have a higher incidence of
gastroin-testinal (GI) problems than typically
developing children or children with developmental
delays (Valicenti-McDermott et al. 2006 ).
• GI problems are a common complaint of parents of
children with autism and has been one of the factors
that have prompted the use of complementary and
alternative medicines (Harrington et al. 2006 ).
• Immune dysfunction may play an important role in a
subset of pervasive developmental disorder cases
(van Gent et al. 1997).
• Some patients with pervasive developmental disorder
demonstrate abnormalities and/or deficits of immune
system function leading to inappropriate or ineffective
immune response to pathogen challenge
(Ashwood and Van de Water 2004).
• For example, children with autism or pervasive
developmental disorder often have recurrent infections
(Stern et al. 2005 ), peripheral immune abnormalities
(Ashwood et al. 2003), or neuroinflammatory responses
in the central nervous system (Vargas et al. 2005 ).
• studies have also reported that autoimmune disorders
are more common in family members of ASD patients
compared to typically developing controls.
• Antibodies directed against CNS proteins have been
found in the sera of autistic children.
• Antibodies from serum of mothers who have
children with pervasive developmental disorder have
been shown to react to antigens on lymphocytes
from their affected children (Warren et al. 1990 ).
• Van de Water and colleagues have identified a
common pattern of autoantibody production to
fetal brain tissue in the serum of mothers who have
two or more children with pervasive developmental
disorder (Braunschweig et al).
Treatment strategies for PDDs: summary
• Educational and vocational interventions: most will
be eligible for individualized educational plan with
accommodations and services to address their
• Behavioral interventions: include behavior
modification, social skills training, and CBT
• Family interventions: educational, support,
• Speech and language therapy, occupational
• Pharmacotherapy: symptom management, eg.
atypical antipsychotics for stereotypies and
aggressive agitation; SSRIs or clomipramine for
compulsive and self-harming behaviors,
depression/anxiety; stimulants for ADHD
• Treat medical conditions (eg. epilepsy).
• Behavioral/ psycho-educational interventions have been
used to treat the core symptom features of autism in the
realms of communication and social interaction.
• Applied Behavioral Analysis (ABA)- A strategy for
developing social skills based on the idea that rewarded
behaviors will be repeated.
• Treatment and Education of Autistic and Related
Communication of Handicapped Children (TEACCH).
Structured teaching approach that uses the child's visual
and rote memory strengths to improve communication,
social and coping skills.
• Picture Exchange Communication System (PECS)-
Helps nonverbal children express themselves,
reduces maladaptive behaviors.
• Play therapy- counseling to help children express
themselves through toys.
• Social stories- an intervention to address
• Sensory integration- provides controlled
sensory input with the goal increased adaptive
behaviors/responses and less agitation.
• Speech therapy- teaches how to communicate
more effectively- how to hold a conversation,
thinking about what the other person in a
conversation understands and believes, and
tuning in to the meta-linguistic signals of the
• Specific forms of medication treatment have been
shown to produce significant improvements in problem
behaviors associated with autism in double blind
placebo-controlled trials in autistic patients.
• Anxiety symptoms, repetitive behaviors as seen in
patients who have obsessions or compulsions, self-
injurious behaviors, and perhaps social
avoidance/withdrawal have been significantly reduced
with the use of SSRIs (fluoxetine, sertraline,
clomipramine, fluvoxamine) and atypical
antidepressants (mirtazapine and venlafaxine).
• Neuroleptics have been shown to reduce irritability,
hyperactivity (risperidone), aggression (haloperidol
low doses and risperidone).
• Stimulants, NMDA antagonists, and alpha-2
noradrenergic receptor agonists have been shown to
decrease hyperactivity and inattention
(methylphenidate, amantadine, clonidine).
• The sometimes exquisite sensitivity of patients who
have autism requires careful initiation, titration, and
monitoring of any psychopharmacologic/
Treatment of associated disorders such as epilepsy and
GI problems should also be carefully monitored.
• In 2006 first time the FDA has approved, risperidone
for the treatment of irritability associated with autistic
disorder, including symptoms of aggression toward
others, deliberate self-injuriousness, temper tantrums,
and quickly changing moods, in children and
adolescents ages 5 to 16 years.
• Autism is a spectrum disorder that is defined
behaviorally as consisting of social and
communication impairments and the presence
of stereotyped behaviors and/or circumscribed
• There is a general consensus that autism has a
variety of etiologies that consist of different
proportions of genetic and environmental
• While some 10% of autism cases are
associated with a defined medical condition
such as fragile X syndrome, the causes of the
remainder of idiopathic autism are currently
• Autism affects the development of several
brain systems. The most common biological
finding is precocious brain development of
the cerebral cortex and amygdala.
• Beyond the nervous system, there appears to
be a variety of dysregulated functions in the
immune system of some individuals with
autism and some mothers of individuals with
• Finally, autism is generally agreed to be a
polygenic disorder, with multiple genes
showing weak association.
“If you would help me, don’t try to change me to fit your world.
Don’t try to confine me to some tiny part of the world that you
can change to fit me. Grant me the dignity of meeting me on
my own terms –
recognise that we are equally alien to each other, and that my
ways of being are not merely damaged versions of yours.
Question your assumptions. Define your terms. Work with
me to build more bridges between us.”
(J. Sinclair : Personal Essay – High Functioning individuals with autism E. Schopler, G. Mesibov, 1992).