AUTISM SPECTRUM

DISORDERS

DR.R.G.ENOCH
MD PSYCHIATRY II YR
GMKMCH, SALEM
TOPICS
 Introduction
 History
 Epidemiology
 Etiopathogenesis
 Clinical features
 Neuroimaging
 Differential diagnosis
 Treatment
 Other disorders in the spectrum
 Conclusion
 Autism spectrum disorder, previously known as the pervasive
developmental disorders, is a phenotypically heterogeneous group of
neurodevelopmental syndromes, with polygenic heritability,
characterized by a wide range of impairments in social
communication and restricted and repetitive behaviors.

 Derived from Greek word ‘autos’ meaning self.

 ICD-10
 F84 Pervasive developmental disorders
 F84.0 Childhood autism
 F84.1 Atypical autism
 F84.2 Rett's syndrome
 F84.3 Other childhood disintegrative disorder
 F84.4 Overactive disorder associated with mental retardation and stereotyped
movements
 F84.5 Asperger's syndrome
 F84.8 Other pervasive developmental disorders
 F84.9 Pervasive developmental disorder, unspecified
 ICD 11
 6A02 Autism spectrum disorder
 6A02.0 Autism spectrum disorder without disorder of intellectual development and with mild or no
impairment of functional language
 6A02.1 Autism spectrum disorder with disorder of intellectual development and with mild or no impairment
of functional language
 6A02.2 Autism spectrum disorder without disorder of intellectual development and with impaired functional
language
 6A02.3 Autism spectrum disorder with disorder of intellectual development and with impaired functional
language
 6A02.4 Autism spectrum disorder without disorder of intellectual development and with absence of
functional language
 6A02.5 Autism spectrum disorder with disorder of intellectual development and with absence of functional
language
 6A02.Y Other specified autism spectrum disorder
 6A02.Z Autism spectrum disorder, unspecified
 HISTORY OF AUTISTIC DISORDER

• The word autism is used by Eugen Bleuler to describe a subset of

schizophrenic patients who were especially withdrawn and self-absorbed.
1908
• American child psychiatrist Leo Kanner, M.D., publishes a paper describing 11
children who were highly intelligent but displayed "a powerful desire for
1943 aloneness" He later names their condition "early infantile autism."

• A German scientist named Hans Asperger describes a "milder" form of autism

now known as Asperger's Syndrome.
1944

• Psychologist Bruno Bettelheim popularizes the term "refrigerator mothers,"

caused autism by not loving their children enough.
1967
 • "Infantile autism" is listed in DSM for the first time
1980

• The movie Rain Man is released – improved public

1988 awareness on autism

• Light it Up Blue was adopted by the United Nations

2007

• The DSM-5 folds all subcategories of the condition into one

2013 umbrella diagnosis of autism spectrum disorder (ASD)
 adopted in 1999 as the universal
sign of autism awareness
 The puzzle pattern reflects the
complexity of the autism
spectrum.
 The different colors and shapes
represent the diversity of the
people and families living with the
condition.
 EPIDEMIOLOGY
 Autism spectrum disorder is typically evident during the second year of life
 However, in milder cases,the disorder is identified at a later age.
 Approximately one third of children exhibit intellectual disability (ID).
 Children who exhibited severe language deficits received an autism spectrum disorder
diagnosis, a year earlier.
 Children with autism spectrum disorder who exhibited repetitive behaviors such as hand-
flapping, toe-walking, and odd play were also identified with autism spectrum disorder
disorders at a younger age than those who did not exhibit such behaviors.
Prevalence
 The first epidemiological study of autism was conducted by Victor Lotter in 1966, who
reported a prevalence rate of 4.5 in 10,000
 Median prevalence rate of about 8 cases per 10,000 children (0.08 percent).
 Because of the delay between onset and diagnosis, the prevalence rates increase with
age.

Sex Distribution
 four times more common in boys than in girls.
 In clinical samples, girls with autism spectrum disorder more often exhibit intellectual
disability than boys.
Social Class
 Although a few early studies supported Kanner's impression of an
association between autism and upper socio-economic status, most
epidemiological studies published in the 1990s have failed to reveal such
association.
 Bias - more educated parents seek referral, families from disadvantaged
backgrounds are still underrepresented in clinical samples.
 Autism clearly is seen in all social classes and in all countries.
 ETIOLOGY AND
PATHOGENESIS
 Genetic factors
 Immunological factors
 Pre and perinatal factors
 Comorbid neurological disorders
 GENETIC FACTORS

 First-degree relatives of affected individuals are 20- to 80-fold more likely to be

affected.
 15 % of cases - known genetic mutation, in most cases, its expression is dependent on
multiple genes.
 Family studies - increased rates of ASD in siblings of an index child, as high as 50 % in
families with two or more children with autism spectrum disorder.
 Siblings of a child with autism are also at increased risk for impairments in
communication and social skills, even when they do not meet criteria for autism
spectrum disorder.
 The concordance rate of autistic disorder in two large twin studies was
1. 36 % in monozygotic pairs versus 0 % in dizygotic pairs in one study
2. 96 % in monozygotic pairs versus 27 % in dizygotic pairs in the second
study.
 neuroligins, shank3, contactin associated protein 2, and neurexin 1, and
fragile X mental retardation 1 (FMR1) gene - critical role for synaptic
formation and function.
 genes that may contribute to autism spectrum disorder are present on chr
2,7,16,17
Syndromes
 Fragile X syndrome, X-linked recessive disorder - present in 2 to 3
percent of individuals with autism spectrum disorder.
 X chromosome - “fragile” , when grown in a special medium deficient
in folic acid, there is a site that commonly fractures.
 The fragile X mutation typically involves a triplet repeat of CGG in the regulatory domain of the gene
FMR1
 The FMR protein (FMRP) contribute to neuronal plasticity and regulation of group I (mGluR). Loss of
FMRP leads to increased mGluR5 signaling activity and adversely affects synaptic plasticity.
 Clinical features - intellectual disability, gross and fine motor impairments, an unusual facies,
macroorchidism, and diminished expressive language ability. Behavioral difficulties include attention
problems, impulsivity, and anxiety.
 Tuberous sclerosis, characterized by multiple benign tumors, autosomal dominant, is found in up to 2
% of children with autism spectrum disorder.
 Biomarkers
 Several biomarkers, results from interactions of genes and environmental factors.
 Biomarkers results from
1. abnormal signaling in the 5-HT system,
2. the mTOR-linked synaptic plasticity mechanisms, and
3. alterations of the GABA inhibitory system.
 The first biomarker identified was serotonin in platelets.
 Platelets acquire 5-HT through SERT (serotonin transporter), as they pass through the intestinal
circulation.
 The genes that mediate SERT (SLC64A), and the 5-HT 2A receptor gene encode the same protein in the
platelets and in the brain. Changes in 5-HT causes alterations in neuronal migration and growth in the
brain.
 Both structural and functional neuroimaging studies have suggested
specific biomarkers.
 Several studies found increased total brain volume in children < 4 years of
age, whose neonatal head circumferences were normal.
 By about age 5 years, however, 15 to 20 % develop macrocephaly.

 One study found an increased size of amygdala in the first few years of life, followed by a decrease in
size over time.
 The size of the striatum has also been found in several studies to be enlarged, with a positive
correlation of striatal size with frequency of repetitive behaviors.
 Immunological Factors

 Several reports have suggested that immunological incompatibility (i.e., maternal

antibodies directed at the fetus) may contribute to autistic disorder.
 The lymphocytes of autistic children react with maternal antibodies, which raises the
possibility that embryonic neural tissues may be damaged during gestation.
 This hypothesis is still under investigation.
 There also have been reports of autism associated with viral infections.
 Considerable controversy has arisen over the question of whether exposure to the
(MMR) immunization might be a causative factor. The bulk of the available evidence
does not support a causative association with immunization.
 Prenatal and Perinatal Factors

 A higher incidence of prenatal and perinatal complications seems to occur in

infants who are later diagnosed with autism spectrum disorder.

Prenatal factors
 advanced maternal and paternal age at birth,
 maternal gestational bleeding,
 gestational diabetes, and
 firstborn baby.
Perinatal risk factors

 birth trauma,
 fetal distress,
 low birth weight,
 low Apgar score,
 congenital malformation,
 ABO or Rh factor incompatibility and
 hyperbilirubinemia.
Many of the obstetrical complications that are which are risk for autism spectrum
disorder are also risk factors for hypoxia, which may be an underlying risk factor
itself.
 Comorbid Neurological Disorders

 EEG abnormalities and seizure disorders occur with greater than expected frequency
 4 to 32 % have grand mal seizures at some time, and
 about 20 to 25 % show ventricular enlargement on (CT) scans.
 Various EEG abnormalities are found in 10 to 83 %, and although no EEG finding is specific
to autistic disorder,
 there is some indication of failed cerebral lateralization.
 The current consensus is that autism spectrum disorder is a set of behavioral syndromes
caused by a multitude of factors acting on the central nervous system.
Psychosocial Theories
 Studies comparing parents of children with autism spectrum disorder with parents of
normal children have shown no significant differences in child-rearing skills.
 Kanner's early speculations that parental emotional factors might be implicated have been
clearly rejected.
Other Etiologies
 Phenylketonuria, neurofibromatosis, and congenital rubella.
 Children with congenital rubella when followed over time, their “autistic-like” features
tend to diminish; exhibit a range of sensory deficits and mental retardation, which
complicate the diagnostic process.
 Postmortem and Neuroimaging Studies

 The social, language, and behavioral problems suggest that the syndrome affects a functionally
diverse set of neural systems. The initial insult is localized, branching off into more pervasive
impairments.
 Those who have difficulty with complex information processing have widespread cortical
abnormalities. Those with emotional deficits and social difficulties have pathology in the limbic
system.
 Postmortem studies - decrease in the no. of Purkinje cells and granule cells in the cerebellum.
These abnormalities, including a lack of gliosis indicates a prenatal origin.
• A series of MRI studies
focusing on the cerebellar
vermis revealed finding of
a decrease in the
midsagittal area of vermal
lobules VI and VII.

 Limbic system - decreased neuronal size, decreased dendritic arborization, and

increased neuronal packing density of neurons
 More recent studies - amygdala enlargement in autism and a decrease in total neuron
number.
 One hypothesis is that autism is largely caused by abnormalities in the amygdala–
cortical loops system that can regulate social–cognitive processes and social–
perceptual processes.
 Functional MRI (fMRI) studies

 they focus more on the mouth region rather than on the eye region and rather than scan the entire
face focus more on individual features of the face.
 In response to socially relevant stimuli, they have greater amygdala hyperarousal.
 Tasks involving "theory of mind," that is, the ability to attribute emotional states to others, fMRI
studies find the right temporal lobe and other areas become activated in controls. This difference has
been hypothesized as due to dysfunction of the mirror neuron system (MNS).
 Atypical patterns of frontal lobe activation have been found during face processing tasks
 DIAGNOSIS AND
CLINICAL FEATURES
 DSM-5 Diagnostic Criteria
 A. Persistent deficits in social communication and social interaction across multiple contexts,
as manifested by the following,
 1 . Deficits in social-emotional reciprocity
 2 . Deficits in nonverbal communicative behaviors used for social interaction
 3 . Deficits in developing, maintaining, and understanding relationships
 B. Restricted, repetitive patterns of behavior, interests, or activities as manifested by at least
two of the following
 1 . Stereotyped or repetitive motor movements, use of objects, or speech
 2 . Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or
nonverbal behavior
 3 . Highly restricted, fixated interests that are abnormal in intensity or focus
 4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the
environment
 C. Symptoms must be present in the early developmental period
 D. Symptoms cause clinically significant impairment in social, occupational,
or other important areas of current functioning.
 E. These disturbances are not better explained by intellectual disability
Specify if:
 With or without accompanying intellectual impairment
 With or without accompanying language impairment
 Associated with a known medical or genetic condition or environmental factor
 Associated with another neurodevelopmental, mental, or behavioral disorder
 With catatonia
1. Persistent Deficits In Social Communication and Interaction.

 may not develop a social smile

 older babies may lack the anticipatory posture for being picked up by a caretaker.
 Less frequent and poor eye contact.
 The social development is characterized by atypical, attachment behavior.
 may not differentiate the most important persons in their lives-parents, siblings, and
teachers
 may not react strongly when left with a stranger compared to others.
 often display extreme anxiety when their usual routine is disrupted.
By the School age,
 observable deficit in spontaneous play with peers.
 a lack of conventional back and forth conversation, fewer shared interests, and fewer body
and facial gestures during conversations.
 Cognitively, more skilled in visualspatial tasks than verbal reasoning.
 an impaired ability to interpret the emotional state of others around them ("theory of
mind").
 generally desire friendships, and higher functioning children may be aware that their lack
of spontaneity and poor skills in responding to the emotions and feelings of their peers are
major obstacles in developing friendships.
2. Restricted, Repetitive Patterns of Behavior, Interests, and
Activities.
From the first years of life, in a child with autism spectrum disorder,
 developmentally expected exploratory play is restricted and muted.
 Toys and objects are often manipulated in a ritualistic manner
 do not show the level of imitative play
 The activities and play are more rigid, repetitive, and monotonous than their peers.
In early and middle childhood.
 often seem to enjoy spinning, banging, and watching water flowing.
 Frank compulsive behaviors, such as lining up objects, and
 may exhibit a strong attachment to a particular inanimate object.
 Children with autism spectrum disorder who are severely intellectually
disabled have increased rates of self-stimulatory and self-injurious behaviors.
 Stereotypies, mannerisms, and grimacing emerge most frequently
 Often find transitions and changes intimidating. Moving to a new house,
rearranging furniture in a room, may evoke panic, fear, or temper tantrums in
a child with autism spectrum disorder.
 ASSOCIATED PHYSICAL CHARACTERISTICS

 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.
 Do not show early handedness and lateralization, and remain ambidextrous at
an age when cerebral dominance is established in most children.
 Have a higher incidence of abnormal dermatoglyphics (e.g., fingerprints) than
those in the general population. This finding may suggest a disturbance in
neuroectodermal development.
ASSOCIATED BEHAVIORAL
SYMPTOMS
 1. Disturbances In Language Development and Usage.

 Is characteristic of more severe subtypes of autism spectrum disorder.

 Have significant difficulty putting meaningful sentences together, even when they have
large vocabularies.
 learn to converse fluently, their conversations are without typical prosody or inflection.
 In the first year of life, a typical pattern of babbling may be minimal or absent.
 Some children vocalize noises---clicks, screeches, or nonsense syllables in a stereotyped
fashion, without a seeming intent of communication.
 Words and even entire sentences may drop in and out. They use a word once and then not use it
again for a week, a month, or years.
 Speech may contain echolalia, both immediate and delayed, or stereotyped phrases that seem out
of context.
 Frequent pronoun reversals are present. A child with autistic disorder might say, "You want the toy"
when she wants it.
 About 50 percent of autistic children never develop useful speech. Some of the brightest children
show a particular fascination with letters and numbers.
 excel in certain tasks or have special abilities; for example, a child may learn to read fluently at
preschool age (hyperlexia), often astonishingly well.
2. Intellectual Disability.
 About 30 % of children have Intellectual Disability.
 Of those, about 30 % - mild to moderate range, and about 45 to 50 % - severely to
profoundly intellectually disabled.
3. Irritability.
 Irritability includes aggression, self-injurious behaviors, and severe temper tantrums.
 Occurs during transition from one activity to another, sit in a classroom setting, or remain
still when they desire to run around.
 In children with intellectual deficits, aggression may arise unexpectedly without an
obvious trigger, and self-injurious behaviors such as head banging, skin picking, and biting
oneself may also be noted.
4. Instability of Mood and Affect.
 Some children with autism spectrum disorder exhibit sudden mood changes, with bursts of
laughing or crying without an obvious reason.
5. Response to Sensory Stimuli.
 Overrespond to some stimuli and underrespond to other sensory stimuli.
 A child may appear deaf, showing little response to a normal speaking voice; the same child
may show intent interest in the sound of a wristwatch.
 Some children have a heightened pain - even do not respond to an injury by crying or
seeking comfort.
 Some particularly enjoy vestibular stimulation-spinning, swinging, and up-and-down
movements.
6. Hyperactivity and Inattention.
 Hyperactivity and inattention are both common behaviors in young children.
 Short attention span, poor ability to focus on a task, interfere with daily functioning
7. Precocious Skills.
 Some individuals with autism spectrum disorder have precocious or splinter skills of
great proficiency, such as rote memories or calculating abilities, usually beyond the
capabilities of their normal peers.
 Other potential precocious abilities include hyperlexia, an early ability to read well ,
memorizing and reciting, and musical abilities.
8. Insomnia.
 Insomnia occur in 44 to 83 percent of school-aged children.
 Behavioral interventions include modification of parental behaviour training, and removing
reinforcers for remaining awake.
 Medication - melatonin in doses ranging from 1 mg fast-release to 4 mg controlled-release.
Minor Infections and Gastrointestinal Symptoms
 Have higher incidence of upper respiratory infections and other minor infections.
 Gastrointestinal symptoms - excessive burping, constipation, and loose bowel movements.
 Increased incidence of febrile seizures.
 LABORATORY EXAMINATION

 A variety of EEG abnormalities may be seen in autism, including diffuse and focal spikes,
paroxysmal spike-and-wave patterns, multifocal spike activity, and a mixed discharge.
 abnormal EEGs is significantly higher in mentally retarded autistic individuals.
 High incidence of EEG abnormalities and seizure disorders in autism was one of the first
compelling evidence of a biological basis.
 Abnormalities of cognitive potentials, particularly the auditory P300 (which represents the
brain's processing of sensory stimuli), have been shown to be abnormal in autism. This
presumably reflects abnormalities in higher auditory processing and neural pathways
 ASSESSMENT TOOLS
 The Child Autism Rating Scale (CARS)
 The Autism Diagnostic Observation Schedule (ADOS)
 Autism Detection in Early Childhood (ADEC)
 The Autism Diagnostic Interview – revised (ADI-R)
 The Social Communication Questionnaire (SCQ).
 Ages and Stages Questionnaires (ASQ)
 Parent’s Evaluation of Development Status (PEDS)
 Modified Checklist for Autism in Toddlers (M-CHAT)
 Screening Tool for Autism in Toddlers and Young Children (STAT)
 Indian Scale for Assessment of Autism

Domains
 social relationship and reciprocity;
 emotional responsiveness;
 speech, language and communication;
 behavior patterns;
 sensory aspects and
 cognitive component.
DIFFERENTIAL DIAGNOSIS
1. Social (Pragmatic) communication disorder

This disorder is characterized by

 cant understanding the rules of social communication through language,
 lack of conventional greeting others,
 Can’t take turns in a conversation, and
 respond to verbal and nonverbal cues of a listener.
 found with greater frequency in relatives of individuals with autism spectrum disorder.
 This disorder does not include restricted or repetitive behaviors and interests, as autism
spectrum disorder does.
2. Childhood Onset Schizophrenia
 3. Intellectual Disability with Behavioral Symptoms

 display global impairments in both verbal and nonverbal areas, whereas children with
autism spectrum disorder are relatively weak in social interactions compared to other
areas of performance.
 Children with intellectual disability generally relate verbally and socially to adults and
peers in accordance with their mental age.
 4. Language Disorder

Impairments in processing of linguistic information

Criteria Autism Spectrum Language Disorder

Disorder
Sex ratio (M:F) 4:1 1:1
Associated deafness Infrequent Frequent
Nonverbal communication Impaired Active
Language abnormalities (e.g., Present Uncommon
echolalia, stereotyped phrases
out of context)
Intellectual impairment Impaired Uncommon
Impaired social communication, Present Absent
restricted and repetitive
behaviors
5. Congenital Deafness or Hearing Impairment

 infants with autism spectrum disorder may babble only infrequently, whereas deaf infants often have a
normal babbling that gradually tapers off and stop at 6 months to 1 year of age.
 Deaf children generally respond only to loud sounds, whereas children with autism spectrum disorder
may ignore loud or normal sounds and respond to soft sounds.
 Deaf children seek out nonverbal social communication
 audiogram or auditory-evoked potentials indicate significant hearing loss in deaf children.
 COURSE AND PROGNOSIS

 Autism spectrum disorder is typically a lifelong disorder with a highly variable severity
and prognosis.
 IQs > 70 with average adaptive skills, who develop communicative language by ages 5 to
7 years, have the best prognoses.
 Early intensive behavioral interventions lead to recovery and function in the average
range.
 Ritualistic and repetitive behaviors do not seem to improve substantively over time.
 The prognosis improves if the home environment is supportive.
TREATMENT
 PSYCHOSOCIAL INTERVENTIONS

 A. Early intensive behavioral and developmental interventions

 B. Social skills approaches

 C. Behavioral interventions and cognitive behavioral therapy for repetitive behaviors

and associated symptoms

 D. Interventions for comorbid symptoms

 E. Educational interventions

 PSYCHOPHARMACOLOGICAL INTERVENTIONS
PSYCHOSOCIAL INTERVENTIONS
A. Early intensive behavioral and developmental interventions
1. UCLA/Lovaas-based Model.

 intensive and manualized intervention

 primarily utilizes techniques derived from applied behavior analysis
 is administered on a one to-one basis for many hours per week.
 A therapist and a child will work on practicing specific social skills, language usage, and other
target play skills, with reinforcement and rewards provided for accomplishments and mastery of
skills.
2. Early Start Denver Model (ESDM)
 Interventions are administered in naturalistic settings such as in day care, at home, and during
play with other children.
 Parents are typically taught to be co-therapists and provide the training at home
 develop basic play skills and relationship skills, and applied behavior analysis techniques are
integrated into the interventions.
 This approach is focused on training for very young children and is applied within the context
of the child's daily routine.
3. Parent Training Approaches
 This includes Pivotal Response Training, in which parents are taught to
facilitate social and communication development within the home
 targets gateway or pivotal social behaviors for mastery by the child, so that a
natural generalizing of social behaviors would follow.
 Other parent training approaches focus on language acquisition, once parents
are trained, the interventions occur throughout the day with the child.
 Another example of a parent training approach is the Hanen More Than Words
Program.
B. Social skills approaches

1. Social Skills Training.

 Typically provided by therapist to children of various ages in a group
setting;
 children are given guided practice in initiating social conversation,
greetings, initiating games, and joint attention.
 Emotion identification and regulation are often included and learning
how to label emotions in given social situations, how to attribute
emotional reactions in others
 The goals are that with practice in the group setting, the child will be
able to use the techniques in day to day settings.
C. Behavioral interventions (bis) and cognitive behavioral therapy (cbt)
for repetitive behaviors and associated symptoms

1. Behavioral Therapy.
 Applied behavioral analysis has been found to be somewhat effective
in reducing some repetitive behaviors
 Early intervention is recommended for repetitive behaviors that are
self-injurious;
 behavioral interventions may need to be combined with
pharmacologic treatments to adequately manage the symptoms.
2. Cognitive-Behavioral Therapy.
 There is a significant evidence from RCTs for the efficacy of CBT for symptoms
of anxiety, depression, and obsessive-compulsive disorders in children.
 There are fewer controlled trials of this treatment in children with autism
spectrum disorder
 there are at least two published studies in which CBT was used to treat
repetitive behavior in individuals with autism spectrum disorder.
D. Interventions for comorbid symptoms

1. Neurofeedback.
 This modality has been administered in an attempt to influence
symptoms of ADHD, anxiety, and increased social interaction
 by providing computer games in which the desired behavior is reinforced
 the child wears electrodes that monitor electrical activity in the brain.
 The aim is to to prolong the electrical activity present during the desired
behaviors
2. Management of insomnia in autism spectrum disorder.
 Both behavioral and pharmacologic interventions may be administered.
 The most common behavioral intervention is changing the parents behavior first toward the child at
bedtime and throughout the night
 reinforcement and attention for being awake should be removed, leading to a gradual extinction of
the "staying awake" behavior.
 Several studies using massage therapy before bedtime provided an improvement in falling asleep and
a sense of relaxation.
E. EDUCATIONAL INTERVENTIONS
1. Treatment and Education of Autistic and
Communication related Handicapped children (TEACCH).
 Originally developed at the University of North Carolina
at Chapel Hill in the 1970s
 TEACCH involves structured teaching based on the
notion that children with autism spectrum disorder have
difficulty with perception
 incorporates many visual supports and a
picture schedule to aid in teaching
academic subjects as well as socially
appropriate responses.
 The physical environment is arranged to
support visual learning, and the day is
structured to promote autonomy and
social relatedness.
2. Computer-based approaches and virtual reality.
 centered on using computer-based programs, games to teach language acquisition
and reading skills.
 This provides the child with a behaviorally based instruction that is appealing for
the child.
 The Let's Face It! program is a computerized game that helps to teach to recognize
faces.
 It consists of seven interactive computer games that target changes in facial
expression, attention to the eye region of the face, holistic face recognition, and
identifying emotional expression.
 The trained children had improvement in
their ability to focus on the eye region of
a face and improved their face-
processing skills.
 Several studies using virtual reality
environments have provided evidence of
their value.
 In one study, a virtual cafe for children
allowed the children to practice ordering
and paying for drinks and food by
navigation with the use of a computer
mouse.
 PSYCHOPHARMACOLOGICAL
INTERVENTIONS

 Psychopharmacological interventions in autism spectrum disorder are mainly

directed at associated behavioral symptoms rather than core features of
autism spectrum disorder.
 Target symptoms include irritability, including aggression, temper tantrums
and self-injurious behaviors, hyperactivity, impulsivity, and inattention.
1. Irritability.
 Two second-generation antipsychotics, risperidone and aripiprazole, have been approved by the FDA.
 Risperidone is considered the first-line of treatment for severe irritability in doses ranging from 0.5 mg to
1 .5 mg.
 Despite its efficacy, risperidone has side effects of weight gain and increased appetite; metabolic side
effects such as hyperglycemia, prolactin elevation; along with other common adverse effects such as
fatigue, drowsiness, dizziness, and drooling.
 Risperidone should be used with caution in individuals with underlying cardiac abnormalities or
hypotension, since risperidone may contribute to orthostatic hypotension.
 persistent efficacy and tolerability were found over a 6-month period
 rapid return of symptoms in good responders when the risperidone was discontinued.
 Other drugs studied in the treatment of irritability include aripiprazole and
olanzapine.
 aripiprazole - found efficacious and safe in doses ranging from 5 mg to 15 mg
per day.
 Main side effects included sedation, dizziness, insomnia, akathisia, weight
gain approximately 1.3 to 1.5 kg gained during an 8-week study period.
 Olanzapine, reduced irritability ; however, significant weight gain of
approximately 3.5 kg and sedation occured
2. Hyperactivity, lmpulsivity, and Inattention.

 Methylphenidate was moderately efficacious at doses of 0.25 to 0.5 mg/kg for youth with autism spectrum
disorder and ADHD symptoms.
 Efficacy of methylphenidate was less effective in children with ADHD with autism spectrum disorder, than
without autism spectrum disorder.
 Children with autism spectrum disorder developed more frequent side effects, including increased
irritability, compared to ADHD children.
 Side effects include increased stereotypies, gastrointestinal upset, sleep problems, and emotional lability.
 Among nonstimulants, atomoxetine was found more effective than placebo. Side effects included sedation,
irritability, constipation, and nausea.
 Clonidine, an a-agonist has also been studied in children with autism spectrum disorder for the treatment of
hyperactivity with mixed results.
 Guanfacine was also found to be of use in some cases.
3. Repetitive and Stereotypic Behavior.
 These core symptoms of autism spectrum disorder have been studied using selective
serotonin reuptake inhibitor (SSRI) antidepressants, second-generation antipsychotics
(SGAs), and mood-stabilizing agents such as valproate.
 Fluoxetine was found only slightly better than the placebo.
 Risperidone, was found to be effective in targeting restrictive and repetitive behaviors
along with irritability
4. Agents Administered For Behavioral Impairment Based On Open Trials.
 Quetiapine is tried when risperidone and olanzapine are not efficacious or well tolerated.
50 to 200 mg/day. Adverse effects include drowsiness, tachycardia, agitation, and weight
gain.
 Clozapine - aggression and self-injurious behavior when they coexist with psychotic
symptoms. The most serious adverse effect is agranulocytosis. Its use is generally limited
to treatment-resistant psychotic patients.
 Ziprasidone in treatment resistant children. Adverse effects include sedation, dizziness,
and lightheadedness.
 Lithium is used for aggressive or self-injurious behaviors when antipsychotic medications
are not effective.
5. Agents Used For Behavioral Impairment In Autism Spectrum Disorder Without
Evidence Of Efficacy.
 Amantadine, which blocks NMDA receptors, has been studied for the treatment of
irritability, aggression, and hyperactivity with significant improvement.
 Some researchers have suggested that abnormalities of the glutamatergic system
may contribute to the emergence of autism spectrum disorders.
 Clomipramine has also been used in, but there are no RCTs.
 Naltrexone based on the notion that blocking endogenous opioids would reduce
autistic symptoms.
 Tetrahydrobiopterin, in a daily dose of 3 mg/kg significant improvement in social
interaction score after 6 months of active treatment.
 low-dose venlafaxine (Effexor) was efficacious in autistic disorder with self-injurious
behavior and hyperactivity. 18 .75 mg per day
Complementary and Alternative Medicine (CAM) Approaches
 Safe interventions that have been applied to target both core and associated behavioral
features include :
 music therapy, to promote communication and expression; and
 yoga, to promote attention and decrease activity level.
 Melatonin reduces sleep-onset latency in children that is deemed safe and shown to be
efficacious
 Other agents with unknown efficacy include vitamin C, multivitamins, essential fatty acids,
and the amino acids carnosine and carnitine.
 RETT SYNDROME

 Found by Andreas Rett.

 progressive condition after some months of normal development.
 Head circumference is normal at birth and developmental milestones are unremarkable in early
life.
 Generally between 6 months and 2 years, head growth begins to decelerate.
 prevalence of 6 to 7 cases per 100,000 girls.
Etiology.
 The cause of Rett syndrome is unknown, although the progressive
deteriorating course after an initial normal period is compatible with a
metabolic disorder.
 In some patients with Rett syndrome, the presence of hyperammonemia has
led to postulation that an enzyme metabolizing ammonia is deficient in Rett
syndrome.
 It is likely that Rett syndrome has a genetic basis.
 It has been seen primarily in girls, and case reports so far indicate complete
concordance in monozygotic twins.
Diagnosis and Clinical Features.

 The signs often include the loss of purposeful hand movements,

 stereotypic motions, such as hand-wringing; licking or biting the fingers and tapping
 the loss of previously acquired speech; psychomotor retardation; and ataxia.
 The head circumference growth decelerates and produces microcephaly.
 All language skills are lost, and both receptive and expressive communicative and social skills
seem to plateau at developmental levels between 6 months and 1 year.
 seizures in up to 75 percent of affected children
 irregular respiration, with episodes of hyperventilation, apnea, and breath holding while
they are awake; during sleep, the breathing usually normalizes.
 muscle tone changes from an initial hypotonic condition to spasticity to rigidity.
 after 10 years, many patients are wheelchair-bound, with muscle wasting, rigidity, and no
language ability.
 Criteria Rett syndrome Autism Spectrum
Disorder
Developmental Deterioration of Aberrant development is
milestones Head circumference, and usually present from early
overall growth on.

Hand motor movements Always present May or may not appear

Poor coordination, ataxia, Present Gross motor function is
and apraxia good
Verbal abilities Lost completely Variable from markedly
aberrant to relatively mildly
impaired

Respiratory irregularity Characteristic Absent

Seizures Often appear early Seizures do not develop in
most patients
Treatment.
 Treatment is symptomatic.
 Physiotherapy has been beneficial for the muscular dysfunction, and
 anticonvulsant treatment is usually necessary to control the seizures.
 Behavior therapy, along with medication, may help control self-injurious
behaviors, as it does in the treatment of autistic disorder, and it may help
regulate the breathing disorganization.
 CHILDHOOD DISINTEGRATIVE DISORDER

 It is characterized by marked regression in intellectual, social, and language functioning

after at least 2 years of apparently normal development.
 also called Heller’s syndrome and disintegrative psychosis,
Epidemiology.
 The prevalence 1 in 100,000 boys.
 The ratio of boys to girls is 4 and 8 boys to 1 girl.
Etiology.
 The cause of childhood disintegrative disorder is unknown, but it has been associated
with other neurological conditions, including seizure disorders, tuberous sclerosis, and
various metabolic disorders.
Diagnosis and Clinical Features.
 onset from ages 1 to 9 years, but in most, the onset is between 3 and 4 years.
 To receive the diagnosis, a child must exhibit loss of skills in two of the following areas:
language, social or adaptive behavior; bowel or bladder control; play; and motor skills.
 Abnormalities must be present in both of the following categories: reciprocal social
communication skills, and restricted and repetitive behavior.
 The main neurological associated feature is seizure disorder.
Differential Diagnosis.

 Before the onset of childhood disintegrative disorder, language has usually progressed
to sentence formation. Whereas in autistic disorder, in whom language generally does
not exceed single words or phrases before diagnosis of the disorder. Once the disorder
occurs, however, those with childhood disintegrative disorder are more likely to have
no language abilities.
 In Rett syndrome, the deterioration occurs much earlier than in childhood
disintegrative disorder, and the characteristic hand stereotypies of Rett syndrome do
not occur in childhood disintegrative disorder.
Course and Prognosis.
 The course of childhood disintegrative disorder is variable, with
• a plateau reached in most cases,
• a progressive deteriorating course in rare cases, and
• some improvement in occasional cases to the point of regaining the ability to
speak in sentences.
 Most patients are left with at least moderate mental retardation.
Treatment.
 Treatment of childhood disintegrative disorder includes the same components
available in the treatment of autistic disorder.
 ASPERGER'S DISORDER

 The former diagnosis of Asperger's disorder is characterized by impairment of

social interaction and restricted interest and behavior.
 Unlike the former autistic disorder, in Asperger's disorder there are no
significant delays in language or cognitive development.
 In 1944, Hans Asperger, an Austrian physician, described a syndrome that he
named "autistic psychopathy."
Etiology.
 Asperger's disorder, a version of autism spectrum disorder, has a complex
etiology including genetic contribution and potentially environmental and
perinatal contributing factors.
Diagnosis and Clinical Features.
The clinical features include at least two of the following indications of
qualitative social impairment:
 Markedly abnormal nonverbal communicative gestures,
 the failure to develop peer relationships at the expected level.
 Restricted interests and patterns of behavior are present,
 exhibit no language delay or adaptive impairment.
Course and Prognosis.
 The factors associated with a good prognosis are a normal IQ and more competencies
in social skills.
 Reports of some adults diagnosed with Asperger's disorder indicate that their social
and communication deficits remain and appear socially uncomfortable.
Treatment.
 Treatment aims to promote social communication and peer relationships.
 Very often children with Asperger's disorder are highly verbal and have excellent
academic achievement.
 rely on rigid rules and routines can become a source of difficulty for them and
requires therapeutic intervention.
 Self-sufficiency and problem-solving techniques are often helpful for these individuals
in social situations and work settings.
 PERVASIVE DEVELOPMENTAL DISORDER NOS

 severe, pervasive impairment in communication skills or

 the presence of restricted and repetitive activities and
 associated impairment in social interactions,

Treatment.
 The treatment approach is identical to that of other autism spectrum disorder.
 Mainstreaming in school may be possible.
 Compared with autistic children, have less impairment in language skills and more self-
awareness.
 CONCLUSION
 Our perception of autism has evolved over time. Sixty years ago autism was
considered as developmental delay or mental retardation.
 Today it is recognized as an independent neurologically based disorder of
significance, a major public health problem, and a topic of much research.
 Researchers have struggled to find a cause for the disorder without great success.
 Despite this difficulty, research continues in ever more sophisticated directions.
 Numerous treatments have been developed that help children with autism to
maximize their potential to learn and become socially fluent.
SUMMARY
 Autism spectrum disorder, is a phenotypically heterogeneous group of neurodevelopmental syndromes
 The etiology includes Genetic factors, Immunological factors, Pre and perinatal factors, Comorbid
neurological disorders.
 Persistent deficits in social communication and social interaction and Restricted, repetitive patterns of
behaviour.
 The treatment includes behavioural, social skill, educational, pharmacological approaches.
 Rett syndrome - onset after 6 months of normal development with loss of purposeful hand movements,
stereotypic motions, the loss of previously acquired speech, irregular respiration, rigidity.
 Childhood disintegrative disorder - marked regression in intellectual, social, and language functioning, bowel
or bladder control after 2 years of normal development.
 Asperger's disorder qualitative impairment in reciprocal social interaction and behavioral oddities without
delays in language development
REFERENCES

 Kaplan and Sadocks Comprehensive textbook of Psychiatry – 9, 10th Edition

 Kaplan and Sadocks Synopsis of Psychiatry – 11th Edition
 Postgraduate Textbook of Psychiatry – Neeraj Ahuja, 3rd Edition
Theme 2018: "Empowering women and girls
with autism"