AUTISM SPECTRUM

DISORDER

GUIDE – DR PALI RASTOGI SIR PRESENTED BY- DR. PRIYASH JAIN

ASSOCIATE PROFESSOR
MGMMC AND MYH
INDORE
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CONTENT
• Introduction
• Epidemiology
• Etiology
• Classification
• Course and Prognosis
• Treatment

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INTRODUCTION
• The Autism spectrum disorder, previously known as pervasive
developmental disorder, is phenotypically heterogeneous group of
neurodevelopmental syndrome with polygenic inheritance.

• Early onset conditions characterized by triad

• impaired social and communicative skill,
• restricted and repetitive behaviors,
• language aberration.

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INTRODUCTION
• Autism spectrum disorder (ASD) is a new DSM-5 name that reflects a scientific
consensus that four previously separate disorders are actually a single
condition with different levels of symptom severity in two core domains.

• ASD now encompasses the previous DSM-IV autistic disorder (autism),

Asperger’s disorder, childhood disintegrative disorder, and pervasive
developmental disorder not otherwise specified.

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 EPIDEMIOLOGY
• It is estimated that worldwide one in 160 children has an ASD

• Prevalance Rate: Approx. 1 in 500 or 0.20% or more than 2,160,000 people in India.
• Incidence Rate: Approx. 1 in 90,666 or 11,914 people in India.

• Boys to girls ratio is 4.0 to 1.

• Ratio varies in relation to intellectual functioning. Male to female ratios is 6.0 or
higher to 1 in individuals with autism without mental retardation.
• Ratios within the moderately to severely mentally retarded range have been
reported to be as low as 1.5 to 1.
www.rehabcouncil.nic.in/writereaddata/autism
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 ETIOLOGICAL VARIABLES
•Multifactorial Inheritance
•Environmental Factor & Genetic Interaction

Genetic • Environmental Factors

• Autosomal • Toxins; Gene Mutation
dominant/recessive • Trauma
• Sex-linked
• Diets; Foods
dominant/recessive
• Radiation
• Lead
• Chemicals in Groundwater

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ETIOLOGY

• Psychosocial Theories: Emotional factors; “refrigerator” (cold) mother who

was not responsive to the child's emotional needs.Unfortunately no evidence
supported this theory.

• Biological theories : Association of mental retardation and seizure disorders

in high proportion suggest that autism is a behavioral syndrome caused by
one or more factors acting on the central nervous system (CNS).

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GENETICS

• Scientists have observed a concordance for autism of about 60% to 90% in

monozygotic twins.
• They have also observed a concordance for autism of about 5% to 10% in dizygotic
twins .
• Heredity or genetic factors are responsible for the 90% of autism cases.
• Similar results, from family research, show that the percentage of autistic siblings is
about 2% to 7%, much higher than the percentage in general population (0.5%).

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GENETICS

• Recent specific findings regarding

• neuroligins,
• shank3,
• contactin associated protein 2, and
• neurexin 1,
• Evidence of multiple genetic subtypes, Show support for autism gene on chromosome
7, less compelling evidence for gene on chromosome 3,4,11

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NEUROCHEMISTRY

• Increase in peripheral level of serotonin, significance is unclear.

• Hyperdopaminergic state of brain explain over activity and stereotyped movement seen in autism.

• Dopamine blockers are effective in reducing the stereotyped behavior.

• Possibilty that endogenous opioid cause social withdrawal and unusual sensitivity to enviroment,This
was rationale for use of naltrexone(opioid antagonist) in treating children with autism.

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 INCREASED ASD RISK FACTORS
• Paternal Age
• Children of men age 40 and older – significant increased risk than those under 30 6 times greater
• Older age in mothers not associated with autism
• Question spontaneous mutation in sperm
Archives of General Psychiatry – Sept 2006

• Maternal use of Antidepressants during pregnancy

• Antidepressant use during 2nd and 3rd trimester may have 87% increased risk of having child with autism
• Selective serotonin reuptake inhibitors (SSRIs) particularly associated with ASD diagnosis
• Serotonin involved in numerous pre and postnatal developmental processes, including creation of links between
brain cells

JAMA paediatric (Journal of the American Medical Association), 2015 16/ 67

 NEW RESEARCH BREAKTHROUGHS

• Polychlorinated biphenyls (PCBs)

• Found in many consumer product (e.g., plastics, electronics)
• Disrupt normal patterns of neural connections in brain
• Increased levels of one PCB – PCB95 – in those with autism linked to a known genetic disorder.
• Curiously, they were all born after 1980, or after PCBs were banned. This is important because it supports other
findings that PCBs persist in the environment and are detected in tissues from individuals born after they should
not have been directly exposed.
• Exposure leads to overabundance of dendrites and disrupts neuronal connection patterns

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 DO VACCINES CAUSE AUTISM?

• Danish Study suggests no link between autism and thimerosol an organomercury compound and
established antiseptic and antifungal agent

• Eliminated from vaccines in 2001; no decline in incidence of autism

• Non-vaccinated children at greater risk to contract viral infections

• Estimated 1 in 4 children in US in compliance with vaccination guidelines due to fear of ASD

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NOSOLOGY
• As per ICD-10 Classified under Disorders of psychological development.
• F84 Pervasive developmental disorders
1. F84.0 Childhood autism
2. F84.1 Atypical autism
3. F84.2 Rett's syndrome
4. F84.3 Other childhood disintegrative disorder
5. F84.4 Overactive disorder associated with mental retardation and stereotyped movements
6. F84.5 Asperger's syndrome
7. F84.8 Other pervasive developmental disorders
8. F84.9 Pervasive developmental disorder, unspecified

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 DSM-V : AUTISM SPECTRUM DISORDER 299.00 (F84.0)

• A. Persistent deficits in social communication and social interaction across multiple

contexts.
1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social
approach and failure of normal back-and-forth conversation; to reduced sharing of
interests, emotions, or affect; to failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for
example, from poorly integrated verbal and nonverbal communication; to
abnormalities in eye contact and body language or deficits in understanding and use of
gestures: to a total lack of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships, ranging, for ex­
ample, from difficulties adjusting behavior to suit various social contexts; to difficulties
in sharing imaginative play or in making friends; to absence of interest in peers.
Specify current severity: Severity is based on social communication impairments and
restricted, repetitive patterns of behavior
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• B. Restricted, repetitive patterns of behavior, interests, or activities.

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor
stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal
behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting
rituals, need to take same route or eat same food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or
preoccupation with unusual objects, excessively circum­scribed or perseverative interests).
4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment
(e.g., apparent indifference to pain/temperature, adverse re­sponse to specific sounds or textures, excessive
smelling or touching of objects, visual fascination with lights or movement).
Specify current severity: Severity is based on social communication impairments and restricted, repetitive
patterns of behavior .

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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. Intellectual disability and autism
spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and
intellectual disability, social communication should be below that expected for general developmental level.

• 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
• Specify current severity for Criterion A and Criterion B: Requiring very substantial support. Requiring substantial support.
Requiring support
• With catatonia

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AGE AT ONSET
• The onset of autism is almost always before age 3 .

• Parents typically become concerned between the ages of 12 and 18 months as language fails to
develop.

• Although there may be concern that the child is deaf, the parents also note the child may respond quite
dramatically to sounds in the inanimate environment.

• Occasionally, parents report, in retrospect, that the child was “too good,” made few demands, and had
little interest in social interaction.

• Occasionally, parents report that the child seemed to develop some language, and, then, his or her
language either plateaued or was lost;

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 PRIMARY SYMPTOMS

• Communication: 40% mute / nonverbal / apraxia

Echolalia, Perseveration, Jargon, Monotone

• Social interaction: Abnormal Relationships
Difficulty relating to self, others, environment
• Stereotyped Behaviors: Rituals & Routines
Insistence on sameness
• Abnormal Sensory Response: Hypersensitive
Hyposensitive

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SENSORY SYSTEM DIFFERENCES
• Hyper (over) and Hypo (under) responsiveness to sensory stimuli
• Tactile defensiveness
• Hyperacusis
• Picky eating
• Self-regulation problems with sensory stimulation
• Fail to modulate volume
• Seek inappropriate sensory stimulation
• Hypotonia
• Low muscle tone
• Fine motor deficits
• Gross motor deficits

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QUALITATIVE IMPAIRMENT IN SOCIAL
INTERACTION
• In infants and young children with autism, the human face holds little
interest.
• For example, the child may not engage in the usual games of infancy, may
have difficulties with imitation, and may lack usual play skills. These deficits
are highly distinctive and are not just due to associated developmental delay.
• Younger one is more avoidant or aloof from interaction, whereas older or
more advanced are willing to passively accept interaction but do not seek it
out and most able individuals with autism, there is often social interest, but
can not handle the complexities of social interaction.

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QUALITATIVE IMPAIRMENT IN VERBAL AND
NON-VERBAL COMMUNICATION
• 30 to 40 % never use language for communication.
• Most frequent presenting complaint of parents is delay in the acquisition of
language .
• Usual patterns of language acquisition are observed (e.g., children with
autism may not babble or may take the parent's hand to obtain a desired
object without making eye contact). In contrast to the child with a language
disorder, there is no apparent motivation to engage in communication or
attempt to communicate via nonverbal means.

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QUALITATIVE IMPAIRMENT IN VERBAL AND
NON-VERBAL COMMUNICATION
• When individuals with autism do speak, their language is remarkable in various ways (echolalia).
• Speech tends to be
1. less flexible (there is no appreciation that change in perspective or speaker requires pronoun
change)
• Parent: What are you doing, Johnny?
• Child: You're here.
• Parent: Are you having a good time?
• Child: You sure are.
2. nonreciprocal in nature, (the child produces language that is not meant as communication ,
Although the syntax and morphology of language are relatively spared)

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QUALITATIVE IMPAIRMENT IN VERBAL AND
NON-VERBAL COMMUNICATION
3. vocabulary and semantic skills may be slow to develop and
4. aspects of the social uses of language (pragmatics) are particularly challenging
(humor and sarcasm may be a source of confusion as they fail to interpret intent)
5. intonation is monotonic and robot-like.
• Deficits in play may include a failure to develop usual patterns of symbolic–
imaginative play.
• The autistic child may explore nonfunctional aspects of play materials (e.g., taste or
smell) or use aspects of materials for self-stimulation (spinning the tires on a toy
truck).

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 MARKEDLY RESTRICTED ACTVITIES AND
INTEREST
• Difficulty tolerating change and variation in routine producing catastrophic distress on the part of the child.

• An interest in a repetitive activity, (for example, collecting strings and using them for self-stimulation,
memorizing numbers, or repeating certain words or phrases.)

• Attachments to objects, differ from usual transitional objects in that the objects chosen tend to be hard rather
than soft, and, often, it is the class of object, rather than the particular object, that is important, for example, the
child may insist on carrying a certain kind of magazine around with him or her.

• Stereotyped movements may include toe walking, finger flicking, body rocking, and other mannerisms; these
are engaged in as a source of pleasure or self-soothing. The child may be preoccupied with spinning objects, for
example, he or she may spend long periods watching a ceiling fan rotate. This group of behaviors tends to be
one of the last to develop and may be minimal until the child is around 3 years of age.

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AUTISM: SEEING THE WORLD FROM
DIFFERENT ANGLE
• On psychological testing significant deficits in abstract reasoning, verbal concept
formation, and integration skills and on tasks requiring a degree of social
understanding.

• Relative strengths are usually observed in tasks involving rote learning and memory
skills.

• Visual–spatial problem solving is often a strength, particularly if the task can be

completed in small pieces, that is, without having to infer the context of the task.

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SPLINTER SKILLS/SAVANT SKILLS
• One of the most fascinating cognitive phenomenon in autism is the presence of so-called islets of special abilities
or splinter skills.

• Great facility in decoding letters and numbers, at times precociously (hyperlexia), although comprehension of what
is read is much impaired.

• Perhaps as many as 10 percent of individuals with autism exhibit a form of “savant” skills, that is, high, sometimes
prodigious performance on a specific skill in the presence of mild or moderate mental retardation.

• This fascinating phenomenon usually relates to a narrow range of capacities—memorizing lists or trivial
information, calendar calculation, visual–spatial skills such as drawing, musical skills involving a perfect pitch or
playing a piece of music after hearing it only once.

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STEPHEN WILTSHIRE

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COURSE AND PROGNOSIS

• Autism is lifelong disability with most individuals needing significant family and community support.

• Earlier intervention may improve long-term outcome for many individuals, with perhaps 15 to 20
percent able to achieve independence and self-sufficiency in adulthood and perhaps another 20 to 30
percent of individuals able to function with occasional support.

• With age, most individuals show improvement in social relatedness, communication, and self-help skills

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COMORBIDITIES

• During adoloscence some autistic children exhibit behavioral deterioration ,decline in language and
social skill that may be associated with onset of seizure disorder which develop in 10-25 % of autistic
population by young adulthood, specially in lower functioning individual.

• Higher functioning individual may develop depressive or anxiety symptom because of insight in to
their condition.

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 TREATMENT
• Goal of treatment- reducing disruptive Educational
behavior and promote learning in approach
areas or language acquisition,
communication, and self help skills.
• Make profile of strengths and
weaknesses. Psychosocial
• Treatment goals should be updated as
Pharmacology
approach
per child profile and progress rate.
• Include-

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 EDUCATIONAL APPROACH

Requirements-
• Classroom setting with a low student to teacher ratio is usually essential.
• For the more impaired children, a typical hierarchy of priorities should include the ability to
(1) tolerate individual adult guidance in performing tasks, (2) consistently follow a daily
routine, (3) develop communication intent and communication means, and (4) move from
associative to conceptual learning
• Learning should take place in an environment that minimizes distractions .
• The use of highly predictable and consistent routines is necessary to eventually promote the
child's own internal sense of order, scheduling, and organization of experiences, thus
promoting more systematic learning.

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 EDUCATIONAL APPROACH

• Children with autism must be helped to generalize skills, for example, using new words acquired at home as well as in
schools.

• The focus is on the use of words for the purpose of meaningful communication.

• Children with autism may acquire a considerable vocabulary that is dissociated from the act of communication.
Therefore, language acquisition should go hand-in-hand with the promotion of the child's intent to communicate with
others.

• Children who do not vocalize should be engaged in programs focused on alternative forms of communication, including
signs, communication boards.

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EDUCATIONAL APPROACH

• For older or higher-functioning children, the core of the educational program should be an intensive
focus on social and communication skills training. Positive actions in frequently troublesome situations
may have to be rehearsed.

• The setting for the social and communication skills therapy may have to alternate between small group
instruction (in which appropriate behaviors can be practiced and supportive feedback can be gained)
and naturalistic settings (in which the newly acquired skill can be put to practice or additional
problematic behaviors can be identified for practice in the small group)

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SPECIFIC PSYCHOSOCIAL APPROACHES

TEACC LOVAA
H S

PEP-R A-B-A

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TEACCH
TREATMENT & EDUCATION OF AUTISTIC & RELATED
COMMUNICATION HANDICAPPED CHILDREN
• TEACCH originated in 1970’s
• Includes a strong parent participation component
• Includes and recognizes the need for lifelong supports
• Approach focuses mainly on autism rather than behavior
• Provides clearly organized, structured, modified environments and activities
• Emphasis is on visual learning utilizing functional context
• Curriculum is based on individual assessment

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TEACCH

• Advantages
• Individualized
• Dynamic
• Research reports gains in:
• Overall function and development
• Adaptive skills
• Functional skills
• Generalization of skills across environments

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TEACCH

• Disadvantages
• Prevailing belief that TEACCH “gives in” to autism
• Is viewed to segregate children rather than include them
• Does not place enough emphasis on communication and social
development
• Independent work centers inherent in the design may serve to isolate

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LOVAAS

• Behavior therapy approach (Lovaas)

• Uses modeling and operant conditioning to reinforce (DRO/ DRI/DRL)
language and prosocial behaviors

• Parent education training increases treatment generalization beyond

hospital settings

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LOVAAS

• Advantages
• Relies exclusively on 1:1 instruction
• Utilizes high levels of repetition of learned responses until internalized
• Proves to be effective in getting verbalizations from some children
• Keeps child engaged
• Serves as a good boost for getting kids started on skills

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LOVAAS

• Disadvantages
• Allows no differentiation for subtypes in curriculum. Creates
dependency on one-on-one
• Is over stressful to child/family
• Interprets all behaviors as willful rather than neurological
• Ignores sensory issues and processing difficulties
• Is poorly defined for closure

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PEP-R

• Developmental approach to assessment of Autistic children used to

design an Individualized Educational Plan
• Flexibility in administering the test
• Covers a variety of key developmental areas and can help give a
better picture
• The PEP-R is the first part of a four vol. set
• Developed in co ordination with TEACCH

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APPLIED BEHAVIOR ANALYSIS
What is ABA ?
ABA is based on the principles of

Operant Conditioning Theory:

“Human Behavior is affected by events
that precede it (antecedents) and events that
follow it (consequences)”
Change these events…change Behavior!

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A-B-C APPROACH

•Behavior controlled through changing antecedents

•Enriching the environment
•Limiting the environment
•Simplifying the environment
•Structuring the environment
•Address the child’s sensory needs

•Behavior controlled by changing consequences

•Operant conditioning
•Differential reinforcement
•Changes to the reinforcement schedule (Extinction, time out, response cost, and/or
overcorrection)
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 SKILL
Behavior Management REPERTOIRE
INSTRUCTION

Child Tantrums to get what he wants… Teach him to ask for the object

Child screams to escape a task… Teach him to ask for a break

Child hits to get your attention… Teach him to call your name

Child self stimulates… Teach him something more appropriate to do

If you couldn’t communicate, you would tantrum too!

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WHAT BEHAVIOR DO WE WANT TO CHANGE?

• Excesses
Deficits
•• Self Stimulatory Behavior
Language
•• Maladaptive
Play Behavior
• Tantrums
• Social Skills
• Aggression
• Executive Functions
• Noncompliance

Skill Repertoire Instruction Behavior Management

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ISSUES IN PSYCHOSOCIAL MANAGEMENT

• Will be need-based for the individual child in view of the varied presentation
• Prioritize based on
• IQ level
• Severity of associated problem behaviors: rituals, repetitive behaviors, hypersensitivity
• Adaptive skill level

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PSYCHOPHARMACHOLOGY

• Benefit with regards to specific symptoms such as self injury, aggression,

stereotyped movements, and over activity.

• Major tranquillizers have been the most extensively studied agents in autism.
At relatively low doses, they may decrease stereotyped behaviors .

• Risperidone has now been approved for use in autism.(improve irritability

and repetitive behavior)

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PSYCHOPHARMACHOLOGY

• Clonidine-reduces high level of arousal in autism by reducing noradrenergic

activity.

• Major effect of naltrexone appear to be mild decrease in activity level.

• Methylphenidate found efficacious at doses of 0.25-0.5mg/kg for youth with

autism spectrum disorder and ADHD symptoms.

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RETT’S SYNDROME

• It is a progressive condition has onset after a period of normal development

• Prevalence- 6-7 cases per 100,000 girls
• Etiology-unknown,however progressive deteriorating cause point towards
metabolic cause.
• At 6m-2 yr of age child develop progressive encephalopathy associated with
loss of purposeful hand movements replaced by stereotypic motions hand
wringing, loss of previously acquired speech , psychomotor retardation and
ataxia .

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 RETT’S SYNDROME

• Head circumference decelerate.

• All language skills and social skills lost.

• Associated feature include seizure in 75% of affected children , breath-holding spells,

scoliosis.

• After onset child may live over a decade ,may become wheelchair bound because of
rigidity , wasting with language and social skills pleatued at developmental level of 1 yr.
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 RETT’S SYNDROME
• Differential diagnosis with autism spectrum disorder

• In rett’s syndrome onset occur after a period of normal development

 Stereotypic hand movements, typically at midline, are one of the most

prominent symptoms.

 Hand patting, waving, involuntary movements, such as alternate opening and

closing of the fingers, twisting of the wrists and arms, nonspecific circulating
hand-mouth movements appear to be warning signals.

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RETT’S SYNDROME
• Poor coordination ,ataxia and apraxia is predictably the part of rett’s syndrome.

• Verbal ability are usually lost completely in rett’s ,while variable loss is present in other
autism spectrum disorder.

• Respiratory irregularities are characteristic of rett’s syndrome.

• Seizure frequently develop in rett’s(75%) while in autism(10-25%) more likely to appear in

adolescence.

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CHILDHOOD DISINTEGRATIVE DISORDER

• Marked regression in several areas of functioning after at least two years of

apparently normal development.
• Also called Heller syndrome or disintegrative psychosis.
• Prevelance-1 in 100,000 boys
• Onset between 3 and 4 years , may be insidious or relatively abrupt with
abilities diminishing in days or weeks.
• Core feature of disorder loss of communication skills, reciprocal interaction
and onset stereotyped movement and compulsive behavior.

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CHILDHOOD DISINTEGRATIVE DISORDER

• In childhood disintegrative d/o child language usually has progressed to

sentence formation which is different from premorbid history of even high
functioning autistic child whose language doesn’t exceed single word or
phrases as well as language affected more commonly than social skill.
• Deterioration occur much earlier in rett’s with presence of characteristic hand
stereotypes.

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ASPERGER SYNDROME

• Impairment and oddity of social interaction and restricted behavior.

• No delay in language and cognitive development.
• Diagnosis require two of the following-
Markedly abnormal non-communicative gestures,
Failure to develop peer relationship in expected level.
Restricted interest and pattern of behavior
• Differential include social anxiety d/o ,OCD, schizoid personality d/o.
• Asperger Syndrome is autism without mental retardation, thus AS relates to higher functioning autism.

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 ICD-10
0 Classifications of Mental and Behavioural Disorder: Clinical Descriptions and Disgnostic Guidelines. Geneva. World Health Organisation. 1992.
ICD-10 Classifications of Mental and Behavioural Disorder: Clinical Descriptions and Disgnostic Guidelines. Geneva. World Health Organisation. 1992.

REFERENCES
• Sadock B, Sadock V, Ruiz P. Kaplan & Saddocks comprehensive textbook of psychiatry, volume 1 and 2.
10th ed. Philadelphia: Lippincott Williams and Wilkins; 2009.
• Gelder MG. Oxford textbook of psychiatry. 4th ed. Oxford: Oxford University Press; 1998.
• Thapar A. Rutters child and adolescent psychiatry. 6th ed. Wiley-Blackwell; 2015.
• The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic
guidelines. Geneva: World Health Organization; 1992.
• Diagnostic and statistical manual of mental disorders: DSM-5. Washington (D.C.): American Psychiatric
Publishing; 2013.

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