Sohini (M.

Sc)

AUTISM SPECTRUM DISORDERS

Developmental disorders are disorders that occur at some stage in a child's
development, often retarding the development. These may include psychological
or physical disorders. They can be grouped into specific developmental disorder
and pervasive developmental disorders. It is sometimes equated with
developmental disability.

The term “developmental arrest” means that some aspect of normal

growth and development has halted. Such an arrest can affect any aspect of
development--physical, intellectual or emotional. Global delay is diagnosed when
all areas of development are impaired. In children, developmental arrest is failure
to gain accepted milestones--including social and psychological milestones--on
time

Definition of Developmental Disabilities by the Federal Developmental

Disabilities Assistance and Bill or Rights Act of 2000 (Public Law 106-402):

 A Developmental Disability is a severe, chronic disability that is attributable

to a Mental Or Physical Impairment Or Combination Of Mental and Physical
Impairments; is manifested before the Person Attains Age 22; is likely to
continue indefinitely; Results In The Substantial Functional limitations in 3
or more of the following areas of major life activity; self-care, receptive and
expressive language learning, mobility self-direction capacity for
independent living.

 The term Pervasive Developmental Disorders (PDDS) refers to a group of

biologically based neuro-developmental conditions that involve Delayed or
Impaired Communication and Social Skills, Behaviors, And Cognitive Skills
(Learning), and Play.

 Since Autism is the best-known of the PDDs, the disorders also are known
as Autism Spectrum Disorders (ASDS).
POSSIBLE INDICATORS OF AUTISM SPECTRUM DISORDER:

 Does not babble, point, or make meaningful gestures by 1 year of age

 Does not speak one word by 16 months
 Does not combine two words by 2 years
 Does not respond to name
 Loses language or social skills
 Poor eye contact
 Doesn’t seem to know how to play with toys
 Excessively lines up toys or other objects
 Is attached to one particular toy or object
 Doesn’t smile
 At times seems to be hearing impaired.

The two main areas that show marked impairment in Autistic individuals are:
Social Interaction & Language and communication.

ACCORDING TO DSM IV (Revised TR):

 Pervasive developmental disorders (PDDs) are characterized by Slow,

Limited and Atypical Developmental Processes with onset in the early years
of life.

 The condition leads on to disabilities in virtually all the psychological and

behavioral sectors with prominent disturbances in social, communicative
and cognitive spheres.
  The current concept of Pervasive Developmental Disorder (PDD) has been
coined since the late 60’s, and mainly derived from M. Rutter, I. Kolvin and
D. Cohen works’.

 A publication title change from “Journal Of Autism And Childhood

Schizophrenia To Journal Of Autism And Development Disorders” at the
end of the 70’s, as well as the publication of the DSM-III might be
considered milestones of this concept.

UNDERSTANDING AUTISM SPECTRUM:

 The autism spectrum disorders can often be reliably detected by the age of
3 years, and in some cases as early as 18 months.2 Studies suggest that
many children eventually may be accurately identified by the age of 1 year
or even younger.

 Parents are usually the first to notice unusual behaviors in their child. In
some cases, the baby seemed “different” from birth, unresponsive to
people or focusing intently on one item for long periods of time.

 The first signs of an ASD can also appear in children who seem to have been
developing normally.

 When an engaging, babbling toddler suddenly becomes silent, withdrawn,

self-abusive, or indifferent to social overtures, something is wrong.

 Research has shown that parents are usually correct about noticing
developmental problems, although they may not realize the specific nature
or degree of the problem.
 The pervasive developmental disorders, or autism spectrum disorders,
range from a severe form, called autistic disorder, to a milder form,
Asperger's syndrome

 Autism is a lifelong developmental disability that affects the way a person

communicates and relates to people around them. Children and adults with
autism have difficulties with everyday social interaction. Their ability to
develop friendships is generally limited as is their capacity to understand
other people's emotional expression.
HISTORY OF AUTISM:

Term autism originally used by Bleuler (1911)

 To describe withdrawal from social relations into a rich fantasy life

seen in individuals with schizophrenia

 Derived from the Greek autos (self) and ismos (condition)

Leo Kanner – 1943(Observed 11 children)

 Inattention to outside world: “extreme autistic aloneness”

 Similar patterns of behavior in 3 main areas:

Abnormal language development and use: Social skills deficits and excesses:
Insistence on sameness.

Psychiatrist Hans Asperger (1944) - describes “little professor” syndrome

Eisenberg and Kanner (1956)

 Added autism onset prior to age 2

 Further refined definition of autism

Creak (1961):

 Developed 9 main characteristics

 Believed they described childhood schizophrenia

 Incorporated into many descriptions of autism and commonly used

autism assessment instruments today.
Rutter (1968)

Said the term autism led to confusion! Argued autism was different than
schizophrenia, Higher M:F ratio; Absence of delusions & hallucinations; Stable
course (not relapse/marked improvement);Further defined characteristics (for
science, research).

National Society for Autistic Children

One of the 1st & most influential parent groups for children with autism in U.S.
Wrote separate criteria (for public awareness, funding)

 Added disturbances in response to sensory stimuli & atypical development

 Did not include insistence on sameness.

EPIDEMOLOGY:

 Autistic disorder: 2-5/10,000;

 male/female ratio of : 3:1 TO 4:1

 Language abnormalities : very common

 Level of Intelligence: often severely impaired.

IDEA DEFINITION OF AUTISM:

 A developmental disability significantly affecting verbal and

nonverbal communication and social interaction, generally evident before
age 3 that adversely affects a child's educational performance.
 Other characteristics often associated with autism are engagement in
repetitive activities and stereotyped movements, resistance to
environmental change or change in daily routines, and unusual responses to
sensory experiences.

 The term does not apply if a child's educational performance is adversely

affected primarily because the child has a serious emotional disturbance as
defined below.

 The children born with Autism tend to live in their own world where they
have their own medium of communication, thus to seem to be absolutely
blank and lost to other people.

 Born with an indication of failed cerebral lateralization (according to EEG

studies), or an enlarged striatum in some children is correlated with
frequently repetitive behaviour. In response to socially relevant stimuli,
researchers have found greater amygdala hyper arousal in children having
autism spectrum disorders. Due to these cortical and subcortical
impairments autistic children have poor perseveration and set shifting.

 They are “directive imperative” in nature i.e. they show poor

communication when a particular item or work needs to be directed to. For
example if an autistic child is hungry he/she will take the caregiver and
make him/her stand in front of the desired food.

 They tend to dwell in high and rigid morality. These children are very radical
and often bear an understanding of their environment in extremes.
  Poor abstract intelligence and doesn’t follow proverbs; thus they need to
be given very clear and direct instructions.

 Poor social interaction, thus cannot clearly take part in turn by turn
conversation, often have flat expressions and flat intonation.

 They don’t lose their ego centricism even after that stage in cognitive
development has passed because of an impairment in the frontal lobe
functioning.

 They speak in a pronoun reversal manner.

 Often doesn’t respond to name calling.

Now all of these are clinical features that vary from individual to individual.
Every individual might have their own point of emotional distress. Thus the
criterion that has to be followed in order to diagnose Autism Spectrum
Disorder is stated below:

DIAGNOSTIC CRITERTIAS OF AUTISM ACCORDING TO DSM V:

A. Persistent deficits in social communication and social interaction across

multiple contexts, as manifested by the following, currently or by history.

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 example, 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.

B. Restricted, repetitive patterns of behavior, interests, or activities, as

manifested by at least two of the following, currently or by history.

 Stereotyped or repetitive motor movements, use of objects, or speech (e.g.,

simple motor stereotypies, lining up toys or flipping objects, echolalia,
idiosyncratic phrases).

 Insistence on sameness, inflexible adherence to routines, or ritualized

patterns or verbal nonverbal behavior (e.g., extreme distress at small
changes, difficulties with transitions, rigid thinking patterns, greeting rituals,
need to take same route or eat food every day).

 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 interest).
 Hyper- or hyporeactivity to sensory input or unusual interests 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.

 C. Symptoms must be present in the early developmental period (but

may not become fully manifest until social demands exceed limited
capacities or may be masked by learned strategies in later life).

 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 developmental disorder) or global developmental delay.
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.

 Note: Individuals with a well-established DSM-IV diagnosis of autistic

disorder, Asperger’s disorder, or pervasive developmental disorder not
otherwise specified should be given the diagnosis of autism spectrum
disorder. Individuals who have marked deficits in social communication, but
whose symptoms do not otherwise meet criteria for autism spectrum
 disorder, should be evaluated for social (pragmatic) communication
disorder.

F. Specify if:

 With or without accompanying intellectual impairment

 With or without accompanying language impairment
 (Coding note: Use additional code to identify the associated medical or
genetic condition.)
 Associated with another neurodevelopmental, mental, or behavioral
disorder
 (Coding note: Useadditional code[s] to identify the
associated neurodevelopmental, mental, or behavioral disorder[s].)
 With catatonia
 Associated with a known medical or genetic condition or environmental
factor.

DIFFERENTIAL DIAGNOSIS:

 Social (Pragmatic) Communication Disorder: Difficulty in conforming typical

storytelling, understanding the rules of social communication, lack of
conventional greetings, taking turns in communication and responding
verbal and non verbal cues. Delay in learning language; Difference with
autism: DOES NOT include restricted and repetitive behaviour and interests.

 Childhood Onset Schizophrenia: Rare in children before age 12 and

nonexistent in children below age 5. Characterized by hallucinations and
delusions, marked by lower incidence of seizures and intellectual disability
plus poor social skills. Difference with Autism: Intelligence is within normal
range. In autism adaptive functioning are already impaired since birth while
in childhood schizophrenia functioning deteriorates gradually.
 Intellectual Disability with Behavioral Symptoms: They display symptoms
behaviorally which overlap with the symptoms of autism spectrum
disorders. Difference with Autism: ID children display global impairment in
both verbal and non verbal areas whereas impairment in autistic children is
restricted somewhat to social interactions compared to other areas of
performance.

 Language Disorder: Difference with Autism- Associated deafness is very

common in autism but not in language disorder. Non verbal communication
is impaired in autism while in language disorder it is actively used.
Articulation issues are infrequent in autism but it is quite frequent in LD.
The major area of impairment in autism is social interaction; this is intact in
children with LD.

 Congenital Deafness or Hearing Impairment: Babbling in autistic children

may be infrequent which is not the same for deaf children. Children with
hearing impairment mostly respond to loud sound which is quite the
contrary for autistic children. Mostly importantly deaf children resort to non
verbal social communications, an impaired area for autistic children.

 Psychosocial Deprivation: Severe neglect, lack of parental care can lead

children to appear apathetic, withdrawn and alienated. Language and motor
skills may be delayed. Though the symptoms may seem to be overlapping
with autism spectrum disorders, these children if placed in an enriched
situation might improve; which is not applicable for autistic children.
PERVASIVE DEVELOPMENTAL DISORDERS (according to ICD 10)

CHILDHOOD AUTISM:

 A. Presence of abnormal or impaired development before the age of three

years, in at least one out of the following areas:

(1) Receptive or expressive language as used in social communication;

(2)The development of selective social attachments or of reciprocal social interaction;

(3) Functional or symbolic play.

 B. Qualitative abnormalities in reciprocal social interaction, manifest in at

least one of the following areas:

(4)Failure adequately to use eye-to-eye gaze, facial expression, body posture and
gesture to regulate social interaction;

(5)Failure to develop (in a manner appropriate to mental age, and despite ample
opportunities) peer relationships that involve a mutual sharing of interests,
activities and emotions;

B.(3) A lack of socio-emotional reciprocity as shown by an impaired or deviant

response to other people's emotions; or lack of modulation of behaviour
according to social context, or a weak integration of social, emotional and
communicative behaviours.

 C. Qualitative abnormalities in communication, manifest in at least two of

the following areas:

(1) A delay in, or total lack of development of spoken language that is not
accompanied by an attempt to compensate through the use of gesture or
mime as alternative modes of communication (often preceded by a lack of
communicative babbling.
 (2) Relative failure to initiate or sustain conversational interchange (at
whatever level of language skills are present) in which there is reciprocal to
and from responsiveness to the communications of the other person;

(3)Stereotyped and repetitive use of language or idiosyncratic use of words or

phrases;

(4) Abnormalities in pitch, stress, rate, rhythm and intonation of speech;

D. Restricted, repetitive, and stereotyped patterns of behaviour, interests and

activities, manifest in at least two of the following areas:

(1) An encompassing preoccupation with one or more stereotyped and restricted

patterns of interest that are abnormal in content or focus; or one or more
interests that are abnormal in their intensity and circumscribed nature although
not abnormal in their content or focus.

D. (2) Apparently compulsive adherence to specific, non-functional, routines or

rituals;

(3)Stereotyped and repetitive motor mannerisms that involve either hand or

finger flapping or twisting, or complex whole body movements;

(4)Preoccupations with part-objects or non-functional elements of play

materials (such as their odor, the feel of their surface, or the noise or vibration
that they generate);

(5) Distress over changes in small, non-functional, details of the environment.

 E. The clinical picture is not attributable to the other varieties of pervasive

developmental disorder; specific developmental disorder of receptive
language (F80.2) with secondary socio-emotional problems; reactive
attachment disorder (F94.1) or disinhibited attachment disorder (F94.2);
mental retardation (F70-F72) with some associated emotional or
behavioural disorder; schizophrenia (F20) of unusually early onset; and
Rett's syndrome (F84.2).
ATYPICAL AUTISM:

 A. Presence of abnormal or impaired development at or after age three

years (criteria as for autism except for age of manifestation).

 B. Qualitative abnormalities in reciprocal social interaction or in

communication, or restricted, repetitive and stereotyped patterns of
behaviour, interests and activities (criteria as for autism except that it is not
necessary to meet the criteria in terms of number of areas of abnormality).

 C. The disorder does not meet the diagnostic criteria for autism (F84.0).
Autism may be atypical in either age of onset (F84.11) or phenomenology
(84.12), these two types being differentiated with a fifth character for
research purposes. Syndromes that are atypical in both respects should be
coded F84.12.

Atypicality in age of onset

 A. Does not meet criterion A for autism. That is, abnormal or impaired
development is evident only at or after age three years.

 B. Meets criteria B, C, D and E for autism (F84.0).

Atypicality in symptomatology

 A. Meets criterion A for autism (i.e. presence of abnormal or

impaired development before the age of three years).

 B. Qualitative abnormalities in reciprocal social interactions or in

communication, or restricted, repetitive and stereotyped patterns of
behaviour, interests and activities (criteria as for autism except that it is not
necessary to meet the criteria in terms of number of areas of abnormality).

 C. Meets criterion E for autism.

 D. Does not meet the full criteria B, C and D for autism (F84.0).
 Atypicality in both age of onset and symptomatology.

 A. Does not meet criterion A for autism. That is abnormal or impaired

development is evident only at or after the age of three years.

 B. Qualitative abnormalities in reciprocal social interactions or in

communication, or restricted, repetitive and stereotyped patterns of
behaviour, interests and activities (criteria as for autism except that it is not
necessary to meet the criteria in terms of number of areas of abnormality).

 C. Meets criterion E for autism.

 D. Does not meet the full criteria B, C and D for autism.

RETT’S SYNDROME:

 A progressive neurological disorder; Children exhibit LEARNING

DISABILITIES, poor muscle tone, autistic-like behavior, useless hand
movements and hand wringing, lessened ability to express feelings,
avoidance of eye contact, a lag in brain and head growth, walking
abnormalities, and seizures. Loss of muscle tone is usually the first
symptom

HISTORY:

 1966 - Dr. Andreas Rett of Austria observed two females with unusual hand-
wringing motions

 1983 - Dr. Bengt Hagberg of Sweden published comprehensive review of

Rett’s Disorder in an English neurology journal

 1984 - First International Rett Syndrome Conference in Vienna

 1985 - Dr. Hugo Moser organized first North American International Rett
Syndrome Conference in Baltimore, MD; International Rett Syndrome
Association established.
 EPIDEMOLOGY:

 Almost exclusively girls

 1 in every 10,000 – 15,000 live female births.

 With symptoms usually appearing in early childhood, between the ages of

six months and 18 months.

 Experts believe that while boys can get Rett’s syndrome (RS), in boys
the condition is fatal

Found in all races and ethnicities.

SYMPTOMS:

STAGE 1: EARLY ONSET

 6-18 months old

 Vague symptoms,
overlooked

 Less eye contact

 Reduced interest in toys

 Motor skill delays

Last a few months

STAGE 2: RAPID DESTRUCTIVE

 1 and 4 years old

 Rapid or gradual
onset

 Loss of purposeful
hand movements

 Loss of spoken
language

 Distinctive hand movements (wringing, washing, clapping, tapping,

moving hand to mouth)
  Persist while awake only

 Loss of social interaction

 Loss of communication skills

 Irritability

 Gait patterns, unsteadiness, initiation of motor skills difficult

 Slowing of head growth

Lasts for weeks or months

STAGE 3: PLATEAU OR PSEUDO STATIONARY

 2-10 years old

 Apraxia

 Motor problems

 Seizures

 Improvement in behavior

 More interest in surroundings

 Alertness

 Attention span

 Communication skills

 Rest of life…

STAGE 4: LATE MOTOR DETERIORATION

 Reduced mobility

 Muscle weakness

 Rigidity
  Spasticity

 Dystonia (increased muscle tone, abnormal posturing)

 Scoliosis

 Repetitive hand movements decrease

 Eye gaze improves

 May last years or decades

OTHER CHILDHOOD DISGENERATIVE DISORDER

Development is apparently normal up to the age of 2 years. On the onset of the

disorder some previously acquired areas of skill gets effected permanently, not
just in certain situations. Also abnormality in certain areas of social functioning is
manifested.
OVERACTIVE DISORDER ASSOCIATED WITH MENTAL RETARDATION AND
STEREOTYPED MOVEMENTS

 Severe hyper motor activity is manifested by problems in activity and

attention. Continuous restlessness marked by running, jumping etc;
Difficulty in remaining seated, grossly excessive activities with rapid
changes. Their motor activities are repetitive and restricted movements
such as hand flapping. I.Q is less than 5O but their social interactions are
not impaired like autistic children. Such children don't tend to benefit from
stimulant drugs (unlike those with an IQ in the normal range) and show
severe dysphoric reaction. In adolescence over activity tends to be replaced
by under activity (a pattern that is not usual in hyperkinetic children with
normal intelligence).Common for the syndrome to be associated with a
variety of developmental delays, either specific or global.

CHILDHOOD DISGENERATIVE DISORDER

Childhood disintegrative disorder (CDD) is a rare condition that affects children

most often around ages 3-4, but may range from ages 2-10. After at least 2 years
of normal postnatal development, significant losses. Significant losses manifest in
the following domains:

 Expressive or receptive language

 Social or adaptive behavior

 Bladder or bowel control

 Play

 Motor skills

 Loss of skills as vocabulary is more dramatic in CDD.

The onset may be gradual, over several months or relatively abruptly, with abilities
diminishing in days or weeks. In some cases , a child displays restlessness,
increased activity level and anxiety before the loss of function.
HISTORY: Originally reported as dementia infantilis by Theodore Heller in 1908.
Other known names are: Heller syndrome, Progressive disintegrative psychosis,
Pervasive disintegrative disorder

 Part of the umbrella group of Pervasive Developmental Disorders (PDD)

Asperger’s Syndrome, Autistic Disorder, Childhood Disintegrative Disorder,

Rett’s Syndrome, Pervasive Developmental Disorder Not Otherwise
Specified10

 EPIDEMOLOGY: Similar to autism but is often distinguished by its late age of

onset and the severity of regression

 Since CDD is rare, there is limited information available. Autism, which

occurs more frequently, should be used as a guide. 1.7 per 100,000 children
(avg. of four studies)

 Regression can occur abruptly from days to weeks or gradually over an

extended period of time

 It has a strong male preponderance.

 Symptoms may appear by age 2, but the average age of onset is between 3
and 4 years. Until this time, the child has age-appropriate skills in
communication and social relationships.

 The long period of normal development before regression helps

differentiate CDD from Rett’s syndrome.

COURSE AMD PROGNOSIS:

 Reaches a plateau in most cases.

 Progressive deteriorating is rare.
 Improvement is possible to the extent of regaining sentence formation
 Most patients are left with moderate mental retardation.
ASPERGER’S SYNDROME

Individuals with Asperger’s Disorder may display some or all of the following:

 Difficulty forming appropriate relationship with peers

 Lack of spontaneous sharing of interests and achievements

 Difficulty with social reciprocity

 May have uneven motor skill development

 Good language skills

 Normal or near normal IQ

HISTORY: Identified in 1944 by Hans Asperger. (Austria) and brought to the

attention of the English-speaking world in 1980 by Dr. Lorna Wing. IT was not
added to the Diagnostic and Statistics Manual of the American Psychiatric
Association until 1994.This disorder is also known as “Autism’s Shadow”.

An influential review and series of case reports by Lorna Wing (1981)

increased interest in the condition and since then both the usage of the
term in clinical practice and number of case reports and research studies
have been steadily increasing. The commonly described clinical features of
the syndrome include: paucity of empathy; naive, inappropriate, one-sided
social interaction, little ability to form friendships and consequent social
isolation; pedantic and monotonic speech;

Lorna Wing (1981)

 poor nonverbal communication;

 intense absorption in circumscribed topics such as the weather, facts about

TV stations, railway tables or maps, which are learned in rote fashion and
reflect poor understanding, conveying the impression of eccentricity; and

 Clumsy and ill-coordinated movements and odd posture.

  Prevalence: 48 out every 10,000 children: More Frequent in male than
female: (5:1)

The difference between Asperger’s syndrome and Autism is in the domain

language and communication more specifically speech. Since the debilitation
created by Asperger’s is not as severe as Autism, thus the domain of intelligence is
not as severely affected as it is in Autism.

COURSE AND PROGNOSIS:

 Lifelong and continuous.

 Normal IQ.
 High Level social skills are achievable but in most cases the social
awkwardness continues to prevail through adulthood.

PERVASIVE DEVEOPMENTAL DISORDERS NOT OTHERWISE SPECIFIED.

Whereas DSM IV TR defines pervasive disorder not otherwise specified as a

condition with severe, pervasive impairment in communication skills or the
presence of restricted and repetitive activities and associated impairment in social
interactions. DSM V conceives of this as encompassed within a diagnosis of autism
spectrum disorder. The treatment approach is identical to that of other autism
spectrum disorders.