This document provides information on autism spectrum disorders including: - A brief history noting early descriptions by Kanner and Maudsley. - Epidemiology showing prevalence of 2 per 1000, higher rates in males, and associations with intellectual disability. - Etiology discussing theories including genetic, neurological, immunological and perinatal factors. - Clinical features such as impairments in social skills, communication deficits, stereotyped behaviors and sensory issues. - Diagnostic classifications including autism, Asperger's syndrome, and other conditions under the pervasive developmental disorder umbrella.

1. Mr.Sukesh Kuttan

2. CLINICAL PRESENTATION
ON
AUTISTIC SPECTRUM
DISORDERS
Presented by
PREMNATH R

4. HISTORY
• Henry Maudsley in 1867

5. Leo Kanner in 1943 coined
the term infantile autism
in his classic paper
“Autistic Disturbances of
Affective Contact”

6. Observations by Leo Kanner
• Extreme autistic aloneness
• Failure to assume an anticipatory posture
• Delayed or deviant language development with
echolalia and pronominal reversal (using you for I)
• Monotonous repetitions of noises or verbal utterances
• Excellent rote memory
• Limited range of spontaneous activities, stereotypies,
and mannerisms

7. • Anxiously obsessive desire for the maintenance of
sameness and dread of change
• Poor eye contact
• Abnormal relationships with persons
• Preference for pictures and inanimate objects
• Kanner suspected that the syndrome was more
frequent than it seemed and suggested that some
children with this disorder had been misclassified as
mentally retarded or schizophrenic.

8. • Before 1980, children with pervasive
developmental disorders were generally
diagnosed with childhood schizophrenia.

9. EPIDEMIOLOGY
• Prevalence rates in the range of two per 1000 children.
• Seen throughout all socioeconomic levels.
• Four times more prevalent in males than females.
• Rett disorder exclusively seen in females.
• About half of children with autistic disorder are mentally
retarded except in childhood disintegrative disorder, in which
all affected children are mentally retarded.
• ‘Savant’ talents can be seen. (Visuospatial skills and rote
memory skills, phenomenal abilities in particular areas such
as in memory, calendar calculation or artistic endeavors)

10. Autism - Prevalence studies in India
• No major prevalence studies
• Approximately 1 in 500 people
NIMHANS study
– 1993- among 160 in-patients, ASD was found in 6 cases
(3.8%) (Srinath et al)
– 1997- among 143 in-patients, ASD was found in 6 cases
(4.2%) (Bharath et al)
– Unpublished data, 2002- among 309 cases, ASD in 94
(30.4%)(MR cases weren’t included)

11. ETIOLOGY
• Psychosocial theories
• Biological theories
• Genetic factors
• Other medical conditions and autistic
disorder
• Perinatal factors
• Other causes
• Neuroanatomical models
• Neurochemistry
• Immune theories

12. PSYCHOSOCIAL THEORIES
• Kanner's original speculation that emotional factors might
be involved in the pathogenesis of autism
• Caused by a “refrigerator” mother who was not responsive
to the child's emotional needs.(Bruno bettelheim)
• Recommends intensive psychotherapy for mother and
child or sometimes removal of the child from the family, in
an attempt to remediate the basic deficit.
• A generation of parents was traumatized by the experience
of being blamed for their child's condition.

13. BIOLOGICAL THEORIES
• High rate of mental retardation and seizure
disorders and the recognition that various medical
or genetic conditions are sometimes associated
with the syndrome.
• Autistic disorder is a behavioral syndrome caused
by one or more factors acting on the central
nervous system (CNS).

14. GENETIC FACTORS
• The condition is relatively rare and patients did not seem to
reproduce.
• Studies of twins indicated high concordance, especially for
monozygotic twin pairs, with reduced concordance for
fraternal, or dizygotic, same-sex twin pairs.
• Evidence also suggested that the high rates of cognitive
difficulties in the unaffected monozygotic twin were
associated with perinatal complications in the autistic co-
twin, suggesting a perinatal insult related to autism in the
face of some inherited liability for the disorder.

15. • Family studies have shown a rate of recurrence in
families of approximately 2 to 3 percent of autism
among siblings. However, this is 50 to 100 times the rate
of autism in the general population.
• Parents who are given the early diagnosis and
presentation of autism might consciously or
unconsciously decide against having additional children.
(“stoppage”)

16. • Even when not affected, siblings are at increased risk
for various developmental difficulties, including
problems in language and cognitive development.
• Recent work on the family members of autistic
persons finds higher rates of mood and anxiety
problems and increased frequency of social
difficulties.

17. OTHER MEDICAL CONDITIONS AND
AUTISTIC DISORDER
• Fragile X syndrome and tuberous sclerosis.
• Physical signs of the condition include characteristic faces,
enlarged testicles, associated mental retardation, and some
autistic features. Behavioral difficulties include attention
problems, impulsivity, and anxiety. Initially there was great
enthusiasm for the notion that a fragile X chromosome might
account for most cases of autism in males. This condition
remains the second most important known chromosomal
cause of mental retardation, after Down syndrome.

19. • Tuberous sclerosis is characterized by abnormal tissue
growth, or benign tumors (hamartomas), that affect
various organ systems.
• This autosomal dominant disorder is associated with a
range of phenotypes including mental retardation and
seizure disorder.
• Studies find tuberous sclerosis in 0.4 to 2.8 percent of
autistic individuals, a significantly higher rate than that
in the general population. Rates of autistic disorder in
individuals with this disorder are high.

21. PERINATAL FACTORS
• Increased rates of prenatal, perinatal, and neonatal
complications in autistic disorder children.
• Much of the difference relates to observations that
something unusual is noted about the child at birth,
which may reflect the operation of both genetic and
perinatal factors.
• The genetic predisposition to autistic disorder may
interact with perinatal factors in producing the
syndrome.

22. OTHER CAUSES
• Associated autistic disorder with a host
of other conditions.
–Autism associated with phenylketonuria,
neurofibromatosis, and congenital
rubella.

23. NEUROANATOMICAL MODELS
• Some autistic individuals have enlarged brains and
heads, whereas others (particularly those more
retarded) have smaller heads.
• Cellular changes in the hippocampus and the amygdala;
increased cell packing has been seen in the amygdala.
• Reduced cerebellar size in the neocerebellar vermal
lobules VI and VII.
• Decreased numbers of purkinje's cells in the cerebellar
vermis and hemispheres.

24. • The severe deficits in language and communication that
characterize autistic disorder suggested the possibility
of left cortical involvement. Since at least some
functions affected in autistic disorder (prosody and
language pragmatics) are more likely to be right-
hemisphere related, a left hemisphere hypothesis
cannot account for all deficits.

25. • Abnormalities in cortical and subcortical region,
neostriatum, sensory processing systems, and the
cerebellum.
• A role for the medial temporal lobe was suggested
by dilatation of the temporal horn in the left lateral
ventricle observed in early studies using
pneumoencephalogram.

27. NEUROCHEMISTRY
• One third of children with autistic disorder have increased
peripheral concentrations of the neurotransmitter serotonin.
• Hyperdopaminergic functioning of the brain might explain the
over activity and stereotyped movements seen in autism.
• Administration of stimulants that increase dopamine
concentration typically worsens behavioral functioning in
autistic disorder.
• Agents that block dopamine receptors are effective in reducing
the stereotyped and hyperactive behaviors of many autistic
children.

28. IMMUNE THEORIES
• Role of immunological factors in autistic
disorder.
• There has been a suggestion that maternal
antibodies directed against the fetus may be
produced in-utero.
• There also have been reports of autism
associated with viral infections.

29. ICD 10 CLASSIFICATION
F84 Pervasive developmental disorders
• F84.0 Childhood autism
• F84.1 Atypical autism
• F84.2 Rett's syndrome
• F84.3 Other childhood disintegrative disorder
• F84.4Overactive 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

30. F84.0 Childhood autism
A pervasive developmental disorder defined by
the presence of abnormal and/or impaired
development that is manifest before the age of 3
years, and by the characteristic type of abnormal
functioning in all three areas of social interaction,
communication, and restricted, repetitive behaviour.
The disorder occurs in boys three to four times more
often than in girls.

31. F84.2 Rett's syndrome
• Identified by Andreas Rett, in 1965
• Rett's disorder is a progressive condition that has its
onset after some months of what appears to be normal
development. Head circumference is normal at birth
and developmental milestones are unremarkable in
early life. Between 5 and 48 months of age, generally
between 6 months and a year, head growth begins to
decelerate.
• prevalence of 6 to 7 cases of Rett's disorder per
100,000 girls.

32. Etiology
• Unknown
• Hyperammonemia has led to postulation that an
enzyme metabolizing ammonia is deficient
• Genetic basis.
• Complete concordance in monozygotic twins.

33. Diagnosis and clinical features
• During the first 5 months after birth, infants have age-appropriate
motor skills, normal head circumference, and normal growth.
Social interactions show the expected reciprocal quality.
• At 6 months to 2 years of age, children may develop loss of
purposeful hand movements, which are replaced by stereotypic
motions, such as hand-wringing; the loss of previously acquired
speech; psychomotor retardation; and ataxia. Other stereotypical
hand movements may occur, such as licking or biting the fingers
and tapping or slapping. The head circumference growth
decelerates and produces microcephaly.

34. • All language skills are lost by 6 months and 1 year.
• Poor muscle coordination and an apraxic gait with an
unsteady and stiff quality develop.
• Irregular respiration, with episodes of hyperventilation,
apnea, and breath holding. The disorganized breathing
occurs in most patients while they are awake; during
sleep, the breathing usually normalizes.
• Scoliosis.
• Spastic to rigid muscle tone.
• Children live for well over a decade after the onset of
the disorder, after 10 years, many patients are
wheelchair-bound, with muscle wasting, rigidity, and
virtually no language ability.

37. Treatment
• Symptomatic.
• Physiotherapy has been beneficial for the
muscular dysfunction.
• Anticonvulsant treatment is usually necessary to
control the seizures.
• Behavior therapy, along with medication.

38. F84.3 other childhood disintegrative
disorder
Childhood disintegrative disorder
Childhood disintegrative disorder is
characterized by marked regression in several areas
of functioning after at least 2 years of apparently
normal development.
• Heller's syndrome and disintegrative psychosis,
Epidemiology
• One tenth as common as autistic disorder
• Prevalence is about 1 in 100,000 boys.
• The ratio of boys to girls is between 4 and 8 boys to
1 girl.

40. Etiology
• Unknown
• Associated with other neurological conditions, like
seizure disorders, tuberous sclerosis, and various
metabolic disorders.
Diagnosis and clinical features
• The onset may be insidious or abrupt, with
abilities diminishing in days or weeks.
• Restlessness, increased activity level, and anxiety
before the loss of function.
• Loss of communication skills, marked regression
of reciprocal interactions, and the onset of
stereotyped movements and compulsive behavior.

41. F84.4 Overactive disorder associated with mental
retardation and stereotyped movements
Diagnostic guidelines
• Diagnosis depends on the combination of
developmentally inappropriate severe overactivity,
motor stereotypies, and moderate to severe mental
retardation; all three must be present for the diagnosis.
If the diagnostic criteria for F84.0, F84.1 or F84.2 are
met, that condition should be diagnosed instead.

43. F84.5 Asperger's syndrome
• Asperger's disorder is characterized by impairment and
oddity of social interaction and restricted interest and
behavior reminiscent of those seen in autistic disorder.
Unlike autistic disorder, in Asperger's disorder no
significant delays occur in language, cognitive
development, or age-appropriate self-help skills
• Asperger's disorder occurs in a wide variety of severities,
including cases in which very subtle social cues are missed,
but overall social interactions are mastered.

44. Etiology
• Unknown
• Presence of genetic, metabolic, infectious, and perinatal contributing
factors.
Diagnosis and clinical features
• At least two of the following indications of qualitative social
impairment:
– markedly abnormal nonverbal communicative gestures,
– failure to develop peer relationships
– lack of social or emotional reciprocity
– impaired ability to express pleasure in other persons' happiness.

46. Courtesy: http://www.asperger-syndrome.me.uk/people.htm#top

47. Treatment
• Supportive treatment
• Shaping interactions so that they better match those of peers.
• The tendency of children and adolescents with asperger's
disorder to rely on rigid rules and routines can become a
source of difficulty for them and be an area that requires
therapeutic intervention.
• Self-sufficiency and problem-solving techniques are often
helpful for these individuals in social situations and in a work
setting.

48. F84.9 pervasive developmental disorder,
unspecified
Pervasive developmental disorder unspecified
• Severe, pervasive impairment in communication skills
or the presence of stereotyped behavior, interests, and
activities with associated impairment in social
interactions.
• Some children who receive the diagnosis exhibit a
markedly restricted repertoire of activities and interest.
• The condition usually shows a better outcome than
autistic disorder.
Treatment
• Mainstreaming in school may be possible.
• Psychotherapy.

49. COMMON CLINICAL FEATURES OF AUTISM
SPECTRUM DISORDERS
• Physical characteristics
• Behavioural characteristics
– Qualitative impairments in social interaction
– Disturbances of communication and language
– Stereotyped behavior
– Instability of mood and affect
– Response to sensory stimuli
– Associated behavioral symptoms
• Associated physical illness
– Intellectual functioning

51. Physical characteristics
• Do not show any physical signs indicating the disorder
• High 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.
• Autistic children remain ambidextrous at an age when cerebral
dominance is established in most children.
• Higher incidence of abnormal dermatoglyphics than those in
the general population which suggest a disturbance in
neuroectodermal development.

52. Behavioural characteristics
• Qualitative impairments in social interaction
• Disturbances of communication and language
• Stereotyped behavior
• Instability of mood and affect
• Response to sensory stimuli
• Associated behavioral symptoms

53. Qualitative impairments in social interaction
• Do not exhibit the expected level of subtle reciprocal social
skills
• Lack of social smile and anticipatory posture for being picked
up as an adult approaches.
• Less frequent or poor eye contact
• Impaired attachment behavior.
• Do not differentiate important persons in their lives
• Extreme anxiety when their usual routine is disrupted
• When reached school age, their withdrawal may have
diminished and be less obvious, particularly in higher-
functioning children.

54. • Inappropriate and awkward social behaviour
• Increased visuo-spatial tasks
• Cannot infer the mental state of others around them.
• Cannot develop empathy.
• Unable to interpret the social behavior of others and leads to a lack
of social reciprocation.
• In late adolescence, autistic persons often desire friendships, but
their difficulties in responding to another's interests, emotions, and
feelings are major obstacles in developing them.
• Autistic adolescents and adults experience sexual feelings, but their
lack of social competence and skills prevents many of them from
developing sexual relationships.

55. Disturbances of communication and language
• Language deviance, as much as language delay
• difficulty putting meaningful sentences together
• their conversations may impart information without
providing a sense of acknowledging how the other person is
responding.
• impaired nonverbal communication skills may also be
• In the first year of life, an autistic child's pattern of babbling
may be minimal or abnormal. Some children emit noises-
“clicks, sounds, screeches, and nonsense syllables,” in a
stereotyped fashion, without a seeming intent of
communication.

56. • Exhibit speech that contains echolalia, both immediate and
delayed, or stereotyped phrases that seem out of context.
• Pronoun reversals.
• Difficulties in articulation
• Peculiar voice quality and rhythm.
• Children with autistic disorder sometimes excel in certain
tasks or have special abilities; for example, a child may learn to
read fluently at preschool age (hyperlexia), often astonishingly
well.
• Very young autistic children who can read many words,
however, have little comprehension of the words read.

57. Stereotyped behavior
• Exploratory play is absent.
• Toys and objects are often manipulated in a ritualistic
manner, with few symbolic features.
• Do not show imitative play or use abstract pantomime.
• The activities and play of these children are often rigid,
repetitive, and monotonous.
• Ritualistic and compulsive phenomena are common in
early and middle childhood.

58. • Children often spin, bang, and line up objects and may
exhibit an attachment to a particular inanimate object.
• Exhibit movement abnormalities.
• Stereotypies, mannerisms, and grimacing are most
frequent when a child is left alone and may decrease in
a structured situation.
• Resistant to transition and change. Moving to a new
house, moving furniture in a room, or a change, such as
having breakfast before a bath when the reverse was
the routine, may evoke panic, fear, or temper tantrums.

59. Instability of mood and affect
• Sudden mood changes, with bursts of laughing or
crying without an obvious reason.
• It is difficult to learn more about these episodes if
the child cannot express the thoughts related to
the affect.

60. Response to sensory stimuli
• Over respond to some stimuli and under respond
to other sensory stimuli (e.g. To sound and pain).
• Appear deaf, at times showing little response to a
normal speaking voice; on the other hand, the
same child may show intent interest in the sound
of a wristwatch.
• Heightened pain threshold or an altered response
to pain.

61. • Some autistic children do not respond to an injury by
crying or seeking comfort.
• Many autistic children reportedly enjoy music. They
frequently hum a tune or sing a song or commercial
jingle before saying words or using speech.
• Some particularly enjoy vestibular stimulation-
”spinning, swinging, and up-and-down movements.

62. Associated behavioral symptoms
• Hyperkinesis
• Hypokinesis alternates with hyperactivity.
• Aggression and temper tantrums
• Self-injurious behavior includes head banging, biting,
scratching, and hair pulling.
• Short attention span, poor ability to focus on a task,
insomnia, feeding and eating problems, and enuresis
are also common among children with autism.

63. Associated physical illness
• Higher-than-expected incidence of upper
respiratory infections and other minor infections.
• Gastrointestinal symptoms commonly found are
excessive burping, constipation, and loose bowel
movements.
• Increased incidence of febrile seizures
• Behavior problems and relatedness seem to
improve noticeably during a minor illness, and in
some, such changes are clues to physical illness.

64. Intellectual functioning
• 70 to 75 percent of children function in the mentally
retarded range of intellectual function. About 30 percent of
children function in the mild to moderate range, and about
45 to 50 percent are severely to profoundly mentally
retarded.
• risk for autistic disorder increases as the IQ decreases. one
fifth of all autistic children have a normal, nonverbal
intelligence.
• most severe problems with verbal sequencing and
abstraction skills, with relative strengths in visuospatial or
rote memory skills.

65. • Splinter functions or islets of precocity
The abilities, which may exist even in the overall
retarded functioning, are referred to as splinter
functions or islets of precocity.
– Examples are idiot or autistic savants, who have
prodigious rote memories or calculating abilities, usually
beyond the capabilities of their normal peers.
– Hyperlexia, an early ability to read well (although they
cannot understand what they read),
– Memorizing and reciting, and musical abilities (singing or
playing tunes or recognizing musical pieces).

66. DIFFERENTIAL DIAGNOSIS
• Asperger's disorder
• Pervasive developmental disorder unspecified.
• Mental retardation syndromes
• Developmental language disorders.
• Schizophrenia with childhood onset,
• Congenital deafness or severe hearing disorder,
• Psychosocial deprivation, and disintegrative (regressive)
psychoses.
• Mixed receptive-expressive language disorder
• Hearing disorders.

67. TREATMENT
The goals of treatment are
• To target behaviors that will improve their abilities to
integrate into schools,
• Develop meaningful peer relationships
• Increase the likelihood of maintaining independent
living as adults.
• Increase socially acceptable and prosocial behavior,
• To decrease odd behavioral symptoms,
• to improve verbal and nonverbal communication.

68. • Language and academic remediation
• Intellectually appropriate behavioral interventions
to reinforce socially acceptable behaviors and
encourage self-care skills.
• Support and counseling to parents
• Insight-oriented individual psychotherapy
• Educational and behavioral interventions are
currently considered the treatments of choice.

69. • Structured classroom training, in combination
with behavioral methods
• Careful training of parents regarding skills of
behavior modification and resolution of the
parents' concerns
• Rigorous training programs, involving much
parental time and a daily program for children for
as many hours as feasible is desirable.

70. • Facilitated communication
• The administration of antipsychotic like haloperidol
• The atypical antipsychotic agents include risperidone,
olanzapine, quetiapine, clozapine and ziprasidone.
• Lithium can be administered when antipsychotic
medications fail.

71. NURSING
MANAGEMENT

72. NURSING DIAGNOSIS 1
• Impaired social interaction related to delayed
development of secure attachment and altered
behavioral expression indicating the degree of
attachment, abnormal response to sensory
inputdisturbance in self-concept, ego development,
lack of intuitive skills to comprehend and accurately
respond to social cues.

73. NURSING DIAGNOSIS 2
• Impaired, verbal communication related to
neurological impairment, withdrawal into self,
inability to trust others, inadequate sensory
stimulation; maternal deprivation as evidenced by
lack of interactive communication

74. NURSING DIAGNOSIS 3
• Risk for self-mutilation related to neurological impairment,
inability to trust or relate to others, disturbance in self-
concept and ego development, abnormal response to
sensory input (sensory overload), frustration with inability to
get needs met, history of physical, emotional, or sexual abuse,
response to demands of therapy, realization of severity of
condition, history of self-injury/destructive behavior,
indifference to environment or marked distress over changes
in environment

75. NURSING DIAGNOSIS 4
• Disturbed personal identity related to organic
brain dysfunction (neurological impairment), lack
of development of trust, maternal deprivation,
fixation at presymbiotic phase of development

76. NURSING DIAGNOSIS 5
• Ineffective family coping: compromised/ disabling
related to family members unable to express feelings
related to having a severely disturbed child, excessive
guilt, anger, or blaming among family members
regarding child’s condition, ambivalent or dissonant
family relationships; disagreements regarding
treatment, coping strategies, prolonged coping with
problem exhausts supportive ability of family
members.

77. FAMILY ISSUES
• Supportive work with the family is mostly needed
when parents feel guilt for the condition of their
child and they feel depressed appears burnt out.
• Psycho education to the family to clarify
misconception of the parents and make them
understand the nature of the disorder. Importance
of training can be emphasized here.

78. • Family can also be helped with group work
interventions.
• Groups will help the families to share their feelings
and problems in a better way, will make parents
aware of the different ways of coping and
managing a given concern and will help them
overcome their sense of isolation.

79. • Parents need discussion time with the therapist
regarding having another child and related issues
like adoption.
• Sessions with the couple and sometimes with an
individual parent regarding their own needs like
sexual and companionship, which are unfulfilled
and lead to stress in the marital dyad need
discussion.

80. Autism and parenting

81. – Learn to be consistent with praise and positive
information, while you minimize negative
comments and punishment. Children will not
learn by being told what not to do -- instead, they
need continual and direct guidance on expected
behavior.
– Celebrate and build upon your child's interests
and accomplishments. Be creative, and realize that
these interests and strengths could lead to a
career.
– Set priorities and make a plan. Identify the top few
issues and needs for your family, and then develop
a plan and enlist others in achieving the plan's
priorities.

82. – You will serve as your child's case manager and
lifelong advocate, so organizing information about
your child is crucial.
– Intensive and ongoing interventions can have a
positive long-term impact on your child. In addition
to pursuing structured programming/educational
options, realize that your child is learning
continually. Be prepared to continually teach, coach
and guide your child in simple and complex learning
and social situations.

83. – Find leisure and recreational activities that the family
can enjoy together. Work with the school to teach
skills that will facilitate your child's involvement in
these activities.
– You can't do it alone, so ask for -- and accept -- help
from others.
– Work on establishing positive relationships with
professionals. You will need to work together closely
to resolve difficult issues. Focus your efforts on
attacking problems -- not each other.

84. – Take care of yourself and your health. You need
exercise, rest, laughter and time with friends and
others. Families comment that having a child with
autism is not a death sentence -- it is a life sentence.
Maintain your stamina. Practice staying calm and
finding humor each day.
– Kids grow up, so start early to encourage and enhance
behaviors that will help your child become more
successful as an adult. Do not encourage behaviors
that will minimize opportunities.

85. – Simplify your life and your child's life. Establish
routines and structure, although the demands
placed on your child should not be too rigid. Use
visual supports in your home to clarify expectations
and routines.
– Small steps may be major accomplishments for
your child. Acknowledge these and celebrate!
Courtesy:http://www.sheknows.com/parenting/articles/8151/the-
autism-diagnosis-and-family-stress