3. A group of conditions characterized by
three cardinal clinical features:
Qualitative impairments in social interactions
Qualitatively impaired verbal and non-verbal
communication
Restricted, stereotyped, repetitive
repertoire of behaviors, interests and
activities
4. Childhood autism
Atypical autism
Rett's syndrome
Other childhood disintegrative disorder
Overactive disorder associated with mental
retardation and stereotyped movements
Asperger's syndrome
Other pervasive developmental disorders
Pervasive developmental disorder,
unspecified
5. Kanner (1943) first described a syndrome of
“autistic disturbances’’
In DSM-I, autism was classified as a childhood
type of schizophrenia
6. Later studies provided more viable
operational definition to autism and the new
disorder was termed ‘infantile autism’
[Rutter et al 1978]
7. DSM-III, the term Pervasive Developmental
Disorders (PDD) was first used to describe
disorders characterized by distortions in the
development of multiple basic psychological
functions that are involved in the
development of social skills and language,
such as attention, perception, reality testing
and motor movement
8. In DSM-III, autism was also clearly
differentiated from childhood schizophrenia
and other psychoses for the first time, and
the absence of psychotic symptoms, such as
delusions and hallucinations, became one of
the six diagnostic criteria.
9. Asperger syndrome was first included as a
diagnostic category in DSM-IV and ICD-10
10. The current estimates are 30–100 per 10,000
for all ASD, including 13–30 per 10,000 for
autism and 3 per 10,000 for Asperger
disorder
[Baird et al 2006]
11. Males are about four times more often
affected than females, with gender
differences even more pronounced in the
normal range of intellectual functioning, up
to a male : female ratio of 6:1
[Fombonne, 2003]
12. Medical conditions that may be associated with
autism are
Tuberous sclerosis
Cerebral palsy
Fragile X syndrome
Phenylketonuria
Neurofibromatosis
Congenital rubella
Down’s syndrome
Angelman syndrome
[Fombonne, 2003]
14. Twin studies has found significant
concordance rate among monozygotic twins
compared to dizygotic twins
[Rutter et al 1968,Steffenberg et al
1989,Bailey et al 1985]
15. Three or four genes are most probable but
any number between 2 to10 is also a
possibility.
[Prickles et al 2000]
Genes like RELN & Bcl-2 have been found to
involve in neuronal dysregulation
[Persico et al 2001, Fatemi et al 2001]
16. There is consistent evidence of
chromosome15 anomalies associated with
autism
[Baxbaum et al 2002]
17. MECP2 gene mutation has been found in
many cases of Rett’s syndrome.
[Guy et al 2001]
A postulated locus on 7q gene includes many
candidate genes for ASD
[Lai et al 2001]
18. The most consistently reported findings in
autism research involves enlarged brain
volume
The first report of this correlation came in
Kanner’s original article reporting this
condition
19. Approximately 20% of children with autism
have macrocephaly
[Fommbonne et al 1999]
Overgrowth is restricted to childhood
(mainly first 2-3yrs) which is followed by
abnormal slowing down
[Courchsene et al 2002]
20. The implication of enlarged brain volume in
children with autism is unclear at this time.
However, there is a growing consensus that
larger volumes may be due to increased
neuronal growth or decreased neuronal
pruning
[Akshoomoff et al 2002]
21. A number of neurotransmitter abnormalities
have been detected in autism, including
abnormal levels of serotonin, GABA,
glutamate, oxytocin, and opioids in blood
and/or cerebrospinal fluid and atypical
dopamine and serotonin synthesis
[H E Penn 2006]
22. Some of these cases involve a loss of
cerebellar cortex granular cells and nearly
all involve a significant loss of Purkinje
neurons in the cerebellar vermis and
cerebellar hemispheres
[Allen & Courchesne, 2003]
23. Link between temporal lobe and autism
A number of case reports reveal that children
who have experienced temporal lobe damage
due to viral encephalitis or tumors may develop
autistic symptoms
[Gillberg, 1986; Hoon & Reiss, 1992; Taylor et
al, 1999]
Autistic symptomatology in tuberous sclerosis
related to abnormalities in the temporal lobes
(Asano et al, 2001; Bolton & Griffiths, 1997)
24. In a large postmortem study, Kemper and
Bauman (1998) reported amygdala
abnormalities, predominantly in cortical,
medial, and central amygdala nuclei, in nine
out of nine cases
The fusiform gyrus (FG) and other cortical
regions supporting face processing in controls
are hypoactive in patients with autism
[van Kooten et al 2008]
25. Research from a wide variety of sources links
the prefrontal cortex with impairments in
autism
[H E Penn 2006]
Aberrant activation in the ventromedial
prefrontal cortex, the anterior cingulate
cortex, and temporal poles adjacent to the
amygdala during theory of mind tasks in
individuals with ASD
[Baron-Cohen et al 1999; Castelli et al
2002]
26. Mundy (2003) proposed that a general
disturbance in visual orienting (starting in
infancy in autism) may result from
impairment in a complex axis of cerebellar,
parietal and frontal functions involved in the
development and control of attention
27. Some evidence suggests that autism may be
associated with decreased connectivity
between neural sites, or reduced integration
and synchronization across neural structures
[Just et al 2004]
Cell migration errors and decreased dendritic
branching seen in postmortem studies may
be the cause of neuronal dysregulation
[Bailey et al 1998,Blatt et al 2001]
28. With repeated or extensive testing, EEG
abnormalities are found in about 50% of
individuals with autism
[Minshew et al 1991]
29. Recent studies have linked a dysfunction in
the mirror neuron system (MNS), a neural
system thought to underlie simulation
processes, to the social deficits seen in ASD
[Oberman & Ramachandran 2007]
30. Typical mu-suppression for familiar stimuli,
but not for unfamiliar stimuli, leads to a
conclusion that the mirror neuron system of
children with ASD was functional, but less
sensitive than that of typical children
[Oberman & Ramachandran 2008]
31. In individuals with autism, deficits in
intention understanding, action
understanding and biological motion
perception (the key functions of mirror
neurons) are not always found, or are task
dependent
[Hamilton AF 2008,Murphy P et al 2009]
32. Cognitive models have been developed in an
attempt to explain the heterogeneous
clinical manifestations of ASD by a so-called
core deficit
33. The theory of mind hypothesis proposes that
individuals with ASD have a fundamental
problem in attributing mental states such as
feelings, desires, intentions, fantasies,
dreams and beliefs to others and oneself
[Baron-Cohen, 1995]
34. Social dysfunction in autism is typically
present prior to the time at which even the
earliest precursors of a theory of mind
emerge
[Klin et al 1992]
35. The theory of mind hypothesis is less able to
explain the lack of spontaneous and original
activity of persons with autism, their
repetitive behavior, their impairment in
understanding conversation
[Yirmiya et al 1992]
36. The central coherence theory originally
suggested that a core deficit in processing
information for meaning and for
global(gestalt) form would explain the social
symptoms in ASD
[Frith, 1991]
37. Weak global extraction of information may
be the result of a superior performance in
local processing of details, rather than vice
versa
[Frith & Happé, 1994]
38. Multiple studies have identified EF deficits in
preschoolers, children and adolescents as
well as adults with autism
[Geurts et al 2004]
39. The interview with the parents or caregivers
should cover both the core features of ASD as
well as comorbid symptoms such as
aggression, tantrums, hyperactivity,
inattention, impulsivity, sleep problems and
self-injury
40. The approach requires a dual process:
Routine developmental surveillance and
screening specifically for autism to be
performed on all children to first identify
those at risk for any type of atypical
development, and to identify those
specifically at risk for autism
To diagnose and evaluate autism, to
differentiate autism from other
developmental disorders
[AAP Guidelines 2007- Johnson et al]
41. At present, the average reported age of
diagnosis for autism is 5.7 years; however, it
is recognized that parents or caregivers have
suspicions of autism in their children prior to
2 years of age and often by 18 months of age
[Shattuck PT et al 2009]
42. Diagnostic evaluation in children younger than
the age of 2-3 remains challenging
1. Children with ASDs, with more intact
language and intellectual development, may
have more subtle symptoms at an early age
2. Difficult to distinguish between ASDs and
other atypical patterns of development at an
early age
3. Still uncertainty about stability of ASD
diagnoses in this age group
[Zwaigenbaum et al 2009]
43. About 1/4 children with ASD have regressive
types of symptoms, that is, they had typical
or near typical acquisition of developmental
milestones, particularly language, and then
seemed to lose these around age 18 to 24
months
[Landa RJ et al 2007]
44. Children with ASD are distinguished from other
kids of same age at 12 months by:
Behavioral markers- atypicalities in eye
contact, visual tracking, disengagement of
visual attention, orienting to name,
imitation, social smiling, reactivity, social
interest and affect, and sensory-oriented
behaviors
[Zwaigenbaum et al 2005]
45. Temperament, with marked passivity and
decreased activity level at 6 months,
followed by extreme distress reactions, a
tendency to fixate on particular objects in
the environment, and decreased expression
of positive affect by 12 months
Delayed expressive and receptive language
[Zwaigenbaum et al 2005]
46. Social Skills Deficits
Deficits in joint attention[JA] to be one of
the most distinguishing characteristics of
very young children with ASDs
[Mundy P et al 1997]
JA is a normal, spontaneously occurring
behavior whereby the infant shows
enjoyment in sharing an object (or event)
with another person
47. Social Skills Deficits
At approximately 8 months of age, an infant
will follow the parent’s gaze and look in the
same direction when a parent looks away
Children begin to “follow a point” at
approximately 10 to 12 months of age
[Zwaigenbaum et al 2005]
48. Social Skills Deficits
Infants with ASD may not follow a point,
even when one tries repeatedly in a loud
voice calling their name or uses physical
prompts, such as touching the child’s
shoulder before pointing
They may look in the indicated direction
eventually, but this is not followed by shared
looking and expression
49. Social Skills Deficits
At approximately 12 to 14 months of age, the
typically developing child will begin himself
to initiate a point, at first to request a
desired object that is out of reach which is
called “protoimperative pointing’’
A couple of months later, to draw the
parent’s attention to share an interesting
object, person, or event which is called
“protodeclarative pointing”
50. Some children with ASD may make
rudimentary pointing efforts by opening and
closing their hand while it is raised in the
direction of desired item but without any
back-and-forth looking between it and the
caregiver
Mastery of protodeclarative pointing a reliable
predictor of functional language development
within 1 year
[National Research Council, Committee on
Interventions for Children With Autism 2001]
51. Communication Deficits
Lack of recognition of mother’s (or father’s
or consistent caregiver’s) voice
Disregard for vocalizations (ie, lack of
response to name), yet keen awareness for
environmental sounds (Selective hearing)
Delayed onset of babbling past 9 months of
age
52. Communication Deficits
Lack of the alternating to-and-fro pattern of
vocalizations
Children with milder symptoms especially
those with normal cognitive skills, may have
some speech but their speech may not be
functional or fluent and may lack
communicative intent
53. Play Skills
Lack of, or significantly delayed, pretend play
skills coupled with persistent sensory-motor
and/or ritualistic play are characteristic of ASDs
The play of children with ASDs often is repetitive
and lacks creativity and imitation
Often are content to play alone for hours,
requiring little attention or supervision
[Heidgerken AD et al 2005]
54. Stereotyped Patterns of Behavior, Interests, and
Activities
Although most children, at some time during
their early development, form attachments with
a stuffed animal, special pillow, or blanket,
children with ASDs may prefer hard items
(ballpoint pens, flashlight, keys, action figures)
However, typical stereotyped activities don’t
develop before 3yrs of age
[Twachtman-Cullen D et al 2000]
55. Early identification of ASD is now considered
to be clinical best practice, because it
enables avoidance of unnecessary medical
shopping for parents with clinical concerns,
provides for early guidance and genetic
counseling and starting early interventions
[Charman & Baird, 2002]
56. Level 1 screening tools administered in
primary care, designed to differentiate ASDs
from the general population, especially those
with typical development
Level 2 screening tools used in early
intervention programs or developmental
clinics, to differentiate ASDs from those at
risk of other developmental disorders
[AAP Guidelines 2007- Johnson et al.]
57. Level 1
Checklist for Autism in Toddlers (CHAT).
[Baron-Cohen et al1992]
Checklist for Autism in Toddlers (M-CHAT)
[Robins et al 2001]
Early Screening for Autistic Traits (ESAT)
[Swinkels et al 2006]
Communication and Symbolic Behavior Scales
Developmental Profile [CSBS DP]
58. Level 2 scales:
Autism Behavior Checklist(ABC)-18 months
[Krug et al 2008]
Childhood Autism Rating Scale (CARS)-2 yrs
[Schopler et al 1988]
Pervasive Developmental Disorders Screening
Test (PDDST-II)- 1 to 4 yrs
[Siegel, 2004]
59. Stereotyped Patterns of Behavior, Interests, and
Activities
Stereotypies are repetitive, nonfunctional,
atypical behaviors such as hand flapping, finger
movements, rocking, or twirling
[Chawarska K et al 2005]
Restricted interests in ASD differs from normal
children in terms of narrowness of the focus,
inflexibility, perseveration and lack of social
quality
[Fuentes et al 2012]
60. Stereotyped Patterns of Behavior, Interests,
and Activities
Self-injurious behaviors may be precipitated
by frustration during unsuccessful
communication attempts, transitions,
anxiety in new environments,boredom,
depression, fatigue, sleep deprivation,or pain
[Maestro S et al 2006]
61. Sensory-Motor Symptoms
Children with ASDs may demonstrate
simultaneous hyposensitivities and
hypersensitivities for stimuli within the same
sensory modality
May demonstrate atypical motor
development, poor coordination, or deficits
in praxis
[Anzalone ME et al 2000]
63. Diagnostic
Autism Diagnostic Observation Schedule
(ADOS)- 0.5 to 1.5 yrs [Lord et al 2001]
Autism Diagnostic Interview–Revised (ADI-R)-
> 2yrs [Lord et al 1994]
Diagnostic Interview for Social and
Communication Disorders (DISCO)- All ages
[Wing et al 2002]
Gilliam Autism Rating Scale (GARS) -3–22 yrs
[Gilliam 2006]
64. A comprehensive physical examination is an
indispensable component of the assessment
Particular attention should be paid to the
presence of identifiable clinical syndromes,
such as tuberous sclerosis (including the use
of Wood’s light to assess any skin lesions) or
neurofibromatosis, dysmorphic features and
any localizing neurological impairments
65. Vineland Adaptive Behavior Scale is a semi-
structured interview with parents or
caregivers to measure functional ability in
everyday life on three domains:
communication, daily living and socialization
[Sparrow et al 1984]
66. The main aims of the treatment of ASD are
[Rutter, 1985]:
As much as possible to facilitate and
stimulate development of cognition,
language and socialization;
To decrease autism bound maladaptive
behaviors such as rigidity, stereotypy, and
inflexibility;
To reduce or even eliminate nonspecific
maladaptive behaviors such as hyperactivity,
irritability and impulsivity ;
To alleviate stress and burden for the family
67. The treatment of individuals with ASD should
be multimodal, with a combination of
Family counseling
Structured and special educational
techniques
Individual behavior modification
Home training
Placement in special schools or daycare
centers
68. Interventions categorized as behavior
analytic, developmental, or structured
teaching on the basis of the primary
philosophical orientation but with overlap
Common Goals
Early Intensive (20 h per week) intervention
Low student-teacher ratio
Inclusion of family
Generalization
Interaction with normal peers
69. ABA methods are used to increase and
maintain desirable adaptive behaviors, reduce
interfering maladaptive behaviors or narrow
the conditions under which they occur, teach
new skills, and generalize behaviors to new
environments or situations.
Discrete trial training- One of most important
techiques
Criticized for problems with generalization of
learned behaviors
Incidental teaching and pivotal response
training, may enhance generalization of skills.
70. In a landmark study, Lovaas (1987)reported
that 9 out of 19 preschoolers with autism
who received two years of intensive
behavioral intervention [IBI] for 40 hours per
week became indistinguishable from their
peers by age six
71. Treatment and Education of Autistic and
related Communication-handicapped
Children program (TEACCH)- Structured
Teaching
Organization of the physical environment,
predictable sequence of activities, visual
schedules, routines with flexibility,
structured work/activity systems, and
visually structured activities
72. Developmental Models
The Denver model, for example, is based
largely on remediating key deficits in
imitation, emotion sharing, theory of mind
and social perception by using play,
interpersonal relationships and activities to
foster symbolic thought and teach the power
of communication
73. Speech and Language Therapy
Didactic and naturalistic behavioral
methodologies studied most thoroughly, but
there is also some empirical support for
developmental-pragmatic approaches (eg,
Social Communication Emotional Regulation
Transactional Support, Denver model)
Very young or nonverbal subjects by the
Picture Exchange Communication System
[Bondy & Frost, 1998, 2001]
74. Social Skills Instruction
A social skills curriculum should target
responding to the social overtures of other
children and adults, initiating social
behavior, minimizing stereotyped
perseverative behavior while using a flexible
and varied repertoire of responses, and self-
managing new and established skills.
75. Social Stories, which is the use of cartoon-
type illustrations to help children understand
how to respond in social situations, or peer-
mediated intervention
[Roeyers, 1996]
76. Occupational Therapy and Sensory
Integration Therapy
Traditional occupational therapy often is
provided to promote development of self-
care skills (eg, dressing, manipulating
fasteners, using utensils, personal hygiene)
and academic skills (eg, cutting with
scissors,writing).
77. Interventions for early childhood ASDs are
not proven/ studied to be effective or even
appropriate, for children younger than 2 yrs
Intervention should be rooted in social play,
as well as those that occur within the
context of caregiving and not the directive
teaching
[Zwaigenbaum et al 2009]
78. Several randomized treatment trials are
currently underway regarding intervention in
infants and toddlers including trials involving
the
Early Start Denver Model
Responsive Teaching
Hanen’s “More Than Words’’
The Early Achievements model
The Social Communication
Emotional Regulation
Transactional Supports (SCERTS) model
79. When children with ASDs move beyond
preschool and early elementary programs,
educational intervention continues to involve
assessment of existing skills, formulation of
individualized goals and objectives, selection
and implementation of appropriate
intervention strategies and supports
80. Comprehensive transition planning involves
the student, parents, teachers, the medical
home, and representatives from all
concerned community agencies
In adolescence, attention should be paid to
sexuality issues that may be relevant to ASD –
such as masturbation, inappropriate
touching, privacy issues and public exposure
81. Medication treatment has not been shown to
influence the core symptoms of ASD, but may
be considered when troublesome target and
comorbid symptoms such as aggression,
temper tantrums, irritability, hyperactivity,
self-injurious behavior, rigidity, anxiety and
sleeping problems do not respond to
behavioral interventions or seriously
interfere with the application of these
interventions
82. Risperidone in low daily doses (0.5–1.5 mg
for most subjects) appears to be effective in
decreasing irritability,temper tantrums,
hyperactivity, aggression and self-injurious
behavior in ASD, but without convincing
positive effects on the core symptom
83. Sleep dysfunction which is common in
children with ASD can be managed with
melatonin or ramelteon
[Giannotti et al 2006]
84. Individuals with ASD reach a higher level of
social functioning in highly structured than in
unstructured situations
The intensity of social stimulation offered
should be adjusted to the level that can be
handled
85. Once a family has a child with ASD, the risk
of recurrence of ASD in subsequent children
rises to 3–7%. Therefore, parents need
appropriate counseling on genetic issues
86. In some countries, patients and their families
are organized into National Autistic Societies
which hold information evenings where
parents can meet each other and where
“non-professional” support is given
87. Opportunities for adequate education are
essential, as follow up studies have indicated
that children who complete some form of
education have a better outcome
[van der Gaag 1993]
Specialist-supported employment services
have been designed for high-ability adults
with autism; approximately 68% of clients
found employment in USA
[Howlin et al 2005]
88. Most children with autism are identified by
their parents as showing abnormalities or
delays in the second year of life, and many
parents suspect problems long before this
[Zwaigenbaum et al 2005]
89. Parents who have already had a child tend to
recognize social deficits earlier than parents
of firstborns, and social deficits are often
less recognizable in very young children than
when they are older
[DeGiacomo & Fombonne, 1998]
90. Many autistic children under the age of 3
years do not yet show clear examples of
restricted or repetitive behaviors
[Cox et al 1999]
It has long been noted that about one-
quarter to one-third of all children with ASD
appear to lose previously acquired language
skills
[Rutter, 2005]
91. Data from 13 follow-up studies extending
into adult life show a general pattern of
modest improvement over time
[Howlin, 2005]
Autism is a lifelong disorder, and the
likelihood of complete independence is low
[Rutter, 2005]
92. In individuals with an IQ above 70, only about
one-quarter show good social functioning
Comparisons of outcome studies over the last
30 years suggest that among those of
intelligence within the normal range, there
has been some increase in the proportion
obtaining employment
93. In a large follow-up study with a low attrition
rate and using systematic interviews to
obtain clinical information Hutton, Goode,
Murphy et al. [2008] found that 16% of the
autistic participants developed a definite
new psychiatric disorder that was not just a
worsening of pre-existing autistic features
94. Five out of 135 developed an obsessive
compulsive disorder; a further eight
developed affective disorders with marked
obsessional features; and seven developed
complex or straightforward affective
disorders
One-fifth of individuals with ASD followed
into adult life experience one or more
epileptic attacks and that about two thirds of
these had their onset in adolescence or adult
life
95. There was no case of schizophrenia in this
study
There are reports of autistic individuals who
show isolated psychotic symptoms, including
hallucinations and delusional thoughts
[Clarke et al 1989]
96. There are a number of largely anecdotal
reports of offending by people with autism or
Asperger syndrome
[Ghaziuddin et al 1991]
97. A non-verbal IQ below 50 in preschool years
is associated with a reduced likelihood that
the child will acquire a useful level of spoken
language and a very low probability of good
social functioning in adolescence or
adulthood
[Lockyer & Rutter et al 1969]
98. External factors, including appropriate junior
and secondary school provision, improved
transitional programs for entry into college
and supported employment schemes, are
also crucial
[Howlin et al 2005]
99. ASD are a group of disorders affecting mainly
social and communicative development
Early detection and intervention is of
paramount importance
Social factors like education and employment
play important roles in the outcome
100. Further research in the field of genetics and
neurophysiology [Eg: Mirror neurons] is
necessary
101. In India national centre for autism, New
Delhi was inaugurated in 2006-
http://www.autism-india.org
Academy for Severe Handicaps and Autism
– ASHA- www.ashaforautism.com/
Communications DEALL : Home
www.communicationdeall.org/
Spastic society of Karnataka
Deepika-HFA
http://www.asatonline.org/treatment/video
s
https://www.firstsigns.org/asd_video_glossar
y/asdvg_about.htm
