By Dr.

Fatima
PGR Psychiatry
HMC, MTI, Peshawar
ASD is a neurodevelopmental disorder that arises from atypical brain development, characterized by
impairments in reciprocal social communication and a tendency to engage in repetitive stereotyped
patterns of behaviors, interests, and activities.
 CLINICAL
CHARACTERISTICS
 i. Abnormalities of social
development
◦ In both DSM-5 and ICD-10, three main
categories of abnormality are important
for diagnosis. ii. Abnormalities of
communication
◦ They reflect the features highlighted in
Kanner (1943), who first described the
syndrome.
iii. Restriction of interests
and behavior
 ABNORMALITIES OF
SOCIAL DEVELOPMENT
◦ The child is unable to form warm emotional relationships with people (autistic aloneness).
◦ They might not respond to their parents’ affectionate behavior by smiling or cuddling and
appear to dislike being picked up or kissed.
◦ They are sometimes no more responsive to their parents than to strangers, and do not show
interest in other children.
◦ There can be little difference in their behavior towards people and inanimate objects.
◦ A characteristic sign is gaze avoidance, that is, the absence of eye-to-eye contact.
ABNORMALITIES
OF
COMMUNICATION
◦ Speech may develop late or never appear.
◦ Occasionally, it develops normally until about the age of 2 years and then disappears in part or
completely. This lack of speech is a manifestation of a severe cognitive defect.
◦ As children with ASD grow up, about 50% acquire some useful speech, although serious
impairments usually remain, such as the misuse of pronouns and the inappropriate repeating of
words spoken by other people (echolalia).
◦ Some children are talkative, but their speech can be repetitive monologue rather than a
conversation with another person.
◦ The cognitive defect also affects non-verbal communication and play, as the child might not
take part in the imitative games of the first year of life, and later they do not use toys in an
appropriate way.
◦ They show little imagination or creative play.
RESTRICTION OF INTERESTS
& BEHAVIOR
◦ There is an “obsessive desire for sameness” which is a term often applied to children with
ASD stereotyped behavior, and to their distress if there is a change in the environment.
◦ For example,
i. Some children insist on eating the same food repeatedly.
ii. Some insist on wearing the same clothes.
iii. Some engage in repetitive games.
iv. Some are fascinated by spinning toys.
◦ Odd behavior and mannerisms are common.
◦ Some children carry out odd motor behaviors such as whirling round and round, twiddling
their fingers repeatedly, flapping their hands, or rocking.
◦ Others do not differ obviously in motor behavior from normal children.
OTHER FEATURES
◦ Children with ASD may suddenly show anger or fear without apparent reason.
◦ They may be overactive and distractible.
◦ They may sleep badly.
◦ They may soil or wet themselves.
◦ Some injure themselves deliberately.
◦ 25% of autistic children develop seizures, usually about the time of adolescence.
INTELLIGENCE LEVEL
• Some form of intellectual disability is identified in 25–50% of individuals with ASD.
• The most common pattern are poor language and social comprehension but with
relative strengths—‘splinter skills’—in visuospatial abilities.
• Among high functioning individuals (those likely to fall under the ICD-10
Asperger’s syndrome), the opposite pattern may occur, or there may be pragmatic
difficulties with the social use of communication.
• Some children show areas of ability despite impairment of other intellectual functions, and in some cases they have
exceptional but restricted powers of memory or mathematical skill.
• Some children with higher functioning often develop intense circumscribed interests that can be seen in typically
developing children but are pursued in a solitary, non-social manner.
◦ Although there is a tendency for core behaviors to improve over time, some may persist and
cause difficulties in the long term.
◦ Those affected can have difficulties with;
i. Independent living
ii. Motor coordination
iii. Sensory sensitivities
iv. Sleep and eating problems
v. Mental health difficulties
vi. Behaviors that place themselves and others at risk
CLINICAL CLUES
FOR AUTISM
SPECTRUM
DISORDER
 IN PRESCHOOL CHILDREN

i. Delay or absence of spoken language

ii. Not responsive to other people’s feelings
iii. Lack of pretend play or social play
iv. Unable to share pleasure
v. Does not point out objects to another person
vi. Unusual or repetitive hand and finger mannerisms
vii. Unusual reactions to sensory stimuli
 IN SCHOOL-AGE CHILDREN
i. Persistent echolalia
ii. Reference to self as ‘you’, ‘she’, or ‘he’ beyond 3 years
iii. Unusual vocabulary for child’s age
iv. Tendency to talk freely only about specific topics
v. Inability to join in play of other children (occasionally
disruptive)
vi. Easily overwhelmed by social and other stimulation
vii. Extreme reactions to invasion of personal space
viii. Difficulty managing change
 IN ADOLESCENT
CHILDREN
i. Socially ‘naïve’, not as
independent as peers
ii. Speech peculiarities
iii. Difficulty making and
maintaining peer friendships
iv. Preference for highly specific,
narrow interests or hobbies, or
may enjoy collecting,
numbering, or listing
v. Strong preferences for familiar
routines
vi. Problems using imagination
EPIDEMIOLOGY
• A prevalence rate for ASD is around 1% in high-income and lower in low- and middle-
income countries.

• The prevalence of ASD is much higher in boys than in girls, with a ratio as high as 5 or 6 to
1.
POSSIBLE ETIOLOGY
GENETIC STUDIES
◦ ASD has a strong genetic basis.
◦ The heritability of ASD in the population is around 90%.
◦ The rate of ASD is about 25 times higher in siblings of affected children than in the general
population.
◦ The genetic predisposition in many cases results from the combination of multiple common
polymorphisms of small effect.
◦ There are also copy number variants (CNVs) that are rare but confer a larger risk.
◦ Some cases that are caused by specific gene mutations or chromosomal abnormalities.
 GENETIC ARCHITECTURE OF AUTISM
SPECTRUM DISORDER

◦ In terms of inheritance pattern:

i. Complex—additive risk from multiple genes
ii. Autosomal recessive (e.g. Smith–Lemli–Opitz syndrome)
iii. Autosomal dominant (e.g. Timothy syndrome; tuberous sclerosis complex)
iv. X-linked (e.g. fragile X syndrome; Duchenne muscular dystrophy)
◦ In terms of mechanism:
i. Single nucleotide polymorphisms
ii. Copy number variation (CNV; e.g. 16p11.2 duplication; NRXN1 deletion)
iii. Chromosomal translocation (e.g. Phelan–McDermid syndrome)
iv. Trinucleotide repeat expansion (e.g. fragile X syndrome)

◦ Evidence is steadily accumulating that the highly heterogenous and functionally diverse set of
ASD genes identified so far converges on a smaller set of specific molecular pathways or brain
circuit possibly contributing to aberrant synaptic pruning.
◦ Altered gene expression is also implicated, with differences in two modules of co-expressed
genes being observed in the brain in autism.
◦ The first module, related to synaptic function and neuronal projection, was under expressed.
◦ The second module, which was enriched for immune genes and glial markers, was
overexpressed.
◦ These data support the view that synaptic dysfunction as well as immune dysregulation are
important in the pathogenesis of ASD.
NEUROIMAGING

◦ Neuroimaging studies have

shown that the brain matures
along an atypical trajectory.
◦ This leads to differences in
neuroanatomy, functioning,
and connectivity within the
wider neural systems that
probably mediate autistic
symptoms and traits.
 v. Genetic disorders like fragile X, muscular
dystrophy, neurofibromatosis, and tuberous
sclerosis

RISK iv. Maternal use of valproate in

FACTORS pregnancy

iii. Gestational age less than 35

weeks
i. Sibling with autism

ii. Birth defects, including cerebral

palsy
 v. Exposure to drugs & toxins

OTHER POTENTIAL
iv. Maternal & paternal age
RISK FACTORS

iii. Socioeconomic status

i. Obstetric complications

ii. Immune dysfunction

OBSTETRIC
COMPLICATIONS

◦ It is not clear whether these are a true risk

factor or represent an outcome associated
with a primary abnormality in the fetus.
IMMUNE
DYSFUNCTION

◦ Studies show a variety of peripheral and

central immune changes, including T cell
dysfunction and microglial and astroglial
activation.
SOCIOECONOMIC
STATUS
◦ Socioeconomic status might influence ASD, as
risk is increased for children with mothers born
abroad, with the risk for low-functioning autism
peaking when migration occurred around the
time of pregnancy.
◦ Different mechanisms can be proposed to
explain these results, such as;
i. The high level of maternal stress
ii. Low immunity regarding common
infections
MATERNAL AND PATERNAL
AGE:

◦ Studies have suggested that both

maternal and paternal age are risk
factors for autism, with paternal age
perhaps playing a more significant role
◦ This might be because of a high
frequency of point mutations, gene
imprinting effects, genetic changes in
sperm cells, de novo CNVs, or
epigenetic influences that may increase
risk of autism in the offspring.
EXPOSURE TO
DRUGS AND TOXINS
◦ Exposure to drugs and toxins may increase
autism risk.
◦ Prenatal exposure to valproate is a
recognized risk factor for ASD, especially
in the first trimester of pregnancy; children
exposed in utero to valproate have an
eightfold increased risk for ASD.
◦ Use of selective serotonin reuptake
inhibitors (SSRIs) during pregnancy has
also been suggested to modestly increase
the risk of ASD, but data are weak.
◦ Exposure to toxins, especially pesticides,
may increase ASD risk.
◦ There have been a number of other associations by the public, media, and scientific
community proposed about possible causes of ASD, involving speculation about mechanisms,
including;
i. Immunological causes (infections or vaccinations such as MMR)
ii. Exposure to mercury in tooth fillings
◦ There is, however, a lack of scientifically valid evidence to support any of these theories.
◦ A proposed association between increased rates of autism in children whose mothers took
SSRIs in pregnancy is likely to be confounded by the more general association between
depression in mothers and increased rates of autism in their children.
PROGNOSIS
◦ Longitudinal studies have found ASD to be a stable diagnosis.
◦ There is wide variation in outcome, with between <5% and 25% having a very good outcome
from childhood to adult;
i. Around 10–20% of children with childhood autism begin to improve between the ages
of about 4 and 6 years, and are eventually able to attend an ordinary school and obtain
work.
ii. A further 10–20% can live at home, but cannot work and need to attend a special school
or training center, and remain very dependent on their families and/or support services.
iii. The remainder, at least 60%, improve little and are unable to lead an independent life;
many need long-term residential care.
◦ Those who improve may continue to show language problems, emotional coldness, and odd
behavior. As a substantial minority develop epilepsy in adolescence.
◦ Periods of transition can be particularly difficult, such as becoming an adolescent and then
becoming an adult, where at times functioning can be seen to deteriorate.
 Early diagnosis and treatment

Better language abilities

FACTORS
Better imitation and motor skills
FAVORING A
POSITIVE Higher cognitive abilities and IQ
OUTCOME
Decreased severity of ASD symptoms

Parental involvement in intervention

 Lack of functional speech by 5 years

FACTORS Low IQ (<70)

ASSOCIATED
WITH LESS Severe ASD features

FAVOURABLE
Presence of neurodevelopmental co-morbidities
OUTCOME
Presence of medical co-morbidities
DIFFERENTIAL DIAGNOSIS
 Rett
ADHD
syndrome

DIFFERENTIAL
Neurodevelopmental disorders Intellectual disability
DIAGNOSIS

Communic
ation Deafness
disorder
ASSESSMENT
• Assessment should include ASD-specific developmental history, ASD observational assessments,
and standardized individual assessments should be undertaken.
• The following additional factors need to be considered:

◦ Cognitive level ◦ Stage of social development in relation to

◦ Language ability age, mental age, and stage of language
◦ Communication skills, social skills, and development
play ◦ Associated medical conditions (e.g.
◦ Repetitive or otherwise abnormal behavior comorbid epilepsy)
◦ Psychosocial factors, including the needs of
the family
◦ Individual ASD assessments (through direct interaction and observation) often use an ASD-
specific tool such as
i. The Autism Diagnostic Observation Schedule (ADOS)
ii. The Diagnostic Interview for Social and Communication Disorders (DISCO)
iii. The Development, Dimensional and Diagnostic Interview (3di)
iv. The Child Autism Rating Scale (CARS)
MANAGEMENT
◦ The key aspect of management for a child with ASD is to have an individualized approach
informed by the specific strengths and difficulties of the child, which also manages the changing
developmental needs and goals of the child.
◦ The management will often need to consider a number of key areas, which include;
i. Reducing the core symptoms and behaviors of ASD
ii. Enabling individuals to achieve their potential
iii. Treating comorbid or co- occurring problems, including difficulties encountered by
caregivers
iv. Supporting the family through education and specific evidence-based approaches
 MANAGEMENT OF
ABNORMAL BEHAVIOR
◦ Early intensive behavioral intervention (EIBI) is the most studied preschool intervention and
along, with a number of other, predominantly behaviorally informed interventions, has been
shown to improve short-term outcomes for preschool children.
◦ These interventions include strategies for parents, teachers, and carers to improve joint
attention skills and reciprocal communication, often through interactive play and action
routines.
◦ Social skills training and peer mediated social communication interventions are used in older
children. show some promise.
◦ The social communication programs may help address social isolation, but there is little
evidence, to date, for interventions to treat the core features of restricted, repetitive behaviors
or sensory sensitivities.
 Sensory integration therapy Auditory integration therapy Visual therapies
OTHER
INTERVENTIO
NS

Music therapies Diet Vocational programs

IDENTIFICATION AND TREATMENT OF CO-
OCCURRING MENTAL HEALTH PROBLEMS
◦ Children with ASD have higher rates of other mental health problems, including ADHD,
oppositional defiant disorder, OCD, anxiety disorders, and mood disorders.
◦ Evidence based interventions for these disorders are recommended, with necessary
modifications to meet the needs of the per-son with ASD.
◦ For example,
i. CBT for children with anxiety disorders can help if they have good verbal and cognitive
capacity
ii. Family and school-based interventions for those with ADHD
◦ The response rate for stimulant medication for ADHD is lower for a child with ASD.
◦ There is little good evidence to support the use of SSRIs for OCD, mood, and anxiety
disorders.
◦ There is some evidence to support the use of antipsychotic medication to ameliorate associated
symptoms of aggression and irritability, but these should be used with caution.
EDUCATIONAL ISSUES
◦ Depending on the level of cognitive and verbal skills of the child, try and include children
with ASD within mainstream schools.
◦ Some children with ASD will require special educational environments.
◦ If the difficulties are so severe that the child can not stay in the family, residential schooling is
necessary.
◦ In some cases, the educational and residential needs of children with ASD can be provided
through the services for the intellectually disabled.
◦ Older adolescents may need vocational training.
FAMILY SUPPORT
◦ The general principles of interventions should be the management of behaviors that challenge.
◦ The family might need prompt assessment of their child’s needs and easy access to appropriate
educational and other provisions.
◦ A voluntary organization in which the parents can meet other parents of children with ASD
and discuss common problems.
THANK YOU FOR
COOPERATION