Autism Spectrum

Disorders (ASD)

Manish Naidu Maradana

Roll No. 106
Autism Spectrum Disorder (ASD) is a complex
neurodevelopmental condition that affects
communication skills, social behavior, and
associated stereotypic and restrictive behavioral
patterns, with onset before 3 years of age.

It is called a "spectrum" because it encompasses a

wide range of symptoms and severity levels, and
no two individuals with ASD are exactly alike.
 Etiopathogenesis
• Not clear.
• Abnormalities in neural connectivity, dendritic
and synaptic morphology and functioning of
mirror neurons.
• Genetic causes : fragile X chromosome,
tuberous sclerosis, Angelman syndrome &
metabolic diseases like phenylketonuria and
hypothyroidism.
According to Diagnostic and Statistical Manual
of Mental Disorders (DSM) V, a child is labeled
as having ASD when he/she fulfills a minimum
number of symptoms in two domains.

1. Social interaction and communication

2. Behavior
It's important to remember that every person with
ASD is an individual with their unique experiences
and abilities.

Autism acceptance and understanding play crucial

roles in creating an inclusive and supportive
environment for individuals with ASD to thrive and
reach their full potential.
Asperger's syndrome
Hans Asperger
Asperger’s syndrome is a neurobiological
disorder that impairs social interactions,
and restricts intrests and activities but
little or no impairment in language, cognitive,
self-help skills or adaptive behavior.
 Etiopathogenesis
• Etiology is not clear but leading theory
points to genetic causes.
• Tends to run in families.
• More common in males than females
(8:1).
• Not caused by bad parenting or by
emotional deprivation.
 Characterized by
• poor peer relationships.
• lack of empathy.
• cannot read body language.
• marked delay in non-verbal communication.
• tendency to be overfocused on certain topics.
• inflexibilty or rigidity.
• pedantic speech.
• sensitive to loud sounds, lights and odors.
• strict adherence to routines and rituals.
• limited range of intrest.
• reptitious motor movements or sequences,
called as motor clumsiness.
• no clinically significant language delay.
• average to above-average intelligence.
• no significant delays in areas of cognitive
development of age-appropriate self-help skills,
adaptive behavior, and curiosity about the
environment.
 Diagnostic criteria
• DSM-5
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.
2. Deficits in nonverbal communicative behaviors used for
social interaction.
3. Deficits in developing, maintaining, and understanding
relationships.
• B. Restricted, repetitive patterns of behavior, interests, or
activities, as manifested by at least 2 of the following,
currently or by history:
1. Stereotyped or repetitive motor movements, use of
objects, or speech.
2. Insistence on sameness, inflexible adherence to
routines, or ritualized patterns of verbal or nonverbal
behavior.
3. Highly restricted, fixated interests that are abnormal in
intensity or focus.
4. Hyper- or hyporeactivity to sensory input or unusual
interest in sensory aspects of the environment.
• C. Symptoms must be present in the early
developmental period (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.
Diagnosis & Management
• complete medical review, family history, and
physical examination. (include vision and
hearing assessment and neurologic evauation to
rule out other disorders)
• genetic evaluation and counseling to identify the
presence of recurrence risks.
• psychological testing to determine the exact
nature of cogntive and perceptual dysfunctions.
• behavioral and social assessment.
• assessment of academic performance.
• MRI and other testing to determine underlying
neurologic abnormality if appropriate.
• occupational and physical therapy, speech and
language evaluations as necessary.
• school evaluation- school psychologists will
obtain IQ testing and achievement testing.
Rett Syndrome
• Rett syndrome is a degenerative disease but is
a disorder of early brain development marked by
a period of developmental regression and
deceleration of brain growth after a relatively
normal neonatal course.
• It is an X-linked disease that occurs
predominantly in females.
• The frequency is approximately 1 in 15,000-
22,000 children.
CAUSE ???
• Rett syndrome is caused by mutations in the
MeCP2 gene on Xq28, which codes for a
transcription factor that binds to methylated CpG
islands and silences transcription.
• Mutations in MeCP2 have been demonstrated in
normal female carriers, females with Angelman
syndrome, and males with fatal encephalopathy,
Klinefelter (47 XXY) syndrome, and familial X-
linked cognitive impairment.
• Males may present with a Rett-like syndrome if
they have an MECP2 duplication.
 Clinical features
• Development may proceed normally until 1 yr of age,
when regression of language and motor milestones and
acquired microcephaly become apparent.
• An ataxic gait or fine tremor of hand movements is
an early neurologic finding. Most children develop
peculiar sighing respirations with intermittent periods of
apnea that may be associated with cyanosis.
• The hallmark of Rett syndrome is repetitive handwringing
movements and a loss of purposeful and spontaneous
use of the hands; these features may not appear until 2-
3 yr of age.
• Autistic behavior is a typical finding in all patients.
• Generalized tonic-clonic convulsions occur in the
majority but may be well controlled by anticonvulsants.
• Feeding disorders and poor weight gain are common.
• After the initial period of neurologic regression, the
disease process appears to plateau, with persistence of
the autistic behavior.
• Cardiac arrhythmias may result in sudden, unexpected
death at a rate that is higher than the general population.
• Generally, females survive into adulthood.
• Postmortem studies show significantly reduced brain
weight (60–80% of normal) with a decrease in the
number of synapses, associated with a decrease in
dendritic length and branching.
 Stage 1
• early onset.
• starts between 6 and 18 months of age.
• can last for a few months or a year.
• babies show less eye contact and start to
lose interest in toys.
• they may also have delays in sitting or
crawling.
 Stage 2
• rapid destruction.
• starts between 1 and 4years of age.
• children lose the ability to perform skills they
had earlier.
• symptoms such as slowed head growth,
abnormal hand movements, hyperventilation,
screaming or crying, problems with movement
and coordination, and a loss of social interaction
and communication occurs.
 Stage 3
• plateau stage.
• starts between 2 years and 10 years.
• lasts upto many years.
• problems with movement continue, behavior
may have limited improvement, with less crying
and irritability, and some improvement inhand
use and communication.
• seizures may begin.
 Stage 4
• late motor deterioration.
• begins after the age of 10 years.
• marked by reduced mobility, muscle
weakness, joint contracture and scoliosis.
• understanding, communication and hand
skills generally remain stable or improve
slightly, and seizures may ocuur less often.
 Diagnosis
• physical examination and detailed
information about the child’s development
and medical history.
• genetic DNA blood test to support
diagnosis.
• CT scan, MRI scan.
• electroencephalograms.
Criteria for diagnosis

Essential Supportive

Exclusion
 Essential criteria
• a period of normal development until between 6
to 18 months followed by a loss of skills, then
recovery or stabilization of skills.
• partial or complete loss of purposefull hand
skills.
• partial or complete loss of spoken language.
• dyspraxic gait.
 Supportive criteria
• breathing irregularities while awake, such as
apnea, hyperventilation and air swallowing.
• teeth-grinding.
• abnormal sleep patterns.
• abnormal muscle tone such as rigidity, spasticity
or hypotonia.
• scoliosis or kyphosis
• intense eye communication or “eye pointing”
• poor circulation in hands nd feet, with cold and
bluish to red hands and feet.
• delayed growth
• small hands and feet
• screaming spells or inappropriate laughing.
• reduced response to pain
 Exclusion criteria
• a neurometabolic disease or other inherited
degenerative disorder.
• a neurological disorder resulting from severe
infection or head trauma.
• evidence of brain damage acquired after birth.
• grossly abnormal development in the first six
months of life.
 Treatment
• no currently targeted treatment or gene therapy.
• SUPPORTIVE CARE:
1. physical therapy
2. occupational therapy
3. speech-language therapy
4. nutritional support
5. behavioral intervention
6. support services
7. medications like bromocriptine improves
relaxation and communication skills.
Thank You