Autism Spectrum Disorder: Dr. Pragasam Viswanathan Professor, SBST

Autism Spectrum Disorder
Dr. Pragasam Viswanathan

Professor, SBST
It refers to a group of complex
neurodevelopment disorders characterized by
repetitive and characteristic patterns of
behavior and difficulties with social
communication and interaction.
The symptoms are present from early

childhood and affect daily functioning.
The term “spectrum” refers to the wide range of
symptoms, skills, and levels of disability in
functioning that can occur in people with ASD.
Some children and adults with ASD are fully able to

perform all activities of daily living while others
require substantial support to perform basic
activities.
It occurs in every racial and ethnic group, and

across all socioeconomic levels.
However, boys are significantly more likely to

develop ASD than girls.
What is autism spectrum disorder?
ASD is a complex group of neurodevelopmental disorders
Core features are:
Communication
impairments
Repetitive
Social and behaviors
behavioral and/or restricted
challenges interests
What are some common signs of ASD?
Even as infants, children with ASD may seem different,
especially when compared to other children their own
age.
They may become overly focused on certain objects,
rarely make eye contact, and fail to engage in typical
babbling with their parents.
In other cases, children may develop normally until the
second or even third year of life, but then start to
withdraw and become indifferent to social engagement.
The severity of ASD can vary greatly and is based on the
degree to which social communication, insistence of
sameness of activities and surroundings, and repetitive
patterns of behavior affect the daily functioning of the
individual.
Is autism spectrum disorder genetic?
Genetically influenced disorder, caused by factors including:
Genetic Epigenetic Non-genetic

environmental exposures
factors that affect gene expression and activity
~15-40% of individuals with ASD will have an identifiable genetic cause

15-40%, known genetic 60%, no known genetic
etiology etiology
What disorders are related to ASD?
Certain known genetic disorders are associated with an
increased risk for autism, including Fragile X syndrome
(which causes intellectual disability) and tuberous
sclerosis (which causes benign tumors to grow in the
brain and other vital organs) — each of which results
from a mutation in a single, but different, gene.
Recently, researchers have discovered other genetic

mutations in children diagnosed with autism, including
some that have not yet been designated as named
syndromes. While each of these disorders is rare, in
aggregate, they may account for 20 percent or more of all
autism cases.
People with ASD also have a higher than
average risk of having epilepsy.
Children whose language skills regress early
in life — before age 3 — appear to have a risk
of developing epilepsy or seizure-like brain
activity.
About 20 to 30 percent of children with ASD
develop epilepsy by the time they reach
adulthood.
Additionally, people with both ASD and
intellectual disability have the greatest risk of
developing seizure disorder.
How is ASD diagnosed?
ASD symptoms can vary greatly from person to person
depending on the severity of the disorder.
Very early indicators that require evaluation by an
expert include:
• no babbling or pointing by age 1
• no single words by age 16 months or two-word
phrases by age 2
• no response to name
• loss of language or social skills previously acquired
• poor eye contact
• excessive lining up of toys or objects
• no smiling or social responsiveness
What causes ASD?
Scientists believe that both genetics and
environment likely play a role in ASD.
There is great concern that rates of autism have
been increasing in recent decades without full
explanation as to why.
Researchers have identified a number of genes
associated with the disorder.
Imaging studies of people with ASD have
found differences in the development of
several regions of the brain.
Studies suggest that ASD could be a result of
disruptions in normal brain growth very early
in development.
These disruptions may be the result of defects
in genes that control brain development and
regulate how brain cells communicate with
each other.
Autism is more common in children born
prematurely. Environmental factors may also
play a role in gene function and development,
but no specific environmental causes have yet
been identified.
What role do genes play?
Twin and family studies strongly suggest that some

people have a genetic predisposition to autism.
Identical twin studies show that if one twin is affected,
then the other will be affected between 36 to 95
percent of the time.
There are a number of studies in progress to

determine the specific genetic factors associated with
the development of ASD.
In families with one child with ASD, the risk of having

a second child with the disorder also increases.
Many of the genes found to be associated with autism
are involved in the function of the chemical
connections between brain neurons (synapses).
Researchers are looking for clues about which genes

contribute to increased susceptibility. In some cases,
parents and other relatives of a child with ASD show
mild impairments in social communication skills or
engage in repetitive behaviors.
Evidence also suggests that emotional disorders such

as bipolar disorder and schizophrenia occur more
frequently than average in the families of people with
ASD.
In addition to genetic variations that are inherited
and are present in nearly all of a person’s cells, recent
research has also shown that de novo, or
spontaneous, gene mutations can influence the risk of
developing autism spectrum disorder.
De novo mutations are changes in sequences of

DNA, which can occur spontaneously in a parent’s
sperm or egg cell or during fertilization.
The mutation then occurs in each cell as the fertilized
egg divides.
These mutations may affect single genes or they may be

changes called copy number variations - DNA
containing multiple genes are deleted or duplicated.
Recent studies have shown that people with ASD tend

to have more copy number de novo gene mutations
than those without the disorder, suggesting that for
some the risk of developing ASD is not the result of
mutations in individual genes but rather spontaneous
coding mutations across many genes.
De novo mutations may explain genetic disorders in
which an affected child has the mutation in each cell
but the parents do not and there is no family pattern
to the disorder.
Autism risk also increases in children born to older

parents.
There is still much research to be done to determine

the potential role of environmental factors on
spontaneous mutations and how that influences
ASD risk.
How is autism treated?
There is no cure for ASD. Therapies and behavioral

interventions are designed to remedy specific
symptoms and can substantially improve those
symptoms.
The ideal treatment plan coordinates therapies and

interventions that meet the specific needs of the
individual.
Most health care professionals agree that the earlier

the intervention, the better.
First tier genetic testing for
autism spectrum disorder
1. Chromosomal microarray
Chromosomal microarray for ASD may be ordered by
primary care providers.
2. Fragile X syndrome testing

What is chromosomal microarray?
Genomic technology to assess for small extra (micro-duplication) or
missing (micro-deletion) pieces of genetic information
These gains and losses are called copy number variants (CNVs)
Higher resolution genetic test than karyotype
Karyotype Yield for individuals with ASD is~7-14%
Finucane 2016 Curr Genet Med Rep
Microarray
Deletion/duplication
analyses
Sequencing
Where do I find more information?
www.geneticseducation.ca
Check with your local
genetics clinic about how
testing may be organized
Thank U!!!

Autism Spectrum Disorder: Dr. Pragasam Viswanathan Professor, SBST

Uploaded by

Copyright:

Available Formats

Autism Spectrum Disorder: Dr. Pragasam Viswanathan Professor, SBST

Uploaded by

Document Information

Original Description:

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Autism Spectrum Disorder: Dr. Pragasam Viswanathan Professor, SBST

Uploaded by

Copyright:

Available Formats

Autism Spectrum Disorder

Dr. Pragasam Viswanathan

The symptoms are present from early

Some children and adults with ASD are fully able to

It occurs in every racial and ethnic group, and

However, boys are significantly more likely to

Core features are:

Genetic Epigenetic Non-genetic

factors that affect gene expression and activity

~15-40% of individuals with ASD will have an identifiable genetic cause

Recently, researchers have discovered other genetic

Twin and family studies strongly suggest that some

There are a number of studies in progress to

In families with one child with ASD, the risk of having

Researchers are looking for clues about which genes

Evidence also suggests that emotional disorders such

De novo mutations are changes in sequences of

These mutations may affect single genes or they may be

Recent studies have shown that people with ASD tend

Autism risk also increases in children born to older

There is still much research to be done to determine

There is no cure for ASD. Therapies and behavioral

The ideal treatment plan coordinates therapies and

Most health care professionals agree that the earlier

2. Fragile X syndrome testing

You might also like