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Autism
By
Tagreed
content
introduction
Previous studies
Relative between autism and cognitive
Causes of Autism
1- the major brain regions
2-Neurotransmitters
3- Genetic causes
Autism’s symptoms
Autism’s therapy
introduction
Autism spectrum disorder (ASD) has diverse
clinical manifestations, behavioral phenotypes, and
developmental dimensions.
The range of autism severity in the three main
domains.
social
communication
stereotyped behaviors is extensive.
Previous studies
Relative between autism and cognitive
cognitive level varies widely among individuals
with autism. Cognition, symptom severity, and
biological variables are thought to be the basis for
subtyping in autism (Bolton et al., 1994; Fein et al.,
1999).
Reports showed 70% with IQ below 70 (e.g.
Bryson, Clark, & Smith, 1988)
A recent analysis of cognitive level in autism
found correlations between overall cognitive
level and social communicative functioning in
preschool age children (Joseph, TagerFlusberg, & Lord, 2002).
Discrepantly higher nonverbal abilities
demonstrated significantly greater impairment in
social functioning in school age but not in
preschool-age children with autism (Joseph et al.,
2002).
Higher IQ measures, especially at older ages, were
predictive of better progress in language, adaptive
skills,
and school placement (Ben Itzchak & Zachor, 2006;
Gillberg)
All patients with the diagnosis of autism should
have a hearing evaluation before proceeding with
any other evaluation.
The medical literature is replete with persons with
hearing loss mistakenly diagnoses as having autism.
In addition to a hearing evaluation all children with
impairment in their communication skills should
undergo cognitive evaluation.
an electroencephalogram may be performed for
patients in whom the suspicion of an epileptic form
disorder is a concern.
Causes of Autism
1- the major brain regions
scientists have only recently been able to study the brain systematically.
computerized tomography (CT)
Computed tomography is a specialized form of X-ray, resulting in
cross-sectional computerized images and occasionally 3Dimensional
images of your head.
positron emission tomography (PET)
technique which produces a three-dimensional image or map of
functional processes in the body.
magnetic resonance imaging (MRI),
A MRI scanner consists of a large and very strong magnet in which the patient lies. A
radio wave antenna is used to send signals* to the body and then receive signals back.
These returning signals are converted into pictures by a computer attached to the
.scanner.
single photon emission computed tomography (SPECT)
Various radioactive pharmaceuticals are injected into the blood and attach to
targets in the brain’s gray matter for several hours. This allows researchers to
image up to several hours after injection, yet study activity at the time of
injection.
The major brain regions that form the putative neural systems involved
in the functions that are most impacted by the core features of autism.
Several brain regions have been implicated in social behavior through
experimental animal studies
This includes
the cerebellum,
cerebral cortex
corpus callosum,
basal ganglia,
and brain stem.
Language function is distributed throughout several cortical and
subcortical regions
Fore most for expressive language function is Broca’s area in the
inferior frontal gyrus and portions of the supplementary motor cortex.
Wernicke’s area is essential for receptive language function,
the superior temporal sulcus plays a role in both language processing
and social attention .
the repetitive or stereotyped behaviors of autism share many similarities with the
abnormal actions of obsessive-compulsive disorder that implicate regions such as the
orbitofrontal cortex.
2-Neurotransmitters
Other research is focusing on the role of
neurotransmitters such as serotonin and dopamine.
3- Genetic causes
Many sciences have been suggested for this complex
syndrome. Though it is associated with a high degree
of heritability, specific genes have yet to be associated
with autism
Genetic causes
chromosome 15
x chromosome
chromosome 2
1-Autism on chromosome 2
Sean Ennis is one of four research scientists that
form the Irish Autism Genetics Collaboration
(IAGC). Along with Professor Andrew Green,
Sean’s collaborators include Professor Michael Gill
and Dr Louise Gallagher of Trinity College Dublin
(TCD).
Their research has provided evidence to support the role of Integrin Alpha 4 (ITGA4) as
a candidate gene for autism.
The US based National Alliance for Autism Research (NAAR) established a partnership
with the four National Institutes of Health (NIH)
The first phase of the project involved a genome scan, which highlighted several
regions of interest.
focus on following up on regions of interest within the genome identified in phase I, by
fine mapping linkage regions
The discovery of ITGA4 involvement in autism was achieved using both
breakpoint analysis for a candidate region for autism on chromosome 2q31-q32
and further SNP analysis.
ITGA4 is involved in cell-adhesion and is expressed in the limbic brain,
a region thought to be involved in the pathological process of autism.
Ennis said, “While we have known for some time that the chromosome
2q region is involved (in autism) and other studies have confirmed this,
the association of ITGA4 was an interesting and surprising finding.”
2-Autism on x chromosome
The X chromosome contains 1,098 genes, while the Y chromosome
contains only 78.
One consequence is that boys have a higher incidence of mental
retardation than girls. (Joseph, Dr Ian Jackson , 2002).
3-Autism on chromosome 15
Isodicentric chromosome 15 is the scientific name for a specific type of
chromosome abnormality.
Individuals with isodicentric chromosome 15, or "idic(15)", have 47
chromosomes instead of the typical 46 chromosomes.
Most commonly, the region called 15q11-q13 is the portion of
chromosome 15 duplicated.
duplications of Chromosome 15
diagnosed
The diagnosis of idic(15) is made through a blood test called a
chromosome study, with FISH (Fluorescence In Situ Hybridization)
confirming the diagnosis, by distinguishing idic(15) from other
supernumerary marker chromosomes.
No pointing by one year.
No babbling by one year; no single words by 16
months.
no two-word phrases by 24 months
Any loss of language skills at any time
No pretend playing
Little interest in making friends
Extremely short attention span
No response when called by name; indifference to others
Little or no eye contact
repetative body movements, such as hand flapping, rocking
Intense tantrums
Fixations on a single object, such as a spinning fan
Autism’s therapy
The first goal of therapy should be to improve functional
communication
The purpose of speech-language therapy is to enhance
intentional communication through the shared expression of
ideas and desires, sharing information and interpersonal
interaction.
increases social and communication skills
increases attention span and ability to stay
focused on a task.
decreases autistic child's level of self-stimulation
encourages children to learn with tactile,
colorful art materials
Floor time
Floor time involves engaging a child at his or her current
level of functioning, working with the unique features of the
child’s nervous system, and utilizing intensive interactive
experiences to enable him or her to master new capacities,
especially in the areas of communication and social
relatedness. (Dr. Stanley Greenspan , The Child with Special
Needs , 2004).
Ummm….
This is not cancer
This is not AIDS
This is not a crisis
OUR child gives us
joy that words could
never fully express
Thank u…