Transcript Autism PPT

AUTISM
By: Mark Alspaugh, Sophia Parsons, Olivia Vasques, Megan Gunther
Autism -(Awe tiz um)
Alternate names: Classic Autism, and Autistic Disorder
How it was discovered: It was used in the early 1900’s to describe a distinguished
order from schizophrenia.
When: Early 1900’s
Where: America/Switzerland
Who: Eugen Bleuler and Leo Kanner
How: In 1911 Leo Kanner, a Swiss psychiatrist coined in the term Autism to
describe withdrawal into one’s inner world , a phenomenon he observed in
individuals with schizophrenia.
-In 1943 Leo Kanner, an Austrian-born American psychiatrist distinguished the
disorder from schizophrenia. The use of the word Autism to describe the condition
as it is known today originated in that year because of Leo Kanner.
Cite: Blatt,Gene.”Autism.” Britannica.web.2,Feb.16.
Autistic Spectrum Disorder
Autistic Spectrum Disorder is inherited not by
parent to child but arise spontaneously. While these
mutations help explain how ASD develops information
of causes, they don’t help us understand why autism
so often runs in families. Doctors diagnose ASD by
looking at a child’s behavior and development.
This diagram shows the causes of autism and how likely something caused
the disease. The graph shows that most cases of Autism are caused by
reasons unknown or multiple things cause it.
https://nagenomics.wordpress.com/author/nagenomics/
ASD occurs in all racial, ethnic, and socioeconomic groups, but is almost five
times more common among boys than among girls. ASD tends to occur more
often in people who have certain genetic or chromosomal conditions, such as
fragile X syndrome or tuberous sclerosis. However, these specific conditions can
only explain a small number of ASD cases.
Symptoms of Disorder
•No smiles or any warm joyful expressions by six months or more
•No back and forth sharing of sounds, smiles or other facial expressions
•Hard to communicate with others
•Stereotypical behavior
•Playing with toys in an unusual or repetitive way
• Avoid eye contact
•Have unusual reactions to the 5 senses
Effects of Autism
• Difficulty understanding what is happening around them: Can create insecurity
and anxiety on a daily basis which is often expressed through various stress
reducing behaviors: Rocking, tantrums, punching and others.
• Often experiences failing work and social situations and at school: This is because
of their lack of understanding, and this can cause mental problems like
depression and high anxiety.
• People with autism are more vulnerable : “Friends”may bully and/or takes
advantage of the autistic person.
Diagnosis
•There is no medical tests to diagnosis autism
•Specially trained physicians and psychologist have behavioral evaluations
•Parents usually detect it first because they don’t make eye contact, not
responding to his or her name or playing with toys in a weird and repetitive ways.
•Parents can take a list of questions that can determine if their child needs
further evaluation by a professional
https://www.autismspeaks.org/what-autism/diagnosis
Prognosis
• Most autistic people live from 18-21
•Limitations they may face are….
•Uneven set of skills
•Difficulty developing motivation to study areas not of interest
•Difficulty perceiving emotional states or other
•Difficulty telling the truth
•Difficult expressing empathy
•Difficulty in screening out background noise
FRAGILE X SYNDROME – ONE
GENETIC CAUSE FOR ASD
• Fragile X syndrome (FXS) is a genetic disorder. A genetic disorder means that there are changes to
the person’s genes.
o FXS is caused by changes in the fragile X mental retardation 1 (FMR1) gene, located on the X
chromosome.
o The FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP).
o FMRP is needed for normal brain development. People who have FXS do not make this protein.
o FXS can be diagnosed by testing a person's DNA from a blood test.
• There is no cure for FXS. However, treatment services can help people learn important skills.
• The exact number of people who have FXS is unknown, but it has been estimated that about 1 in
4,000-5,000 males are born with the disorder. Therefore, FXS could explain a few but not all cases
of ASD.
• Source: http://www.cdc.gov/ncbddd/fxs/facts.html
• Source: https://www.genome.gov/19518828
• The FMR1 gene tells the cell how to make a specific protein (FMRP) that is essential for
normal brain development.
• The FMR1 gene begins with triplet repeating groups of the nucleotides CGG (C = Cytosine;
G = Guanine).
o In most people, there are 6-44 repeats
o In other people, there are 45-200 repeats
o Fragile X syndrome occurs when there are more than 200 repeats; when this many CGG
repeats occur (a full mutation), the FMR1 gene turns off and does not produce FMRP. This is the
cause of 95% of the cases of Fragile X syndrome.
o A specific genetic test (polymerase chain reaction [PCR]) can be performed to diagnose fragile
X syndrome.
o Both boys and girls can be affected, but because boys have only one X chromosome, a single
fragile X is likely to affect them more severely.
• Source (video): http://www.cdc.gov/ncbddd/fxs/video/fragilex-4.html
• Source: https://www.genome.gov/19518828
PICTURE OF MALE FRAGILE X
CHROMOSOME
Fragile X syndrome(highlighted) is the most common form of mental
retardation. The X chromosome of some people is unusually fragile at
one tip - seen "hanging by a thread" under a microscope. This can be a
cause of few cases of autism but it doesn’t account for most of them.
This is only one specific cause out of many. Falls in the red section of
the diagram from the earlier slide.
Source:
http://www.biology.iupui.edu/biocourses/N100/2k2humancsomaldisor
ders.html
http://www.tsalliance.org/pages.aspx?content=117
• http://www.tsalliance.org/pages.aspx?content=2
• http://www.ncbi.nlm.nih.gov/pubmed/15121991
• http://www.autism.org.uk/professionals/health-workers/screening/genetics.aspx
TREATMENT AND MANAGEMENT
• There is no cure for autism but early action in an autistic child’s life can help with
future social interaction. Autism can be located in a child that is 2 years old by an
experienced professional which can be considered very reliable. Early intervention
should give the child a strong and stable environment so the child can develop
better. For example, in some cases coping mechanisms are taught to keep temper
in check.
• http://www.cdc.gov/ncbddd/autism/facts.html
SIGNS AND SYMPTOMS OF ASD
• People with ASD often have problems with social, emotional, and communication skills.
• Signs of ASD begin during early childhood and typically last throughout a person’s life.
• Children or adults with ASD might:
o
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o
o
o
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not point at objects to show interest (for example, not point at an airplane flying over)
not look at objects when another person points at them
avoid eye contact and want to be alone
be very interested in people, but not know how to talk, play, or relate to them
repeat actions, or echo words and phrases over and over again
have unusual reactions to the way things smell, taste, look, feel, or sound
• Source: http://www.cdc.gov/ncbddd/autism/facts.html
FACTS ABOUT ASD
• People with ASD often do not look any different than people
without ASD.
• People with ASD behave, interact, communicate and learn
differently than people without ASD.
• The learning and problem-solving abilities of people with ASD
can range from gifted to severely challenged.
• Some people with ASD need a lot of help in their daily lives;
others need less.
• CDC estimates that about 1 in 68 children has been identified
with autism spectrum disorder (ASD).
• Source: http://www.cdc.gov/ncbddd/autism/facts.html
Tim Burton
Tim Burton is known to be autistic. Tim and his wife were watching a movie about
autism and he said that was how he felt when he was a child. His wife said, “You
can say something to him while he’s working, and he wouldn’t hear you”. She also
says “that quality makes him a fantastic father”. He sees things other people can’t
see.