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Transcript of angelmansyndrome
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Angelman Angelman SyndromeSyndromeAlso known as the,Also known as the,
“ “Happy Puppet Syndrome”Happy Puppet Syndrome”
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It’s a genetic disorder It’s a genetic disorder
that causes developmental that causes developmental delay and neurological delay and neurological problems.problems.
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Physician Harry Physician Harry Angelman, in 1965Angelman, in 1965
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How does it happen?
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Chromosome 15Chromosome 15
- happens from the - happens from the absence or absence or deletion of a deletion of a particular genes particular genes that regulate a that regulate a protein called, protein called, UBE3A on UBE3A on chromosome,15q11chromosome,15q11-13 (usually from -13 (usually from the maternal side the maternal side chromosome).chromosome).
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Symptoms Symptoms Feeding Problems Feeding Problems
first month at birth.first month at birth. Seizures begin 2-3 Seizures begin 2-3
years of age.years of age. Blond hair and pale Blond hair and pale
blue eyesblue eyes Frequent laughter Frequent laughter
and smilingand smiling Always happyAlways happy absent speechabsent speech large mouth and large mouth and
tongue protrusiontongue protrusion
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ComplicationsComplications
- Jerky MovementsJerky Movements- Protruding Protruding
tonguestongues- Mental Mental
retardationretardation- Balance ProblemsBalance Problems- Large JawsLarge Jaws
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How is it Cured?
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As of right now…As of right now…
-This is -This is nono known cure known cure But, early diagnosis But, early diagnosis
and therapies such as:and therapies such as: Medical Therapy Medical Therapy
(Seizures)(Seizures) PhysicalPhysical OccupationOccupation CommunicationCommunication And behavioral And behavioral May help improve May help improve
affected victims affected victims quality of life.quality of life.
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Facts:Facts: It’s a rare diseaseIt’s a rare disease People affected People affected
have normal life have normal life spansspans
Don’t show Don’t show developmental developmental regression as they regression as they ageage
They appear They appear normal at birthnormal at birth
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Incident rates Incident rates
My occur in ethnic My occur in ethnic back rounds, 70-back rounds, 70-75% are born with 75% are born with the disease. With the disease. With no family history of no family history of the disorder.the disorder.
1 out 10,000 1 out 10,000 individuals have individuals have Angelman Angelman SyndromeSyndrome
Family history of disorder
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OrganizationsOrganizations
Angelman Syndrome Angelman Syndrome FoundationFoundation
International International Angelman Syndrome Angelman Syndrome OrganizationOrganization
Prader-Willi Prader-Willi Syndrome Syndrome AssociationAssociation
Angelman Syndrome, “Awareness Day”
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Works CitedWorks Cited http://www.medicinenet.com/angleman_Syndrome.
article.htm
http://www.healthline.com/galecontent/angelmans-http://www.healthline.com/galecontent/angelmans-syndromesyndrome
http://rarediseases.about.com/od/rarediseasesa/a/http://rarediseases.about.com/od/rarediseasesa/a/angelman05.htmangelman05.htm
http://www.ninds.nih.gov/disorders/angelman/http://www.ninds.nih.gov/disorders/angelman/org_angelman.htmorg_angelman.htm
http://www.highbeam.com/doc/1P2-13168819.htmlhttp://www.highbeam.com/doc/1P2-13168819.html http://www.wrongdiagnosis.com/a/http://www.wrongdiagnosis.com/a/
angelman_syndrome/symptoms.htm angelman_syndrome/symptoms.htm