Angelman Angelman SyndromeSyndromeAlso known as the,Also known as the,

“ “Happy Puppet Syndrome”Happy Puppet Syndrome”

It’s a genetic disorder It’s a genetic disorder

that causes developmental that causes developmental delay and neurological delay and neurological problems.problems.

Physician Harry Physician Harry Angelman, in 1965Angelman, in 1965

How does it happen?

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).

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

ComplicationsComplications

- Jerky MovementsJerky Movements- Protruding Protruding

tonguestongues- Mental Mental

retardationretardation- Balance ProblemsBalance Problems- Large JawsLarge Jaws

How is it Cured?

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.

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

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

OrganizationsOrganizations

Angelman Syndrome Angelman Syndrome FoundationFoundation

International International Angelman Syndrome Angelman Syndrome OrganizationOrganization

Prader-Willi Prader-Willi Syndrome Syndrome AssociationAssociation

Angelman Syndrome, “Awareness Day”

Works CitedWorks Cited http://www.medicinenet.com/angleman_Syndrome.

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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