Angelman Syndrome: Kelsey Blackburn

Post on 17-Jun-2015

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By Kelsey Blackburn

“A genetic disorder that causes developmental delay and neurological problems.”

http://www.medicinenet.com/angelman_syndrome/article.htm

It was first described in 1965 by Dr. Harry Angelman

Small head size

Hyperactivity

Seizures

Sleep and balance disorders

Frequent laughter and smiling

Speech impairment

Uplifted flexed arms

Sensitivity to heat

Babies appear to be normal at birth, but they have noticeable developmental

delays when they are 6-12 months old

Seizures occur between 2-3 years of age

By the age of 3, kids will have noticeable balance problems, speech impairment, and frequent laughter

People that have Angelman have a deleted area in chromosome 15.

The person has Angelman because there is an absence of a functional copy of a gene called

UBE3A that is inherited from their mother.

It is also possible to get Angelman if a baby inherits both chromosomes 15. This is called

paternal uniparental disomy or UPD.  

There is no treatment for the Angelman Syndrome, although

there are many types of therapy that can help control

the symptoms like…..

Medical therapy for seizures

Physical therapyBehavioral therapy

Communication therapy

It is found among all racial groups

An exact count of how many people have it is unknown, but

we can estimate there are around1,000 cases in the U.S.

and Canada

http://www.medicinenet.com/angelman_syndrome/article.htm

http://www.geneclinics.org/profiles/angelman/details.html

http://www.hmc.psu.edu/childrens/healthinfo/a/angelman.htm

http://ghr.nlm.nih.gov/condition=angelmansyndrome

http://www.mayoclinic.com/health/angelman-syndrome/DS01048/DSECTION=causes

http://www.specialchild.com/archives/dz-001.html

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