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Angelman Syndrome

What is Angelman syndrome?

Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. Angelman syndrome is thought to occur in about 1 in 15,000 births.  The United States and Canada have an estimated 5,000-10,000 individuals living with Angelman syndrome. 

What causes Angelman syndrome?

Individuals with Angelman syndrome usually are missing a gene on the 15th chromosome called UBE3A.  Sometimes UBE3A is present, but is functioning abnormally.  

What are the effects of Angelman syndrome?

Angelman syndrome is difficult to detect at birth. Between the ages of 6 and 12 months, developmental delays may become apparent. All individuals with Angelman syndrome have difficulty with speech and movement.  Most have abnormal brain activity, seizures, and microcephaly (the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing).

Many individuals with Angelman syndrome have abnormal feeding, fair skin, a wide smile, strabismus (a condition where the eyes do not look toward the same object together), and difficulty sleeping through the night.  Many walk with a wide puppet- like gait and their arms outstretched. Recent research shows that about half of individuals with Angelman syndrome also will show signs of autism spectrum disorder.

Outbursts of laughter are frequent among individuals with Angelman syndrome. Happiness seems to be a constant state, and social smiling may be prevalent. Many individuals are very social and have excellent memories for faces and places. 

Physical and Developmental Features of AS

•  Facial features may include a wide, smiling mouth, thin upper lip, prominent chin, and deep set eyes.

•  Below average head size.

•  Jerky body movements.

•  Delayed motor development, including delay in sitting and walking.

•  Fair hair and blue eyes.

•  Speech delays.

•  Mental retardation.

•  Severe learning disabilities.

•  Poor feeding problems, including difficulties sucking and limited weight gain. 

Can Angelman syndrome be treated?

Early diagnosis and early intervention is the best treatment.  Most individuals with Angelman syndrome make steady developmental progress and do not regress.

Those who experience seizures usually need medical care.  Physical, occupational, speech, and behavioral therapies contribute to improving the quality of life. Water play seems to be especially appealing to most individuals with Angelman syndrome, so swim therapy is often a favorite option. Another option may be hippotherapy, a therapeutic approach that uses horses instead of typical physical therapy equipment.

It is unlikely that individuals with Angelman syndrome will live independently, but encouraging independence as much as possible is beneficial. Individuals with Angelman syndrome learn best through repetition and structure.  Plan well and make learning a game. 

 

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