Angelman Syndrome
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What is Angelman Syndrome?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat is Angelman Syndrome?
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman
first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements,
protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding
problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between
2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often
display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional
deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
Is there any treatment?
There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational
therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to
reach their maximum developmental potential.
What is the prognosis?
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties.
However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression
as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
What research is being done?
The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose,
treat, prevent, and ultimately cure them.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
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Last updated February 08, 2007
