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Fact Sheet: Angelman Syndrome - November 6, 2009

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NINDS Angelman Syndrome Information Page

By: National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS)

Reprinted with the express permission of National Institute of Neurological Disorders and Stroke as originally published on their website

What 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.

Featured Organization: National Institute of Neurological Disorders and Stroke

Our thanks to NINDS for providing this valuable information.

The mission of NINDS is to reduce the burden of neurological disease, a burden borne by every age group, by every segment of society, by people all over the world.

To support this mission, NINDS:
  • Conducts, fosters, coordinates, and guides research on the causes, prevention, diagnosis, and treatment of neurological disorders and stroke, and supports basic research in related scientific areas.
  • Provides grants-in-aid to public and private institutions and individuals in fields related to its areas of interest, including research project, program project, and research center grants.
  • Operates a program of contracts for the funding of research and research support efforts in selected areas of institute need.
  • Provides individual and institutional fellowships to increase scientific expertise in neurological fields.
  • Conducts a diversified program of intramural and collaborative research in its own laboratories, branches, and clinics.
  • Collects and disseminates research information related to neurological disorders.

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