Angelman Syndrome

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.

Organizations

Angelman Syndrome Foundation
4255 Westbrook Drive
Suite 219
Aurora, IL   60504
info@angelman.org
Tel: 630-978-4245 800-432-6435
Fax: 630-978-7408
The Arc of the United States
1010 Wayne Avenue
Suite 650
Silver Spring, MD   20910
Info@thearc.org
Tel: 301-565-3842 800-433-5255
Fax: 301-565-3843 or -5342
Prader-Willi Syndrome Association
8588 Potter Park Drive
Suite 500
Sarasota, FL   34238
national@pwsausa.org
Tel: 941-312-0400 800-926-4797
Fax: 941-312-0142

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health

from: NIH –  Last updated February 08, 2007 (www.nih.org)

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by 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.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.


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