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
3015 E. New York Street Suite A2265
Aurora, IL 60504
info@angelman.org
http://www.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
http://www.thearc.org
Tel: 301-565-3842
Fax: 301-565-3843 or -5342
SOURCE: National Institute of Neurological Disorders and Stroke
Last Editorial Review: 10/16/2007
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