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The
following material is quoted from information found at the website for the Angelman Syndrome Foundation, Inc., www.angelman.org.
A link to this site is found below, as well as on the "Web Links" page.
"Angelman Syndrome has confounded
and confused the medical community and parents of Angelman individuals for hundreds of years. Initially presumed to be rare,
it’s now believed thousands of Angelman Syndrome cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism
or other childhood disorders.
The first glimmer of hope for diagnosis, and ultimately care and treatment of Angelman
Syndrome came as a result of the work and research of Dr. Harry Angelman in 1965.
Today, we know Angelman Syndrome
is a genetic disorder caused by abnormal function of the gene UBE3A, located within a small region (q11-q13) on chromosome
#15. This region is deleted from the maternally derived chromosome in approximately 80% of individuals with Angelman Syndrome.
For the remaining 20%, genetic testing can often identify other abnormalities that disrupt UBE3A function. Some individuals
in this latter group, however, still have apparently normal genetic laboratory studies; for these, the diagnosis is based
solely upon clinical findings.
Angelman Syndrome affects males, females and all racial/ethnic groups equally. There
are estimated to be between 1000 and 5000 cases in the U.S. and Canada.
Early diagnosis and intervention are beneficial
when Angelman Syndrome is suspected. Diagnosis can now be accomplished within the first year after birth. Therefore, a physician
familiar with the disorder can be an important resource. The Foundation can provide assistance in connecting families and
professionals interested in Angelman Syndrome.
As children with Angelman Syndrome are studied, many educational
and behavioral interventions have been shown to be effective in the areas of communication, schooling, sleep disturbances,
and general behavior. In addition, physical and occupational therapies, speech and language interventions, behavior modification
and parent training have proven worthwhile. A major focus is on alternative/enhanced communication techniques, as children
with Angelman Syndrome seem to have much greater receptive language ability than expressive ability.
You are not
alone. There is help. The Angelman Syndrome Foundation is available to provide information, education and support. Our national
organization is comprised of regional and local groups who may be close to you. We will strive to help you cope with and understand
this special person who has touched your life."
For more information: Angelman Syndrome Foundation
4255 Westbrook Drive, Suite 219
Aurora, IL 60504 Phone: (630) 978-4245
Fax: (630) 978-7408
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