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Angelman Syndrome

Overview
Angelman Syndrome (AS) is a genetic neurological disorder in which severe
learning difficulties are associated with a characteristic facial appearance and
behavior.
Causes
In most individuals, Angelman Syndrome appears to occur for unknown
reasons. However, some familial
cases have been reported. AS is thought to be caused by a genetic disorder
relating to a deletion
of a certain gene located on the 15th chromosome.
Angelman Syndrome affects males, females and all
racial/ethnic groups equally. It is estimated that 1 in 25,000 children
are born with AS in the United States and Canda.
Characteristics
All individuals born with AS experience severe developmental delay or mental
retardation, difficulties with verbal communication, movement or balance
disorders, and unique behavior that sometimes includes unusual expression of
emotion, hand-flapping movements and a short-attention span.
Most children born with AS (80%) experience microcephaly (small head size) that is noticeable by age 2 and seizures.
Diagnosis
Angelman Syndrome has confounded and confused the
medical community and parents of Angelman individuals for many years: itıs now
believed thousands of Angelman Syndrome cases have gone undiagnosed or
misdiagnosed as cerebral
palsy, autism or other childhood disorders. Some other terms or diagnoses
for Angelman Syndrome include:
Treatment
There is no cure for AS but there are treatments for some symptoms of AS.
From the earliest stages (as with typically developing children), structured
play is encouraged. Educational and behavioral approaches can be helpful in the
areas of communication, schooling, sleep disturbances, and general behavior.
Seizures can be controlled by the use of anticonvulsant medication.
In addition, physical and occupational therapies,
speech and language interventions, behavior modification can also be useful.A
major focus is on alternative/adaptive communication techniques, as individuals
with Angelman Syndrome seem to have much greater receptive language ability than
expressive ability.
Other Information Resources
Washington Angelman Syndrome Foundation (WASF)
http://www.wasf.com
Angelman Syndrome Foundation (ASF)
http://www.angelman.org
Angelman Syndrome Information for Families and
Professionals
http://asclepius.com/angel/
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This page last updated: Sunday, November 25, 2007