Angelman Syndrome: Making the Diagnosis
Angleman syndrome is a rare genetic disorder that occurs in about
1 in 15,000 to 1 in 30,000 births. It has historically been a long
and difficult process for many families to obtain a correct diagnosis;
but early diagnosis is not only desirable, it is critical if the
best treatment is to be obtained, including appropriate therapies
and successful medications for seizures. Two documentaries and four
diagnostic clips - video footage of over 40 individuals with AS
- to help both pediatricians and families better understand the
diagnostic characteristics of AS.
An Overview of Angelman Syndrome Narrated by Charles Williams,
MD Running Time: 40 minutes
Pediatrician Dr. Charles Williams is a world-renowned expert on
Angelman syndrome and the director of one of the first centers of
AS research at the University of Florida. In this comprehensive
documentary, he explains the clinical features of AS, which are
illustrated by footage of 28 individuals with AS.
Diagnosing Angelman Syndrome Narrated by Jill Clayton-Smith,
MD Running time: 26 minutes
Dr. Jill Clayton-Smith, an expert in the treatment and diagnosis
of Angelman syndrome in the United Kingdom, explains how to make
a diagnosis of AS. A clinic appointment with Lauren, a 22 month
old girl with a clinical diagnosis of AS, demonstrates Dr. Clayton-Smith's
Pages of text listing all the diagnostic criteria for Angelman syndrome,
with links to video examples. A collection of clips designed to
give the viewer a good idea of the most common clinical features
of AS, such as communication abilities, gross and fine motor skills,
hypermotoric behavior, and unique behavioral characteristics. The
subjects shown vary in age, diagnosis, and ethnicity.
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These tapes are not intended to prescribe or advise treatments or
Please consult your physician, medical professional, or therapist
for any medical advice.
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A portion of the
proceeds from the sales of these videos will go to the continuing
development of The Angelman
Project and to the Angelman Syndrome Foundation.