Angelman syndrome 2005: updated consensus for diagnostic criteria.
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 years, it is necessary now to review the validity of the original consensus criteria. As in the original consensus project, the methodology used for this review was to convene a group of scientists and clinicians, with experience in AS, to develop a concise consensus statement, supported by scientific publications where appropriate. It is hoped that this revised consensus document will facilitate further clinical study of individuals with proven AS, and assist in the evaluation of those who appear to have clinical features of AS but have normal laboratory diagnostic testing.
Williams
Charles A
CA
Department of Pediatrics, Division of Genetics, R.C. Philips Unit, University of Florida, Gainesville, Florida 32610, USA. Willicx@peds.ulf.edu
Beaudet
Arthur L
AL
Clayton-Smith
Jill
J
Knoll
Joan H
JH
Kyllerman
Martin
M
Laan
Laura A
LA
Magenis
R Ellen
RE
Moncla
Ann
A
Schinzel
Albert A
AA
Summers
Jane A
JA
Wagstaff
Joseph
J
D017204:Angelman Syndrome / Q000175:diagnosis*; D006801:Humans; D017410:Practice Guidelines as Topic