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.
Department of Pediatrics, Division of Genetics, R.C. Philips Unit, University of Florida, Gainesville, Florida 32610, USA. Willicx@peds.ulf.edu
Charles A
CA
Williams
Arthur L
AL
Beaudet
Jill
J
Clayton-Smith
Joan H
JH
Knoll
Martin
M
Kyllerman
Laura A
LA
Laan
R Ellen
RE
Magenis
Ann
A
Moncla
Albert A
AA
Schinzel
Jane A
JA
Summers
Joseph
J
Wagstaff
D017204:Angelman Syndrome / Q000175:diagnosis*; D006801:Humans; D017410:Practice Guidelines as Topic