Angelman syndrome 2005: Updated consensus for diagnostic criteria

✍ Scribed by Charles A. Williams; Arthur L. Beaudet; Jill Clayton-Smith; Joan H. Knoll; Martin Kyllerman; Laura A. Laan; R. Ellen Magenis; Ann Moncla; Albert A. Schinzel; Jane A. Summers; Joseph Wagstaff

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 90 KB
• Volume: 140A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31074

✦ Synopsis

Abstract

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. © 2006 Wiley‐Liss, Inc.