Angelman syndrome 2005: Updated consensus for diagnostic criteria

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

doi:10.1002/ajmg.a.31074

Angelman syndrome 2005: Updated consensus for diagnostic criteria

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	413-418
Number of pages	5
Journal	American Journal of Medical Genetics. Part A
Volume	140
Issue number	5
DOIs	https://doi.org/10.1002/ajmg.a.31074
Publication status	Published - 1 Mar 2006

Keywords

15q11.2-q13
Angelman syndrome
Behavioral phenotype
Criteria
Diagnosis
EEG
Imprinting center
Paternal UPD

Access to Document

10.1002/ajmg.a.31074

Cite this

@article{59d5dc4926674a2aac761ef6d936e02b,

title = "Angelman syndrome 2005: Updated consensus for diagnostic criteria",

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. {\textcopyright} 2006 Wiley-Liss, Inc.",

keywords = "15q11.2-q13, Angelman syndrome, Behavioral phenotype, Criteria, Diagnosis, EEG, Imprinting center, Paternal UPD",

author = "Williams, {Charles A.} and Beaudet, {Arthur L.} and Jill Clayton-Smith and Knoll, {Joan H.} and Martin Kyllerman and Laan, {Laura A.} and Magenis, {R. Ellen} and Ann Moncla and Schinzel, {Albert A.} and Summers, {Jane A.} and Joseph Wagstaff",

year = "2006",

month = mar,

day = "1",

doi = "10.1002/ajmg.a.31074",

language = "English",

volume = "140",

pages = "413--418",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley & Sons Ltd",

number = "5",

}

TY - JOUR

T1 - Angelman syndrome 2005: Updated consensus for diagnostic criteria

AU - Williams, Charles A.

AU - Beaudet, Arthur L.

AU - Clayton-Smith, Jill

AU - Knoll, Joan H.

AU - Kyllerman, Martin

AU - Laan, Laura A.

AU - Magenis, R. Ellen

AU - Moncla, Ann

AU - Schinzel, Albert A.

AU - Summers, Jane A.

AU - Wagstaff, Joseph

PY - 2006/3/1

Y1 - 2006/3/1

N2 - 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.

AB - 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.

KW - 15q11.2-q13

KW - Angelman syndrome

KW - Behavioral phenotype

KW - Criteria

KW - Diagnosis

KW - EEG

KW - Imprinting center

KW - Paternal UPD

U2 - 10.1002/ajmg.a.31074

DO - 10.1002/ajmg.a.31074

M3 - Article

C2 - 16470747

SN - 1552-4825

VL - 140

SP - 413

EP - 418

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 5

ER -

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Abstract

Keywords

Access to Document

Fingerprint

Cite this