TY - JOUR
T1 - International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
AU - Dahan-Oliel, Noémi
AU - Cachecho, Sarah
AU - Barnes, Douglas
AU - Bedard, Tanya
AU - Davison, Ann M.
AU - Dieterich, Klaus
AU - Donohoe, Maureen
AU - Fąfara, Alicja
AU - Hamdy, Reggie
AU - Hjartarson, Helgi T.
AU - S. Hoffman, Naimisha
AU - Kimber, Eva
AU - Komolkin, Igor
AU - Lester, Ruth
AU - Pontén, Eva
AU - van Bosse, Harold J.P.
AU - Hall, Judith G.
N1 - Publisher Copyright:
© 2019 The Authors American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals, Inc.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
AB - Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
KW - annotation
KW - arthrogryposis multiplex congenita
KW - collaboration
KW - definition
KW - expert opinion
UR - https://www.scopus.com/pages/publications/85068041836
U2 - 10.1002/ajmg.c.31721
DO - 10.1002/ajmg.c.31721
M3 - Article
C2 - 31282072
AN - SCOPUS:85068041836
SN - 1552-4868
VL - 181
SP - 288
EP - 299
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 3
ER -