The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.

Autor: Hermansen MV; Department of Neurology, Oslo University Hospital (Ullevaal Hospital), Oslo, 0450, Norway., Wekre LL; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1453 Nesodden, Oslo, Norway., Lidal IB; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1453 Nesodden, Oslo, Norway.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1693-1703. Date of Electronic Publication: 2023 Apr 03.
DOI: 10.1002/ajmg.a.63201
Abstrakt: Arthrogryposis multiplex congenita (AMC) is defined as "a group of congenital conditions characterized by joint contractures in two or more body areas." Given its heterogeneity, the definition of AMC has changed multiple times. This scoping review provides an overview of how AMC is defined in scientific publications, on existing knowledge and trends regarding the concept of AMC. Our review illuminates possible knowledge gaps and provides directions for future research. A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines. Quantitative studies on AMC from 1995 to date were included. We summarized information about definitions/descriptions of AMC, study objectives, study designs, methods, funding, and involvement of patient organizations. A total of 2729 references were screened, and 141 articles fulfilled our inclusion criteria. Our scoping revealed that the majority of publications were cross-sectional or retrospective studies of children and young people, commonly about orthopedic management. Explicit or good definitions of AMC were provided in 86% of the cases. Recent publications on AMC mostly used consensus-based definitions. The research gaps were primarily related to adults, aging, etiology, and new medical treatment, in addition to implications on daily life.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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