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1995 年至 2022 年先天性多发性关节挛缩症文献研究范围-范围综述。

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

机构信息

Department of Neurology, Oslo University Hospital (Ullevaal Hospital), Oslo, 0450, Norway.

TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1453 Nesodden, Oslo, Norway.

出版信息

Am J Med Genet A. 2023 Jul;191(7):1693-1703. doi: 10.1002/ajmg.a.63201. Epub 2023 Apr 3.

Abstract

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.

摘要

先天性多发性关节挛缩症(AMC)定义为“一种以两个或多个身体部位关节挛缩为特征的先天性疾病”。鉴于其异质性,AMC 的定义已经多次改变。本范围综述概述了 AMC 在科学出版物中的定义,以及关于 AMC 概念的现有知识和趋势。我们的综述揭示了可能存在的知识空白,并为未来的研究提供了方向。根据系统评价和荟萃分析扩展的首选报告项目进行了范围综述。纳入了 1995 年至今关于 AMC 的定量研究。我们总结了关于 AMC 的定义/描述、研究目标、研究设计、方法、资金以及患者组织参与的信息。共筛选出 2729 篇参考文献,符合纳入标准的有 141 篇文章。我们的范围综述表明,大多数出版物是关于儿童和年轻人的横断面或回顾性研究,通常是关于矫形管理。86%的病例提供了明确或良好的 AMC 定义。最近关于 AMC 的出版物主要使用基于共识的定义。研究空白主要与成年人、老龄化、病因学和新的医疗治疗有关,此外还涉及日常生活的影响。

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