Abstract
Abstract
Background
Arthrogryposis multiplex congenita (AMC) is a group of rare congenital disorders characterized by multiple joint contractures present at birth. Contractures can affect different body areas and impact activities of daily living, mobility and participation. Although early rehabilitation is crucial to promote autonomy and participation in children with AMC, empirical evidence to inform best practice is scarce and clinical expertise hard to develop due to the rarity of AMC. Preliminary research involving stakeholders in AMC (youth with AMC, parents, and clinicians) identified priorities in pediatric rehabilitation. Scoping reviews on these priorities showed a lack of high quality evidence related to rehabilitation in AMC. The objective of this project is to provide rehabilitation expert guidance on the assessment and treatment of children with AMC in the areas of muscle and joint function, pain, mobility and self-care, participation and psychosocial wellbeing.
Methods
An integrated knowledge translation approach will be used throughout the project. Current rehabilitation practices in AMC will be identified using a clinician survey. Using the Grading of Recommendations, Assessment, Development and Evaluations framework (GRADE) approach, a panel of interdisciplinary expert clinicians, patient and family representatives, and researchers will develop expert guidance on the assessment and treatment for pediatric AMC rehabilitation based on findings from the scoping reviews and survey results. Consensus on the guidance statements will be sought using a modified Delphi process with a wider panel of international AMC experts, and statements appraised using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool. Theoretical facilitators and barriers toward implementing clinical guidance into practice will be identified among rehabilitation clinicians and managers to inform the design of dissemination and implementation strategies.
Discussion
This multi-phase project will provide healthcare users and providers with research-based, expert guidance for the rehabilitation of children with AMC and will contribute to family-centered practice.
Funder
Edith Strauss Foundation
Fonds de Recherche du Québec - Santé
Publisher
Springer Science and Business Media LLC
Subject
General Health Professions,Health (social science)
Reference44 articles.
1. Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013;28(9):1142–50.
2. Griggs RC, Batshaw M, Dunkle M, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96(1):20–6.
3. Cachecho S, Elfassy C, Hamdy R, Rosenbaum P, Dahan-Oliel N. Arthrogryposis multiplex congenita definition: update using an international consensus-based approach. Am J Med Genet C. 2019;181(3):280–7.
4. Fahy MJ, Hall JG. A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genet Couns. 1990;1(1):3–11.
5. Staheli L. Arthrogryposis: a text atlas. 1st ed. Cambridge: Cambridge University Press; 1998.
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献