Dahan-Oliel Noémi, Cachecho Sarah, Fąfara Alicja, Lacombe Francis, Samargian Ani, Bussières André
Shriners Hospital for Children, Montreal, Canada.
School of Physical and Occupational Therapy, McGill University, Montreal, Canada.
Res Involv Engagem. 2022 Feb 18;8(1):5. doi: 10.1186/s40900-022-00336-y.
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.
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.
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.
先天性多发性关节挛缩症（AMC）是一组罕见的先天性疾病，其特征是出生时即存在多个关节挛缩。挛缩可影响身体不同部位，并影响日常生活活动、 mobility 和参与度。尽管早期康复对于促进AMC患儿的自主性和参与度至关重要，但由于AMC病例罕见，用于指导最佳实践的实证证据稀缺，临床专业知识也难以积累。涉及AMC利益相关者（AMC青少年、家长和临床医生）的初步研究确定了儿科康复的重点。对这些重点的范围审查表明，缺乏与AMC康复相关的高质量证据。本项目的目的是在肌肉和关节功能、疼痛、 mobility 和自我护理、参与度以及心理社会福祉等领域，为AMC患儿的评估和治疗提供康复专家指导。
整个项目将采用综合知识转化方法。通过临床医生调查确定AMC当前的康复实践。使用推荐分级、评估、制定和评价框架（GRADE）方法，由跨学科专家临床医生、患者和家庭代表以及研究人员组成的小组将根据范围审查结果和调查结果，制定儿科AMC康复评估和治疗的专家指导意见。将使用改良的德尔菲法，与更广泛的国际AMC专家小组就指导声明达成共识，并使用《研究与评价指南评估II》（AGREE II）工具对声明进行评估。将在康复临床医生和管理人员中确定将临床指导意见应用于实践的理论促进因素和障碍，以为传播和实施策略的设计提供参考。
这个多阶段项目将为医疗保健使用者和提供者提供基于研究的、针对AMC患儿康复的专家指导，并将有助于以家庭为中心的实践。
