Data Sheet 2_Dutch rehabilitation physicians’ perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape.docx

BackgroundMany children with hereditary proximal spinal muscular atrophy (SMA) develop joint contractures. With the introduction of disease-modifying treatments (DMTs) for SMA, the improved functional prognosis may change the focus of (preventive) contracture management.
ObjectiveThis study aimed to describe current approaches to contracture management among Dutch pediatric rehabilitation physicians caring for children with SMA receiving DMT, and to explore the underlying considerations and clinical reasoning that inform their decisions on contracture management in the evolving therapeutic landscape.
MethodsAll registered pediatric rehabilitation physicians (n = 151) received a survey, addressing two main topics: (1) indication and purpose of contracture management, and (2) alignment of clinical decision-making with current guidelines. To this end, three standardized case scenarios were presented. Respondents were asked to indicate whether their current choices, were consistent with the guideline recommendations. To obtain a deeper understanding of the considerations and clinical reasoning regarding contracture management in the era of DMTs, we held an advisory group meeting. We audio-recorded the discussions and analyzed the content thematically.
ResultsThe response rate was 56%; 41 of these respondents were not involved in SMA care. 38 of the 44 surveys, completed by participants involved in SMA care, were suitable for analysis. All respondents (strongly) agreed about ‘optimal sitting posture’ being an important treatment goal, 95% agreed on ‘pain prevention’ and 87% on ‘maintaining function’. Physicians recommended daily use of hand splints less frequently in children who started DMT before onset of symptoms (35%) than in children who started DMT at an advanced disease stage (54%). Thematic analysis revealed three themes shaping clinical reasoning: (1) functional prognosis as key element in decision-making; (2) clinical uncertainty regarding contracture intervention; and (3) incorporation of contextual factors.
ConclusionDutch pediatric rehabilitation physicians describe challenges in clinical decision-making regarding contracture management in a changing landscape for SMA. The use of key principles could facilitate the process, including: (1) assessing the child’s functional prognosis; (2) engaging in open discussions with parents about uncertainties arising from limited clinical experience and the evolving understanding of disease trajectories in the early post-DMT era; and (3) applying the ICF framework to incorporate contextual factors into clinical decision-making regarding contracture management.

背景 遗传性近端脊髓性肌萎缩症（hereditary proximal spinal muscular atrophy, SMA）患儿多会出现关节挛缩。随着SMA疾病修正治疗（disease-modifying treatments, DMTs）的问世，患者功能预后得到改善，这或许会改变（预防性）关节挛缩管理的关注重点。

目的 本研究旨在描述荷兰收治接受疾病修正治疗的SMA患儿的儿科康复医师当前的关节挛缩管理方案，并探索在不断发展的治疗格局下，指导其开展关节挛缩管理决策的核心考量因素与临床推理过程。

方法 本研究向所有注册的儿科康复医师（共151名）发放了调查问卷，内容涵盖两大主题：一是关节挛缩管理的适应证与目标；二是临床决策与当前指南的契合度。为此，研究设计了三个标准化病例场景，要求受访者说明其当前诊疗方案是否符合指南推荐。为深入了解疾病修正治疗时代下关节挛缩管理的考量因素与临床推理，研究团队召开了顾问小组会议，对讨论内容进行录音并开展主题化内容分析。

结果 本次调查的应答率为56%，其中41名受访者未参与SMA诊疗工作。参与SMA诊疗的44名受访者中，共回收有效问卷38份用于分析。所有受访者均（强烈）认同"最优坐姿"为重要的治疗目标，95%的受访者认可"疼痛预防"的重要性，87%的受访者认同"维持功能"这一目标。相较于在症状出现前启动疾病修正治疗的患儿（35%的医师推荐每日佩戴手部支具），在疾病晚期启动疾病修正治疗的患儿中，推荐每日使用手部支具的医师占比更高（54%）。主题分析揭示了三类影响临床推理的核心要素：一是功能预后作为决策的关键依据；二是关节挛缩干预措施存在临床不确定性；三是情境因素的纳入考量。

结论 荷兰儿科康复医师在SMA治疗格局不断变化的背景下，关节挛缩管理的临床决策仍面临诸多挑战。可通过以下核心原则优化该流程：一是评估患儿的功能预后；二就临床经验不足以及疾病修正治疗早期阶段对疾病进程认知不断更新所带来的不确定性，与患儿家属开展坦诚沟通；三是应用国际功能、残疾和健康分类（International Classification of Functioning, Disability and Health, ICF）框架，将情境因素纳入关节挛缩管理的临床决策中。