Dutch rehabilitation physicians' perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape

Irene L.B. Oude Lansink^1,2*Anita Beelen²Esther Kruitwagen-van Reenen²Sanne van der Vossen³Jan Willem Gorter^1,2,4

• ¹Department of Rehabilitation, Physical Therapy Science & Sports, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, Netherlands
• ²Center of Excellence for Rehabilitation Medicine, UMC Utrecht Brain Center, University Medical Center Utrecht, and De Hoogstraat Rehabilitation, Utrecht, Netherlands
• ³Revalidatiecentrum De Hoogstraat, Utrecht, Netherlands
• ⁴CanChild Center for Childhood Disability Reasearch, McMaster University Department of Pediatrics, Hamilton, Canada

Background: Many children with hereditary proximal spinal muscular atrophy (SMA) develop joint contractures. With the introduction of disease-modifying treatments (DMTs), the improved functional prognosis may change the focus of (preventive) contracture management. Objective: This 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. Methods: All 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, we held an advisory group meeting. We audio-recorded the discussions and analyzed the content thematically. Results: The 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. Conclusions: Dutch 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.