Rehabilitation practices for childhood spinal muscular atrophy.

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular condition characterized by muscle weakness and impaired motor function. The introduction of disease modifying treatments, such as gene therapy, have significantly improved prognosis. Children with SMA now have the potential for active rehabilitation, but limited evidence exists to guide rehabilitation professionals and families. Our objective was to explore and describe how rehabilitation therapists are approaching this changing landscape, including the challenges and opportunities. We conducted a qualitative study using a demographic survey and three focus groups with 10 occupational and physical therapists from across Canada. Participants shared their experiences navigating the changing landscape of SMA rehabilitation. Reflexive thematic analysis was used to analyze the transcripts and generate four main themes: (1) Managing Expectations; (2) New Possibilities; (3) Centering the Child; (4) Navigating a Changing Landscape. This study highlighted challenges and benefits in providing rehabilitation amidst the changing SMA landscape. Updated practice guidelines and effective knowledge dissemination are needed to guide therapists, alongside prioritization of psychosocial support for families and children coping with high expectations. What we learned about therapists' experiences may help inform others on how to adapt rehabilitation when disease modifying treatment options become available for other conditions.