ArticleJournal of neuromuscular diseases2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France.
Article in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
21 authors.
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Abstract
backgroundDespite advancements in spinal muscular atrophy (SMA) management, evaluating outcomes in adults remains difficult. Standard motor scales often show floor/ceiling effects and fail to capture patient-relevant constructs. This creates a disconnect between clinical measurements and the lived experience of adults with SMA, particularly in regulatory contexts requiring demonstrable benefit. This qualitative study explored the evaluation priorities, expectations, and preferences of adults with SMA and the corresponding assessment challenges faced by healthcare practitioners (HCPs).
methodsSemi-structured interviews with 18 adults with SMA (types 1b-3) and 31 multidisciplinary HCPs from 14 specialized French centers were conducted. Data were analyzed using reflexive thematic analysis and triangulation.
resultsAdults with SMA found standard assessments burdensome, fatiguing, and lack relevance. Their primary goal was maintaining an DISCUSSION: A discrepancy exists between current standardized SMA assessments and patients priorities. It highlights a need for outcome measures that align with patients' priorities, particularly "keystone abilities." HCPs' innovative approaches offer a promising direction for future assessment development, advocating for a shift towards individualized, holistic evaluation in SMA care.
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