A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France

BACKGROUND: Despite 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). METHODS: Semi-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. RESULTS: (e.g., joystick control, independent transfers), which are highly individualized and critical for social participation. Patients prioritized the assessment of these specific abilities. HCPs corroborated the limitations of standard tools (insensitivity, confounding factors) and logistical constraints. In response, HCPs have developed numerous "home-made," non-validated assessments and used personalized tools to capture meaningful changes, especially in severely affected patients. 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.