Perceived Impact on the Daily Lives of Patients with Spinal Muscular Atrophy Treated with Nusinersen

OBJECTIVES: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by SMN1 mutations, leading to progressive muscle weakness. Although nusinersen improves motor function, its broader impact on daily life remains insufficiently understood. This study explored caregivers' perceptions of nusinersen treatment and identified themes reflecting its influence on everyday functioning. METHODS: An observational study included 23 children with SMA (10 type 2, 7 type 3, 6 type 1) treated with nusinersen for up to 36 months. The mean age at interview was 6.3 years (SD 2.3). Caregivers completed a semi-structured questionnaire with closed and open-ended items. Narrative responses were analyzed using natural language processing (NLP) and topic modeling to identify recurring patterns. RESULTS: Caregivers reported consistent positive effects. NLP identified three thematic clusters: Functional and Daily Progress (34.9%), Global Improvement and Quality of Life (33.6%), and Hospitalization and Physical Recovery (31.5%). Reported benefits included improved swallowing, easier breathing, fewer hospitalizations, increased independence, and enhanced mood. Families emphasized reduced stress and improved family dynamics. CONCLUSIONS: Caregivers perceive nusinersen as providing meaningful improvements in daily functioning beyond motor outcomes. Incorporating caregiver-reported insights through NLP may enrich treatment evaluation and support holistic, patient- and family-centered care in SMA.