Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy

Baldini V.;Varallo G.;Redolfi S.;Liguori R.;Plazzi G.

2025-01-01

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Abstract

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by the mutation of the survival motor neuron 1 (SMN1) gene. Sleep disturbances and their impact on mental health and quality of life in patients with SMA are being understudied, and most of the evidence comes from pediatric SMA patients. We conducted a cross-sectional survey of adult patients with SMA. The participants underwent questionnaires exploring sleep quality with the Pittsburgh Sleep Quality Index (PSQI), depressive symptoms with the Patient Health Questionnaire-9 (PHQ-9), and quality of life with the Short-Form Health Survey 36 (SF-36). Fifty patients with SMA were enrolled in the study: 66 % were females with a median age of 41 years. Of them, 60 % had poor sleep quality, and 72 % had depressive symptoms. SMA 2 patients showed higher PSQI and PHQ-9 scores than SMA 3 patients (8 ± 3 vs 6 ± 1, p < 0.001 and 13±5 vs 7 ± 5, p < 0.001). PSQI total score correlated with the PHQ-9 (r = 0.32, p = 0.02), which was higher in patients with respiratory symptoms. Poor sleep is associated with depressive symptoms and respiratory dysfunction in adult SMA patients. Clinicians should consider sleep quality in SMA patients for optimal care; future studies are needed to understand this aspect better.