Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.
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| Title: | Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany. |
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| Authors: | Landfeldt, Erik (AUTHOR), Leibrock, Berenike (AUTHOR), Hussong, Justine (AUTHOR), Thiele, Simone (AUTHOR), Walter, Maggie C. (AUTHOR), Moehler, Eva (AUTHOR), Zemlin, Michael (AUTHOR), Dillmann, Ulrich (AUTHOR), Flotats-Bastardas, Marina (AUTHOR) |
| Source: | Quality of Life Research. Jul2024, Vol. 33 Issue 7, p1949-1959. 11p. |
| Subjects: | Spinal muscular atrophy, Quality of life, Adults, Medical registries, Neuromuscular diseases, Life expectancy, Trauma registries, Neuromuscular transmission |
| Geographic Terms: | Germany |
| Abstract: | Purpose: Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy. Methods: Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry. HRQoL was measured using the EQ-5D-5L, the Health Utilities Index Mark III (HUI), and the Short Form (36) Health Survey (SF-36). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III). Results: A total of 82 adults with SMA (mean age: 42 years, 51% female) self-completed the study questionnaire. The mean EQ-5D-5L utility was estimated at 0.5135 (range across subgroups: 0.31–0.99), mean EQ-VAS at 69.71 (64.67–90.00), mean HUI-derived utility at 0.3171 (– 0.02–0.96), mean SF-6D utility at 0.6308 (0.58–0.65), and mean SF-36 Physical Component Summary and Mental Health Component Summary scores at 33.78 (9.92–53.10) and 53.49 (21.02–72.25), respectively. Conclusions: We show that adults with SMA experience considerable impairment across a wide range of health dimensions, including mobility, dexterity, pain, and emotional well-being. However, our results exhibit non-trivial variability across clinical subgroups and HRQoL measures. These data contribute to our understanding of the subjective impact of living with a severely debilitating neuromuscular disease, such as SMA. [ABSTRACT FROM AUTHOR] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | Purpose: Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy. Methods: Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry. HRQoL was measured using the EQ-5D-5L, the Health Utilities Index Mark III (HUI), and the Short Form (36) Health Survey (SF-36). Estimates were stratified by current best motor function of the lower limb and trunk (i.e., non-sitter, sitter, and walker) and SMA type (i.e., type I, II, and III). Results: A total of 82 adults with SMA (mean age: 42 years, 51% female) self-completed the study questionnaire. The mean EQ-5D-5L utility was estimated at 0.5135 (range across subgroups: 0.31–0.99), mean EQ-VAS at 69.71 (64.67–90.00), mean HUI-derived utility at 0.3171 (– 0.02–0.96), mean SF-6D utility at 0.6308 (0.58–0.65), and mean SF-36 Physical Component Summary and Mental Health Component Summary scores at 33.78 (9.92–53.10) and 53.49 (21.02–72.25), respectively. Conclusions: We show that adults with SMA experience considerable impairment across a wide range of health dimensions, including mobility, dexterity, pain, and emotional well-being. However, our results exhibit non-trivial variability across clinical subgroups and HRQoL measures. These data contribute to our understanding of the subjective impact of living with a severely debilitating neuromuscular disease, such as SMA. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 09629343 |
| DOI: | 10.1007/s11136-024-03665-5 |
