Dr. Marina Flotats-Bastardas (Homburg / DE), Berenike Leibrock (Homburg / DE), PhD Justine Hussong (Homburg / DE), Simone Thiele (Homburg / DE), Sophia Abner (Homburg / DE), Prof. Dr. Maggie C. Walter (Homburg / DE), Prof Michael Zemlin (Homburg / DE), Prof Eva Moehler (Homburg / DE), Prof Ullrich Dillmann (Homburg / DE), PhD Erik Landfeldt (Homburg / DE)
Abstract-Text (inkl. Referenzen)
Objectives: To estimate self-assessed health related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA).
Methods: Online survey via national SMA registry in Germany. Estimates of self-reported HRQoL of the EQ-5D-5L rating scale (VAS score: visual analog scala) as well as utility score (preference-based estimate from members of the general population) were stratified by current best motor function (i.e., non-sitter, sitter, and walker).
Results: A total of 82 adults (mean age 43 years, SD 15,06) and 7 children (mean age 15 years, SD 1,40) completed the questionnaire: 10% non-sitter (1 SMA1, 6 SMA2, 2 SMA3), 58% sitter (3 SMA1, 26 SMA2, 29 SMA3), 22% walker (21 SMA3). 75 % of participants were on disease specific medication. Mean VAS score for adult participants was: non-sitter 69,71 (SD 22,19), sitter 71,4 (SD 21,75) and walker 63,95 (SD 21,96). Higher incidence in pain/discomfort domain was found on walkers (32%) compared to sitters (19%). The mean total utility score was 0,51 (SD 0,27, range -0,55 – 1). Mean VAS score for children was: non-sitter 87,5 (SD 3,54), sitter 64,67 (SD 25,01), walker 90 (SD 0). The mean total utility score was 0.54 (SD: 0.31, range: 0.30–1.00).
Conclusions: Estimates of self-reported HRQoL were higher in children than in adults with SMA, with exception of sitter group. As expected, mean utility scores were similar. Further deep analysis to better understand impact of specific disease therapies and disease burden are needed.