Impact of Spinal Muscular Atrophy on Caregivers’ Daily Activities and Health-Related Quality of Life

Abstract Background:Spinal muscular atrophy (SMA) is a genetic debilitating disease affecting approximately 10,000 individuals in the United States. Individuals with SMA frequently require caregiver support and care. Through a partnership with Cure SMA, we surveyed caregivers of individuals with SMA <18 years of age to understand the impact of SMA on caregivers with respect to their daily activities and health-related quality of life (HRQoL). In addition to structured questions, a standardized HRQoL instrument, the EQ-5D-5L and visual analogue scale, were administered.Results:The sample consisted of 45 unpaid caregivers of children with SMA. Of them, 22% reported that they were sole caregivers that received no additional caregiving support and 98% were parents of an affected individual. The majority of caregivers cared for individuals with type 2 (58%), followed by type 1 (38%) and type 3 (4%) SMA. Sixty-four percent of the individuals with SMA were able to sit without support or better, while 31% had some motor function and 5% reported no motor function. Across SMA types, caregivers reported spending a median 80 hours per month managing the overall care and treatment of the affected individual.. Most of the individuals (91%) were reported to have received nusinersen. Caregiver time investment correlated directly with disease severity measured by both SMA type and patient motor function level. The mean EQ-5D utility score for caregivers was 0.71 and their mean score on the EQ-5D visual analogue scale was 76. Specifically, 42% of caregivers reported any inability to do their usual activities and 73% reported any anxiety or depression.Conclusions:SMA negatively affects caregiver’s daily activities and HRQoL, representing a substantial burden. Disease severity is associated with an increasing amount of time required for care and support for patients with SMA and a decrease in a caregiver’s HRQoL. As treatments become available, evaluation of these treatments should include effects on the family as well.