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 a large patient organization, we surveyed caregivers of individuals with SMA below 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 caregiver sample consisted of 45 unpaid caregivers of individuals 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. On average, caregivers reported spending 136 hours/month managing the overall treatment, care, and support for the affected individual. Most of the individuals (91%) were reported to have received nusinersen; caregivers reported spending 29 hours managing treatment in a typical month. Caregiver time investment correlated directly with disease severity measured by both SMA type and patient motor function level. On average, caregivers rated their overall health as 76 on a scale of 0-100 using the EQ-5D-5L HRQoL visual analogue scale. 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 and represents a substantial burden. Disease severity is associated with an increasing amount of time required for care and support for patients with SMA and caregiver’s own HRQoL. As treatments become available, economic evaluation of these treatments should include effects on the family as well.