P.213Ambulation status, role participation and caregiver assistance among individuals with spinal muscular atrophy type III: results from the 2018 cure SMA membership survey

Abstract

Although individuals with spinal muscular atrophy (SMA) type III may have a normal life expectancy, many patients experience loss of ambulation, highlighting the potential for significant disease burden among patients and their families. We sought to further understand disease burden by examining educational and occupational engagement among SMA type III patients and level of caregiver assistance. Data came from the 2018 Cure SMA Membership Survey of affected individuals and/or their caregivers. Analyses described ambulation status, engagement in age-appropriate roles (school, employment), and reliance on caregivers among SMA type III patients. A total of 138 individuals with SMA type III (type IIIa: n = 48, type IIIb: n = 90) were included. Average age at survey for type IIIa was 15.1 (standard deviation [SD] = 12.4) years, and 38.1 (SD = 18.1) years for type IIIb. Approximately half of the type IIIa and IIIb patients had lost their ability to walk. Most school-aged children (5-17 years, n = 42) were currently in school (type IIIa: 81.5%, type IIIb: 100%). 71.4% and 49.3% of adults with type IIIa and IIIb, respectively, were in school or employed. Nearly all type IIIa patients (97.9%) and the majority with type IIIb (86.7%) reported having a caregiver. For both SMA subtypes, a family member was most frequently identified as the full-time caregiver; about one-quarter of patients (type IIIa: 29.2%, type IIIb: 18.9%) reported having a paid caregiver. Over three-quarters of both type IIIa and IIIb patients with a paid caregiver reported needing assistance for >=20 hours per week. Results highlight the loss of ambulation many individuals with type III face, often by adolescence for type IIIa; potential impacts on education and employment into adulthood; and the high degree of reliance on family and paid caregivers. The individual, family and potential economic impacts of SMA type III may be substantial and should be studied further.