P.427 - Family impact and Health-Related Quality of Life (HRQoL) of parents and individuals with SMA

Abstract

SMA is characterized by muscle weakness and wasting, and the need for respiratory support and extensive care as the disease progresses. Little is known about HRQoL in SMA; however it is assumed that increased dependency and disease progression leads to poorer QoL for individuals and families living with SMA. To assess HRQoL the Pediatric Quality of Life Inventory(PedsQL) 4.0 Generic Core Scales, and PedsQL 3.0 Neuromuscular Module(NM) were completed by parents of individuals with SMA <18 years and by adults ≥18years with SMA via the Cure SMA membership update survey. Scores on the PedsQL range from 0–100, with higher scores indicating better functioning. Parents completed the PedsQL Family Impact Module (FIM) to assess parent self-reported HRQoL and family impact. A total of 482 surveys from 456 different families representing 468 unique individuals with SMA were completed by interim data cut. Of the 468 individuals with SMA, 29% had Type 1, 38% Type 2, 29% Type 3. The PedsQL NM was completed by 209 parents. Overall total mean PedsQL NM scores was 50.7(SD 17.5), with the lowest scores in Type 1(mean 39.8), followed by Type 2(mean 51.2), and Type 3(mean 62.9). The PedsQL FIM was completed by 241 parents. Overall total mean FIM score was 54.9(SD 18.4), range 0–93.75. A significant difference (p < 0.01) was observed in overall total FIM score by increasing SMA Type (Type 1: mean 49.4, SD 18.0; Type 2: mean 55.2, SD 17.7; Type 3: mean 62.3, SD 18.3). The mean summary score on the parent HRQoL was 55.5 (SD 18.1), range 0–94.6, with a significant trend (p < 0.01) of increasing scores by increasing SMA type. This study sought to understand and assess HRQoL and family impact of SMA on parents/families of individuals with SMA and HRQoL in adults with SMA. Research on the impacts of SMA on parent HRQoL and family impact are important to advance disease burden understanding and highlights the importance of family and patient advocacy and support services.