Quality of Life of Children With Spinal Muscular Atrophy and Their Caregivers: A Chinese Cross-sectional Study

Abstract

Background: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease leading to multiple organs dysfunction, which can impair the quality of life (QoL) of patients and family. We aimed to evaluate QoL of children with SMA and their caregivers, and to assess the associated factors in a Chinese cross-sectional study.Methods: 101 caregivers and children aged 0-14 years with SMA were recruited from a children hospital. 26 children had type I SMA, 56 type II and 19 type III. Children’s QoL was measured by the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM) that was filled by caregivers. Caregiver’s QoL was measured by the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM). Information on sociodemographic, disease-specific characteristics, and treatments were collected by the proxy-reported questionnaire. Two independent t-tests and one-way ANOVA were applied to compare differences in scores of QoL across subgroups.Results: Children with type III SMA had higher total score of PedsQL NMM, and scores in neuromuscular disease and family resources domain than those with type I and type II SMA (p < 0.001). Caregivers of children with type III SMA reported higher scores in domains of physical, emotional, social, and cognitive function of PedsQL FIM than those of children with types I and II (p < 0.05). In addition, disease-related characteristics (e.g. limited mobility, motor degeneration, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower scores of PedsQL NMM and PedsQL FIM (p < 0.05). Exercise training, multidisciplinary team management and using the medication nusinersen were associated with higher scores of QoL in both PedsQL NMM and FIM (p < 0.05). Conclusion: Our study has demonstrated the factors that may impair or improve QoL of children patients with SMA and their parents. Particularly, QoL was relatively poor in children with type I and type II SMA as well as in their caregivers than those with type III SMA. Our study called for attention from clinical physicians on measuring QoL in their clinical practices in order to enhance the understanding of impacts of SMA and make better decisions regarding treatment.