Health-Related Quality of Life in Children with Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by weakness and muscle atrophy. Due to the chronic nature of SMA, it is important to understand the health-related quality of life among children affected by this disease. Participants were recruited from the Canadian Neuromuscular Disease Registry, where 45 families completed the Pediatric Quality of Life Inventory questionnaires. Results from the child self-report and parent proxy questionnaires were compared to those of healthy children and children with Duchenne Muscular Dystrophy. Agreement between parents and children was assessed using paired t-tests and intraclass correlation coefficients. Additionally, multivariable linear regressions were used to determine child and family characteristics associated with health-related quality of life outcomes. Higher levels of perceived fatigue were consistently associated with lower health-related quality of life outcomes. Based on the results, interventions to reduce fatigue could lead to improvement of health-related quality of life for children with Spinal Muscular Atrophy