A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions.

Abstract

Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. To report on the quality of life and family experience for children with spinal muscular atrophy with attentiveness to patient- and proxy-concordance and to stratify quality of life reports by spinal muscular atrophy type and medical interventions. A prospective, crossover survey study inclusive of 58 children (26 spinal muscular atrophy type I, 23 type II, 9 type III) and their family caregivers at a free-standing Midwestern children's hospital. Twenty-eight families completed the 25-item PedsQL 3.0 Neuromuscular Module. Forty-four participants completed the 36-item PedsQL Family Impact Module and 47 completed the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire. The PedsQL Family Impact Module demonstrated significant differences between spinal muscular atrophy types I and II in functioning domains including physical, emotional, social, and family relations (P < .03). Child self-report and proxy report surveys demonstrated significant differences between spinal muscular atrophy types in the communication domains (P < .003). Children self-reported their quality of life higher than proxy report of child quality of life. Gastrostomy tube (P = .001) and ventilation support (P = .029) impacted proxy-reported quality of life perspectives, whereas nusinersen use did not. Spinal surgery was associated with improved parental quality of life and family impact (P < .03). The measurement and monitoring of quality of life for children with spinal muscular atrophy and their families represents an implementable priority for care teams.