Electronic Thesis and Dissertation Repository

Thesis Format

Integrated Article

Degree

Master of Science

Program

Epidemiology and Biostatistics

Supervisor

Campbell, Craig

Abstract

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.

Summary for Lay Audience

Spinal muscular atrophy is one of the most common fatal genetic childhood diseases. This motor nerve disorder causes weakening of the muscles. Due to the serious and long-term nature of spinal muscular atrophy, it is important for healthcare workers and researchers to try to understand and improve the health-related quality of life in children with this disease.

In this study, both children with spinal muscular atrophy and their parents filled out questionnaires asking about the child’s health-related quality of life. We looked at whether scores from children with spinal muscular atrophy were different than scores from healthy children and children with another neuromuscular condition. We also assessed whether children and their parents had similar scores, and lastly, we looked at any social or clinical factors that may be related to a child’s health-related quality of life.

The health-related quality of life scores of children with SMA were worse compared to those of healthy children in all domains, and worse in the physical domains compared children with another neuromuscular condition. The agreement between children and parent scores ranged from good to poor, with parents reporting lower scores in most topics compared to their children. Lastly, fatigue was the factor most associated to worse HRQL scores.

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