Date of Award

Spring 2020

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Debera Zvejnieks

Abstract

Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®), or both nusinersen and onasemnogene abeparvovec-xioi. Methods: The parents of children with SMA were recruited to complete anonymous online surveys. All surveys included qualitative questions about quality of life. Surveys regarding children in the 1-12-month and 13-24-month age groups included the Pediatric Quality of Life Infant Scales assessment. Surveys regarding children in the 2-4-year age group included the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Pediatric Quality of Life 3.0 Neuromuscular Module assessments. The >4-year age group did not include a quantitative quality of life assessment. Results: The 1-12-month age group average physical quality of life summary score was increased for children treated with a combination of both nusinersen and onasemnogene abeparvovec-xioi and also those treated with onasemnogene abeparvovec-xioi only. The 1-12-month- age group average psychosocial quality of life summary score was increased for children treated with nusinersen only. Physical and psychosocial quality of life data regarding the 13-24-month age group was not statistically significant. All surveys regarding the 2-4-year age group and one survey from the >4-year age group were excluded to eliminate the possibility of identifying participants. Conclusion: It was not possible to identify and associate a single treatment with conferring a statistically higher quality of life; however, the quantitative and qualitative responses collected allowed for an inference that parents believe their children with SMA have a greater quality of life when provided treatment over having only supportive care. Before the FDA approval of the available treatments, healthcare providers who shared the diagnosis of SMA with parents had to also share that there was no known effective treatment. However, today when families hear the diagnosis of SMA, they can be hopeful for their child and family’s future because of the treatments available and the proven increase in quality of life with these treatments. Knowing how quality of life perspectives differ based on the type of treatment received can help in the education of parents of children with SMA.

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