Background: Spinal muscular atrophy (SMA) is a chronic genetic disease that causes varying degrees of disability. There is currently no data specific to the health-related quality of life (HRQoL) of Thai children and adolescents with SMA. Accordingly, this study aimed to evaluate the HRQoL of Thai pediatric SMA, and to identify factors significantly associated with HRQoL and other aspects of quality of life. The findings of this study will help to improve overall care in this vulnerable pediatric population.

Methods: This prospective cross-sectional descriptive study was conducted at the Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand during 2015-2018. HRQoL was measured using the Thai language version of the Pediatric Quality of Life Inventory™ 4.0 Generic Core Scale (PedsQL™). The PedsQL™ was administered to SMA children aged 2-18 years and their parents. Disease severity was evaluated by pediatric neurologists, and patients were classified according to their SMA subtype.

Results: Forty-two Thai pediatric SMA (mean age: 9.8 ± 5.0 years, 25 males) and their families were recruited. The mean PedsQL™ total score was 57.3 ± 13.6 by child self-report, and 54.3 ± 14.8 by parent proxy-report. The PedsQL™ scores of Thai SMA children were found to be significantly lower than those reported in healthy Thai children. The mean PedsQL™ total score among healthy Thai children was 78.7 ± 9.3 by child self-report, and 79.0 ± 12.8 by parent proxy-report. Factors independently associated with lower HRQoL were non-ambulation, household income less than 18,500 Thai baht/month, mechanical ventilation, and inability to attend school.

Conclusion: HRQoL score was found to be an accurate reflection of patient and parent perception of SMA, which suggests the value of this tool for prioritizing interventions to improve the quality of life of Thai SMA. The results of this study also provide a baseline measurement of quality of life among Thai SMA.