Document Type
Preprint
Publication Date
11-1-2021
Journal / Book Title
Journal of Child Neurology
Abstract
Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although there is a growing interest in the concept of quality of life through patient reports as a meaningful outcome in rare disease clinical trials, little is known about the overall impact of SSADHD from the patient/family perspective. The purpose of this study was to determine issues related to quality of life and patient/family experience through a focus group discussion with family caregivers of patients with SSADHD. The discussion included the input of 5 family caregivers, and highlighted concerns related to physical function, cognitive and intellectual function, psychological and behavioral function, social function, and family impact. These themes represent appropriate starting points in the development of a quality-of-life survey that may serve as a meaningful clinical tool in future studies of SSADHD.
DOI
10.1177/08830738211028388
MSU Digital Commons Citation
Bose, Mousumi; Roullet, Jean Baptiste; Gibson, K. Michael; Rizzo, William B.; Mansur, Hana M.; McConnell, Alice; Hoffman, Carolyn A.; DiBacco, Melissa L.; and Pearl, Phillip L., "Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism" (2021). Department of Nutrition and Food Studies Scholarship and Creative Works. 155.
https://digitalcommons.montclair.edu/nutr-foodstudies-facpubs/155
Comments
Author manuscript; available in PMC 2021 December 11. Published in final edited form as: J Child Neurol. ; : 8830738211028388. doi:10.1177/08830738211028388.