@article{33390a5e66724184b94754f8c5b2ef25,
title = "Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism",
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.",
keywords = "behavior, inborn errors of metabolism, intellectual disability, outcome, quality of life",
author = "Mousumi Bose and Roullet, {Jean Baptiste} and Gibson, {K. Michael} and Rizzo, {William B.} and Mansur, {Hana M.} and Alice McConnell and Hoffman, {Carolyn A.} and DiBacco, {Melissa L.} and Pearl, {Phillip L.}",
note = "Funding Information: The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was supported by a Training and Career Development Award to MB (10 U54 DK 83916) from the Rare Disease Clinical Research Network, and the Sterol and Isoprenoid Research Consortium to WBR (U54 HD061939) of the National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and NIH. Funding Information: The authors would like to thank the SSADH Association and Speragen, Inc for their valuable guidance in the execution of this study, and Melisa J. Lopez for her assistance in preparing the manuscript for publication. The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was supported by a Training and Career Development Award to MB (10 U54 DK 83916) from the Rare Disease Clinical Research Network, and the Sterol and Isoprenoid Research Consortium to WBR (U54 HD061939) of the National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and NIH. Publisher Copyright: {\textcopyright} The Author(s) 2021.",
year = "2021",
month = nov,
doi = "10.1177/08830738211028388",
language = "English (US)",
volume = "36",
pages = "1223--1230",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "13-14",
}