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.

琥珀酸半醛脱氢酶缺乏症 (SSADHD) 是一种罕见的 GABA 代谢疾病，具有显着的神经发育发病率。尽管通过患者报告将生活质量概念作为罕见病临床试验中有意义的结果，人们对生活质量的概念越来越感兴趣，但从患者/家庭的角度来看，对 SSADHD 的整体影响知之甚少。本研究的目的是通过与 SSADHD 患者的家庭照顾者的焦点小组讨论来确定与生活质量和患者/家庭体验相关的问题。讨论包括 5 位家庭照顾者的意见，并强调了与身体功能、认知和智力功能、心理和行为功能、社会功能和家庭影响有关的问题。