Xiong Emily, Lynch Abigail E, Corben Louise A, Delatycki Martin B, Subramony S H, Bushara Khalaf, Gomez Christopher M, Hoyle J Chad, Yoon Grace, Ravina Bernard, Mathews Katherine D, Wilmot George, Zesiewicz Theresa, Susan Perlman M, Farmer Jennifer M, Rummey Christian, Lynch David R
Division of Neurology, Children's Hospital of Philadelphia, 502 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104-4318, United States of America.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville 3052, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville 3052, Victoria, Australia.
J Neurol Sci. 2020 Mar 15;410:116642. doi: 10.1016/j.jns.2019.116642. Epub 2019 Dec 24.
This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires.
The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to individuals with FRDA and analyzed by comparison with disease features. Multiple linear regression models were used to study independent effects of genetic severity and age. Assessments were performed at baseline then intermittently after that.
Subjects were on average young adults. For the SF36, the subscale with the lowest HRQOL score was the physical function scale, while the emotional well-being score was the highest. The physical function scale correlated with age of onset, duration, and subject age. In assessment of symptom specific scales, bladder control scores (BLCS) correlated with duration and age, while impact of visual impairment scores (IVIS) correlated with duration. In linear regression models, the BLCS, Pain Effect Score, and IVIS scores were predicted by age and GAA length; modified fatigue impact scale scores were predicted only by GAA length. Physical function and role limitation scores declined over time. No change was seen over time in other SF-36 subscores. Symptom specific scales also worsened over time, most notably the IVIS and BLCS.
The SF-36 and symptom specific scales capture dysfunction in FRDA in a manner that reflects disease status. HRQOL dysfunction was greatest on physically related scales; such scales correlated with disease duration, indicating that they worsen with progressing disease.
本研究通过对健康相关生活质量（HRQOL）问卷的回答，评估了弗里德赖希共济失调（FRDA）患者的健康相关生活质量。
向FRDA患者发放通用的HRQOL工具SF-36以及检查视力、疲劳、疼痛和膀胱功能的症状特异性量表，并与疾病特征进行比较分析。使用多元线性回归模型研究基因严重程度和年龄的独立影响。在基线时进行评估，之后间歇性评估。
受试者平均为年轻成年人。对于SF36，HRQOL得分最低的子量表是身体功能量表，而情感幸福得分最高。身体功能量表与发病年龄、病程和受试者年龄相关。在症状特异性量表评估中，膀胱控制得分（BLCS）与病程和年龄相关，而视力损害影响得分（IVIS）与病程相关。在线性回归模型中，BLCS、疼痛效应得分和IVIS得分由年龄和GAA长度预测；改良疲劳影响量表得分仅由GAA长度预测。身体功能和角色限制得分随时间下降。其他SF-36子得分随时间未见变化。症状特异性量表也随时间恶化，最明显的是IVIS和BLCS。
SF-36和症状特异性量表以反映疾病状态的方式捕捉了FRDA中的功能障碍。HRQOL功能障碍在与身体相关的量表上最为严重；此类量表与疾病持续时间相关，表明它们随疾病进展而恶化。
