Lynch D R, Farmer J M, Tsou A Y, Perlman S, Subramony S H, Gomez C M, Ashizawa T, Wilmot G R, Wilson R B, Balcer L J
Department of Neurology, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia, PA 19104-4318, USA.
Neurology. 2006 Jun 13;66(11):1711-6. doi: 10.1212/01.wnl.0000218155.46739.90.
To examine the potential validity of performance measures and examination-based scales in Friedreich ataxia (FA) by examining their correlation with disease characteristics.
The authors assessed the properties of a candidate clinical outcome measure, the Friedreich Ataxia Rating Scale (FARS), and simple performance measures (9-hole peg test, the timed 25-foot walk, PATA test, and low-contrast letter acuity) in 155 patients with FA from six institutions, and correlated the scores with disease duration, functional disability, activity of daily living scores, age, and shorter GAA repeat length to assess whether these measures capture the severity of neurologic dysfunction in FA.
Scores for the FARS and performance measures correlated significantly with functional disability, activities of daily living scores, and disease duration, showing that these measures meet essential criteria for construct validity for measuring the progressive nature of FA. In addition, the FARS and transformed performance measures scores were predicted by age and shorter GAA repeat length in linear regression models accounting for sex and testing site. Correlations between performance measures were moderate in magnitude, suggesting that each test captures separate yet related dimensions of neurologic function in FA and that a composite measure might better predict disease status. Composite measures created using cohort means and standard deviations predicted disease status better than or equal to single performance measures or examination-based measures.
The Friedreich Ataxia Rating Scale, performance measures, and performance measure composites provide valid assessments of disease progression in Friedreich ataxia.
通过研究性能指标和基于检查的量表与疾病特征的相关性，检验其在弗里德赖希共济失调（FA）中的潜在有效性。
作者评估了一项候选临床结局指标——弗里德赖希共济失调评定量表（FARS）以及简单性能指标（9孔插钉试验、25英尺定时步行、PATA试验和低对比度字母视力）在来自六个机构的155例FA患者中的特性，并将分数与疾病持续时间、功能残疾、日常生活活动评分、年龄和较短的GAA重复长度进行关联，以评估这些指标是否能反映FA患者神经功能障碍的严重程度。
FARS和性能指标的分数与功能残疾、日常生活活动评分和疾病持续时间显著相关，表明这些指标符合测量FA进展性的结构效度的基本标准。此外，在考虑性别和检测地点的线性回归模型中，FARS和转换后的性能指标分数可由年龄和较短的GAA重复长度预测。性能指标之间的相关性中等，表明每项测试都能反映FA神经功能的不同但相关的维度，综合指标可能能更好地预测疾病状态。使用队列均值和标准差创建的综合指标在预测疾病状态方面优于或等同于单一性能指标或基于检查的指标。
弗里德赖希共济失调评定量表、性能指标和性能指标综合指标能有效评估弗里德赖希共济失调的疾病进展。
