Department of Neurology, RWTH Aachen University, 52074, Aachen, Germany.
JARA Brain Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich and RWTH Aachen University, 52056, Aachen, Germany.
Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z.
We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations of 602 patients with genetically confirmed FRDA was included. Clinical instruments and important symptoms of FRDA were identified as targets for prediction, while variables such as genetics, age of disease onset and first symptom of the disease were used as predictors. We used modelling techniques including generalised linear models, support-vector-machines and decision trees. The scale for rating and assessment of ataxia (SARA) and the activities of daily living (ADL) could be predicted with predictive errors quantified by root-mean-squared-errors (RMSE) of 6.49 and 5.83, respectively. Also, we were able to achieve reasonable performance for loss of ambulation (ROC-AUC score of 0.83). However, predictions for the SCA functional assessment (SCAFI) and presence of cardiological symptoms were difficult. In conclusion, we demonstrate that some clinical features of FRDA can be predicted with reasonable error; being a first step towards future clinical applications of predictive modelling. In contrast, targets where predictions were difficult raise the question whether there are yet unknown variables driving the clinical phenotype of FRDA.
我们探讨了能否通过临床检查数据预测弗里德赖希共济失调症的严重程度。从欧洲弗里德赖希共济失调症转化研究联合会(EFACTS)数据库中纳入了 602 名经基因确诊的 FRDA 患者的多达五次检查的数据。将 FRDA 的临床仪器和重要症状确定为预测目标,而遗传、疾病发病年龄和首发症状等变量则作为预测因子。我们使用了包括广义线性模型、支持向量机和决策树在内的建模技术。对评级和共济失调评估量表(SARA)和日常生活活动(ADL)的预测,其预测误差的均方根误差(RMSE)分别为 6.49 和 5.83。此外,我们还能够实现合理的运动丧失预测(SCAFI 的 ROC-AUC 评分为 0.83)。然而,对于 SCA 功能评估(SCAFI)和心脏病症状的预测则较为困难。总之,我们证明了一些 FRDA 的临床特征可以通过合理的误差进行预测;这是未来预测模型临床应用的第一步。相比之下,预测难度较大的目标提出了一个问题,即是否存在未知的变量在驱动 FRDA 的临床表型。