Willemse Ilse H J, Mellone Sabato, Tacconi Carlo, Ilg Winfried, Schüle Rebecca, Synofzik Matthis, Nonnekes Jorik H, van de Warrenburg Bart P C
Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Center of Expertise for Parkinson & Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Electrical, Electronic and Information Engineering "Guglielmo Marconi", University of Bologna, Bologna, Italy.
Cerebellum. 2025 Mar 24;24(3):71. doi: 10.1007/s12311-025-01820-3.
Effective trial-planning in Spastic ataxias (SPAX) is impeded by the absence of validated outcome measures for detecting longitudinal changes. Digital outcome measures show promise, demonstrating sensitivity to disease severity changes in ataxia and strong correlations with clinical scales. The objective of this study was to develop a smartphone application for SPAX (SPAX-app) to obtain valid digital outcome measures for use in clinical trials. The app contains four tasks assessing gait, standing balance (stance), and finger and hand movements. We carried out a validation study in 22 SPAX patients and 10 controls. Subjects performed the tasks three times during one visit. In parallel, we performed Ambulatory Parkinson's Disease Monitoring (APDM) sensor recordings, Q-motor upper limb assessment, and the Scale for the Assessment and Rating of Ataxia (SARA). Significant correlations were found between the SPAX-app and APDM or Q-motor for step time (r = 0.91), all measures of stance (r = 0.51-0.87) and duration of hand alternation (r = 0.64). No significant correlations were found for variability measures (e.g. standard deviation of step time). All tasks of the SPAX-app, except for stance, can discriminate SPAX from controls and show moderate to high test-retest reliability (ICC 0.67-0.97). Significant correlations were found between SARA and step time (r = 0.70), inter-onset interval in finger tapping (r = 0.57), and duration of hand alternation (r = 0.65). The stance task did not show significant correlations with SARA. With the SPAX-app, we present a set of digital outcome measures for potential use in clinical trials. Longitudinal studies are needed to evaluate whether these measures can track disease progression.
由于缺乏用于检测纵向变化的经过验证的结局指标，痉挛性共济失调（SPAX）的有效试验规划受到阻碍。数字结局指标显示出前景，对共济失调疾病严重程度的变化具有敏感性，并且与临床量表有很强的相关性。本研究的目的是开发一款用于SPAX的智能手机应用程序（SPAX-app），以获得可用于临床试验的有效数字结局指标。该应用程序包含四项任务，用于评估步态、站立平衡（姿势）以及手指和手部运动。我们对22名SPAX患者和10名对照进行了一项验证研究。受试者在一次就诊期间对这些任务进行了三次执行。同时，我们进行了动态帕金森病监测（APDM）传感器记录、Q-运动上肢评估以及共济失调评估与分级量表（SARA）。在SPAX-app与APDM或Q-运动之间，发现步时（r = 0.91）、所有姿势测量指标（r = 0.51 - 0.87）和手部交替持续时间（r = 0.64）之间存在显著相关性。在变异性测量指标（如步时标准差）方面未发现显著相关性。除姿势任务外，SPAX-app的所有任务都能区分SPAX患者与对照组，并且显示出中度到高度的重测信度（ICC 0.67 - 0.97）。在SARA与步时（r = 0.70）、手指敲击的发作间期（r = 0.57）以及手部交替持续时间（r = 0.65）之间发现了显著相关性。姿势任务与SARA未显示出显著相关性。通过SPAX-app，我们提供了一组可用于临床试验的数字结局指标。需要进行纵向研究来评估这些指标是否能够跟踪疾病进展。
