采用患者报告的共济失调结局量表测量脊髓小脑共济失调的进展。

Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.

作者信息

Burt Anna L, L'Italien Gilbert, Perlman Susan L, Rosenthal Liana S, Kuo Sheng-Han, Ashizawa Tetsuo, Zesiewicz Theresa, Dietiker Cameron, Opal Puneet, Duquette Antoine, Wilmot George R, Shakkottai Vikram G, Gomez Christopher M, Srinivasan Sharan R, Paulson Henry, Geschwind Michael D, Worley Sandie, Onyike Chiadi U, Billnitzer Andrew, Ferng Amy, Matulis Kristen, Davis Marie Y, Subramony Sub H, Gupta Anoopum, Stephen Christopher D, Schmahmann Jeremy D

机构信息

Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Biohaven Pharmaceuticals, New Haven, Connecticut, USA.

出版信息

Mov Disord. 2025 May;40(5):917-927. doi: 10.1002/mds.30158. Epub 2025 Mar 4.

DOI:10.1002/mds.30158

PMID:40035484

Abstract

BACKGROUND

The Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) has been validated cross-sectionally but not longitudinally.

OBJECTIVE

We aimed to validate PROM-Ataxia as a measure of patient experience of disease over time, examine overall and domain-specific progression, and test convergent validity with other clinical outcome assessments (COAs).

METHODS

We derived PROM-Ataxia data from 176 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for the Study of Cerebellar Ataxia at baseline and 1 year. We classified patients' ataxia severity stage ("severity") according to the Friedreich's Ataxia Rating Scale Functional Staging into mild, moderate, and severe subgroups. Analyses of the entire cohort and by severity subgroup included internal consistency, sensitivity to disease severity, predictive modeling of score changes, correlations with COAs: Brief Ataxia Rating Scale, Scale for Assessment and Rating of Ataxia, Fatigue Severity Scale, Cerebellar Cognitive Affective Syndrome scale, EuroQol 5-Dimension, and responsiveness to disease progression.

RESULTS

The PROM-Ataxia exhibited high internal consistency and correlated with other COAs. Scores demonstrated sensitivity to disease severity and evolving patient experience. Progression was sigmoidal, with the greatest change in moderate patients. Compared with other COAs, PROM-Ataxia captured the most change. Mental features worsened fastest in mild patients, physical in moderate patients, and activities of daily living in severe patients.

CONCLUSION

PROM-Ataxia is more sensitive to change than ataxia COAs, captures the evolution of patients' experience of disease over 1 year, and reveals domain-specific progression. Studies of larger cohorts and different ataxia diagnoses over longer periods may provide insights to further enhance clinical care and research. © 2025 International Parkinson and Movement Disorder Society.

摘要

背景

患者报告的共济失调结局量表（PROM-共济失调）已通过横断面验证，但未经过纵向验证。

目的

我们旨在验证PROM-共济失调作为衡量患者随时间推移疾病体验的指标，检查整体和特定领域的进展情况，并与其他临床结局评估（COA）进行收敛效度测试。

方法

我们从小脑共济失调研究临床研究联盟中176例患有1型、2型、3型、6型、7型、8型或10型脊髓小脑共济失调的患者中获取了基线和1年时的PROM-共济失调数据。我们根据弗里德赖希共济失调评定量表功能分期将患者的共济失调严重程度阶段（“严重程度”）分为轻度、中度和重度亚组。对整个队列以及按严重程度亚组进行的分析包括内部一致性、对疾病严重程度的敏感性、评分变化的预测模型、与COA的相关性：简易共济失调评定量表、共济失调评估与评分量表、疲劳严重程度量表、小脑认知情感综合征量表、欧洲五维健康量表，以及对疾病进展的反应性。