ARAMIS, Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), Institut national de recherche en sciences et technologies du numérique (INRIA), Institut national de la santé et de la recherche médicale (INSERM), Assistance Publique - Hôpitaux de Paris, Groupe Hospitalier Sorbonne Université, Paris, France (C.D.F., J.A., S.T.d.M.).
Centre de Référence pour les maladies vasculaires rares du cerveau et de l'œil and Centre Neurovascular Translationnel, Paris, France (A.J., S.R., C.M., S.G., D.H., F.F., H.C.).
Stroke. 2024 Oct;55(10):2439-2448. doi: 10.1161/STROKEAHA.124.047692. Epub 2024 Sep 5.
Cerebral small vessel disease (cSVD) of ischemic type, either sporadic or genetic, as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), can impact the quality of daily life on various cognitive, motor, emotional, or behavioral aspects. No instrument has been developed to measure these outcomes from the patient's perspective. We thus aimed to develop and validate a patient-reported questionnaire.
In a development study, 79 items were generated by consensus between patients, family representatives, and cSVD experts. A first sample of patients allowed assessing the feasibility (missing data, floor and ceiling effect, and acceptability), internal consistency, and dimensionality of a first set of items. Thereafter, in a validation study, we tested a reduced version of the item set in a larger sample to assess the feasibility, internal consistency, dimensionality, test-retest reliability, concurrent validity, and sensitivity to change.
The scale was developed in 44 patients with cSVD and validated in a second sample of 89 individuals (including 43 patients with CADASIL and 46 with another cSVD). The final CADASIL Patient-Reported Outcome scale comprised 18 items covering 4 categories of consequences (depression/anxiety, attention/executive functions, motor, and daily activities) of the disease. The proportion of missing data was low, and no item displayed a major floor or ceiling effect. Both the internal consistency and test-retest reliability were good (Cronbach alpha=0.95, intraclass correlation coefficient=0.88). In patients with CADASIL, CADASIL Patient-Reported Outcome scores correlated with the modified Rankin Scale, Starkstein Apathy Scale, Hospital Anxiety and Depression scale, Working Memory Index, and trail making test times. In patients with other cSVDs, CADASIL Patient-Reported Outcome correlated only with Hospital Anxiety and Depression scale and Starkstein Apathy Scale.
The CADASIL Patient-Reported Outcome may be an innovative instrument for measuring patient-reported outcomes in future cSVD trials. Full validation was obtained for its use in patients with CADASIL, but further improvement is needed for its application in other cSVDs.
缺血性脑小血管病（cSVD），无论是散发性还是遗传性的，如伴有皮质下梗死和白质脑病的常染色体显性脑动脉病（CADASIL），都会对认知、运动、情感或行为等各个方面的日常生活质量产生影响。目前还没有用于从患者角度测量这些结果的工具。因此，我们旨在开发和验证一种患者报告的问卷。
在一项开发研究中，通过患者、家属代表和 cSVD 专家的共识生成了 79 个项目。第一组患者样本用于评估初步设置项目的可行性（缺失数据、下限和上限效应以及可接受性）、内部一致性和维度。此后，在一项验证研究中，我们在更大的样本中测试了项目集的简化版本，以评估可行性、内部一致性、维度、测试-重测可靠性、同时效度和对变化的敏感性。
该量表在 44 例 cSVD 患者中进行了开发，并在第二组 89 例患者（包括 43 例 CADASIL 患者和 46 例其他 cSVD 患者）中进行了验证。最终的 CADASIL 患者报告结局量表由 18 个项目组成，涵盖疾病的 4 个后果类别（抑郁/焦虑、注意力/执行功能、运动和日常活动）。缺失数据的比例较低，没有项目显示出主要的下限或上限效应。内部一致性和测试-重测可靠性均良好（克朗巴赫α=0.95，组内相关系数=0.88）。在 CADASIL 患者中，CADASIL 患者报告结局评分与改良 Rankin 量表、Starkstein 淡漠量表、医院焦虑和抑郁量表、工作记忆指数和轨迹生成测试时间相关。在其他 cSVD 患者中，CADASIL 患者报告结局仅与医院焦虑和抑郁量表和 Starkstein 淡漠量表相关。
CADASIL 患者报告结局可能是未来 cSVD 试验中衡量患者报告结局的创新工具。已获得其在 CADASIL 患者中使用的充分验证，但在其他 cSVD 中的应用还需要进一步改进。
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