Department of Neurology, Leiden University Medical Center, 2333 ZA, Leiden, the Netherlands.
Department of Clinical Neuropsychology, Leiden University Medical Center, 2333 ZA, Leiden, the Netherlands.
Arch Clin Neuropsychol. 2019 Nov 27;34(8):1320-1328. doi: 10.1093/arclin/acz002.
In Huntington's disease (HD), a hereditary neurodegenerative disorder, cognitive impairment in early disease stages mainly involves executive dysfunction. However, visual cognitive deficits have additionally been reported and are of clinical relevance given their influence on daily life and overall cognitive performance. This study aimed to assess visual perceptual skills in HD gene carriers.
Subtasks of the Visual Object and Space Perception battery and Groningen Intelligence Test were administered in 62 participants (18 healthy controls, 22 participants with a genetic confirmation of HD without symptoms, i.e., premanifest HD, and 22 participants with a genetic confirmation of HD with symptoms, i.e., manifest HD). Group differences in task performance were measured using analysis of covariance with and without correction for age. Receiver Operating Characteristics (ROC) analysis was performed to examine which task best discriminated between groups and cut-off scores were provided.
Manifest HD performed significantly worse compared to both controls and premanifest HD on all visual perceptional tasks. Premanifest HD did not differ in task performance from controls. Besides the Shape Detection, all tasks were robust in discriminating between groups. The Animal Silhouettes test was most accurate in discriminating manifest HD from premanifest HD (AUC = 0.90, SE = 0.048, p < .001).
Visual perceptual deficits are present in early manifest HD, especially an impaired recognition of animals and objects from sketched silhouettes, and not in premanifest HD. This suggests that decline in visual processing only occurs in clinical disease stages. The visual cognitive battery, especially the Silhouettes tasks used in this study is sensitive in discriminating manifest HD from premanifest HD and controls.
亨廷顿病（HD）是一种遗传性神经退行性疾病，早期疾病阶段的认知障碍主要涉及执行功能障碍。然而，已经报道了视觉认知缺陷，并且鉴于它们对日常生活和整体认知表现的影响，这些缺陷具有临床相关性。本研究旨在评估 HD 基因携带者的视觉感知技能。
在 62 名参与者（18 名健康对照、22 名无症状的遗传确认的 HD 参与者，即前显型 HD 和 22 名有症状的遗传确认的 HD 参与者）中进行了视觉物体和空间感知电池和格罗宁根智力测验的子任务。使用协方差分析测量任务表现的组间差异，并进行了年龄校正和未校正的分析。进行接收器操作特征（ROC）分析以检查哪些任务最能区分组间差异，并提供了截断分数。
与对照组和前显型 HD 相比，显型 HD 在所有视觉感知任务上的表现均显著更差。前显型 HD 在任务表现上与对照组没有差异。除了形状检测任务外，所有任务在区分组间差异方面都很稳健。动物剪影测试在区分显型 HD 和前显型 HD 方面最为准确（AUC = 0.90，SE = 0.048，p <.001）。
在早期显型 HD 中存在视觉感知缺陷，尤其是对草图剪影的动物和物体的识别受损，而在前显型 HD 中则没有。这表明视觉处理的下降仅发生在临床疾病阶段。视觉认知测试，特别是本研究中使用的剪影测试，在区分显型 HD 和前显型 HD 以及对照组方面具有敏感性。
