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在使用Enroll-HD数据集的亨廷顿病中神经认知障碍的患病率

Luis A Sierra¹, Clementina J Ullman¹, Clara Baselga-Garriga²

¹Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, United States.

Frontiers in neurology

|July 31, 2023

概括

亨廷顿病 (HD) 的认知能力下降甚至在诊断之前也是常见的. 神经认知障碍 (NCD) 标准显示,在预先显现和显现的疾病发病阶段有显著的损伤,突出了早期干预的需要.

科学领域:

神经学神经学
神经科学是一个神经科学.
遗传学是一个遗传学.

背景情况:

亨廷顿病 (HD) 的认知衰退是早期和显著的特征.
以前对HD认知障碍的估计因不同的诊断方法而有所不同.
对神经认知障碍 (NCD) 的标准化DSM-5标准现在被推用于HD.

研究的目的:

用NCD标准评估亨廷顿病 (HD) 认知障碍的流行程度和严重程度.
分析HD前显现阶段 (preHD) 和HD显现阶段的认知障碍.
将NCD标准应用于Enroll-HD数据库中的数据.

主要方法:

来自Enroll-HD的参与者被分为预先显现的HD (预先显现的HD近/远),显现的HD和对照组.
在Premanifest HD之前,根据使用缩放的CAG-age产品分数 (CAPs) 来预测诊断的预测时间进行了分层.
神经认知障碍 (NCD) 患病率 (轻度和重度) 通过认知和功能性测量来确定.

主要成果:

轻度的NCD患病率在HD前和明显的HD组中从11.5%到47.3%不等.
主要非传染性疾病的患病率在明显的HD中明显较高 (21.1%-57.7%) 和在HD前存在 (0.5%-16.3%).
在HD前的临近组中,认知障碍显著增加,这表明在诊断前的急剧增加.

结论:

神经认知障碍 (NCD) 在亨廷顿病 (HD) 的前显现和显现阶段都很普遍.
随着个人在表现前阶段接近诊断,非传染性疾病的大量增加发生.
这些发现支持了早期临床护理和主动规划需要的HD支持服务.

关键词:

在DSM-5中,亨廷顿病是亨廷顿氏病的一种疾病.认知认知认知神经认知障碍 (NCD) 是一种神经认知障碍.预发动机说明书预发动机说明书

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