OBJECTIVES To describe the characteristics of patients receiving a clinical referral for neuropsychological evaluation in two Huntington's Disease Society of America Centers of Excellence (HDSA COE). In this exploratory pilot study, we used an empirically supported clinical neuropsychological battery to assess differences in cognitive performance between premanifest and manifest HD patient groups (compared with each other and normative expectations). METHOD Clinical data from 76 adult genetically confirmed patients referred for neuropsychological evaluations was retrospectively collected from two HDSA COEs. ANOVA and Chi-square tests were used to compare variables between pre-manifest (n = 14) and manifest (n = 62) groups for demographic, cognitive, neuropsychiatric, and disease severity variables. RESULTS Our clinics serviced a disproportionate number of motor manifest patients. Six measures were excluded from analyses due to infrequent administration. The full WAIS-IV Digit Span was disproportionately administered to the manifest group. The premanifest group showed stronger cognitive performance with effect sizes in the large range on subtests of the WAIS-IV Digit Span, HVLT-R, SDMT, and verbal fluency. CONCLUSIONS This is the first study to assess an empirically supported neuropsychological research battery in a clinical setting with a relatively large sample size given the rarity of HD. The battery adequately captured areas of impairment across the disease spectrum. Application of the current battery with larger premanifest samples is warranted.

中文翻译：

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两个亨廷顿病卓越中心诊所神经心理学表现的探索性试点研究。

目的 描述在两个美国亨廷顿病协会卓越中心 (HDSA COE) 接受临床转诊进行神经心理学评估的患者的特征。在这项探索性试点研究中，我们使用经验支持的临床神经心理学电池来评估HD患者组之间认知表现的差异（相互比较和规范期望）。方法 从两个 HDSA COE 回顾性收集 76 名转诊进行神经心理学评估的成人基因确诊患者的临床数据。使用方差分析和卡方检验来比较症状前组 (n = 14) 和症状组 (n = 62) 之间的人口统计学、认知、神经精神和疾病严重程度变量。结果 我们的诊所为大量有运动症状的患者提供服务。由于管理不频繁，六项措施被排除在分析之外。完整的 WAIS-IV 数字跨度不成比例地分配给清单组。预显组表现出更强的认知表现，在 WAIS-IV 数字跨度、HVLT-R、SDMT 和言语流利度的子测试中效果大小范围很大。结论 这是第一项在临床环境中评估经验支持的神经心理学研究组的研究，鉴于 HD 的罕见性，样本量相对较大。该电池充分捕捉了整个疾病谱系中的损伤区域。目前的电池与较大的预清单样品的应用是有保证的。