Predictors of diagnosis in Huntington disease
Predictors of diagnosis in Huntington disease
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DOI：
10.1212/01.wnl.0000261918.90053.96
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发表时间：
2007-05-15
期刊：
影响因子：
9.9
通讯作者：
Paulsen, Jane S.
中科院分区：
文献类型：
--
作者：
Langbehn, Douglas R.;Paulsen, Jane S.
目的：亨廷顿病（HD）的细微体征和症状往往在损伤达到神经系统疾病明显的程度之前就存在，必须考虑诊断。目的是研究这些早期临床体征和症状在明确临床HD诊断前的预后意义。研究方法：我们分析了来自亨廷顿研究组数据库中218名有风险但健康的参与者的纵向数据，这些参与者在第一次观察时具有正常的运动检查结果或最小的软运动体征。该组在HD诊所定期随访长达4.5年。我们使用生存分析来检查HD诊断时间的预测因素。结果：使用统一亨廷顿氏病评定量表中的特定、非冗余项目，诊断预测显著提高。当运动障碍专家最初对“软体征”的总体印象存在时，累积相对诊断风险在1.5年随访时为4.68倍，3年时为3.58倍。一个神经心理学测试模式与心理速度1 SD差于语义知识措施增加累积风险的1.99倍，在1.5年和1.81在3年。最后，各种主观HD症状的报告使3年相对风险增加2.6至3.4。结论：研究结果表明，神经心理学的表现和临床医生的评级和运动困难的患者的主观感受有助于非冗余的预测亨廷顿病的诊断。这些发现可能对高危人群的预后评估产生影响，并最终有助于早期干预。
Objective: Subtle signs and symptoms of Huntington disease (HD) are often present before impairments reach a point where the neurologic disease is manifest and a diagnosis must be considered. The objective is to examine the prognostic significance of these early clinical signs and symptoms regarding time until unequivocal clinical HD diagnosis. Methods: We analyzed longitudinal data from 218 at-risk but healthy participants in the Huntington Study Group database who had either normal motor examination results or minimal soft motor signs at first observation. This group was followed periodically in HD clinics for up to 4.5 years. We used survival analysis to examine predictors of time until HD diagnosis. Results: Diagnostic prediction was significantly improved using specific, nonredundant items from the Unified Huntington's Disease Rating Scale. When a movement disorder specialist initially had a global impression of "soft signs" present, cumulative relative risk of diagnosis was 4.68 times greater at 1.5 years of follow-up and 3.58 at 3 years. A neuropsychological test pattern with psychomotor speed 1 SD worse than a semantic knowledge measure increased cumulative risk by 1.99 times at 1.5 years and 1.81 at 3 years. Finally, reports of various subjective HD symptoms increased 3-year relative risk by 2.6 to 3.4. Conclusions: Findings demonstrate that neuropsychological performance and both the clinician rating and the patient subjective perception of motor difficulties contribute nonredundantly to a prediction of Huntington disease diagnosis. These findings may have implications for prognostic assessment of persons at risk and eventually assist with early interventions.