Baake Verena, van Duijn Erik, Roos Raymund A C
From the Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands (VB, RACR); the Huntington Center Topaz Overduin, Katwijk, the Netherlands (VB); the Department of Psychiatry, Leiden University Medical Center, Leiden, the Netherlands (EvD); and the Mental Health Care Centre Delfland, Delft, the Netherlands (EvD).
J Neuropsychiatry Clin Neurosci. 2018 Summer;30(3):183-187. doi: 10.1176/appi.neuropsych.18020031. Epub 2018 May 30.
Huntington's disease is characterized by motor and behavioral symptoms as well as cognitive decline. Apathy is a common behavioral symptom, and its severity is related to disease progression. It has been suggested that Huntington's disease gene expansion carriers (HDGECs) are unaware of the signs and symptoms of the disease, which may account for their own level of awareness of their apathy. Therefore, the authors investigated the level of agreement on the degree of apathy severity between HDGECs and their proxies by using a self-report questionnaire. A total of 109 REGISTRY participants (premotormanifest, N=31; early motormanifest, N=49; and late motormanifest, N=29) and their proxies completed the Apathy Evaluation Scale. The authors used the Wilcoxon signed-rank test to assess whether gene expansion carriers and their proxies agreed on apathy severity. Scores on the Apathy Evaluation Scale significantly increased from the early motormanifest stage to the late motormanifest stage. Premotormanifest carriers scored themselves significantly higher on the Apathy Evaluation Scale than their proxies, whereas no differences were found between all motormanifest carriers and their proxies. Apathy severity increases in the motormanifest stages of Huntington's disease. HDGECs can adequately assess their level of apathy on a self-report questionnaire. These results also suggest that slight changes in the degree of apathy among premotormanifest gene expansion carriers remain unnoticed by their proxies.
亨廷顿舞蹈症的特征是出现运动和行为症状以及认知能力下降。冷漠是一种常见的行为症状，其严重程度与疾病进展有关。有人提出，亨廷顿舞蹈症基因扩增携带者（HDGECs）并未意识到该疾病的体征和症状，这可能解释了他们对自身冷漠程度的认知水平。因此，作者通过使用一份自我报告问卷，调查了HDGECs与其代理人在冷漠严重程度上的一致程度。共有109名登记参与者（运动前期表现型，N = 31；运动早期表现型，N = 49；运动晚期表现型，N = 29）及其代理人完成了冷漠评估量表。作者使用威尔科克森符号秩检验来评估基因扩增携带者与其代理人在冷漠严重程度上是否一致。冷漠评估量表的得分从运动早期表现型阶段到运动晚期表现型阶段显著增加。运动前期表现型携带者在冷漠评估量表上给自己的评分显著高于其代理人，而在所有运动表现型携带者与其代理人之间未发现差异。在亨廷顿舞蹈症的运动表现型阶段，冷漠严重程度增加。HDGECs能够通过自我报告问卷充分评估自身的冷漠程度。这些结果还表明，运动前期表现型基因扩增携带者冷漠程度的轻微变化未被其代理人注意到。
