Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: An extended study
Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: An extended study
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DOI：
10.1111/epi.13061
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发表时间：
2015-08-01
期刊：
影响因子：
5.6
通讯作者：
Duncan, Susan
中科院分区：
文献类型：
--
作者：
Iqbal, Nasur;Caswell, Helen;Duncan, Susan
目的在视频脑电图（video-EEG）条件下，比较青少年肌挛性癫痫（JME）患者的执行功能、智力、视觉空间技能、语言、记忆、注意力、反应时间、焦虑、抑郁以及与执行功能障碍最相关的情绪和行为特征。方法选取22对兄弟姐妹，其中1对患有JME，与44对年龄、性别、教育程度相匹配的对照组进行比较。所有参与者在进行和不进行视频脑电图记录时均进行了一套全面的神经心理学和问卷调查。结果JME组在语音和语义流畅性方面与对照组有显著差异。与兄弟姐妹和对照组相比，他们在执行能力障碍自评问卷上的得分明显更高，更有可能报告与执行能力障碍相关的特征。JME患者报告的情绪明显低于对照组和他们的兄弟姐妹。未受影响的兄弟姐妹在精神运动速度、语音流畅性和被其他人认为表现出与执行功能障碍相关的特征方面与对照组有显著差异。数据的定性检验表明，JME患者及其兄弟姐妹在大多数措施上的表现都比对照组差，这一趋势令人信服。本研究支持JME患者及其兄弟姐妹之间存在独特的神经心理学特征，这可能是由遗传决定的。JME患者与其兄弟姐妹之间的神经心理特征的相似性与抗癫痫药物作用或亚临床脑电图活动无关。兄弟姐妹和对照组之间的显著差异表明，JME存在神经认知内表型。
ObjectiveTo examine executive function, intelligence, visuospatial skills, language, memory, attention, reaction time, anxiety, depression, and emotional and behavioral traits most frequently associated with executive dysfunction in patients with juvenile myoclonic epilepsy (JME) compared with a sibling and a normal control group under video-electroencephalography (video-EEG) conditions.MethodsTwenty-two sibling pairs, one with JME, were compared with 44 controls matched for age, gender, and educational level. All participants were administered a comprehensive set of neuropsychological and questionnaire measures during and without video-EEG recording.ResultsThe JME group differed significantly from controls in measures of phonemic and semantic verbal fluency. They scored significantly higher on the dysexecutive self-rating questionnaire, being more likely to report traits associated with executive dysfunction than both siblings and controls. Patients with JME reported significantly low mood than both controls and their siblings. Unaffected siblings differed significantly from controls on psychomotor speed, phonemic verbal fluency and were considered to exhibit traits associated with executive dysfunction by others. Qualitative inspection of data suggested a convincing trend for patients with JME and their siblings to perform worse than controls on most measures.SignificanceThis study supports the existence of a distinct neuropsychological profile among patients with JME and their siblings, which is likely to be genetically determined. The similarity of neuropsychological profiles between JME patients and their siblings is independent of antiepileptic drug effects or subclinical EEG activity. The significant differences between the sibling and controls suggests that there is a neurocognitive endophenotype for JME.