NEUROPSYCHOLOGICAL EVALUATION OF PSYCHIATRIC AND NEUROLOGICAL PATIENTS

在过去的三年中，这项工作的主要重点是比较癫痫发作患者（全身性和局灶性）与他们的一级亲属的神经心理学测试概况。在早期的一项研究中，12个家庭的先证者被诊断为儿童失神癫痫（CAE），结果表明，母亲，但不是患者的父亲共享轻度形式的一些行为障碍，在先证者中看到的（Levav，1991）。这在持续注意力的测试中是明显的（持续表现测试，CPT; Rosvold等人，1956年）。这一结果与先前关于该疾病遗传的研究一致。在本研究中，我们评估了先证者和他们的健康一级亲属，以及健康对照对，在他们的表现神经心理测试。我们评估了与青少年肌阵挛性癫痫（JME），颞叶癫痫（TLE）和儿童失神癫痫（CAE）的先证者亲属对。注意力，记忆力和解决问题的行为进行了研究，以评估可能的认知特征的家族聚集。到目前为止的分析表明，有一个强大的家族聚集的特征与控制冲动和警惕性的持续注意力的任务，特别是在JME家庭。这在TLE家族中未见，在CAE家族中仅在一定程度上。我们目前正在与有兴趣定位与JME相关的癫痫基因的遗传学家合作-最有可能包括染色体6p上的位置21.3-并且他们的工作是利用我们自己的神经心理学数据很好地识别JME的表型。- 癫痫，注意力障碍，遗传学，染色体6p -人类受试者

During the past three years, the main thrust of this work has involved a comparison of the neuropsychological test profiles of patients with seizure disorders (generalized as well as focal) with those of their first-degree relatives. In an earlier study of 12 families with probands diagnosed with childhood absence epilepsy (CAE), the results indicated that the mothers, but not the fathers of the patients share in mild form some of the behavioral impairment seen in the probands (Levav, 1991). This was evident in tests of sustained attention (the Continuous Performance Test, CPT; Rosvold et al., 1956). This result is consistent with prior research on the inheritance of the disorder. In the present study we assessed probands and their healthy first degree relatives, as well as healthy control pairs, in their performance on neuropsychological tests. We assessed proband-relative pairs with Juvenile Myoclonic Epilepsy (JME), Temporal Lobe Epilepsy (TLE) and Childhood Absence Epilepsy (CAE). Attention, memory and problem-solving behavior were studied in order to evaluate possible familial aggregation of cognitive traits. The analysis thus far indicates that there is a strong familial aggregation of traits associated with control of impulsivity and vigilance in the sustained attention tasks, seen especially in the JME families. This was not seen in the TLE families, and only to a modest extent in the CAE families. We are currently collaborating with geneticists who are interested in localizing the epilepsy gene associated with JME--most likely including location 21.3 on chromosome 6p--and whose work on identifying the phenotype of JME dovetails well with our own neuropsychological data. - epilepsy, attention impairment, genetics, chromosome 6p - Human Subjects