NEUROPSYCHOLOGICAL EVALUATION OF PSYCHIATRIC AND NEUROLOGICAL PATIENTS

在过去的四年里，这项工作的主要重点是对癫痫患者（广泛性和局灶性）及其一级亲属的神经心理测试概况进行比较。在早期的一项研究中，有12个先证者被诊断患有儿童缺乏性癫痫（CAE），结果表明，患者的母亲，而不是父亲，以轻微的形式分享了先证者的一些行为障碍（Levav, 1991）。这在持续注意力的测试中很明显（持续表现测试，CPT; Rosvold et al., 1956）。这一结果与先前对该疾病遗传的研究一致。在本研究中，我们评估了另外60个家庭的先证者及其健康的一级亲属，以及健康的对照对，他们在神经心理测试中的表现。我们评估了青少年肌阵挛性癫痫（JME）、颞叶癫痫（TLE）和儿童缺失性癫痫（CAE）的先证者亲属对。研究了注意力、记忆和问题解决行为，以评估认知特征可能的家族聚集性。到目前为止的分析表明，在持续注意力任务中，与控制冲动和警惕性相关的特征有很强的家族聚集性，特别是在JME家族中。这种情况在TLE家族中未见，在CAE家族中也有一定程度的差异。这项工作已提交出版。我们目前正在与遗传学家合作，他们对定位与JME相关的癫痫基因感兴趣——很可能包括6p染色体上的21.3号位置——他们在确定JME表型方面的工作与我们自己的神经心理学数据非常吻合。在与约翰霍普金斯大学的同事合作进行的另一项研究中，我们发现，用K射线技术测量的骨铅含量与持续注意力持续表现测试的分数之间存在高度显著的相关性。这些发现是基于对市中心年轻人的研究。

During the past four 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 in an additional 60 families, 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 JME families. This was not seen in the TLE families, and only to a modest extent in the CAE families. This work has been submitted for publication. 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. In another study conducted in collaboration with colleagues at Johns Hopkins, we have found highly significant correlations between assays of bone lead, as measured by the K X-ray technique, and scores on the Continuous Performance Test of sustained attention. These findings were based on studies of an inner-city population of young adults.