Neuropsychological Evaluation Of Psychiatric And Neurolo

在过去的四年里，这项工作的主旨是比较癫痫障碍患者(全身性和局灶性)的神经心理测试特征与他们的一级亲属的神经心理测试特征。在早期对12个被诊断为儿童失神癫痫(CAE)的先证者家庭的研究中，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)。这在持续注意的测试中是显而易见的(持续表现测试，CPT；Rosvold等人，1956)。这一结果与先前关于该疾病遗传的研究一致。在这项研究中，我们评估了另外60个家庭的先证者及其健康的一级亲属，以及健康的对照配对，他们在神经心理测试中的表现。我们评估了青少年肌阵挛癫痫(JME)、颞叶癫痫(TLE)和儿童失神癫痫(CAE)的先证者-亲属对。研究人员对注意力、记忆力和问题解决行为进行了研究，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，在持续注意任务中，与冲动和警觉性控制相关的特征具有很强的家族聚集性，特别是在JME家庭中。这在TLE家庭中看不到，在CAE家庭中只有很小的程度。这项研究已被《临床与实验神经心理学杂志》接受发表。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--最有可能包括6p染色体上的21.3位置--他们在识别JME表型方面的工作与我们自己的神经心理学数据很好地吻合。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，通过K-X-射线技术测量的骨铅含量与持续注意力持续表现测试(CPT)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，最近(2001年8月)在加利福尼亚州旧金山举行的美国心理协会大会的海报会议上公布了这一发现。此外，在约翰·霍普金斯大学的一篇博士论文中，孙慧芳(2000)发现，教师评价的课堂攻击性与CPT的分数显著相关。那些在CPT(和其他注意力测试)中得分较低的孩子比那些在CPT中表现更好的孩子更具攻击性。这至少持续了五个年级(2-6年级)。

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 accepted for publication in the Journal of Clinical & Experimental Neuropsychology. 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 (CPT). These findings were based on studies of an inner-city population of young adults and were recently presented (August 2001) at a poster session at the American Psychological Association convention in San Francisco, California. In addition, in a doctoral dissertation at Johns Hopkins by Huey-Fang Sun (2000), it was found that teacher-rated classroom aggression correlated significantly with scores on the CPT. Those children who scored poorly on the CPT (and on other attention tests) were more aggressive than children who performed better on the CPT. This persisted over at least five grades (2-6).