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基因组发育神经心理学的挑战与机遇:以宾州德雷塞尔合作电池为例。

Challenges and opportunities for genomic developmental neuropsychology: examples from the Penn-Drexel collaborative battery.

机构信息

Neuropsychiatry Section, Department of Psychiatry, 10th Floor, Gates Building, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA.

出版信息

Clin Neuropsychol. 2011 Aug;25(6):1029-41. doi: 10.1080/13854046.2011.585142. Epub 2011 Sep 9.

Abstract

Genomics has been revolutionizing medicine over the past decade by offering mechanistic insights into disease processes and engendering the age of "individualized medicine." Because of the sheer number of measures generated by gene sequencing methods, genomics requires "Big Science" where large datasets on genes are analyzed in reference to electronic medical record data. This revolution has largely bypassed the behavioral neurosciences, mainly because of the paucity of behavioral data in medical records and the labor-intensity of available neuropsychological assessment methods. We describe the development and implementation of an efficient neuroscience-based computerized battery, coupled with a computerized clinical assessment procedure. This assessment package has been applied to a genomic study of 10,000 children aged 8-21, of whom 1000 also undergo neuroimaging. Results from the first 3000 participants indicate sensitivity to neurodevelopmental trajectories. Sex differences were evident, with females outperforming males in memory and social cognition domains, while for spatial processing males were more accurate and faster, and they were faster on simple motor tasks. The study illustrates what will hopefully become a major component of the work of clinical and research neuropsychologists as invaluable participants in the dawning age of Big Science neuropsychological genomics.

摘要

基因组学在过去十年中通过提供对疾病过程的机制见解并引发“个体化医学”时代,彻底改变了医学。由于基因测序方法产生的测量数量庞大,基因组学需要“大科学”,即对参照电子病历数据的基因进行大型数据集分析。这场革命在很大程度上避开了行为神经科学,主要是因为病历中缺乏行为数据,以及现有的神经心理学评估方法劳动强度大。我们描述了一种高效的基于神经科学的计算机化电池的开发和实施,以及一种计算机化临床评估程序。该评估包已应用于对 10000 名 8-21 岁儿童的基因组学研究,其中 1000 名儿童还接受了神经影像学检查。前 3000 名参与者的结果表明,该评估包对神经发育轨迹具有敏感性。性别差异明显,女性在记忆和社会认知领域的表现优于男性,而在空间处理方面,男性更准确、更快,在简单的运动任务中也更快。该研究说明了作为大科学神经心理学基因组学崭新时代中不可或缺的参与者,临床和研究神经心理学家有望成为其中的主要组成部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6c7/4184424/d3a30d8ec41c/nihms388162f1.jpg

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Functional magnetic resonance imaging in schizophrenia.精神分裂症中的功能磁共振成像
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Point: Hypotheses first.要点:先提出假设。
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