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Cognitive Characteristics of Children with Genetic Syndromes

机译:遗传综合征儿童的认知特征

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摘要

The cognitive profile of several different populations of children, each with a distinct neurogenetic disorder that has been described as fitting the pattern of a “nonverbal learning disorder”, is examined. In particular, this paper presents the view that a cognitive endophenotype, specified in terms of specific cognitive processes involving the spatial, temporal and attentional domains, can be used to generate an explanation of the neurocognitive foundation of the common impairments found in these disorders. Methods for evaluating cognitive impairments are first compared and contrasted and the concept of “nonverbal learning disorders” is described. The paper then examines data from experimental tests of spatiotemporal and executive cognitive function acquired from children with one of several disorders to determine whether such a cognitive endophenotype holds promise for moving from descriptions of to explanations for the impairments observed and whether prescriptions for therapeutic interventions might flow from such an account.SynopsisThis paper presents the cognitive profile observed in children with one of several common genetic syndromes associated with “nonverbal learning disorders”. It introduces the concept of a cognitive endophenotype in order to help explain the similar pattern of impairments across the syndromes. It explores the explanation of diverse impairments in higher-order visual, spatial, temporal, numerical and executive cognitive competencies deriving from origins in more basic attentional and spatial cognitive dysfunctions. The importance of a developmental approach to understanding dysfunction is stressed.
机译:研究了几种不同人口儿童的认知情况,每种儿童都有明显的神经遗传性疾病,被描述为符合“非语言学习障碍”的模式。特别是,本文提出了这样一种观点,即根据涉及空间,时间和注意域的特定认知过程指定的认知内表型,可以用来解释这些疾病中常见障碍的神经认知基础。首先比较和对比评估认知障碍的方法,并描述“非语言学习障碍”的概念。然后,本文检查了来自患有几种疾病之一的儿童的时空和执行性认知功能实验测试的数据,以确定这种认知内表型是否有望从描述的描述转变为对观察到的障碍的解释,以及是否可能制定治疗干预措施提要本文介绍了在患有与“非语言学习障碍”相关的几种常见遗传综合征之一的儿童中观察到的认知特征。它介绍了认知内表型的概念,以帮助解释整个综合征的类似损伤模式。它探讨了高阶视觉,空间,时间,数字和执行者认知能力中各种障碍的解释,这些障碍源于更基本的注意力和空间认知功能障碍。强调了开发方法以了解功能障碍的重要性。

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