The Williams syndrome cognitive profile
The Williams syndrome cognitive profile
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DOI：
10.1006/brcg.2000.1232
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发表时间：
2000-12-01
影响因子：
2.5
通讯作者：
Armstrong, SC
中科院分区：
文献类型：
--
作者：
Mervis, CB;Robinson, BF;Armstrong, SC
威廉姆斯综合征是一种罕见的神经发育障碍，由染色体 7q11.73 上约 1.5 兆碱基的半合子缺失引起。在本文中，我们概述了威廉姆斯综合症认知概况（WSCP），该概况使用差异能力量表子测试的绝对和相对表现测量来操作该综合症的认知特征（Elliot，1990a）。测试证实了 WSCP 具有出色的敏感性和特异性得分。 84 名威廉姆斯综合征患者中有 74 人符合 WSCP，而对照组中只有 4 名参与者符合 WSCP 的所有标准。研究还发现，威廉姆斯综合征患者的 WSCP 并不会随着实际年龄或整体认知能力水平的变化而发生很大变化。 WSCP 的可能应用包括心理教育评估和实证研究，例如在这种基于遗传的综合征中寻找基因型/表型关系，(C) 2000 学术出版社。
Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on chromosome 7q11.73. In this article, we outline a Williams Syndrome Cognitive Profile (WSCP) that operationalizes the cognitive characteristics of the syndrome using measures of measure of absolute and relative performance on subtests of the Differential Abilities Scales (Elliot, 1990a). Testing confirmed excellent sensitivity and specificity scores for the WSCP. Seventy-four of 84 individuals with Williams syndrome fit the WSCP while only 4 participants in a contrast group met all of the WSCP criteria. it was also found that the WSCP does not vary greatly with chronological age or overall level of cognitive ability for individuals with Williams syndrome. Possible applications for the WSCP include psychoeducational evaluation and empirical research such as the search for genotype/phenotype relations in this genetically based syndrome, (C) 2000 Academic Press.