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威廉姆斯综合征早期发育的案例研究:对早期干预的启示

A Case Study of Early Development in Williams Syndrome: Implications for Early Intervention.

作者信息

Hepburn Susan, Philofsky Amy, John Angela, Fidler Deborah J

机构信息

Department of Psychiatry, University of Colorado Health Science Center, Denver (Dr Hepburn and Mss Philofsky and John); and the Human Development & Family Studies, Colorado State University, Fort Collins (Dr Fidler).

出版信息

Infants Young Child. 2005 Jul-Sep;18(3):234-244. doi: 10.1097/00001163-200507000-00007.

Abstract

The aim of this article is to provide an in-depth description of the behavioral phenotype of Williams syndrome in a preschool-aged child. Williams syndrome is a neurodevelopmental, multisystem genetic disorder associated with mental retardation that predisposes individuals to a characteristic pattern of strengths and weaknesses in neuropsychological functioning. While much is known about functioning in adults, very few descriptions of early development are available in the literature. Implications for designing early intervention programs for children with this debilitating disorder are discussed.

摘要

本文旨在深入描述一名学龄前威廉姆斯综合征患儿的行为表型。威廉姆斯综合征是一种神经发育性多系统遗传性疾病,与智力障碍相关,使个体在神经心理功能方面呈现出独特的优势和劣势模式。虽然我们对成年人的功能了解很多,但文献中关于早期发育的描述却很少。本文还讨论了为患有这种致残性疾病的儿童设计早期干预项目的意义。

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本文引用的文献

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Delay in diagnosis of Williams syndrome.威廉姆斯综合征的诊断延误。
Clin Pediatr (Phila). 2002 May;41(4):257-61. doi: 10.1177/000992280204100410.
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Longitudinal course of behavioral and emotional problems in Williams syndrome.威廉姆斯综合征患者行为和情绪问题的纵向病程
Am J Ment Retard. 2001 Jan;106(1):73-81. doi: 10.1352/0895-8017(2001)106<0073:LCOBAE>2.0.CO;2.
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The Williams syndrome cognitive profile.威廉姆斯综合征的认知特征。
Brain Cogn. 2000 Dec;44(3):604-28. doi: 10.1006/brcg.2000.1232.
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II. Hypersociability in Williams Syndrome.二、威廉姆斯综合征中的过度社交性。
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Ment Retard Dev Disabil Res Rev. 2000;6(2):148-58. doi: 10.1002/1098-2779(2000)6:2<148::AID-MRDD10>3.0.CO;2-T.

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