Hepburn Susan, Philofsky Amy, John Angela, Fidler Deborah J
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).
Infants Young Child. 2005 Jul-Sep;18(3):234-244. doi: 10.1097/00001163-200507000-00007.
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.
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。
