Rossi Natalia Freitas, Moretti-Ferreira Danilo, Giacheti Célia Maria
Instituto de Biociências da Universidade Estadual Paulista, Campus de Botucatu.
Pro Fono. 2006 Sep-Dec;18(3):331-8. doi: 10.1590/s0104-56872006000300013.
genetic, cognitive and language aspects of the Williams-Beuren Syndorme (WBS).
to present a review of the literature about WBS, highlighting its genetic, cognitive and language characteristics.
the literature indicates that although the etiology of WBS is known, early diagnosis is difficult due to the great variability of its clinical characteristics. This great phenotypic variability has been associated to a deletion of several genes in region 7q 11.23 which includes the elastin gene. The deletion of this gene is identified by the Fluorecent in situ Hibridization test (FISH). The incidence of this syndrome is 1 in every 20,000 birth and is the result of a "de novo" genetic alteration. The syndrome is characterized by an elfin type face, cardiac alterations, cognitive deficits and behavioral aspects that include language. A peculiar cognitive profile has often been described as consisting of outstanding social and verbal skills associated to visuo-spatial impairments. Cognitive deficits are variable and may not be present. Studies that describe language abilities indicate that syntax might be intact or partially intact; speech can be precise and intelligible indicating that the phonological system is preserved. The receptive vocabulary is mentioned in a few studies as being adequate and in others as being impaired according to mental age. Researches have produced incongruent findings regarding the cognitive and linguistic abilities. The correlation between the language and cognitive abilities and the divergent findings presented in the literature will be discussed in this article.
威廉姆斯综合征（WBS）的遗传、认知和语言方面。
对有关WBS的文献进行综述，突出其遗传、认知和语言特征。
文献表明，虽然WBS的病因已知，但由于其临床特征差异极大，早期诊断困难。这种巨大的表型变异性与7q11.23区域多个基因的缺失有关，其中包括弹性蛋白基因。该基因的缺失通过荧光原位杂交试验（FISH）来识别。这种综合征的发病率为每20000例出生中有1例，是“从头”发生的基因改变的结果。该综合征的特征包括小精灵样面容、心脏病变、认知缺陷以及包括语言在内的行为方面。一种特殊的认知特征常被描述为具有出色的社交和语言技能，但伴有视觉空间障碍。认知缺陷是可变的，也可能不存在。描述语言能力的研究表明，句法可能完整或部分完整；言语可以准确且清晰，表明语音系统得以保留。一些研究提到接受性词汇量充足，而另一些研究则根据心理年龄表明其受损。关于认知和语言能力的研究结果并不一致。本文将讨论语言和认知能力之间的相关性以及文献中呈现的不同研究结果。
