Sampaio Adriana, Férnandez Montse, Henriques Margarida, Carracedo Angel, Sousa Nuno, Gonçalves Oscar F
Department of Psychology, University of Minho, Braga, Portugal.
Eur J Paediatr Neurol. 2009 Jul;13(4):337-42. doi: 10.1016/j.ejpn.2008.06.010. Epub 2008 Aug 15.
Williams Syndrome (WS) is a genetic neurodevelopmental disorder caused by a submicroscopic deletion on chromosome 7 q11.23. This is a systemic disorder in which cardiac problems and mental retardation are the key phenotypic symptoms. Although displaying a general cognitive impairment, they are most often described as exhibiting a peak and valley profile, with relative sparing of language and face processing abilities and severe impairment of visual-spatial cognition. In this study, we conducted a detailed cognitive assessment using Wechsler Intelligence Scales on a WS and a normal development control group. To explore the hypothesis of a dissociative cognitive architecture in WS, performance on subtests, factorial indexes and composite measures of Verbal, Performance and Full Scale Intelligence Quotient were analysed. Individuals with WS were found to score in Full Scale Intelligence Quotient (FSIQ) within mild to moderate mental retardation interval, and had significantly lower scores in all measures when they were compared with the normal development group. However, a specific intragroup cognitive profile was found for Williams Syndrome (confirming Mervis' definition of the WS cognitive profile) along with a specific developmental pathway (absence of an age-associated cognitive decline).
威廉姆斯综合征（WS）是一种由7号染色体q11.23区域亚显微缺失引起的遗传性神经发育障碍。这是一种全身性疾病，其主要表型症状为心脏问题和智力发育迟缓。尽管表现出一般的认知障碍，但他们通常被描述为呈现出峰谷模式，语言和面部处理能力相对保留，而视觉空间认知严重受损。在本研究中，我们使用韦氏智力量表对一个威廉姆斯综合征组和一个正常发育对照组进行了详细的认知评估。为了探究威廉姆斯综合征中分离性认知结构的假设，我们分析了言语、操作和全量表智商的子测验、因子指数及综合测量的表现。结果发现，威廉姆斯综合征患者的全量表智商（FSIQ）得分处于轻度至中度智力发育迟缓区间，与正常发育组相比，他们在所有测量指标上的得分均显著更低。然而，威廉姆斯综合征呈现出特定的组内认知特征（证实了默维斯对威廉姆斯综合征认知特征的定义）以及特定的发育途径（不存在与年龄相关的认知衰退）。
