Neurological soft signs feature a double dissociation within the language system in Williams syndrome
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- 作者：Aless ; ro Tavano ; Chiara Gagliardi ; Sara Martelli ; Renato Borgatti
- 关键词：Williams-Beuren syndrome ; Basal ganglia ; Cerebellum ; Neurological signs ; Cognition ; Visuospatial skills
- 刊名：Neuropsychologia
- 出版年：2010
- 出版时间：September 2010
- 年：2010
- 卷：48
- 期：11
- 页码：3298-3304
- 全文大小：271 K
文摘
The neurocognitive profile of Williams-Beuren syndrome (WBS) is characterized by visuospatial deficits, apparently fluent language, motor soft signs, and hypersociability. We investigated the association between neuromotor soft signs and visuospatial, executive-attentive, mnestic and linguistic functions in a group of 26 children and young adults with WBS. We hypothesized that neurological soft signs could be an index of subtle neurofunctional deficits and thus provide a behavioural window into the processes underlying neurocognition in Williams-Beuren syndrome. Dysmetria and dystonic movements were selected as grouping neurological variables, indexing cerebellar and basal ganglia dysfunction, respectively. No detrimental effects on visuospatial/visuoconstructive skills were evident following the presence of either neurological variable. As for language skills, participants with dysmetria showed markedly reduced expressive syntactic and lexico-semantic skills as compared to non-affected individuals, while no difference in chronological age was evident. Participants with dystonic movements showed reduced receptive syntax and increased lexical comprehension skills as compared to non-affected individuals, the age factor being significant. In both instances, the effect size was greater for syntactic measures. We take these novel findings as suggestive of a double dissociation between expressive and receptive skills at sentence level within the WBS linguistic phenotype. The investigation of neuromotor soft signs and neuropsychological functions may provide a key to new non-cortico-centric genotype/phenotype relationships.