title: Neurological soft signs feature a double dissociation within the language system in Williams syndrome.
abstract: 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.
authors.affiliation: Department of Child Neuropsychiatry and Neurorehabilitation, Eugenio Medea Scientific Institute, Bosisio Parini, Lecco, Italy. tavano@uni-leipzig.de
authors.forename: Alessandro
authors.initials: A
authors.lastname: Tavano
authors.forename: Chiara
authors.initials: C
authors.lastname: Gagliardi
authors.forename: Sara
authors.initials: S
authors.lastname: Martelli
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003071:Cognition / Q000502:physiology; D032882:Comprehension / Q000502:physiology; D056344:Executive Function / Q000502:physiology; D005260:Female; D006801:Humans; D007802:Language; D008297:Male; D008568:Memory / Q000502:physiology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D011578:Psycholinguistics; D014705:Verbal Behavior; D014888:Wechsler Scales; D018980:Williams Syndrome / Q000523:psychology*; D055815:Young Adult