Verbal and non-verbal abilities in Williams-Beuren syndrome
The purpose of this study was to describe the communication abilities of individuals with Williams-Beuren syndrome (WBS). Twelve individuals (6 males and 6 females), ranging in age from 6;6 to 23;6 yrs (mean age = 12.11 yrs) clinically and cytogenetically (FISH) diagnosed with WBS participated in this study. The WBS group (G1) was compared with a control group (6males and 6 females) of the same mental age (4.8 to 14.3 yrs ) and no language complaint (G2).
Both receptive and expressive verbal languages were assessed. Complimentary tests included the Peabody Picture Vocabulary Test (PPVT), Token Test and Illinois Test of Psycolinguistic Abilities (ITPA). We identified social-pragmatic language impairments that included linguistic disabilities with phonological, syntactic and semantic impairments and turns and topic maintenance difficulties. The impairment of pragmatic abilities was one of the principal difficulties shown by WBS individuals, especially when perseverative and echolalic verbal behaviors were present. The verbosity and hipersociability of the Cocktail Party Speech (CPS) phenotype was not identified in all WBS individuals. Only those showing CPS used clichés and presented ecolaly. The prosodic resources and vocal sounds associated with a smiling facial expression complimented the verbal behavior of the individuals with WBS-CPS. Ecolaly affected the functional use of language whereas the use of clichés associated to prosodic resources and vocal sounds favored the communication profile. PPVT and the Token Test revealed difficulties in the receptive vocabulary and ITPA showed difficulties in both auditory and visual skills related to language. We concluded that difficulties in the reception and emission of oral language affect the pragmatic competence of individuals with WBS. CPS was not observed in all WBS cases. Future molecular studies are necessary to better identify which genes are involved in the behavioral phenotype of this syndrome.