Neuropsychological profile of Italians with Williams syndrome: An example of a dissociation between language and cognition?

Abstract

Important claims have been made regarding the contrasting profiles of linguistic and cognitive performance observed in two genetically based syndromes, Williams syndrome (WS) and Down syndrome (DS). Earlier studies suggested a double dissociation, with language better preserved than nonverbal cognition in children and adults with WS, and an opposite profile in children and adults with DS. More recent studies show that this initial characterization was too simple, and that qualitatively different patterns of deficit observed within both language and visual–spatial cognition, in both groups. In the present study, large samples of children and adolescents with WS and age-matched DS are compared with typically developing (TD) controls matched to WS in mental age, on receptive and expressive lexical and grammatical abilities, semantic and phonological fluency, digit span and nonverbal visual–spatial span, and on 2 visual–spatial construction tasks. Study 1 confirmed distinct profiles of sparing and impairment for the 2 groups, within as well as between language and nonlinguistic domains, even after IQ variations were controlled. In Study 2 we compared performance of the children, adolescents and young adults with DS and WS included in the first study, divided on the basis of the chronological age of the participants (under 8 years; over 12 years). Although it is important to stress that these are cross-sectional rather than longitudinal data, the results demonstrated that the profile of younger children is different in respect to those of the older children; initial states of the system cannot be inferred by the final state. Possible neural substrates for these profiles and trajectories are discussed. (JINS, 2004, 10, 862–876.)

A Longitudinal Study of Cognitive Abilities in Williams Syndrome

“…Contrary to previous claims that one cannot reliably predict end states of cognition in WS based on early cognitive assessments (Vicari et al, 2004), the findings from the current study seem to suggest that one can make somewhat accurate predictions regarding long-term cognitive capabilities of persons with WS (at least from age 5 years and onwards, the youngest age of children in the current study). This is a question of obvious importance to families and also professionals interacting with these individuals.…”

Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

“…Our results extend the 'syndrome-specific' view to the, psychopathology, suggesting development may be asynchronous among different etiological groups with ID because of different characteristics of their brain development. In the last twenty years a mass of findings supports the existence of specific cognitive profile in genetic syndromes as a consequence of neurobiological factors caused by the genetic abnormalities and expressed in abnormal brain maturation [36][37][38][39][40][41][42][43][44][45]. Similar to cognitive findings, our results indicate that psychiatric comorbidity is related to the specific genetic alteration pertaining to the syndrome and not to ID per se.…”

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

“…This neuropsychological profile with relatively intact language and, concerning adaptive behavior, strength in communication is in line with that observed in typically deleted WBS individuals. [15][16][17] Careful analysis of facial features of patients with atypical deletion and varying degrees of craniofacial abnormalities and animal model studies suggest that genes at both proximal and distal ends of the deletion are involved in WBS craniofacial features. 3,[18][19][20][21] In particular, two genes have been postulated to be mainly involved in the craniofacial features of WBS, GTF2IRD1, and BAZ1B.…”