Abstract
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in the WS critical region (WSCR) of chromosome 7q11.23 to this unusual social profile. In this paper, we provide details of two case studies of children with partial genetic deletions in the WSCR: an 11-year-old female with a deletion of 24 of the 28 WS genes, and a 14-year-old male who presents with the opposite profile, i.e., the deletion of only four genes at the telomeric end of the WSCR. We tested these two children on a large battery of standardized and experimental social perception and social cognition tasks – both implicit and explicit – as well as standardized social questionnaires and general psychometric measures. Our findings reveal a partial WS socio-cognitive profile in the female, contrasted with a more autistic-like profile in the male. We discuss the implications of these findings for genotype/phenotype relations, as well as the advantages and limitations of animal models and of case study approaches.
Highlights
Williams syndrome (WS) has offered interesting insights into human social cognition in that, despite mild to moderately low IQ, individuals with WS present with an unusually strong social drive (Bellugi et al, 2000; Jones et al, 2000; Plesa Skwerer et al, 2011)
Typical and atypical duplications and deletions of the WS critical region (WSCR) have been identified in some individuals presenting with a TWO HUMAN CASE STUDIES Given the probable importance of the three GTF2 transcription factors for the social phenotype of WS, we focused on two individual case studies, an 11-year-old female (HR in Tassabehji et al, 2005) with 24 genes deleted in the WSCR and a 14-year-old male (JB) with only the four telomeric genes deleted
We ran a second version of the task later in the testing session, but JB showed no signs that he understood the mental state implications of the task
Summary
Williams syndrome (WS) has offered interesting insights into human social cognition in that, despite mild to moderately low IQ, individuals with WS present with an unusually strong social drive (Bellugi et al, 2000; Jones et al, 2000; Plesa Skwerer et al, 2011). WS can be diagnosed at or shortly after birth, because the genetic basis – confirmed by a fluorescence in situ hybridization probe for the missing ELASTIN gene located at the center of the WS deletion – is usually suspected when cardiac problems in the form of supravalvular aortic stenosis and a typical WS facial dysmorphology are noted (Donnai and Karmiloff-Smith, 2000; Hammond et al, 2005) This means that current research can target older children and adults, but can focus on infants and toddlers in the first 2 years of life (e.g., Paterson et al, 1999; Brown et al, 2003; Van Herwegen et al, 2008). Mouse models have been helpful in guiding human research in the socio-cognitive domain, many open questions remain
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