4.5 Article

An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome

Journal

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Volume 51, Issue 5, Pages 1695-1704

Publisher

SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-020-04656-4

Keywords

Williams syndrome; Social cognition; Genotypes; GTF2Ifamily; Social phenotype; GTF2IRD2

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This study explored social cognition in children with Williams syndrome with different genotypes, finding that participants retaining certain genes performed better on social judgment tasks. The results suggest an influence of the GTF2I gene family on social cognition in Williams syndrome.
An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one with a 1.1 Mb deletion that retained theGTF2IRD1,GTF2I, andGTF2IRD2genes, seven with a 1.5 Mb deletion that preserved theGTF2IRD2gene, and four with a 1.8 Mb deletion with loss of all three genes. The participant retaining all three genes was found to have better performance on social judgment and first-order theory of mind tasks than the group with loss of all three genes. These results may reflect the influence of theGTF2Igene family on social cognition in Williams syndrome.

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