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

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Abstract

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 the GTF2IRD1, GTF2I, and GTF2IRD2 genes, seven with a 1.5 Mb deletion that preserved the GTF2IRD2 gene, 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 the GTF2I gene family on social cognition in Williams syndrome.

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Acknowledgments

Programa de Apoyo de Proyectos de Investigación e Innovación Tecnológica PAPIIT, DGAPA-UNAM IN308719 e IA301916 and CONACYT CVU 478060 (Carlos Alberto Serrano Juárez).

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CAS-J conceptualized the project, collected and analyzed the data, wrote and revised the manuscript, edited, and produced the final manuscript. BP-C conceptualized the project and analyzed the data. She wrote and revised the manuscript, edited, and produced the final manuscript. MR-C analyzed the data. He wrote and revised the manuscript, edited, and produced the final manuscript. CV-V Clinical review of patients with WS. He interpreted the chromosome microarray studies. MGY-T, JS-P, HS-C, NA-T, and MAD-M analyzed the data, contributed to the writing, and revised the manuscript.

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Correspondence to Belén Prieto-Corona.

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Serrano-Juárez, C.A., Prieto-Corona, B., Rodríguez-Camacho, M. et al. An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome. J Autism Dev Disord 51, 1695–1704 (2021). https://doi.org/10.1007/s10803-020-04656-4

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