ArticleFrontiers in psychology2012
Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients.
Article in Frontiers in psychology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.Neuropsychology review · 2023Pooled it
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Cell reports · 2024Article
- Article
- Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.American journal of medical genetics. Part A · 2023Article
- Parental report of cognitive and social-emotionality traits in school-age children with autism and Williams syndrome.International journal of developmental disabilities · 2022Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.Journal of autism and developmental disorders · 2021Article
- Calcium Transport in the Kidney and Disease Processes.Frontiers in endocrinology · 2021Review
- Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug.Nature neuroscience · 2019Article
- A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome.Frontiers in neurology · 2018Article
- Rethinking the concepts of 'local or global processors': evidence from Williams syndrome, Down syndrome, and Autism Spectrum Disorders.Developmental science · 2016Article
- Verbal labels increase the salience of novel objects for preschoolers with typical development and Williams syndrome, but not in autism.Journal of neurodevelopmental disorders · 2016Article
- Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome.Journal of autism and developmental disorders · 2015Article
- Regionally specific increased volume of the amygdala in Williams syndrome: evidence from surface-based modeling.Human brain mapping · 2014Article
- Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.European journal of human genetics : EJHG · 2014Article
- Article
- Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.Journal of neurodevelopmental disorders · 2014Article
- The social phenotype of Williams syndrome.Current opinion in neurobiology · 2013Review
Corrections and comments
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12 authors.
Funding
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.
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