The social phenotype of Williams syndrome
Open accessAbstract
Williams syndrome (WS) offers an exciting model for social neuroscience because its genetic basis is well-defined, and the unique phenotype reflects dimensions of prosocial behaviors. WS is associated with a strong drive to approach strangers, a gregarious personality, heightened social engagement yet difficult peer interactions, high nonsocial anxiety, unusual bias toward positive affect, and diminished sensitivity to fear. New neurobiological evidence points toward alterations in structure, function, and connectivity of the social brain (amygdala, fusiform face area, orbital-frontal regions). Recent genetic studies implicate gene networks in the WS region with the dysregulation of prosocial neuropeptides. The study of WS has implications for understanding human social development, and may provide insight for translating genetic and neuroendocrine evidence into treatments for disorders of social behavior.
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Williams syndrome has a distinct behavioral phenotype marked by increased social drive, social fearlessness, poor judgment, difficulty forming peer relationships, and high anxiety levels.
“However, better characterization of this syndrome has elucidated a distinct behavioral phenotype marked by an increased social drive paired with social fearlessness, poor judgment, difficulty forming peer relationships and high anxiety levels (Jarvinen et al., 2013).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Jarvinen et al., 2013
The speech of individuals with Williams syndrome is marked by high levels of socially engaging language compared to controls or individuals with other developmental disorders such as Down Syndrome.
“In addition, the speech of individuals with WS is marked by high levels of socially engaging language as compared to controls or individuals with other developmental disorders such as Down Syndrome (Jarvinen-Pasley et al., 2010; Jarvinen et al., 2013).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Jarvinen et al., 2013
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- [22]Klein-Tasman BP Li-Barber KT Magargee ET Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters. J Autism Dev Disord 2011 41 341 351 20614173 PMC3020248
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- Authors
- Järvinen, A., Korenberg, J. R., & Bellugi, U.
- Affiliations
- Salk Institute for Biological Studies (US)
- University of Utah (US)
- Corresponding author
- Bellugi, Ursula
- ORCID
- Korenberg, Julie R
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2013-06
- Volume
- 23
- Issue
- 3
- Pages
- 414-422
- ISSN
- 0959-4388 (ISSN-L)
- PMC
- PMC4326252
- OpenAlex
- W2039730733
- Cited by
- 161
- References
- 62
- Citations by year
- 2026: 6 · 2025: 7 · 2024: 10 · 2023: 13 · 2022: 9 · 2021: 12 · 2020: 14 · 2019: 8 · 2018: 10 · 2017: 18 · 2016: 21 · 2015: 14 · 2014: 14 · 2013: 5
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NICHD (033113-15)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Williams syndrome, social phenotype, prosocial behavior, social brain, amygdala, fusiform face area, orbitofrontal cortex, social anxiety, neuropeptides, social development (developmental psychology)
- MeSH terms
- Brain, Female, Humans, Male, Phenotype, Social Behavior, Williams Syndrome
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