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Cited by 177Williams Syndrome ResearchGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

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Järvinen-Pasley, Anna, Bellugi, Ursula, Reilly, Judy, MILLS, Debra L., Galaburda, Albert, Reiss, Allan L., Korenberg, Julie R.·2008·Development and Psychopathology
DOI 10.1017/s0954579408000011PMC PMC2892602
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Abstract

Research into phenotype-genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene-brain-behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive-behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive-behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology.

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  • The social phenotype of Williams syndrome includes hypersociability, preference for novel social over non-social stimuli, and increased eye contact.

    “The social phenotype associated with WS is striking due to the hypersociability of the affected individuals, as well as the preference for novel social over non-social stimuli (Jarvinen-Pasley et al., 2008; Jarvinen-Pasley et al., 2010) and increased eye contact (Mervis et al., 2003).”

    From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Jarvinen-Pasley et al., 2008

  • Genes such as LIMK1, CYLN2, GTF2I and GTF2IRD1 are involved in the behavioral phenotype of Williams syndrome.

    “other genes such as LIMK1, CYLN2, GTF2I and GTF2IRD1 are involved in the behavioral phenotype of WS (Jarvinen-Pasley et al., 2008).”

    From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Jarvinen-Pasley et al., 2008

  • Individuals with Williams syndrome show deficits in social understanding, as evidenced by difficulty identifying affect or other's mental states.

    “In addition, affected individuals show deficits in social understanding, as evidenced by difficulty identifying affect (Gagliardi et al., 2003; Plesa-Skwerer et al., 2006) or other’s mental states (Jarvinen-Pasley et al., 2008).”

    From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Jarvinen-Pasley et al., 2008

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Authors
Järvinen-Pasley, A., Bellugi, U., Reilly, J., MILLS, D. L., Galaburda, A., Reiss, A. L., & Korenberg, J. R.
Affiliations
  • Salk Institute for Biological Studies (US)
  • San Diego State University (US)
  • Emory University (US)
  • Beth Israel Deaconess Medical Center (US)
  • Stanford Medicine (US)
  • Cedars-Sinai Medical Center (US)
Corresponding author
Bellugi, Ursula
ORCID
Venue
Development and Psychopathology
Publisher
Cambridge University Press (CUP)
Published
2008
Volume
20
Issue
1
Pages
1-35
ISSN
  • 0954-5794 (ISSN-L)
  • 1469-2198
DOI
10.1017/s0954579408000011
PMC
PMC2892602
OpenAlex
W2106658181
Cited by
177
References
168
Citations by year
2025: 2 · 2024: 3 · 2023: 4 · 2022: 8 · 2021: 8 · 2020: 8 · 2019: 8 · 2018: 11 · 2017: 9 · 2016: 9 · 2015: 16 · 2014: 17 · 2013: 9 · 2012: 12
FWCI
5.19
Type
journal article
Language
en
Open access
Licence
www.cambridge.org/core/terms (unspecified, 22 d)
Locations
  • Development and Psychopathology (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • HAL (submittedVersion)
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01 HD 33113, P01HD033113)
Topics
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
Williams syndrome, social phenotype, gene-brain-behavior relationship, chromosome 7q11.23 deletion, neurodevelopmental disorders, personality, social behavior, social development (developmental psychology), brain structure and function, psychopathology
MeSH terms
Adolescent, Adult, Brain, Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 7, Cognition Disorders, Cross-Cultural Comparison, Elastin, Emotions, Female, Genotype, Humans, Infant, Magnetic Resonance Imaging, Male, Intellectual Disability, Personality Development, Phenotype, Social Environment, Personal Construct Theory, Williams Syndrome

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