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

AbstractResearch 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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Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive

Research in Developmental Disabilities ◽

10.1016/j.ridd.2014.04.015 ◽

2014 ◽

Vol 35 (8) ◽

pp. 1838-1849 ◽

Cited By ~ 17

Author(s):

Rowena Ng ◽

Anna Järvinen ◽

Ursula Bellugi

Keyword(s):

Williams Syndrome ◽

Social Phenotype ◽

The Social

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Once more with feeling: Affect and language in atypical populations

Development and Psychopathology ◽

10.1017/s0954579400005782 ◽

1990 ◽

Vol 2 (4) ◽

pp. 367-391 ◽

Cited By ~ 139

Author(s):

Judy Reilly ◽

Edward S. Klima ◽

Ursula Bellugi

Keyword(s):

Down Syndrome ◽

Williams Syndrome ◽

Social Cognitive ◽

Neurodevelopmental Disorder ◽

Cognitive Domain ◽

Underlying Structure ◽

Affective Prosody ◽

The Social ◽

Atypical Development ◽

The Individual

AbstractThe study of clearly identifiable patterns of atypical development can inform normal development in significant ways. Delayed or deviant development puts in high relief not only the sequence of development but also the individual components. This article presents the results of studies that compare adolescents with Williams syndrome, a rare metabolic neurodevelopmental disorder resulting in mental retardation, with cognitively matched adolescents with Down syndrome. We investigate the interaction between affect and language through storytelling. In contrast to the adolescents with Down syndrome, the Williams syndrome subjects tell coherent and complex narratives that make extensive use of affective prosody. Furthermore, stories from the Williams but not the Down subjects are infused with lexically encoded narrative evaluative devices that enrich the referential content of the stories. This contrast in expressivity between two matched atypical groups provides an unusual perspective on the underlying structure of the social cognitive domain.

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Investigating the Social Phenotype in Williams Syndrome: Methodological Challenges

Frontiers in Human Neuroscience ◽

10.3389/conf.neuro.09.2009.07.023 ◽

2009 ◽

Vol 3 ◽

Author(s):

Flusberg H.

Keyword(s):

Williams Syndrome ◽

Methodological Challenges ◽

Social Phenotype ◽

The Social

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Contributions of Socioneuroscience to Research on Coerced and Free Sexual-Affective Desire

Frontiers in Behavioral Neuroscience ◽

10.3389/fnbeh.2021.814796 ◽

2022 ◽

Vol 15 ◽

Author(s):

Sandra Racionero-Plaza ◽

Lídia Puigvert ◽

Marta Soler-Gallart ◽

Ramon Flecha

Keyword(s):

Social Sciences ◽

Social Impact ◽

Communicative Interaction ◽

Human Communication ◽

Communicative Acts ◽

New Findings ◽

The Social ◽

History Of ◽

Brain And Behavior ◽

The Brain

Neuroscience has well evidenced that the environment and, more specifically, social experience, shapes and transforms the architecture and functioning of the brain and even its genes. However, in order to understand how that happens, which types of social interactions lead to different results in brain and behavior, neurosciences require the social sciences. The social sciences have already made important contributions to neuroscience, among which the behaviorist explanations of human learning are prominent and acknowledged by the most well-known neuroscientists today. Yet neurosciences require more inputs from the social sciences to make meaning of new findings about the brain that deal with some of the most profound human questions. However, when we look at the scientific and theoretical production throughout the history of social sciences, a great fragmentation can be observed, having little interdisciplinarity and little connection between what authors in the different disciplines are contributing. This can be well seen in the field of communicative interaction. Nonetheless, this fragmentation has been overcome via the theory of communicative acts, which integrates knowledge from language and interaction theories but goes one step further in incorporating other aspects of human communication and the role of context. The theory of communicative acts is very informative to neuroscience, and a central contribution in socioneuroscience that makes possible deepening of our understanding of most pressing social problems, such as free and coerced sexual-affective desire, and achieving social and political impact toward their solution. This manuscript shows that socioneuroscience is an interdisciplinary frontier in which the dialogue between all social sciences and all natural sciences opens up an opportunity to integrate different levels of analysis in several sciences to ultimately achieve social impact regarding the most urgent human problems.

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Honing in on the Social Phenotype in Williams Syndrome Using Multiple Measures and Multiple Raters

Journal of Autism and Developmental Disorders ◽

10.1007/s10803-010-1060-5 ◽

2010 ◽

Vol 41 (3) ◽

pp. 341-351 ◽

Cited By ~ 51

Author(s):

Bonita P. Klein-Tasman ◽

Kirsten T. Li-Barber ◽

Erin T. Magargee

Keyword(s):

Williams Syndrome ◽

Multiple Measures ◽

Social Phenotype ◽

The Social

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Developmental psychopathology in an era of molecular genetics and neuroimaging: A developmental neurogenetics approach

Development and Psychopathology ◽

10.1017/s0954579415000188 ◽

2015 ◽

Vol 27 (2) ◽

pp. 587-613 ◽

Cited By ~ 21

Author(s):

Luke W. Hyde

Keyword(s):

Molecular Genetics ◽

Developmental Psychopathology ◽

Imaging Genetics ◽

Gene Environment ◽

Brain Structure And Function ◽

Brain And Behavior ◽

And Function ◽

And Behavior ◽

The Brain

AbstractThe emerging field of neurogenetics seeks to model the complex pathways from gene to brain to behavior. This field has focused on imaging genetics techniques that examine how variability in common genetic polymorphisms predict differences in brain structure and function. These studies are informed by other complimentary techniques (e.g., animal models and multimodal imaging) and have recently begun to incorporate the environment through examination of Imaging Gene × Environment interactions. Though neurogenetics has the potential to inform our understanding of the development of psychopathology, there has been little integration between principles of neurogenetics and developmental psychopathology. The paper describes a neurogenetics and Imaging Gene × Environment approach and how these approaches have been usefully applied to the study of psychopathology. Six tenets of developmental psychopathology (the structure of phenotypes, the importance of exploring mechanisms, the conditional nature of risk, the complexity of multilevel pathways, the role of development, and the importance of who is studied) are identified, and how these principles can further neurogenetics applications to understanding the development of psychopathology is discussed. A major issue of this piece is how neurogenetics and current imaging and molecular genetics approaches can be incorporated into developmental psychopathology perspectives with a goal of providing models for better understanding pathways from among genes, environments, the brain, and behavior.

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Puberty, Hormones, and the Social Brain

Coming of Age ◽

10.1093/oso/9780195314373.003.0006 ◽

2019 ◽

pp. 69-95

Author(s):

Cheryl L. Sisk ◽

Russell D. Romeo

Keyword(s):

Social Cognition ◽

Sensory Information ◽

Social Behaviors ◽

Gonadal Hormones ◽

Sensitive Period ◽

The Social ◽

History Of ◽

Brain And Behavior ◽

And Behavior ◽

The Brain

This chapter begins with some history of the field of behavioral neuroendocrinology and traces the origins of the classic organizational-activational hypothesis to explain sexual differentiation of the brain and behavior and hormonal influences on sex-typical social behaviors. The classic hypothesis posits that testicular hormones masculinize and defeminize neural circuits during a perinatal sensitive period, programming sex-typical activational responses to gonadal hormones in adulthood. Research since the mid- to late 1980s shows that a second wave of hormone-dependent organization of the brain and behavior occurs during puberty and adolescence and that ovarian hormones are actively involved in feminization of the brain during the adolescent period of organization. Next, a conceptual framework is presented for studying adolescent development of social cognition (the mental processes by which an individual encodes, interprets, and responds to sensory information from an animal of the same species) in the context of social reorientation, when during adolescence the source of social reward shifts from family to peers. The chapter reviews the literature on what social behaviors and aspects of social cognition are organized by pubertal hormones in males, as well as the nonsocial behaviors that are organized by pubertal hormones in males and females.

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Using neuroimaging to predict brain age: insights into typical and atypical development and risk for psychopathology

Journal of Neurophysiology ◽

10.1152/jn.00267.2020 ◽

2020 ◽

Vol 124 (2) ◽

pp. 400-403

Author(s):

Carmela Díaz-Arteche ◽

Divyangana Rakesh

Keyword(s):

Learning Algorithm ◽

Brain Maturation ◽

Future Research ◽

Childhood And Adolescence ◽

Brain Structure And Function ◽

Atypical Development ◽

And Function ◽

Brain Age ◽

The Brain ◽

Age Prediction

Childhood and adolescence are characterized by complex patterns of changes in brain structure and function. Recently, Truelove-Hill et al. (Truelove-Hill M, Erus G, Bashyam V, Varol E, Sako C, Gur RC, Gur RE, Koutsouleris N, Zhuo C, Fan Y, Wolf DH, Satterthwaite TD, Davatzikos C. J Neurosci 40: 1265–1275, 2020) used a novel machine learning algorithm to capture the subtle nuances of brain maturation during adolescence in two indices based on predicted brain age. In this article, we present an overview of the brain age prediction model used, provide further insight into the utility of this multimodal index to explore typical and atypical development, and discuss avenues for future research.

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