One of the most compelling features of Williams syndrome (WS) is the distinctive social profile that holds promise for understanding the underlying neurogenetic systems that provide meaning to human social interaction. Our studies to date suggest that while individuals with WS typically demonstrate an increased appetitive social drive, the social profile is characterized by dissociations (e.g., overly-friendly with a difficulty in making friends;socially fearless but anxious;positive affect with maladaptive behaviors).
The aims of Project V focus on the characterization of the social phenotype of WS, enabling links to the genetic and neurobiological pathways of these """"""""dissociations"""""""". To this end, the Specific Aims are:
Aim 1 : Insatiable Appetitive Drive for Approaching Strangers will examine the underpinnings and variability of the increased attraction and approachability towards unfamiliar people observed in individuals with WS.
Aim 2 : The Unique Salience of Faces will elucidate the nature and underlying mechanisms of the atypically high interest in faces in WS, and its relation to the resultant """"""""hypersocial"""""""" phenotype.
Aim 3 : Unusual Emotional Sensitivity will investigate both (a) the perception and processing of affect of others by those with WS, and (b) the overall affective style of individuals with WS. Using a multi-method design reflecting multiple levels of explanation (electrophysiology, autonomic function, and eye fixation). Project V studies will produce highly nuanced, quantifiable and independent key dimensions of the unique social behavior characteristic of WS. From a theoretical standpoint, a major thrust of the proposed work is to disentangle the processing of key components of social interaction and their respective underpinnings in the context of the enigmatic, yet paradoxical, WS social phenotype, with the ultimate goal of characterizing the complete system of social behavior and understanding the ways it can break down. Such a multileveled approach has not been previously adopted within this domain of inquiry. Results from these studies will add unique knowledge to our understanding of social behavior, by further defining the pathways implicated in gene-brain-behavior linkages, and are designed to contribute to better-informed treatments.

Public Health Relevance

A mission of NICHD includes research that leads to increased understanding and treatment of social behavior and emotional disorders. We propose research that targets the study of genes, neural circuits, and social behvior in new and innovative ways, the results of our studies will provide unprecedented integration Of the genetic and brain processes responsible for human social behavior, and key to novel treatments.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
7P01HD033113-17
Application #
8758868
Study Section
Special Emphasis Panel (ZHD1-MRG-C)
Project Start
Project End
Budget Start
2013-09-01
Budget End
2014-02-28
Support Year
17
Fiscal Year
2013
Total Cost
$137,354
Indirect Cost
Name
University of Utah
Department
Type
DUNS #
009095365
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
Green, Tamar; Fierro, Kyle C; Raman, Mira M et al. (2016) Surface-based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome. Am J Med Genet B Neuropsychiatr Genet 171B:402-13
Ng, Rowena; Brown, Timothy T; Erhart, Matthew et al. (2016) Morphological differences in the mirror neuron system in Williams syndrome. Soc Neurosci 11:277-88
Ng, Rowena; Brown, Timothy T; Järvinen, Anna M et al. (2016) Structural integrity of the limbic-prefrontal connection: Neuropathological correlates of anxiety in Williams syndrome. Soc Neurosci 11:187-92
Ng, Rowena; Fishman, Inna; Bellugi, Ursula (2015) Frontal asymmetry index in Williams syndrome: Evidence for altered emotional brain circuitry? Soc Neurosci 10:366-75
Järvinen, Anna; Ng, Rowena; Bellugi, Ursula (2015) Autonomic response to approachability characteristics, approach behavior, and social functioning in Williams syndrome. Neuropsychologia 78:159-70
Järvinen, Anna; Ng, Rowena; Crivelli, Davide et al. (2015) Relations between social-perceptual ability in multi- and unisensory contexts, autonomic reactivity, and social functioning in individuals with Williams syndrome. Neuropsychologia 73:127-40
Herai, Roberto R; Stefanacci, Lisa; Hrvoj-Mihic, Branka et al. (2014) Micro RNA detection in long-term fixed tissue of cortical glutamatergic pyramidal neurons after targeted laser-capture neuroanatomical microdissection. J Neurosci Methods 235:76-82
Hoeft, Fumiko; Dai, Li; Haas, Brian W et al. (2014) Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome. PLoS One 9:e104088
Freitas, Beatriz C G; Trujillo, Cleber A; Carromeu, Cassiano et al. (2014) Stem cells and modeling of autism spectrum disorders. Exp Neurol 260:33-43
Marinkovic, Ksenija; Courtney, Maureen G; Witzel, Thomas et al. (2014) Spatio-temporal dynamics and laterality effects of face inversion, feature presence and configuration, and face outline. Front Hum Neurosci 8:868

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