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 behavior 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 #
5P01HD033113-18
Application #
8775242
Study Section
Special Emphasis Panel (ZHD1-MRG-C)
Project Start
Project End
Budget Start
2014-03-01
Budget End
2015-02-28
Support Year
18
Fiscal Year
2014
Total Cost
$146,457
Indirect Cost
Name
University of Utah
Department
Type
DUNS #
009095365
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
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
Hanson, Kari L; Hrvoj-Mihic, Branka; Semendeferi, Katerina (2014) A dual comparative approach: integrating lines of evidence from human evolutionary neuroanatomy and neurodevelopmental disorders. Brain Behav Evol 84:135-55
Ng, Rowena; Järvinen, Anna; Bellugi, Ursula (2014) Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive. Res Dev Disabil 35:1838-49
Ng, Rowena; Lai, Philip; Levitin, Daniel J et al. (2013) Musicality Correlates With Sociability and Emotionality in Williams Syndrome. J Ment Health Res Intellect Disabil 6:268-279
Mills, D L; Dai, L; Fishman, I et al. (2013) Genetic mapping of brain plasticity across development in Williams syndrome: ERP markers of face and language processing. Dev Neuropsychol 38:613-42
Teffer, Kate; Semendeferi, Katerina (2012) Human prefrontal cortex: evolution, development, and pathology. Prog Brain Res 195:191-218
Fishman, Inna; Ng, Rowena; Bellugi, Ursula (2012) Neural processing of race by individuals with Williams syndrome: do they show the other-race effect? (And why it matters). Soc Neurosci 7:373-84
Haas, B W; Hoeft, F; Barnea-Goraly, N et al. (2012) Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study. Genes Brain Behav 11:62-8

Showing the most recent 10 out of 74 publications