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Williams syndrome-specific neuroanatomical profile and its associations with behavioral features

Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific...

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Autores principales: Fan, Chun Chieh, Brown, Timothy T., Bartsch, Hauke, Kuperman, Joshua M., Hagler, Donald J., Schork, Andrew, Searcy, Yvonne, Bellugi, Ursula, Halgren, Eric, Dale, Anders M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443907/
https://www.ncbi.nlm.nih.gov/pubmed/28560159
http://dx.doi.org/10.1016/j.nicl.2017.05.011
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author Fan, Chun Chieh
Brown, Timothy T.
Bartsch, Hauke
Kuperman, Joshua M.
Hagler, Donald J.
Schork, Andrew
Searcy, Yvonne
Bellugi, Ursula
Halgren, Eric
Dale, Anders M.
author_facet Fan, Chun Chieh
Brown, Timothy T.
Bartsch, Hauke
Kuperman, Joshua M.
Hagler, Donald J.
Schork, Andrew
Searcy, Yvonne
Bellugi, Ursula
Halgren, Eric
Dale, Anders M.
author_sort Fan, Chun Chieh
collection PubMed
description Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile. The predictive performances are robust within the training cohort (10-fold cross-validation, AUC = 1.0) and accurately identify all WS individuals in an independent child WS cohort (seven WS, 59 children with diverse developmental status, AUC = 1.0). The WS-specific neuroanatomical profile includes measurements in the orbitofrontal cortex, superior parietal cortex, Sylvian fissures, and basal ganglia, and variability within these areas related to the underlying size of hemizygous deletion in patients with partial deletions. The profile intensity mediated the overall cognitive impairment as well as personality features related to hypersociability. Our results imply that the unique behaviors in WS were mediated through the constellation of abnormalities in cortical-subcortical circuitry consistent in child WS and adult WS. The robustness of the derived WS-specific neuroanatomical profile also demonstrates the potential utility of our approach in both clinical and research applications.
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spelling pubmed-54439072017-05-30 Williams syndrome-specific neuroanatomical profile and its associations with behavioral features Fan, Chun Chieh Brown, Timothy T. Bartsch, Hauke Kuperman, Joshua M. Hagler, Donald J. Schork, Andrew Searcy, Yvonne Bellugi, Ursula Halgren, Eric Dale, Anders M. Neuroimage Clin Regular Article Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile. The predictive performances are robust within the training cohort (10-fold cross-validation, AUC = 1.0) and accurately identify all WS individuals in an independent child WS cohort (seven WS, 59 children with diverse developmental status, AUC = 1.0). The WS-specific neuroanatomical profile includes measurements in the orbitofrontal cortex, superior parietal cortex, Sylvian fissures, and basal ganglia, and variability within these areas related to the underlying size of hemizygous deletion in patients with partial deletions. The profile intensity mediated the overall cognitive impairment as well as personality features related to hypersociability. Our results imply that the unique behaviors in WS were mediated through the constellation of abnormalities in cortical-subcortical circuitry consistent in child WS and adult WS. The robustness of the derived WS-specific neuroanatomical profile also demonstrates the potential utility of our approach in both clinical and research applications. Elsevier 2017-05-18 /pmc/articles/PMC5443907/ /pubmed/28560159 http://dx.doi.org/10.1016/j.nicl.2017.05.011 Text en © 2017 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Regular Article
Fan, Chun Chieh
Brown, Timothy T.
Bartsch, Hauke
Kuperman, Joshua M.
Hagler, Donald J.
Schork, Andrew
Searcy, Yvonne
Bellugi, Ursula
Halgren, Eric
Dale, Anders M.
Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title_full Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title_fullStr Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title_full_unstemmed Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title_short Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
title_sort williams syndrome-specific neuroanatomical profile and its associations with behavioral features
topic Regular Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443907/
https://www.ncbi.nlm.nih.gov/pubmed/28560159
http://dx.doi.org/10.1016/j.nicl.2017.05.011
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