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Neuroimage Clin. 2017 May 18;15:343-347. doi: 10.1016/j.nicl.2017.05.011. eCollection 2017.

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

Author information

1
Department of Cognitive Science, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA; Center for Multimodal Imaging and Genetics, University of California San Diego, School of Medicine, 9452 Medical Center Drive, La Jolla, CA 92093, USA.
2
Center for Multimodal Imaging and Genetics, University of California San Diego, School of Medicine, 9452 Medical Center Drive, La Jolla, CA 92093, USA; Department of Neurosciences, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA; Center for Human Development, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093, USA.
3
Center for Multimodal Imaging and Genetics, University of California San Diego, School of Medicine, 9452 Medical Center Drive, La Jolla, CA 92093, USA.
4
Center for Multimodal Imaging and Genetics, University of California San Diego, School of Medicine, 9452 Medical Center Drive, La Jolla, CA 92093, USA; Department of Radiology, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA.
5
Laboratory for Cognitive Neuroscience, Salk Institute, La Jolla, CA 92037, USA.
6
Department of Neurosciences, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA; Department of Radiology, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA; Center for Human Brain Activity Mapping, University of California San Diego, School of Medicine, 3510 Dunhill Street, San Diego, CA 92121, USA. Electronic address: ehalgren@ucsd.edu.
7
Department of Cognitive Science, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA; Center for Multimodal Imaging and Genetics, University of California San Diego, School of Medicine, 9452 Medical Center Drive, La Jolla, CA 92093, USA; Department of Neurosciences, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA; Department of Radiology, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92037, USA. Electronic address: amdale@ucsd.edu.

Abstract

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.

KEYWORDS:

Magnetic resonance imaging; Neuroanatomy; Social cognition; Williams Syndrome

PMID:
28560159
PMCID:
PMC5443907
DOI:
10.1016/j.nicl.2017.05.011
[Indexed for MEDLINE]
Free PMC Article

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