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

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


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Basal Ganglia / diagnostic imaging*
  • Cerebral Cortex / diagnostic imaging*
  • Cognitive Dysfunction / etiology
  • Cognitive Dysfunction / physiopathology*
  • Cohort Studies
  • Developmental Disabilities / diagnostic imaging
  • Developmental Disabilities / physiopathology
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Male
  • Social Perception
  • Williams Syndrome / complications
  • Williams Syndrome / diagnostic imaging*
  • Williams Syndrome / physiopathology*
  • Young Adult