Increased gyrification in Williams syndrome: evidence using 3D MRI methods

Dev Med Child Neurol. 2002 May;44(5):292-5. doi: 10.1017/s0012162201002109.

Abstract

Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2 Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual-spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age- and sex-matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal (p=0.0227), right occipital (p=0.0249), and left frontal (p=0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Algorithms
  • Brain / abnormalities*
  • Brain / pathology
  • Chromosomes, Human, Pair 7 / genetics
  • Female
  • Humans
  • Image Processing, Computer-Assisted / methods
  • Imaging, Three-Dimensional*
  • Magnetic Resonance Imaging / methods*
  • Male
  • Middle Aged
  • Nervous System Malformations / complications*
  • Nervous System Malformations / diagnosis*
  • Reproducibility of Results
  • Williams Syndrome / complications*
  • Williams Syndrome / diagnosis
  • Williams Syndrome / genetics