title: Increased gyrification in Williams syndrome: evidence using 3D MRI methods.
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.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, CA 94305-5719, USA.
authors.forename: J Eric
authors.initials: JE
authors.lastname: Schmitt
authors.forename: Katie
authors.initials: K
authors.lastname: Watts
authors.forename: Stephan
authors.initials: S
authors.lastname: Eliez
authors.forename: Ursula
authors.initials: U
authors.lastname: Bellugi
authors.forename: Albert M
authors.initials: AM
authors.lastname: Galaburda
authors.forename: Allan L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D000328:Adult; D000465:Algorithms; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009421:Nervous System Malformations / Q000150:complications* / Q000175:diagnosis*; D015203:Reproducibility of Results; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics