White matter microarchitecture in children with 7q11.23 duplication syndrome

Authors

• SE Grogans
• TA Nash
• O Ravindranath
• MM O'Brien
• DL Currin
• JS Kippenhan
• P Kohn
• DP Eisenberg
• MD Gregory
• CB Mervis
• KF Berman

Abstract

7q11.23 duplication syndrome (Dup7) is a rare neurodevelopmental disorder caused by an extra copy of the genes deleted in Williams syndrome (WS). In contrast to WS, Dup7 is typified by severe social anxiety. We used diffusion tensor imaging (DTI) to investigate the neural underpinnings of this Dup7 phenotype. DTI data were acquired in 12 children with Dup7 (mean age=13.2, range 8.7-17.8; five girls) and 29 typically developing children (TDCs; mean age=13.6, range 7.6-18.0; 13 girls). After preprocessing with TORTOISE, each child’s native space fractional anisotropy (FA) map was warped into study-specific-template space using ANTs. Voxelwise analyses tested for group differences in FA and age-by-group interactions. We further assessed whether FA in regions with significant group differences was significantly associated with the social phobia subscore of the Spence Children’s Anxiety Scale (SCAS-SP). Children with Dup7 had increased FA in the left superior longitudinal fasciculus and the corticospinal tract bilaterally, but attenuated FA in the left uncinate fasciculus (UF), anterior thalamic radiations, and forceps major bilaterally (p’s

Scientific Focus Area: Neuroscience

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