White matter microstructure in 22q11 deletion syndrome

A pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents

Frederick Sundram, Linda E. Campbell, Rayna Azuma, Eileen Daly, Oswald J N Bloemen, Gareth J. Barker, Xavier Chitnis, Derek K. Jones, Therese van Amelsvoort, Kieran C. Murphy, Declan G M Murphy

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. However, there are few in vivo studies of both WM microstructural integrity (as measured using Diffusion Tensor (DT)-MRI) and WM volume in the same individual. We used DT-MRI and structural MRI (sMRI) with voxel based morphometry (VBM) to compare, respectively, the fractional anisotropy (FA) and WM volume of 11 children and adolescents with 22q11DS and 12 controls. Also, within 22q11DS we related differences in WM to severity of schizotypy, and polymorphism of the catechol-O-methyltransferase (COMT) gene. People with 22q11DS had significantly lower FA in inter-hemispheric and brainstem and frontal, parietal and temporal lobe regions after covarying for IQ. Significant WM volumetric increases were found in the internal capsule, anterior brainstem and frontal and occipital lobes. There was a significant negative correlation between increased schizotypy scores and reduced WM FA in the right posterior limb of internal capsule and the right body and left splenium of corpus callosum. Finally, the Val allele of COMT was associated with a significant reduction in both FA and volume of WM in the frontal lobes, cingulum and corpus callosum. Young people with 22q11DS have significant differences in both WM microstructure and volume. Also, there is preliminary evidence that within 22q11DS, some regional differences in FA are associated with allelic variation in COMT and may perhaps also be associated with schizotypy.

Original languageEnglish
Pages (from-to)77-92
Number of pages16
JournalJournal of Neurodevelopmental Disorders
Volume2
Issue number2
DOIs
Publication statusPublished - 2010 Jun

Fingerprint

22q11 Deletion Syndrome
Diffusion Tensor Imaging
Anisotropy
Catechol O-Methyltransferase
Frontal Lobe
Internal Capsule
Diffusion Magnetic Resonance Imaging
Corpus Callosum
Temporal Lobe
Brain Stem
White Matter
Occipital Lobe
Parietal Lobe
Psychotic Disorders
Extremities

Keywords

  • 22q11DS
  • COMT
  • DTI
  • Psychosis
  • VBM
  • VCFS

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cognitive Neuroscience
  • Pediatrics, Perinatology, and Child Health

Cite this

White matter microstructure in 22q11 deletion syndrome : A pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents. / Sundram, Frederick; Campbell, Linda E.; Azuma, Rayna; Daly, Eileen; Bloemen, Oswald J N; Barker, Gareth J.; Chitnis, Xavier; Jones, Derek K.; van Amelsvoort, Therese; Murphy, Kieran C.; Murphy, Declan G M.

In: Journal of Neurodevelopmental Disorders, Vol. 2, No. 2, 06.2010, p. 77-92.

Research output: Contribution to journalArticle

Sundram, F, Campbell, LE, Azuma, R, Daly, E, Bloemen, OJN, Barker, GJ, Chitnis, X, Jones, DK, van Amelsvoort, T, Murphy, KC & Murphy, DGM 2010, 'White matter microstructure in 22q11 deletion syndrome: A pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents', Journal of Neurodevelopmental Disorders, vol. 2, no. 2, pp. 77-92. https://doi.org/10.1007/s11689-010-9043-6
Sundram, Frederick ; Campbell, Linda E. ; Azuma, Rayna ; Daly, Eileen ; Bloemen, Oswald J N ; Barker, Gareth J. ; Chitnis, Xavier ; Jones, Derek K. ; van Amelsvoort, Therese ; Murphy, Kieran C. ; Murphy, Declan G M. / White matter microstructure in 22q11 deletion syndrome : A pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents. In: Journal of Neurodevelopmental Disorders. 2010 ; Vol. 2, No. 2. pp. 77-92.
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