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.
Highlights
Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume
As expected, the mean FSIQ of those with 22q11DS was significantly lower; mean strengths and difficulties questionnaire (SDQ), autism screening questionnaire (ASQ) and schizotypy scores were higher in VCFS individuals than controls
The centre of the most significant cluster was localised to the WM of the superior thalamic radiation and the cluster encompassed the: 1) projections from the thalamus to the parietal lobe via the posterior limb of the internal capsule; 2) projections from the motor cortex of the frontal lobe to the posterior limb of the internal capsule via the superior region of the corona radiata; 3) tapetum (Dejerine 1895; Crosby et al 1962) lateral to the posterior horn of the lateral ventricle; 4) posterior thalamic radiation; and 5) the fronto-parietal course of the arcuate fasciculus (AF) (Fig. 1, Table 2)
Summary
Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. 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. Jones Cardiff University Brain Research Imaging Centre (CUBRIC), School of Psychology, Cardiff University, Cardiff, UK. 22q11 Deletion Syndrome (22q11DS) is the most frequent human genetic deletion syndrome (Gothelf and Lombroso 2001) with an approximate incidence of 1 per 4,000 live births (Oskarsdottir et al 2004).
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
