White matter microstructural deficits in 22q11.2 deletion syndrome.

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TitleWhite matter microstructural deficits in 22q11.2 deletion syndrome.
Publication TypeJournal Article
Year of Publication2017
AuthorsRoalf, DR, J Schmitt, E, Vandekar, SN, Satterthwaite, TD, Shinohara, RT, Ruparel, K, Elliott, MA, Prabhakaran, K, McDonald-McGinn, DM, Zackai, EH, Gur, RC, Emanuel, BS, Gur, RE
JournalPsychiatry Res Neuroimaging
Volume268
Pagination35-44
Date Published2017 Oct 30
ISSN1872-7506
KeywordsAnisotropy, Case-Control Studies, Diffusion Tensor Imaging, DiGeorge Syndrome, Female, Gyrus Cinguli, Humans, Male, White Matter, Young Adult
Abstract

Diffusion tensor imaging (DTI) studies in 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with psychosis, report brain white matter (WM) microstructure aberrations. Several studies report that WM disruptions in 22q11DS are similar to deficits in idiopathic schizophrenia. Yet, DTI results in 22q11DS are inconsistent. We used DTI to compare WM structure in 22q11DS individuals to healthy controls (HC) and explored WM differences in 22q11DS with (+) and without (-) psychosis spectrum symptoms. We examined 39 22q11DS individuals and 39 age, sex and race equivalent HC. DTI was performed at 3T using a 64-direction protocol. Fractional anisotropy (FA) was lower, while radial diffusivity was higher in 22q11DS within the cingulum bundle. Mean diffusivity was lower in the inferior longitudinal fasciculus, while axial diffusivity (AD) was lower in the cingulum bundle, forceps major, and several posterior to anterior fasciculi. 22q11DS+ had lower FA in the cingulum bundle and lower AD in the uncinate fasciculus compared to 22q11DS-. Overall, we found aberrant WM microstructure in individuals with 22q11DS compared to age and sex matched HC and exploratory analysis indicated subtle WM deficits associated with psychosis. The findings highlight the dysfunction of WM microstructure in 22q11DS and its potential importance in elucidating WM abnormalities in psychosis.

DOI10.1016/j.pscychresns.2017.08.001
Alternate JournalPsychiatry Res Neuroimaging
PubMed ID28865345
PubMed Central IDPMC5814141
Grant ListP50 MH096891 / MH / NIMH NIH HHS / United States
R01 MH112847 / MH / NIMH NIH HHS / United States
T32 MH065218 / MH / NIMH NIH HHS / United States
U01 MH087626 / MH / NIMH NIH HHS / United States
K23 MH108736 / MH / NIMH NIH HHS / United States
K23 MH098130 / MH / NIMH NIH HHS / United States
RC2 MH089924 / MH / NIMH NIH HHS / United States
K01 MH102609 / MH / NIMH NIH HHS / United States
K01 ES026840 / ES / NIEHS NIH HHS / United States
U54 HD086984 / HD / NICHD NIH HHS / United States
U01 MH087636 / MH / NIMH NIH HHS / United States
R01 MH107703 / MH / NIMH NIH HHS / United States
RC2 MH089983 / MH / NIMH NIH HHS / United States