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Psychiatry Res Neuroimaging. 2017 Oct 30;268:35-44. doi: 10.1016/j.pscychresns.2017.08.001. Epub 2017 Aug 24.

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

Author information

1
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: roalf@upenn.edu.
2
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
3
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Biostatistics and Epidemiology, Perelman School of Medicine, Philadelphia, PA 19104, USA.
4
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
5
Department of Biostatistics and Epidemiology, Perelman School of Medicine, Philadelphia, PA 19104, USA.
6
Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
7
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
8
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Brain Institute (LiBI) at the University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
9
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
10
Brain Behavior Laboratory, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Brain Institute (LiBI) at the University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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.

KEYWORDS:

22q11.2 deletion syndrome; Cingulum bundle; Diffusion tensor imaging; Fractional anisotropy; Psychosis

PMID:
28865345
PMCID:
PMC5814141
DOI:
10.1016/j.pscychresns.2017.08.001
[Indexed for MEDLINE]
Free PMC Article

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