In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome
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Abstract
22q11.2 deletion syndrome, or 22q11.2DS, is a genetic syndrome associated with high rates of schizophrenia and autism spectrum disorders, in addition to widespread structural and functional abnormalities throughout the brain. Experimental animal models have identified neuronal connectivity deficits, e.g., decreased axonal length and complexity of axonal branching, as a primary mechanism underlying atypical brain development in 22q11.2DS. However, it is still unclear whether deficits in axonal morphology can also be observed in people with 22q11.2DS. Here, we provide an unparalleled in vivo characterization of white matter microstructure in participants with 22q11.2DS (12–15 years) and those undergoing typical development (8–18 years) using a customized magnetic resonance imaging scanner which is sensitive to axonal morphology. A rich array of diffusion MRI metrics are extracted to present microstructural profiles of typical and atypical white matter development, and provide new evidence of connectivity differences in individuals with 22q11.2DS. A recent, large-scale consortium study of 22q11.2DS identified higher diffusion anisotropy and reduced overall diffusion mobility of water as hallmark microstructural alterations of white matter in individuals across a wide age range (6–52 years). We observed similar findings across the white matter tracts included in this study, in addition to identifying deficits in axonal morphology. This, in combination with reduced tract volume measurements, supports the hypothesis that abnormal microstructural connectivity in 22q11.2DS may be mediated by densely packed axons with disproportionately small diameters. Our findings provide insight into the in vivo white matter phenotype of 22q11.2DS, and promote the continued investigation of shared features in neurodevelopmental and psychiatric disorders.
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In 22q11.2 deletion syndrome, advanced diffusion MRI has revealed reduced tract volumes and microstructural features consistent with atypical axonal morphology, strengthening the developmental and translational network perspective on psychosis vulnerability.
“In neurogenetic disorders such as 22q11.2 deletion syndrome, advanced diffusion MRI has revealed reduced tract volumes and microstructural features consistent with atypical axonal morphology, strengthening the developmental and translational network perspective on psychosis vulnerability (Raven et al., 2023).”
From 40 Years of diffusion MRI in the brain: From history to emerging frontiers (2026) · cites this paper as Raven et al., 2023
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Intrinsic functional and structural network organization in the macaque insula
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“2 deletion syndrome, advanced diffusion MRI has revealed reduced tract volumes and microstructural features consistent with atypical axonal morphology, strengthening the developmental and translational network perspective on psychosis vulnerability ( Raven et al., 2023).”
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- Authors
- Raven, E. P., Veraart, J., Kievit, R. A., Genc, S., Ward, I. L., Hall, J., Cunningham, A., Doherty, J., van den Bree, M. B. M., & Jones, D. K.
- Affiliations
- New York University (US)
- MRC Cognition and Brain Sciences Unit (GB)
- Royal Children's Hospital (AU)
- Cardiff University (GB)
- Corresponding author
- Raven, Erika P.
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2023-07-26
- Volume
- 28
- Issue
- 10
- Pages
- 4342-4352
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC7615578
- OpenAlex
- W4385272347
- Cited by
- 21
- References
- 106
- Citations by year
- 2026: 8 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 3 · 2021: 1
- FWCI
- 2.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Molecular Psychiatry (publishedVersion, cc-by)
- Research Square (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion, cc-by)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Funders
- U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (1F32HD103313-01)
- Marshall-Sherfield Fellowship
- U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (R01NS088040)
- U.S. Department of Health & Human Services | NIH | National Institute of Biomedical Imaging and Bioengineering (P41 EB017183)
- RCUK | Medical Research Council (SUAG/047 G101400, MR/T033045/1)
- Wellcome Trust (102003/Z/13/Z, ISSF, 096646/Z/11/Z, 104943/Z/14/Z)
- Wales Clinical Academic Track Fellowship
- U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01MH119738-01)
- RCUK | Engineering and Physical Sciences Research Council (EP/M029778/1)
- Wolfson Foundation
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced Neuroimaging Techniques and Applications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- 22q11.2 deletion syndrome, white matter microstructure, axon morphology, diffusion MRI, diffusion anisotropy, tract volume, axon diameter, brain development, schizophrenia, autism spectrum disorder, neurodevelopmental disorders
- MeSH terms
- Adolescent, Adult, Brain, Child, DiGeorge Syndrome, Humans, Middle Aged, Schizophrenia, Young Adult, Diffusion Tensor Imaging, White Matter
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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