Mapping Cortical Thickness in Children with 22q11.2 Deletions
Open accessAbstract
The 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, 22q11.2DS) involves cardiac and craniofacial anomalies, marked deficits in visuospatial cognition, and elevated rates of psychosis. Although the mechanism is unknown, characteristic brain alterations may predispose to development of psychosis and cognitive deficits in 22q11DS. We applied cortical pattern matching and new methods for measuring cortical thickness in millimeters to structural magnetic resonance images of 21 children with confirmed 22q11.2 deletions and 13 demographically matched healthy comparison subjects. Thickness was mapped at 65 536 homologous points, based on 3-dimensional distance from the cortical gray-white matter interface to the external gray-cerebrospinal fluid boundary. A pattern of regionally specific cortical thinning was observed in superior parietal cortices and right parietooccipital cortex, regions critical for visuospatial processing, and bilaterally in the most inferior portion of the inferior frontal gyrus (pars orbitalis), a key area for language development. Several of the 30 genes encoded in the deleted segment are highly expressed in the developing brain and known to affect early neuronal migration. These brain maps reveal how haploinsufficiency for such genes can affect cortical development and suggest a possible underlying pathophysiology of the neurobehavioral phenotype.
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Imaging studies in 22q11.2 syndrome have revealed smaller brain volume, decreased cortical thickness in the superior parietal, right parietooccipital and inferior frontal gyrus, heterotopias and fewer gyri, and reduced volume in the hippocampus, cerebellum and amygdala, some of which varies based on the presence of schizophrenia or cognitive deficits.
“Imaging studies in 22q11.2 syndrome have revealed smaller brain volume [361], decreased cortical thickness in the superior parietal, right parietooccipital and inferior frontal gyrus, heterotopias and fewer gyri [27, 193, 314], and reduced volume in the hippocampus [84, 85], cerebellum [49] and amygdala [85], some of which varies based on the presence of schizophrenia or cognitive deficits [20, 31”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [27]
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- Authors
- Bearden, C. E., van Erp, T. G. M., Dutton, R. A., Tran, H., Zimmermann, L., Sun, D., Geaga, J. A., Simon, T. J., Glahn, D. C., Cannon, T. D., Emanuel, B. S., Toga, A. W., & Thompson, P. M.
- Affiliations
- University of California, Los Angeles (US)
- University of California, Davis (US)
- The University of Texas at San Antonio Health Science Center (US)
- Children's Hospital of Philadelphia (US)
- ORCID
- Venue
- Cerebral Cortex
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-10-20
- Volume
- 17
- Issue
- 8
- Pages
- 1889-1898
- ISSN
- 1047-3211 (ISSN-L)
- 1460-2199
- PMC
- PMC2819929
- OpenAlex
- W2171895126
- Cited by
- 92
- References
- 65
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 2 · 2019: 5 · 2018: 4 · 2017: 7 · 2016: 6 · 2015: 7 · 2014: 8 · 2013: 7 · 2012: 7
- FWCI
- 2.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cerebral Cortex (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (AG-016570, P50AG016570)
- National Institute of Mental Health (K23MH074644)
- National Cancer Institute (R01CA039926)
- National Institute of Biomedical Imaging and Bioengineering (EB 01651)
- U.S. National Library of Medicine (LM 05639, R01LM005639)
- National Center for Research Resources (P41RR013642, R21RR019771, RR019771)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD042974)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- 22q11.2 deletion syndrome, cortical thickness, cortical thinning, children, visuospatial processing, psychosis risk, haploinsufficiency, neuronal migration, cortical development, superior parietal cortex, inferior frontal gyrus, language development, neurobehavioral phenotype
- MeSH terms
- Aging, Mental Disorders, Brain Mapping, Cerebral Cortex, Child, Developmental Disabilities, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Image Processing, Computer-Assisted, Intelligence Tests, Functional Laterality, Magnetic Resonance Imaging, Male
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