Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome
Open accessAbstract
Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. In this study, we investigated regional sulcal folding depth as well as global cortical gyrification from fetal brain MRIs. Nine fetuses with DS (29.1 ± 4.24 gestational weeks [mean ± standard deviation]) were compared with 17 typically developing [TD] fetuses (28.4 ± 3.44). Fetuses with DS showed lower whole-brain average sulcal depths and gyrification index than TD fetuses. Significant decreases in sulcal depth were found in bilateral Sylvian fissures and right central and parieto-occipital sulci. On the other hand, significantly increased sulcal depth was shown in the left superior temporal sulcus, which is related to atypical hemispheric asymmetry of cortical folding. Moreover, these group differences increased as gestation progressed. This study demonstrates that regional sulcal depth is a sensitive marker for detecting alterations of cortical development in DS during fetal life, which may be associated with later neurocognitive impairment.
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Gross anatomical differences in brain structure are apparent in fetal and neonatal brains of individuals with Down syndrome, including reductions in overall brain volume, white matter volume, gyral complexity, sulcal depth and growth of the cortical plate.
“Gross anatomical differences in brain structure are apparent in the fetal and neonatal brains of individuals with DS, including reductions in overall brain volume, white matter volume, gyral complexity, sulcal depth and growth of the cortical plate6,8–15.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [14]
The Abstract and Discussion report reduced average sulcal depth and gyrification in fetuses with Down syndrome. The Introduction describes altered cortical-plate growth and cites smaller brains and reduced white-matter volume in children, but does not establish all those reductions in fetuses or neonates. The Discussion specifically says a previous fetal study found no difference in whole-brain volume. (LLM, conf=0.90)
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“The definition of GI is the area ratio between the cortical surface and the convex hull (Zilles et al. 1988; Harris et al. 2004; Gaser et al. 2006; Schaer et al. 2006).”
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Consequences of trisomy 21 for brain development in Down syndrome
Russo, M. L., Sousa, A. M. M., & Bhattacharyya, A. (2024) · Nature Reviews Neuroscience · doi:10.1038/s41583-024-00866-2 · Cited by 28 · see citing works
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- Authors
- Yun, H. J., Perez, J. D. R., Sosa, P., Valdés, J. A., Madan, N., Kitano, R., Akiyama, S., Skotko, B. G., Feldman, H. A., Bianchi, D. W., Grant, P. E., Tarui, T., & Im, K.
- Affiliations
- Boston Children's Hospital (US)
- Tufts Medical Center (US)
- Massachusetts General Hospital (US)
- National Institutes of Health (US)
- Corresponding author
- Im, Kiho
- ORCID
- Venue
- Cerebral Cortex
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-09-17
- Volume
- 31
- Issue
- 2
- Pages
- 757-767
- ISSN
- 1047-3211 (ISSN-L)
- 1460-2199
- PMC
- PMC7786357
- OpenAlex
- W3087738958
- Cited by
- 33
- References
- 6
- Citations by year
- 2026: 8 · 2025: 6 · 2024: 7 · 2023: 6 · 2022: 4 · 2021: 1 · 2020: 1
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Cerebral Cortex (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (R21HD094130, K23HD079605)
- Jerome Lejeune Foundation
- Susan Saltonstall Foundation
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Down syndrome, fetal brain, cortical gyrification, gyrification index, fetal brain MRI, cortical folding, hemispheric lateralization, superior temporal sulcus, Sylvian fissure, gestational age, neurocognitive impairment, brain development
- MeSH terms
- Adolescent, Adult, Cerebral Cortex, Down Syndrome, Female, Fetus, Gestational Age, Humans, Image Processing, Computer-Assisted, Infant, Newborn, Magnetic Resonance Imaging, Maternal Age, Pregnancy, Prenatal Diagnosis, Fetal Development, Young Adult, Neuroimaging
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