The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities
Open accessAbstract
Background Down syndrome (DS) is the most prevalent chromosomal disorder characterized by intellectual disability, multiple organ anomalies, generalized muscular hypotonia, and characteristic physical features. The presence of DS-associated medical comorbidities has contributed to brain morphologic changes. The aim of this study was to evaluate brain morphologic characteristics during infant and toddler ages in patients with DS using structural brain magnetic resonance imaging. Methods Structural brain T1-weighted magnetic resonance images from participants with DS with complete chromosome 21 trisomy (n = 20; 1.6 ± 0.6 [mean ± standard deviation] years old) were analyzed using FreeSurfer. The measurements were compared with those of 60 gender- and age-matched neurotypical controls by Cohen's d statistic and unpaired t test with false discovery rate correction for multiple comparisons and analyzed using a univariate general linear model with the following DS-associated medical comorbidities: congenital cardiac disease, infantile spasms, and hypothyroidism. Results We identified 27 candidate measurements with large effect sizes (absolute d > 0.8) and statistically significant differences (P < 6.9 × 10-3). Among them were decreased volumes in bilateral cerebellar gray matter and right cerebellar white matter and brainstem and cortical abnormalities in the right superior temporal, right rostral anterior cingulate, and left rostral middle frontal gyrus, independent of comorbid effects. Only bilateral cerebellar gray matter volumes and brainstem volume showed differences between DS and healthy groups during infancy. Conclusion These results suggest that cerebellar gray matter and brainstem may represent the primary regions affected by the presence of an additional copy of chromosome 21.
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“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 [15]
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Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study
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Selective neuroanatornic abnormalities in Down's syndrome and their cognitive correlates
Raz, N., Torres, I. J., Briggs, S. D., Spencer, W. D., Thornton, A. E., Loken, W. J., Gunning, F. M., McQuain, J., Driesen, N. R., & Acker, J. D. (1995) · Neurology · doi:10.1212/wnl.45.2.356 · Cited by 297
Development of the superior temporal neocortex is anomalous in trisomy 21
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Patkee, P. A., Baburamani, A. A., Kyriakopoulou, V., Davidson, A., Avini, E., Dimitrova, R., Allsop, J. M., Hughes, E., Kangas, J., McAlonan, G. M., et al. (2019) · NeuroImage Clinical · doi:10.1016/j.nicl.2019.102139 · Cited by 76
Aging with Down Syndrome—Where Are We Now and Where Are We Going?
Alldred, M. J., Martini, A. C., Patterson, D., Hendrix, J. A., & Granholm, A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10204687 · Cited by 72
Węgiel, J., Flory, M. J., Kuchna, I., Nowicki, K., Wegiel, J., Ma, S. Y., Zhong, N., Wierzba‐Bobrowicz, T., de Leon, M., Lai, F., et al. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01300-9 · Cited by 35
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
“Fetuses and infants with Down syndrome (DS) exhibit gross anatomical deficits in brain structure, including lower whole-brain volume, thinner cortex, and reduced gyral and sulcal complexity 6,9,10,12–15 .”
Hamadelseed, O., Chan, M. K. S., Wong, M. B., & Skutella, T. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1225228 · Cited by 28
Metadata
- Authors
- Shiohama, T., Levman, J., Baumer, N., & Takahashi, E.
- Affiliations
- Boston Children's Hospital (US)
- Corresponding author
- Shiohama, Tadashi
- Venue
- Pediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2019-11
- Volume
- 100
- Pages
- 67-73
- ISSN
- 0887-8994 (ISSN-L)
- PMC
- PMC6755072
- OpenAlex
- W2923678875
- Cited by
- 27
- References
- 36
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 4 · 2022: 9 · 2021: 5 · 2020: 2 · 2019: 1
- FWCI
- 3.91
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- 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 › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Down syndrome, brain structure, cerebellar gray matter, brainstem volume, cerebellar white matter, cortical abnormalities, comorbidities, infantile spasms, hypothyroidism, infants and toddlers, neuroimaging
- MeSH terms
- Brain, Brain Stem, Child, Preschool, Down Syndrome, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Cohort Studies, Comorbidity, Electronic Health Records, Gray Matter
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