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Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study
Abstract
Objective Down's syndrome, the most common genetic cause of mental retardation, results in characteristic physical and neuropsychological findings, including mental retardation and deficits in language and memory. This study was undertaken to confirm previously reported abnormalities of regional brain volumes in Down's syndrome by using high-resolution magnetic resonance imaging (MRI), determine whether these volumetric abnormalities are present from childhood, and consider the relationship between neuroanatomic abnormalities and the cognitive profile of Down's syndrome. Method Sixteen children and young adults with Down's syndrome (age range=5-23 years) were matched for age and gender with 15 normal comparison subjects. High-resolution MRI scans were quantitatively analyzed for measures of overall and regional brain volumes and by tissue composition. Results Consistent with prior imaging studies, subjects with Down's syndrome had smaller overall brain volumes, with disproportionately smaller cerebellar volumes and relatively larger subcortical gray matter volumes. Also noted was relative preservation of parietal lobe gray and temporal lobe white matter in subjects with Down's syndrome versus comparison subjects. No abnormalities in pattern of brain asymmetry were noted in Down's syndrome subjects. Conclusions The results largely confirm findings of previous studies with respect to overall patterns of brain volumes in Down's syndrome and also provide new evidence for abnormal…
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“These cognitive and brain structure deficits emerge as early as 6 months of age and progress to have substantial impacts on daily life, as well as academic and occupational outcomes5–7.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [7]
In the citing paper
“Some areas of the cortex, especially those in the temporal and frontal lobes, exhibit up to 50% fewer cells in individuals with DS than in healthy individuals, whereas other areas, such as the parietal lobe, are largely preserved7.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [7]
In the citing paper
“Cognitive impairment is a hallmark DS phenotype affecting all individuals with Ts21 (Antonarakis et al., 2020) with regions of disproportionately small brain volume including the cerebrum, cerebellum, and hippocampus (Aylward et al., 1999; Kesslak et al., 1994; Pinter et al., 2001; Raz et al., 1995; Weis et al., 1991).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Pinter et al., 2001
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Matthews, D. C., Lukic, A. S., Andrews, R. D., Marendic, B., Brewer, J. B., Rissman, R. A., Mosconi, L., Strother, S. C., Wernick, M. N., Mobley, W. C., et al. (2016) · Alzheimer s & Dementia Translational Research & Clinical Interventions · doi:10.1016/j.trci.2016.02.004 · Cited by 59
A volumetric magnetic resonance imaging study of brain structures in children with Down syndrome
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Cramer, N., & Galdzicki, Z. (2012) · Neural Plasticity · doi:10.1155/2012/101542 · Cited by 60
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Laguna, A., Barallobre, M. J., Marchena, M., Mateus, C., Ramírez, E., Martínez‐Cué, C., Delabar, J. M., Castelo-Branco, M. S., de la Villa, P., & Arbonés, M. L. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt125 · Cited by 54
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Williams, A. D., Mjaatvedt, C. H., & Moore, C. S. (2007) · Developmental Dynamics · doi:10.1002/dvdy.21416 · Cited by 57
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Down syndrome gene dosage imbalance on cerebellum development
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Verbal intrusions precede memory decline in adults with Down syndrome
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Neurodevelopment in Down syndrome: Concordance in humans and models
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“In particular, the cerebral cortical hemispheres, cerebellum, and hippocampal formations are significantly reduced in size (Wisniewski, 1990; Golden and Hyman, 1994; Kesslak et al., 1994; Raz et al., 1995; Pinter et al., 2001; Tarui et al., 2020; McCann et al., 2021).”
BackgroundDevelopmental Defects in Trisomy 21 and Mouse Models
Delabar, J. M., Aflalo-Rattenbac, R., & Créau, N. (2006) · The Scientific World JOURNAL · doi:10.1100/tsw.2006.322 · Cited by 47
Metadata
- Authors
- Pinter, J. D., Eliez, S., Schmitt, J. E., Capone, G. T., & Reiss, A. L.
- Affiliations
- University of California, San Francisco (US)
- Seattle Children's Hospital (US)
- Venue
- American Journal of Psychiatry
- Published
- 2001-10-01
- Volume
- 158
- Issue
- 10
- Pages
- 1659-1665
- ISSN
- 0002-953X (ISSN-L)
- 1535-7228
- OpenAlex
- W2139031198
- Cited by
- 452
- References
- 41
- Citations by year
- 2026: 8 · 2025: 18 · 2024: 19 · 2023: 26 · 2022: 26 · 2021: 25 · 2020: 19 · 2019: 23 · 2018: 15 · 2017: 20 · 2016: 20 · 2015: 19 · 2014: 15 · 2013: 18 · 2012: 25
- FWCI
- 8.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (NS01692, K12NS001692)
- National Center for Research Resources (RR 000 52)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD031715, HD31715)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Down syndrome, neuroanatomy, brain volume, cerebellar hypoplasia, subcortical gray matter, white matter, brain asymmetry, cognitive impairment, intellectual disability, fetal brain development, high-resolution MRI
- MeSH terms
- Adolescent, Adult, Age Factors, Brain, Cerebellum, Child, Child, Preschool, Down Syndrome, Female, Frontal Lobe, Humans, Magnetic Resonance Imaging, Male, Parietal Lobe, Temporal Lobe
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