Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study

Pinter, Joseph D.; Eliez, Stephan; Schmitt, J. Eric; Capone, George T.; Reiss, Allan L.

doi:10.1176/appi.ajp.158.10.1659

Cited by 452Down syndrome and intellectual disability researchDementia and Cognitive Impairment ResearchGenetics and Neurodevelopmental Disorders

Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study

Pinter, Joseph D., Eliez, Stephan, Schmitt, J. Eric, Capone, George T., Reiss, Allan L.·2001·American Journal of Psychiatry

DOI 10.1176/appi.ajp.158.10.1659

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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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Cognitive and brain structure deficits in Down syndrome emerge as early as 6 months of age and progress to have substantial impacts on daily life, academic and occupational outcomes.
“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]
Some areas of the cortex, especially those in the temporal and frontal lobes, exhibit up to 50% fewer cells in individuals with Down syndrome than in healthy individuals, whereas other areas, such as the parietal lobe, are largely preserved.
“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]
Regions of disproportionately small brain volume in DS include the cerebrum, cerebellum, and hippocampus.
“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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A volumetric magnetic resonance imaging study of brain structures in children with Down syndrome
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Correlating MRI-Based Brain Volumetry and Cognitive Assessment in Down Syndrome PatientsPreprint
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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)
ORCID: Schmitt, J. Eric
Capone, George T.
Reiss, Allan L.
Venue: American Journal of Psychiatry
Publisher: American Psychiatric Association Publishing
Published: 2001-10-01
Volume: 158
Issue: 10
Pages: 1659-1665
ISSN: 0002-953X (ISSN-L)
1535-7228
DOI: 10.1176/appi.ajp.158.10.1659
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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Neuroanatomy of Down’s Syndrome: A High-Resolution MRI Study

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