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Cited by 31Down syndrome and intellectual disability researchDementia and Cognitive Impairment ResearchFetal and Pediatric Neurological Disorders

Structural magnetic resonance imaging demonstrates volumetric brain abnormalities in down syndrome: Newborns to young adults

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McCann, Bernadette, Levman, Jacob, Baumer, Nicole, Lam, Melanie Y., Shiohama, Tadashi, Cogger, Liam, MacDonald, Allissa, Ijner, Prahar +1 more·2021·NeuroImage: Clinical
DOI 10.1016/j.nicl.2021.102815PMC PMC8441087
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Abstract

Down syndrome (DS) is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21 and characterized by intellectual disability. We hypothesize that performing a retrospective analysis of 73 magnetic resonance imaging (MRI) examinations of participants with DS (aged 0 to 22 years) and comparing them to a large cohort of 993 brain MRI examinations of neurotypical participants (aged 0 to 32 years), will assist in better understanding what brain differences may explain phenotypic developmental features in DS, as well as to provide valuable confirmation of prospective literature findings clinically. Measurements for both absolute volumes and volumes corrected as a percentage of estimated total intracranial volume (%ETIV) were extracted from each examination. Our results presented novel findings such as volume increases (%ETIV) in the perirhinal cortex, entorhinal cortex, choroid plexus, and Brodmann's areas (BA) 3a, 3b, and 44, as well as volume decreases (%ETIV) in the white matter of the cuneus, the paracentral lobule, the postcentral gyrus, and the supramarginal gyrus. We also confirmed volumetric brain abnormalities previously discussed in the literature. Findings suggest the presence of volumetric brain abnormalities in DS that can be detected clinically with MRI.

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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 [12]

    The Discussion reports smaller absolute brain volumes and reduced white-matter volumes in several regions in the Down syndrome cohort; it also cites other studies finding abnormal fetal brain development. This paper's own age cohorts begin at birth, and the passages do not establish reduced gyral complexity, sulcal depth, or cortical-plate growth in fetal or neonatal brains. The copy provides no page numbers for these passages. (LLM, conf=0.86)

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  • Neuroanatomical differences in brain size in Down syndrome are present starting at birth.

    “The neuroanatomical differences in size are present starting at birth; changes in volume were identified in multiple cohorts consisting of individuals ranging from 0 months to 5 years of age (Schmidt-Sidor et al., 1990; McCann et al., 2021) implicating onset during fetal development.”

    From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as McCann et al., 2021

    The Results and Discussion report volumetric differences in a 0–5-year cohort, including findings in a 0–2-year subgroup. But Table 1 (Materials and methods > Participants) gives 0.62 years as the youngest age for a participant with Down syndrome, so this study does not establish that the differences are present at birth. (LLM, conf=0.90)

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  • In an MRI study, the youngest cohort (0-5 years) with Down syndrome showed a smaller effect size compared to older cohorts (5-10, 10-15, and 15-20 years), indicating more similarity between individuals with Down syndrome and controls at the younger age.

    “in a detailed MRI study, the youngest cohort (0–5 years) showed a smaller effect size compared to older cohorts (5–10, 10–15, and 15–20 years) indicating more similarly between the individuals with DS and controls at the younger age (McCann et al., 2021).”

    From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as McCann et al., 2021

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Research works printed but not linked: 2

  1. Jarrold, C., Nadel, L., Vicari, S., 2008. Memory and neuropsychology in Down syndrome [WWW Document]. https://dx.doi.org/10.3104/reviews/2068. · DOI
  2. Zollei, L., Ou, Y., Iglesias, J., Grant, P.E., Fischl, B., 2017. FreeSurfer image processing pipeline for infant clinical MRI images, in: Proceedings of the Organization for Human Brain Mapping Conference 1703. Vancouver.

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Authors
McCann, B., Levman, J., Baumer, N., Lam, M. Y., Shiohama, T., Cogger, L., MacDonald, A., Ijner, P., & Takahashi, E.
Affiliations
  • St. Francis Xavier University (CA)
  • Boston Children's Hospital (US)
  • Chiba University (JP)
Corresponding author
Levman, Jacob
ORCID
Venue
NeuroImage: Clinical
Publisher
Elsevier BV
Published
2021
Volume
32
Pages
102815
ISSN
2213-1582 (ISSN-L)
DOI
10.1016/j.nicl.2021.102815
PMC
PMC8441087
OpenAlex
W3197468509
Cited by
30
References
93
Citations by year
2026: 3 · 2025: 6 · 2024: 5 · 2023: 9 · 2022: 5 · 2021: 2
FWCI
4.77
Type
journal article
Language
en
Open access
Licence
Locations
  • NeuroImage Clinical (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • St. Francis Xavier University (R01HD078561, R03NS091587, 231266, R0168020, R0176004)
  • Nova Scotia Health Research Foundation
  • National Institutes of Health (R0176004, 231266, R0168020)
  • National Institute of Mental Health (R21MH118739)
  • National Institute of Neurological Disorders and Stroke (R03NS091587)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R21HD098606, R01HD078561)
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
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
Down syndrome, brain volumetry, perirhinal cortex, entorhinal cortex, choroid plexus, Brodmann area 44, white matter, cuneus, paracentral lobule, supramarginal gyrus, intellectual disability, neuroimaging
MeSH terms
Brain, Down Syndrome, Humans, Infant, Newborn, Magnetic Resonance Imaging, Prospective Studies, Retrospective Studies, Entorhinal Cortex, Young Adult

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