Cited by 28Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersWilliams Syndrome Research

The DOI matches its Crossref record; 229 of the 229 references it cites were found in a registry or an index; 135 of the 246 sources its claims cite were checked for support.

Consequences of trisomy 21 for brain development in Down syndrome

Open access
Russo, Matthew L., Sousa, André M. M., Bhattacharyya, Anita·2024·Nature Reviews Neuroscience

Abstract

The appearance of cognitive deficits and altered brain morphology in newborns with Down syndrome (DS) suggests that these features are driven by disruptions at the earliest stages of brain development. Despite its high prevalence and extensively characterized cognitive phenotypes, relatively little is known about the cellular and molecular mechanisms that drive the changes seen in DS. Recent technical advances, such as single-cell omics and the development of induced pluripotent stem cell (iPSC) models of DS, now enable in-depth analyses of the biochemical and molecular drivers of altered brain development in DS. Here, we review the current state of knowledge on brain development in DS, focusing primarily on data from human post-mortem brain tissue. We explore the biological mechanisms that have been proposed to lead to intellectual disability in DS, assess the extent to which data from studies using iPSC models supports these hypotheses, and identify current gaps in the field.

Overview

AI snapshot

Written from the paper’s full text.

TL;DR

This review synthesizes evidence from human post-mortem tissue and iPSC models on how trisomy 21 disrupts cortical development in Down syndrome, implicating reduced neurogenesis, altered gliogenesis/myelination, and synaptic/network deficits. It argues that heterochrony—altered developmental timing—may reconcile seemingly contradictory findings and highlights major gaps in human tissue and model systems.

Key findings

  • Brain structural and cellular deficits emerge early: temporal and frontal lobes can have up to 50% fewer cells in individuals with DS than in healthy individuals, while the parietal lobe is largely preserved; cognitive and brain-structure deficits appear as early as 6 months of age.
  • Reduced neurogenesis is supported by fewer neurons in fetal cortex, cerebellum, and hippocampus, fewer proliferating cells (Ki67/cyclin markers), and fewer SOX2+ progenitors, but existing data do not distinguish slower progenitor proliferation from premature cell cycle exit.
  • Altered gliogenesis and myelination include increased astrocytes in fetal DS brain and T21 iPSC cultures, transcriptomic evidence of defective oligodendrocyte differentiation and myelination, and increased OLIG2+ progenitors in some iPSC studies.
  • Synaptic and network deficits include fewer dendritic spines and abnormal spine morphology in infants with DS as young as 2 months, reduced late-fetal postsynaptic density width/length, reduced excitatory synaptic density and transmission in T21 iPSC-derived neurons, little to no LTP/LTD in vitro, reduced alpha power at 6 months, and disrupted or absent sleep spindles in the first year.

Methods

  • Design: narrative review focused primarily on human post-mortem brain tissue and human iPSC/stem cell models, with mouse models discussed for comparison.
  • Data/sample: published studies spanning prenatal to adult human brain, including transcriptomic (microarray) analysis of cortex and cerebellum, histological and electron microscopy studies, electrophysiology, EEG, and iPSC-derived neural cells/organoids; no new primary data are presented.
  • Analysis: synthesis of proposed mechanisms across neurodevelopmental phases—progenitor proliferation, neurogenesis, gliogenesis, neuronal migration, and synaptogenesis—and assessment of how well iPSC models support hypotheses and where gaps remain.

Limitations

  • Stated in the paper: limited availability of human brain tissue, especially from prenatal periods, means post-mortem DS studies are often underpowered; mouse models cannot fully replicate human T21 because HSA21 genes are localized on at least three murine chromosomes and species neurodevelopment differs; iPSC models have variability, limited functional maturation, reduced complexity, and immaturity.
  • Stated in the paper: iPSC results on neurogenesis and cell death are discordant; interneuron and oligodendrocyte data are limited; no comprehensive in vivo picture exists across development, and the impact of T21 on cortical arealization is completely unknown.
  • Evident from the text: as a narrative review, it does not use a systematic search protocol or quantitative synthesis, and its conclusions rely on heterogeneous studies and model systems.

Model-written summary. Check it against the paper before relying on it.

Integrity signals

Registry

Crossref · 10.1038/s41583-024-00866-2

Cites

229 of 229 references verified0 citation errors · 0 not checkable

Statistics

Nothing to recompute.

Verification

Claims the paper makes

135 of 246 cited sources checked · 51 supported · 2 flagged · accuracy not yet measured

Show all 81 claims

  • It may state two separate claims as one. 44
  • Probably not a substantial claim. 10
51 of 51
  • The paper relies on this without support.

    Relatively little is known about the cellular and molecular mechanisms that drive the changes seen in Down syndrome.

    “Despite its high prevalence and extensively characterized cognitive phenotypes, relatively little is known about the cellular and molecular mechanisms that drive the changes seen in DS.”
  • The paper relies on this without support.

    The exact processes affected and the cellular and molecular mechanisms that drive the phenotypes in Down syndrome are unknown.

    “The early emergence of structural deficits in the brains of individuals with DS implies disruptions to early neurodevelopment, but the exact processes that are affected and the cellular and molecular mechanisms that drive these phenotypes are unknown.”
  • The paper relies on this without support.

    The impact of trisomy 21 on cortical arealization is completely unknown.

    “The impact of T21 on cortical arealization is completely unknown.”
  • The paper relies on this without support.

    Whether and how increased cell death contributes to reduced neuron number in cortical development in Down syndrome has not yet been resolved.

    “Thus, whether and how increased cell death contributes to reduced neuron number in cortical development in DS have not yet been resolved.”
  • The paper relies on this without support.

    Which cell type is being analysed in fetal tissue and whether there are indeed more astrocytes or an imbalance in neuron and astrocyte populations are unclear.

    “Thus, which cell type is being analysed in fetal tissue and whether there are indeed more astrocytes or an imbalance in neuron and astrocyte populations are unclear.”
  • The paper relies on this without support.

    No studies thus far have assessed the dynamics of the neurogenesis to gliogenesis transition.

    “However, no studies thus far have assessed the dynamics of the neurogenesis to gliogenesis transition.”
  • The paper relies on this without support.

    A detailed understanding of when and how neurogenesis is reduced during cortical development in Down syndrome is still lacking.

    “Thus, T21 iPSC modelling of neurogenesis is complicated and a detailed understanding of when and how neurogenesis is reduced during cortical development in DS is still lacking.”
  • The paper relies on this without support.

    The impact of trisomy 21 on progenitor populations and neurogenesis across development has not been fully described.

    “Whether these neurons are affected in DS has not been established by in vivo studies, and the impact of T21 on progenitor populations and neurogenesis across development has not been fully described.”
  • The paper relies on this without support.

    We do not have a comprehensive picture of the impact of trisomy 21 on interneuron populations from post-mortem fetal and postnatal tissue.

    “Because we do not have a comprehensive picture of the impact of T21 on interneuron populations from post-mortem fetal and postnatal tissue, it is difficult to assess how well the iPSC models mimic the in vivo phenotypes and define mechanisms of interneuron development.”
  • The paper relies on this without support.

    The exact reason therapies targeting the altered excitation-inhibition ratio have not yet proven successful in Down syndrome remains unclear.

    “The exact reason these therapies have not yet proven successful remains unclear, but a more thorough understanding of how synaptic function is altered in human T21 neurons may shed light on this issue.”
  • The paper relies on this without support.

    During neurodevelopment, microglia are largely responsible for synaptic pruning and refinement of neuronal networks, and their activity can be modulated by levels of inflammatory cytokines in their extracellular environment.

    “During neurodevelopment, microglia are largely responsible for synaptic pruning and the refinement of neuronal networks, and as the resident macrophages of the brain, their activity can be modulated by the levels of inflammatory cytokines present in their extracellular environment.”
  • The paper relies on this without support.

    Human iPSC-derived neurons provide a model system capable of electrophysiological studies with sufficient power to investigate how DS alters neurotransmission.

    “Human iPSC-derived neurons offer a model system to enable electrophysiological studies with sufficient power to be conducted to investigate how DS alters neurotransmission.”
12 of 12

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Self-check

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Each contradiction between two passages listed here was confirmed by an independent check.

  • Two different papers share the same journal volume and pages

    Minor

    References 30 and 182 assign the same journal, volume and page range to papers with different titles and publication years. At least one citation is internally inconsistent.

1 of 1

Citations

Cites

Items 201–229 of 229

Flagged first, then by citations

Research works printed but not linked: 3

  1. Quinonez, S. C. & Barsh, G. in Pathophysiology of Disease: An Introduction to Clinical Medicine (eds Hammer, G. D. & McPhee, S. J.) Ch. 2 (McGraw-Hill Education, 2019).
  2. Gould, S. J. Ontogeny and Phylogeny 9 (Harvard Univ. Press, 1977).
  3. Down, J. L. H. Observations on an ethnic classification of idiots. Lond. Hospital Rep. 3, 259–262 (1866).

Cited by

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Metadata

Authors
Russo, M. L., Sousa, A. M. M., & Bhattacharyya, A.
Affiliations
University of Wisconsin–Madison (US)
Corresponding author
Bhattacharyya, Anita
Venue
Nature Reviews Neuroscience
Published
2024-10-08
Volume
25
Issue
11
Pages
740-755
ISSN
  • 1471-003X (ISSN-L)
  • 1471-0048
OpenAlex
W4403209500
Cited by
28
References
224
Citations by year
2026: 14 · 2025: 13 · 2024: 1
FWCI
3.43
Type
journal article
Language
en
Open access
Locations
  • Nature reviews. Neuroscience (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (submittedVersion)
Funders
  • Brain Research Foundation (BRFSG-2023-11)
  • Waisman Center (P50HD105353)
  • National Institutes of Health (5p30hd003352-49)
  • National Institute of Mental Health (UM1MH130991)
  • National Institute of Child Health and Human Development (P50-HD105353)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD105353, R01HD106197, P30-HD003352, R01HD111938)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Down syndrome, brain development, intellectual disability, cognitive impairment, brain structure, neurodevelopmental mechanisms, induced pluripotent stem cell models, single-cell omics, postmortem brain
MeSH terms
Animals, Brain, Down Syndrome, Humans, Induced Pluripotent Stem Cells

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