Brain circuit pathology in Down syndrome: from neurons to neural networks
Open accessAbstract
Down syndrome (DS), a genetic pathology caused by triplication of chromosome 21, is characterized by brain hypotrophy and impairment of cognition starting from infancy. While studies in mouse models of DS have elucidated the major neuroanatomical and neurochemical defects of DS, comparatively fewer investigations have focused on the electrophysiology of the DS brain. Electrical activity is at the basis of brain functioning. Therefore, knowledge of the way in which brain circuits operate in DS is fundamental to understand the causes of behavioral impairment and devise targeted interventions. This review summarizes the state of the art regarding the electrical properties of the DS brain, starting from individual neurons and culminating in signal processing in whole neuronal networks. The reported evidence derives from mouse models of DS and from brain tissues and neurons derived from individuals with DS. EEG data recorded in individuals with DS are also provided as a key tool to understand the impact of brain circuit alterations on global brain activity.
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These laminar and cellular imbalances may contribute to the circuit-level pathophysiology observed in Ts21, potentially reflecting disrupted, aberrant cortical connections and altered neuroglial interactions during the early postnatal period.
“These laminar and cellular imbalances may contribute to the circuit-level pathophysiology observed in Ts21 (21), potentially reflecting disrupted, aberrant cortical connections and altered neuroglial interactions during the early postnatal period.”
From Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex (2026) · cites this paper as [21]
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References 370 · Cited by 25
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- Authors
- Bartesaghi, R.
- Affiliations
- University of Bologna (IT)
- Corresponding author
- Bartesaghi, Renata
- ORCID
- Bartesaghi, Renata
- Venue
- Reviews in the Neurosciences
- Publisher
- Walter de Gruyter GmbH
- Published
- 2022-09-29
- Volume
- 34
- Issue
- 4
- Pages
- 365-423
- ISSN
- 0334-1763 (ISSN-L)
- 2191-0200
- OpenAlex
- W4297520083
- Cited by
- 25
- References
- 370
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 9 · 2023: 6
- FWCI
- 0.99
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Reviews in the Neurosciences (publishedVersion, cc-by)
- PubMed (publishedVersion)
- 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 › Cognitive Neuroscience › Neural dynamics and brain function
- Keywords
- Down syndrome, neuronal electrophysiology, artificial neural networks, EEG, mouse models of Down syndrome, cognitive impairment, neural signal processing
- MeSH terms
- Animals, Brain, Cognition, Disease Models, Animal, Down Syndrome, Humans, Neurons, Neural Networks, Computer, Mice
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