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Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome
Contestabile A, Benfenati F, Gasparini L.. Progress in neurobiology, 2010-01-25
Topic: Risk, prevention and care in population studies
Down syndrome (DS) is the leading cause of genetically-defined intellectual disability and congenital birth defects. Despite being one of the first genetic diseases identified, only recently, thanks to the phenotypic analysis of DS mouse genetic models, we have begun to understand how trisomy may impact cognitive function. Cognitive disabilities in DS appear to result mainly from two pathological processes: neurogenesis impairment and Alzheimer-like degeneration. In DS brain, suboptimal network architecture and altered synaptic communication arising from neurodevelopmental impairment are key determinants of cognitive defects. Hypocellularity and hypoplasia start at early developmental stages and likely depend upon impaired proliferation of neuronal precursors, resulting in reduction of numbers of neurons and synaptic contacts. The impairment of neuronal precursor proliferation extends to adult neurogenesis and may affect learning and memory. Neurodegenerative mechanisms also contribute to DS cognitive impairment. Early onset Alzheimer disease occurs with extremely high incidence in DS patients and is causally-related to overexpression of beta-amyloid precursor protein (betaAPP), which is one of the triplicated genes in DS. In this review, we will survey the available findings on neurodevelopmental and neurodegenerative changes occurring in DS throughout life. Moreover, we will discuss the potential mechanisms by which defects in neurogenesis and neurodegenerative processes lead to altered formation of neural circuits and impair cognitive function, in connection with findings on pharmacological treatments of potential benefit for DS.
Key findings
- Cognitive disabilities in DS appear to result mainly from two pathological processes: neurogenesis impairment and Alzheimer-like degeneration.
Why it matters
This review states that cognitive disabilities in Down syndrome result mainly from two processes: impaired neurogenesis and Alzheimer-like degeneration, with early onset Alzheimer disease linked to overexpression of beta-amyloid precursor protein. It describes mechanisms only and offers no treatment, cure, or prevention.
Study details
- Evidence strengthLow
How this study scored 40/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Progress in neurobiology) |
| Journal's citation record | 3 / 4 | Progress in Neurobiology: journal h-index 325 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2010 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 133 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.4 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 10.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 8 other studies in this library |
| Still being cited | 1 / 4 | Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Laura Gasparini: h-index 33 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | Italian Institute of Technology: institution h-index 482 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20097253) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 40 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Contestabile, A., Benfenati, F., & Gasparini, L. (2010). Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome. Progress in neurobiology. https://doi.org/10.1016/j.pneurobio.2010.01.003
Vancouver
Contestabile A, Benfenati F, Gasparini L. Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome. Progress in neurobiology. 2010. doi:10.1016/j.pneurobio.2010.01.003. PMID: 20097253.
BibTeX
@article{contestabile2010-20097253,
author = {Contestabile, A. and Benfenati, F. and Gasparini, L.},
title = {{Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome}},
journal = {Progress in neurobiology},
year = {2010},
doi = {10.1016/j.pneurobio.2010.01.003},
pmid = {20097253},
url = {https://doi.org/10.1016/j.pneurobio.2010.01.003}
}
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