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Down syndrome: A curative prospect?
Rondal JA.. AIMS neuroscience, 2020-06-22
Topic: Risk, prevention and care in population studies
Experimental work regarding corrective actions on chromosomes and genes, and control of gene products is yielding promising results. It opens the way to advances in dealing with the etiological aspects of Down syndrome and may lead to important changes in the life of individuals affected with this condition. A small number of molecules are being investigated in pharmacological research that may have positive effects on intellectual functioning. Studies of the pathological consequences of the amyloid cascade and the TAU pathology in the etiology of Alzheimer disease (AD), which is more frequent and occuring earlier in life in persons with Down syndrome (DS), are presented. The search for biological markers of AD and ways for constrasting its early manifestations are also discussed.
Key findings
- Experimental work regarding corrective actions on chromosomes and genes, and control of gene products is yielding promising results.
Why it matters
This article discusses experimental work on correcting chromosomes and genes and on controlling gene products in Down syndrome, and notes a small number of molecules being studied for effects on intellectual functioning. It presents these as promising directions, not as established treatments or cures.
Study details
- Evidence strengthLow
How this study scored 33/100
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 (AIMS neuroscience) |
| Journal's citation record | 0 / 4 | AIMS neuroscience: journal h-index 31 (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 | 2 / 5 | 2020 — within 10 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 | 3 / 7 | Cited 16 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 2.0 citations a year over 8 year(s) since 2020 |
| Impact for its field and year | 2 / 6 | Cited 1.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 6 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 1 / 4 | Last-listed author Jean Adolphe Rondal: h-index 15 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Liège: institution h-index 901 (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 32607419) |
| Free to read | 2 / 2 | Free to read |
| Total | 33 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.3934/neuroscience.2020012
- PubMed: 32607419
- Original source →
- Free full text: AIMS neuroscience →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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
Rondal, J. A. (2020). Down syndrome: A curative prospect? AIMS neuroscience. https://doi.org/10.3934/neuroscience.2020012
Vancouver
Rondal JA. Down syndrome: A curative prospect? AIMS neuroscience. 2020. doi:10.3934/neuroscience.2020012. PMID: 32607419.
BibTeX
@article{rondal2020-32607419,
author = {Rondal, J. A.},
title = {{Down syndrome: A curative prospect?}},
journal = {AIMS neuroscience},
year = {2020},
doi = {10.3934/neuroscience.2020012},
pmid = {32607419},
url = {https://doi.org/10.3934/neuroscience.2020012}
}
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