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State-of-the-art therapy for Down syndrome
Lorenzon N, Musoles-Lleó J, Turrisi F, Gomis-González M, De La Torre R, Dierssen M.. Developmental medicine and child neurology, 2023-01-24
Topic: Risk, prevention and care in population studies
In the last decade, an important effort was made in the field of Down syndrome to find new interventions that improve cognition. These therapies have added to the traditional symptomatic treatments and to the drugs for treating Alzheimer disease in the general population repurposed for Down syndrome. Defining next-generation therapeutics will involve biomarker-based therapeutic decision-making, and preventive and multimodal interventions. However, translation of specific findings into effective therapeutic strategies has been disappointingly slow and has failed in many cases at the clinical level, leading to reduced credibility of mouse studies. This is aggravated by a tendency to favour large-magnitude effects and highly significant findings, leading to high expectations but also to a biased view of the complex pathophysiology of Down syndrome. Here, we review some of the most recent and promising strategies for ameliorating the cognitive state of individuals with Down syndrome. We studied the landscape of preclinical and clinical studies and conducted a thorough literature search on PubMed and ClinicalTrials.gov for articles published between June 2012 and August 2022 on therapies for ameliorating cognitive function in individuals with Down syndrome. We critically assess current therapeutic approaches, why therapies fail in clinical trials in Down syndrome, and what could be the path forward. We discuss some intrinsic difficulties for translational research, and the need for a framework that improves the detection of drug efficacy to avoid discarding compounds too early from the companies' pipelines.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Lorenzon, N., Musoles-Lleó, J., Turrisi, F., Gomis-González, M., De La Torre, R., & Dierssen, M. (2023). State-of-the-art therapy for Down syndrome. Developmental medicine and child neurology. https://doi.org/10.1111/dmcn.15517
Vancouver
Lorenzon N, Musoles-Lleó J, Turrisi F, Gomis-González M, De La Torre R, Dierssen M. State-of-the-art therapy for Down syndrome. Developmental medicine and child neurology. 2023. doi:10.1111/dmcn.15517. PMID: 36692980.
BibTeX
@article{lorenzon2023-36692980,
author = {Lorenzon, N. and Musoles-Lleó, J. and Turrisi, F. and Gomis-González, M. and De La Torre, R. and Dierssen, M.},
title = {{State-of-the-art therapy for Down syndrome}},
journal = {Developmental medicine and child neurology},
year = {2023},
doi = {10.1111/dmcn.15517},
pmid = {36692980},
url = {https://doi.org/10.1111/dmcn.15517}
}
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.
Key findings
- This is aggravated by a tendency to favour large-magnitude effects and highly significant findings, leading to high expectations but also to a biased view of the complex pathophysiology of Down syndrome.
Why it matters
This review notes that translating findings from Down syndrome research into effective cognitive therapies has been disappointingly slow and has often failed in clinical trials. It calls for biomarker-based decision-making and preventive, multimodal approaches, but reports no therapy that has been shown to treat, cure or prevent Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 42/100
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 (Developmental medicine and child neurology) |
| Journal's citation record | 2 / 4 | Developmental Medicine & Child Neurology: journal h-index 227 (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 | 3 / 5 | 2023 — within 6 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 22 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.4 citations a year over 5 year(s) since 2023 |
| Impact for its field and year | 3 / 6 | Cited 5.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 1 other studies in this library |
| Still being cited | 2 / 4 | Cited 20 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Mara Dierssen: h-index 61 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Universitat Pompeu Fabra: institution h-index 747 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 9 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 36692980) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 42 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1111/dmcn.15517
- PubMed: 36692980
- Original source →
- Free full text: Developmental Medicine & Child Neurology →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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