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Down Syndrome
Pal A, Daley SF.. StatPearls Publishing, Treasure Island (FL), 2026-02-20
Topic: Risk, prevention and care in population studies
Down syndrome is the most common viable autosomal trisomy, resulting from an extra copy of chromosome 21, and is the leading genetic cause of intellectual disability. Down syndrome was first described in 1866 by the English physician John Langdon Down, who recognized its distinct constellation of physical and developmental features. The genetic basis of this condition was established in 1959 at the Paris laboratory of pediatrician Raymond Turpin, where trisomy 21 was identified by his students, Marthe Gautier and Jérôme Lejeune. The attribution of this discovery remains debated, particularly concerning the respective contributions of Gautier and Lejeune. Down syndrome, also known as trisomy 21, is characterized by a recognizable pattern of congenital anomalies and neurodevelopmental differences, with variable involvement of multiple organ systems. Although life expectancy has improved significantly in recent decades, individuals with Down syndrome experience unique health needs throughout their lifespan, including heightened risks of heart disease if congenital heart defects are present, hematologic disorders, autoimmune diseases, sleep-disordered breathing, sensory impairments, and neurological conditions such as early-onset Alzheimer disease. Updated guidance emphasizes the importance of family-centered counseling, early detection of comorbidities, and coordinated interprofessional care spanning childhood through adulthood (see Image. Newborn with Down Syndrome).
Key findings
- Although life expectancy has improved significantly in recent decades, individuals with Down syndrome experience unique health needs throughout their lifespan, including heightened risks of heart disease if congenital heart defects are present, hematologic disorders, autoimmune diseases, sleep-disordered breathing, sensory impairments, and neurological conditions such as early-onset Alzheimer disease.
Why it matters
This is a general review of Down syndrome covering its genetics, health needs and the increased risk of early-onset Alzheimer disease. It provides background and guidance rather than testing any treatment, cure or prevention.
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. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 27 of the 64 points we could judge it on, which is 42 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (StatPearls Publishing, Treasure Island (FL)) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 5 / 5 | 2026 — within 1 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 | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30252272) |
| Free to read | 2 / 2 | Free to read |
| Points | 27 / 64 | Scored on 12 of 20 parts. We have no data for the rest, so they are left out: 27 of the 64 points we could judge it on is 42 out of 100. |
| Total | 42 / 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. This record has no DOI, so the citation leaves it out. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Pal, A., & Daley, S. F. (2026). Down Syndrome. StatPearls Publishing, Treasure Island (FL).
Vancouver
Pal A, Daley SF. Down Syndrome. StatPearls Publishing, Treasure Island (FL). 2026. PMID: 30252272.
BibTeX
@article{pal2026-30252272,
author = {Pal, A. and Daley, S. F.},
title = {{Down Syndrome}},
journal = {StatPearls Publishing, Treasure Island (FL)},
year = {2026},
pmid = {30252272}
}