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Clinical aspects of Down syndrome from infancy to adulthood
Pueschel SM.. American journal of medical genetics. Supplement, 1990-01-01
Topic: Risk, prevention and care in population studies
Plain-language summary
In past decades, most individuals with Down syndrome were usually not afforded adequate medical care. Many children with Down syndrome were institutionalized and they were often deprived of all but the most elementary medical services. Fortunately, there have been major improvements in the health care provision during the past 20 years. Professionals who are providing services to persons with Down syndrome need to be aware of those clinical conditions that are more often observed in this population. Certain congenital anomalies (congenital cataracts, anomalies of the gastrointestinal tract, and congenital heart disease) often require immediate attention, as some of them may be life threatening. During the subsequent childhood years a number of clinical conditions and disorders such as infectious diseases, increased nutritional intake, periodontitis, seizure disorders, sleep apnea, visual impairment, audiologic deficits, thyroid dysfunction, and skeletal problems usually occur at a higher prevalence. During adolescence specific aspects of maturation and certain health issues (skin infections, thyroid disorders, increased weight gain, and others) as well as mental health concerns need to be taken into consideration. Similar concerns may also be observed during adulthood which in addition is often marked by accelerated aging and the threat of Alzheimer disease in some persons with Down syndrome. Special attention needs to be paid to these disorders and conditions during the lifetime of a person with Down syndrome. Appropriate medical care should be provided to and no form of treatment should be withheld from a person with Down syndrome that would be given unhesitatingly to an individual without this chromosome disorder.
What this study adds
Evidence grade: Low
This is a narrative review. This clinical review describes health conditions seen across the lifespan in Down syndrome and notes that adulthood is often marked by accelerated aging and the threat of Alzheimer disease in some people. It is descriptive and offers no treatment, cure or prevention.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Pueschel, S. M. (1990). Clinical aspects of Down syndrome from infancy to adulthood. American journal of medical genetics. Supplement. https://doi.org/10.1002/ajmg.1320370708
Vancouver
Pueschel SM. Clinical aspects of Down syndrome from infancy to adulthood. American journal of medical genetics. Supplement. 1990. doi:10.1002/ajmg.1320370708. PMID: 2149974.
BibTeX
@article{pueschel1990-2149974,
author = {Pueschel, S. M.},
title = {{Clinical aspects of Down syndrome from infancy to adulthood}},
journal = {American journal of medical genetics. Supplement},
year = {1990},
doi = {10.1002/ajmg.1320370708},
pmid = {2149974},
url = {https://doi.org/10.1002/ajmg.1320370708}
}
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
- During the subsequent childhood years a number of clinical conditions and disorders such as infectious diseases, increased nutritional intake, periodontitis, seizure disorders, sleep apnea, visual impairment, audiologic deficits, thyroid dysfunction, and skeletal problems usually occur at a higher prevalence.
- During adolescence specific aspects of maturation and certain health issues (skin infections, thyroid disorders, increased weight gain, and others) as well as mental health concerns need to be taken into consideration.
- Similar concerns may also be observed during adulthood which in addition is often marked by accelerated aging and the threat of Alzheimer disease in some persons with Down syndrome.
- Special attention needs to be paid to these disorders and conditions during the lifetime of a person with Down syndrome.
- Appropriate medical care should be provided to and no form of treatment should be withheld from a person with Down syndrome that would be given unhesitatingly to an individual without this chromosome disorder.
Why it matters
This clinical review describes health conditions seen across the lifespan in Down syndrome and notes that adulthood is often marked by accelerated aging and the threat of Alzheimer disease in some people. It is descriptive and offers no treatment, cure or prevention.
Study details
- Evidence strengthLow
How this study scored 34/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / 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 multicenter collaboration, so those were left out: it earned 22 of the 64 points we could judge it on, which is 34 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (American journal of medical genetics. Supplement) |
| 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 | 1 / 5 | 1990 — older than 20 years, still counted |
| 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (OpenAlex dates this DOI to 2005, the record says 1990; OpenAlex values not used) — 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 | 1 / 6 | Cited by 1 other studies in this library |
| 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 |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 2149974) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 22 / 64 | Scored on 12 of 20 parts. We have no data for the rest, so they are left out: 22 of the 64 points we could judge it on is 34 out of 100. |
| Total | 34 / 100 | — |
What each of these 20 components measures, and what this score is not →
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