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40/100

✓ Peer-reviewed alzhub usefulness score 40 out of 100. Getting a diagnosis

Topic: Risk, prevention and care in population studies

Plain-language summary

To study the use of a dementia screening tool in our clinic cohort of adults with Down syndrome. To evaluate the functionality of the NTG-EDSD for Dementia as part of a dementia screening protocol for adults with Down syndrome, we conducted a cohort analysis of patients aged 40 and older followed at the Massachusetts General Hospital Down Syndrome Program, noting any clinical interpretation of dementia or mild cognitive impairment (MCI). From September 2023 to September 2024, 54 NTG-EDSD responses were collected. Of these, 14 patients had a clinical interpretation of dementia and/or MCI, and 40 did not have a clinical interpretation of either. Due to the lack of a defined cutoff for the NTG-EDSD, we evaluated the sensitivity and specificity of the NTG-EDSD across various scoring thresholds: ≥ 30, ≥ 20, ≥ 10, ≥ 5, ≥ 3, ≥ 2, and ≥ 1. Sensitivity decreased, and specificity increased as the threshold score rose. Lower thresholds (e.g., ≥ 1) captured all true positives but at the cost of many false positives, whereas higher thresholds (e.g., ≥ 20) improved specificity and positive predictive value, identifying fewer individuals overall but with greater diagnostic confidence. In a real-world clinical setting, the NTG-EDSD lacks sufficient accuracy as a stand-alone dementia screening tool for adults with Down syndrome but may still be useful for guiding caregiver conversations and identifying the need for further evaluation.

What this study adds

Evidence grade: Moderate

The record lists 14 participants. In this clinic cohort, the NTG-EDSD lacked sufficient accuracy as a stand-alone dementia screening tool for adults with Down syndrome. It may still be useful for guiding caregiver conversations, but no cutoff score provided both good sensitivity and specificity.

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

Santoro, S. L., Spognardi, A. G., Bregman, C., Cottrell, C., Oey, E., Pulsifer, M. B., et al. (2025). Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.64251

Vancouver

Santoro SL, Spognardi AG, Bregman C, Cottrell C, Oey E, Pulsifer MB, et al. Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic. American Journal of Medical Genetics Part A. 2025. doi:10.1002/ajmg.a.64251. PMID: 40923238.

BibTeX

@article{santoro2025-40923238,
  author  = {Santoro, Stephanie L. and Spognardi, Alexa Gozdiff and Bregman, Caroline and Cottrell, Clorinda and Oey, Elizabeth and Pulsifer, Margaret B. and Skotko, Brian G. and Torres, Amy and others},
  title   = {{Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic}},
  journal = {American Journal of Medical Genetics Part A},
  year    = {2025},
  doi     = {10.1002/ajmg.a.64251},
  pmid    = {40923238},
  url     = {https://doi.org/10.1002/ajmg.a.64251}
}

Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.

How to read this study

Design: our record does not state a study design, so check the methods section of the original before weighing the result.
Size: the record lists 14 participants. Ask whether that is enough for the question, and who they were.
Effect: the record gives no effect size, so the summary above cannot say how large any difference was.

What the evidence grade means here

This page is graded moderate. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Moderate means the abstract mentions a cohort, case-control or longitudinal design. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

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Key findings

Lower thresholds (e.g., ≥ 1) captured all true positives but at the cost of many false positives, whereas higher thresholds (e.g., ≥ 20) improved specificity and positive predictive value, identifying fewer individuals overall but with greater diagnostic confidence.

Why it matters

In this clinic cohort, the NTG-EDSD lacked sufficient accuracy as a stand-alone dementia screening tool for adults with Down syndrome. It may still be useful for guiding caregiver conversations, but no cutoff score provided both good sensitivity and specificity.

New to this subject? Start with our plain-English guide: Getting a diagnosis →

Study details

Participants14
Evidence strengthModerate

How this study scored 40/100

Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (American Journal of Medical Genetics Part A)
Journal's citation record	2 / 4	American Journal of Medical Genetics Part A: journal h-index 161 (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	3 / 5	Rated “moderate” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	4 / 5	2025 — within 3 year(s) of the newest study here
Sample size	1 / 4	14 participants
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	3 / 3	Studied in people (participant count stated)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	1 / 7	Cited 1 times (OpenAlex, 2026-10-10)
Citations per year	0 / 5	0.3 citations a year over 3 year(s) since 2025
Impact for its field and year	1 / 6	Cited 0.8× 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	0 / 4	Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	2 / 4	Last-listed author Nicolas Michel Oreskovic: h-index 25 (OpenAlex, whole career)
Institution's track record	3 / 3	Harvard University: institution h-index 3,235 (OpenAlex)
Multicenter collaboration	1 / 3	OpenAlex lists 2 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 40923238)
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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