Evidence map›Paper›PMID 40458561›Full record

ArticleFrontiers in genetics2025

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.

Angela Krutish, Rebekah Kukurudz-Gorowski, Felippe Borlot, Patrick Frosk, Cheryl Rockman-Greenberg, Aizeddin A Mhanni

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In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Angela KrutishChildren's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Rebekah Kukurudz-GorowskiChildren's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Felippe BorlotDepartment of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada.
Patrick FroskChildren's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Cheryl Rockman-GreenbergChildren's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Aizeddin A MhanniChildren's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Chromosome 16p13.3 deletions cause a contiguous gene deletion syndrome, ATR-16 syndrome. The classic phenotype of ATR-16 syndrome includes either alpha-thalassemia trait or hemoglobin H disease and intellectual disability; however, considerable variable expressivity has been reported with some patients having only an alpha-thalassemia disorder and others exhibiting a more severe phenotype with additional features. Case presentation: We describe an adult male with ATR-16 syndrome (due to an unbalanced Conclusion: While cognitive decline has not been previously reported in ATR-16 syndrome, this may be another feature of the condition that is subject to variable expressivity. Taking this together with the apparent increased prevalence of dementia in other neurodevelopmental conditions, we hypothesize that individuals with ATR-16 syndrome may be predisposed to early cognitive decline.

Indexed as

ATR-16 syndromecase reportchromosome 16pcognitive declinedementia

Identifiers

PMID40458561
PMCPMC12127810

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.