Evidence map›Paper›PMID 42495733›Full record

ArticleStroke2026

Delayed Recognition and Stroke-Predominant Presentation in Down Syndrome-Associated Moyamoya Syndrome.

Jonathan D Santoro, Mackenzie Silverman, Anthony C Wang, Deepti Nagesh, Eugenia Ho, Maeve C Lucas, Samuel T Otey, Mariam M Yousuf, Sarah Lee, Elizabeth W Mayne and 3 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Stroke, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

13 authors.

Jonathan D SantoroDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).ORCID 0000-0002-8350-8234
Mackenzie SilvermanDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).
Anthony C WangDepartment of Neurosurgery, University of California at Los Angeles (A.C.W.).ORCID 0000-0002-9509-6257
Deepti NageshDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).ORCID 0000-0002-4928-0782
Eugenia HoDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).
Maeve C LucasDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).
Samuel T OteyDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).
Mariam M YousufDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA (J.D.S., M.S., D.N., E.H., M.C.L., S.T.O., M.M.Y.).
Sarah LeeDepartment of Neurology (S.L., E.W.M.), Stanford University School of Medicine, CA.ORCID 0000-0002-8821-6636
Elizabeth W MayneDepartment of Neurology (S.L., E.W.M.), Stanford University School of Medicine, CA.ORCID 0000-0002-5959-7134
Brian G SkotkoDepartment of Pediatrics, Harvard Medical School, Boston, MA (B.G.S.).ORCID 0000-0002-5232-9882
Gary K SteinbergDepartment of Neurosurgery (G.K.S.), Stanford University School of Medicine, CA.ORCID 0000-0001-6374-1058
Michael S RafiiDepartment of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles (J.D.S., D.N., E.H., M.S.R.).ORCID 0000-0003-2640-2094

Funding

Non-invasive biometric screening for cerebrovascular disorders in persons with Down syndrome.K23HL155898 · NHLBI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI SANTORO, JONATHAN DOUGLAS · 2021 to 2025
$1.3M
NHLBI NIH HHS K23 HL155898
6 · The paper itself

Abstract

backgroundChildren with Down syndrome (DS) are at high risk for moyamoya syndrome (MMS) and ischemic stroke, yet early detection strategies remain poorly defined despite the condition being surgically treatable.

methodsWe conducted a multicenter retrospective cohort study comparing children with Down syndrome-associated moyamoya syndrome (DS-MMS) and MMS without DS (MMS). The primary outcome was stroke as the primary presenting symptom. Secondary outcomes included diagnostic delays, angiographic features, prediagnostic systolic blood pressure percentiles, and 1-year neurological outcomes. Multivariable models adjusted for demographic and access-related covariates.

resultsIn total, 271 patients were identified; 198 (73.1%) met inclusion criteria and comprised the analytic cohort. Among 198 patients (77 DS-MMS; 121 MMS), DS-MMS mean age was 9.5±5.2 years (50.6% female patients), and MMS mean age was 7.4±3.0 years (54.5% female patients). Stroke at presentation was more common in DS-MMS (71.4% versus 20.7%; absolute difference, 50.8%), corresponding to an adjusted odds ratio of 14.50 ([95% CI, 6.65-31.60];

conclusionsDS-MMS represents a high-risk cerebrovascular phenotype characterized by delayed recognition and a markedly increased likelihood of stroke at presentation. Rising blood pressure percentiles preceding diagnosis may serve as an early physiological signal. These findings support targeted early detection strategies and a lower threshold for vascular imaging in symptomatic patients.

Indexed as

Delayed DiagnosisDown SyndromeMoyamoya DiseaseStrokeAdolescentChildChild, PreschoolCohort StudiesFemaleHumansMaleRetrospective StudiesTreatment Delayblood pressureDown syndromemoyamoya diseaseodds ratiostroke

Identifiers

PMID42495733
PMCPMC13439558

What OpenQuestion 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 OpenQuestion graph.