Evidence map›Paper›PMID 41833578›Full record

ArticleEBioMedicine2026

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

Jodi T Thomas, Alexander S F Berry, Matthew T Oetjens, Jesia G Berry, Alastair H MacLennan, Scott D Gordon, Andrew T Hale, Catherine M Olsen, David C Whiteman, Rebecca I Torene and 7 more

Abstract read
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In one paragraph

Article in EBioMedicine, 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
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0citing papers 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

17 authors.

Jodi T ThomasBrain and Mental Health Program, QIMR Berghofer, Brisbane, QLD, Australia; School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, Australia.
Alexander S F BerryDepartment of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PA, USA.
Matthew T OetjensDepartment of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PA, USA.
Jesia G BerrySchool of Medicine and Robinson Research Institute, College of Health, Adelaide University, Adelaide, SA, Australia.
Alastair H MacLennanSchool of Medicine and Robinson Research Institute, College of Health, Adelaide University, Adelaide, SA, Australia.
Scott D GordonBrain and Mental Health Program, QIMR Berghofer, Brisbane, QLD, Australia.
Andrew T HaleDepartment of Neurosurgery, The University of Alabama at Birmingham, Birmingham, AL, USA; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
Catherine M OlsenPopulation Health Program, QIMR Berghofer, Brisbane, QLD, Australia.
David C WhitemanPopulation Health Program, QIMR Berghofer, Brisbane, QLD, Australia.
Rebecca I ToreneDepartment of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PA, USA.
David H LedbetterInstitute for Pediatric Rare Diseases, College of Medicine, Florida State University, Tallahassee, FL, USA.
Nicholas G MartinBrain and Mental Health Program, QIMR Berghofer, Brisbane, QLD, Australia.
Clare L van EykSchool of Medicine and Robinson Research Institute, College of Health, Adelaide University, Adelaide, SA, Australia.
Jozef GeczSchool of Medicine and Robinson Research Institute, College of Health, Adelaide University, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Scott M MyersDepartment of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PA, USA.
Brittany L MitchellBrain and Mental Health Program, QIMR Berghofer, Brisbane, QLD, Australia; School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, Australia; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
Mark A CorbettSchool of Medicine and Robinson Research Institute, College of Health, Adelaide University, Adelaide, SA, Australia. Electronic address: mark.corbett@adelaide.edu.au.

Funding

Characterizing the spectrum of genomic and phenotypic variation in cerebral palsyR01HD104938 · NICHD · GEISINGER CLINIC · PI Scott Myers · 2022 to 2026
$3.4M
NICHD NIH HHS R01 HD104938
6 · The paper itself

Abstract

backgroundCerebral palsy (CP) is a complex neurodevelopmental disorder with both environmental and genetic contributors. Rare genetic variants explain a substantial proportion of CP, but the contribution of common variants remains unclear. We evaluated whether polygenic scores for CP and related traits explain the aetiology of CP.

methodsWe analysed two independent target cohorts: a case-control cohort including people with a confirmed clinical diagnosis of CP from the Australian CP Biobank and population-based controls; and MyCode, a United States healthcare cohort with CP status identified by electronic health records. Only participants of European genetic ancestry were included. CP polygenic scores were constructed using a publicly available discovery genome-wide association meta-analysis of Finnish and UK cohorts (n

findingsThe Australian cohort included 525 cases and 20,410 controls, and MyCode 322 cases and 1610 age-matched controls. The combined model of all eight polygenic scores significantly discriminated CP status, explaining 1·3% of CP liability in the Australian cohort (90% CI lower bound 0·82%, padj<0·0001), and 0·78% in MyCode (90% CI lower bound 0·35%, padj<0·0001). CP-specific polygenic scores demonstrated minimal predictive signal, likely reflecting limited GWAS power. Polygenic scores for known CP predisposing factors (birth weight, gestational duration, stroke) showed modest predictive performance, with some cohort differences. Results were similar when the Australian cohort was stratified by monogenic CP diagnosis.

interpretationOur findings demonstrate a measurable polygenic contribution to CP and shared genetic influences with predisposing factors, including those traditionally considered environmental, and comorbidities. Common variants appear to contribute broadly to CP susceptibility, highlighting a multifactorial landscape relevant for earlier diagnosis and intervention.

fundingCerebral Palsy Alliance Research Foundation, NICHD, NHMRC, MRFF, QIMR Berghofer.

Indexed as

Cerebral PalsyGenetic Predisposition to DiseaseMultifactorial InheritanceAdultAustraliaCase-Control StudiesCohort StudiesFemaleGenetic Risk ScoreGenome-Wide Association StudyHumansMalePhenotypePolymorphism, Single NucleotideROC CurveCerebral palsyGenome wide association studyHypoxic ischaemic encephalopathyIntellectual disabilityNon-progressive movement disorderPolygenicStroke

Identifiers

PMID41833578
PMCPMC13000708

What Socratic holds

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LicenceCC BY
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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.