Evidence map›Paper›PMID 41202470›Full record

ArticleEBioMedicine2025

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Jesia G Berry, Ajay Taranath, Robert Goetti, Michelle A Farrar, Simona Fiori, Huy-Dat Pham, Murthy N Mittinty, Mark A Corbett, Lyle J Palmer, Dani L Fornarino and 18 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in EBioMedicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

28 authors.

Jesia G BerryRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Ajay TaranathAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Department of Medical Imaging, South Australia Medical Imaging (SAMI), Women's and Children's Hospital, Adelaide, SA, Australia.
Robert GoettiFaculty of Medicine and Health, The University of Sydney, NSW, Australia; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Michelle A FarrarSydney Children's Hospital and Discipline of Paediatrics, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales (UNSW), Sydney, NSW, Australia.
Simona FioriNeuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy; Neurofarba Department, University of Florence, Florence, Italy.
Huy-Dat PhamSchool of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Murthy N MittintySchool of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia; College of Medicine and Public Health, Flinders University, Adelaide, SA, Australia.
Mark A CorbettRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Lyle J PalmerRobinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Dani L FornarinoRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Kelly HarperRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Catherine S GibsonPaediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.
Shaneen J LeishmanQueensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.
Shona C GoldsmithCerebral Palsy Alliance Research Institute, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.
Sarah J McIntyreCerebral Palsy Alliance Research Institute, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.
Alicia MontgomerieRobinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Rhiannon M PilkingtonRobinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
John W LynchRobinson Research Institute, The University of Adelaide, SA, Australia; School of Public Health, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Remo N RussoAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Paediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.
Michael C FaheyDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Jurgen FrippThe Australian eHealth Research Centre, CSIRO, Brisbane, QLD, Australia.
Roslyn N BoydQueensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.
Margaret J WrightQueensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia.
James E RiceAdelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia; Paediatric Rehabilitation Department, Women's and Children's Hospital, Adelaide, SA, Australia.
Mary-Clare WaughSydney Children's Hospital and Discipline of Paediatrics, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales (UNSW), Sydney, NSW, Australia; Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Alastair H MacLennanRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Jozef GeczRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia.
Clare L van EykRobinson Research Institute, The University of Adelaide, SA, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, SA, Australia. Electronic address: clare.vaneyk@adelaide.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNeuroimaging abnormalities are detected in 80-86% of individuals with cerebral palsy (CP). Lesional white or grey matter injuries (WMI, GMI) are most common and typically attributed to environmental factors, while genetic causes are thought to underlie non-lesional injuries and normal brain imaging. This hypothesis has not been formally tested, and we aimed to evaluate it using the Australian CP biobank.

methodsThis population-based study included 331 children with CP (195 males, 136 females), born between 1986 and 2018. Genomic DNA extracted from blood or saliva samples underwent sequencing, variant filtering, classification using ACMG-AMP criteria, and variant curation. Probands were classified as 'resolved', 'candidate variant(s) identified', or 'no candidate variant identified'. Paediatric radiologists/neurologists coded brain MRI, CT, and ultrasound using the Magnetic Resonance Imaging Classification System (MRICS). Data analyses included descriptive statistics and multinomial logistic regression.

findingsA genetic aetiology was identified in 80 children (24%), while 165 (50%) had candidate variants and 86 (26%) had no candidate variant identified. Among children with predominant WMI or GMI (50% and 21%, respectively), 19% and 10% were genetically resolved. Children with maldevelopments, miscellaneous findings, or normal neuroimaging (10%, 10%, and 8%, respectively) were more often genetically resolved (41%, 48% and 39%) compared to those with lesional injuries (WMI or GMI), with relative risk ratios (RRR) of 3.54 (95% CI: 1.65-7.59), 4.75 (95% CI: 2.21-10.2), and 3.27 (95% CI: 1.42-7.52), respectively.

interpretationThese findings support the hypothesis that genetic aetiologies are more common in non-lesional CP. However, genetic diagnoses were observed across all MRICS categories, including 17% of lesional brain injuries. Notably, almost half of all genetically diagnosed children (39 of 80) were in the WMI and GMI groups. Therefore, we emphasise that neuroimaging should be used as a guide, not an exclusion criterion for genomic testing in CP.

fundingChannel 7 Children's Research Foundation, Cerebral Palsy Alliance Research Foundation, The Hospital Research Foundation, the NHMRC, and in-kind support from Illumina.

Indexed as

Cerebral PalsyMagnetic Resonance ImagingAdolescentChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic TestingHumansInfantMaleNeuroimagingBrain injuryCerebral palsyGenetic diagnosesGenetic testingMolecular diagnostic yieldMRINeuroimaging

Identifiers

PMID41202470
PMCPMC12790587

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.