ArticleDevelopmental medicine and child neurology2025
Genetic testing in cerebral palsy with clinical and neuroimaging variables.
Article in Developmental medicine and child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026Article
- Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.EBioMedicine · 2025Article
- Genetic testing in the diagnosis of cerebral palsy: First-tier for all versus a 'choosing wisely' approach.Developmental medicine and child neurology · 2025Article
- Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025Article
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Authors and funding
11 authors.
Funding
Abstract
aimTo optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables.
methodIn this mixed methods study, we surveyed current approaches to genetic testing by Australian clinicians involved in the diagnosis of CP. Using an international expert panel we explored 78 variables, to determine which variables were thought to be supportive of monogenic CP. We tested the 78 variables in a retrospective cohort of 100 children with CP, of whom 21 had a genetic cause of CP.
resultsForty-five clinicians replied to the survey of current practice, 91% agreed that genetic testing has a role in CP, although 47% thought that there was inadequate guidance on which patients to test. The expert panel reached 75% agreement for 30 out of 78 variables for genetic CP, and 14 out of 78 variables against a genetic cause of CP. Retrospective testing in 100 children with CP revealed dysmorphic features (odds ratio [OR] = 7.50; 95% confidence interval [CI] 1.88-29.85) and intellectual disability (OR = 4.86; 95% CI 1.29-18.30) were more common in those with genetic CP, and MRI being compatible with the clinical picture was the feature least common in genetic CP (OR = 0.14; 95% CI 0.05-0.41).
interpretationGenetic testing has a role in determining CP aetiology; however, there is no consensus on who should be tested. We used mixed methodology and found that dysmorphic features, intellectual disability, and 'MRI not compatible with the clinical picture' are most supportive of a genetic cause of CP.
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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.