Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

AI / informaticsThe Lancet regional health. Europe· Sep 2026

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Thiloka E Ratnaike, Heather H Pierce, Alison J Coffey … David H Rowitch

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Laboratory Genetics & GenomicsAI / informaticsDiagnosisQ1IF 9.3

Whole genome sequencing found pathogenic variants in 12.8% of children with cerebral palsy.

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Thiloka E Ratnaike … David H Rowitch

The Lancet regional health · Sep 2026 · Q1 in General Medicine

Background

Prior international studies indicate that 9-36% of people with cerebral palsy (cerebral palsy) have a monogenic condition.

Methods

This prospective pilot study recruited 86 individuals with cerebral palsy from specialist clinics in Bedford, Cambridge, Colchester, Newcastle, and Luton National Health Service Foundation Trusts.

n = 86 individuals

12.8%

Results

12.8%

1 in 8 children with cerebral palsy had a genetic cause identified

n = 86 individuals

More results

86/157 (54.7%) individuals approached consented to the study.

8/86 participants (9.3%) carried variants strongly suggestive of disease causation.

Variants of uncertain significance were identified in 27/86 cases (31.4%).

More results

In all cases with P/likely pathogenic variants, findings informed patient prognosis, specialist care, clinical management, and familial recurrence risk.

“

Conclusion

Whole genome sequencing is clinically useful for diagnosis and management of genetic conditions associated with cerebral palsy in the United Kingdom. Validation of these findings in a larger cohort is warranted.

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

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