To estimate the frequency of reported pathogenic or likely pathogenic (P/LP) genomic findings in non-cryptogenic cerebral palsy (CP) and compare it with cryptogenic cohorts.
Approach:
Data Sources: PubMed and Scopus, searched until May 30, 2026, for sequencing-based CP studies with extractable non-cryptogenic data.
Key Findings:
The primary non-cryptogenic analysis included 1,885 individuals, of whom 325 had reported P/LP genomic findings.
In seven studies with cryptogenic subgroup data, the pooled frequency was 32.3% (95% CI 21.0–46.1; I2 = 69.9%).
Across all analyzed cohorts, the overall pooled frequency was 19% (95% CI 12–28).
Interpretation:
P/LP genomic findings occur in a clinically meaningful subset of individuals with non-cryptogenic CP, though less frequently than in cryptogenic CP. Limitations include heterogeneous definitions of non-cryptogenic CP and incomplete genotype–phenotype adjudication across studies.
Limitations:
Heterogeneous definitions of non-cryptogenic CP.
Incomplete genotype–phenotype adjudication across studies.
Conclusion:
The study highlights the need for careful assessment of perinatal risk factors, neuroimaging patterns, and genotype–phenotype concordance when interpreting genomic results.
