Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis
-
By
-
Paloma Arana-Rivera
-
Myriam Martín-Bermejo
-
Diana Marcela Nova-Díaz
-
Raquel Bernadó-Fonz
-
Nerea Gorría-Redondo
-
Diego Rivera
-
Laiene Olabarrieta-Landa
-
Sergio Aguilera-Albesa
-
July 16, 2026
Clinical Scorecard: Genomic Insights into Non-Cryptogenic Cerebral Palsy: A Systematic Review and Meta-Analysis
At a Glance
| Category | Detail |
|---|
| Condition | Non-Cryptogenic Cerebral Palsy |
| Key Mechanisms | Genomic variants contributing to CP with identifiable perinatal or acquired risk factors. |
| Target Population | Individuals with non-cryptogenic cerebral palsy. |
| Care Setting | Clinical genetic testing and assessment. |
Key Highlights
- Pooled frequency of P/LP genomic findings in non-cryptogenic CP is 12.6%.
- Cryptogenic CP shows a higher frequency of P/LP findings at 32.3%.
- Prematurity is associated with lower frequencies of genomic findings.
- COL4A1/COL4A2-related findings are enriched in specific cerebrovascular phenotypes.
Guideline-Based Recommendations
Diagnosis
- Careful assessment of perinatal risk factors is recommended.
Management
- Genomic testing should be considered for individuals with non-cryptogenic CP.
Monitoring & Follow-up
- Monitor genotype–phenotype concordance in genomic results.
Risks
- Incomplete genotype–phenotype adjudication may limit interpretation of findings.
Patient & Prescribing Data
Individuals diagnosed with non-cryptogenic cerebral palsy.
Genomic findings can inform clinical management and understanding of CP.
Clinical Best Practices
- Utilize whole-exome and whole-genome sequencing for accurate genomic assessment.
- Incorporate neuroimaging patterns in the evaluation of CP.
Related Resources & Content
