Exome-sequencing analysis in a Chinese cohort of 1,578 children with cerebral palsy established a genetic etiology in 387 of the patients (24.5%). Children with cerebral palsy for whom perinatal asphyxia had been recorded at birth were found to be more likely to carry pathogenic or potentially pathogenic variants.
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References
Yeargin-Allsopp, M. et al. Prevalence of cerebral palsy in 8-year-old children in three areas of the United States in 2002: a multisite collaboration. Pediatrics 121, 547–554 (2008). This paper is based on a population-based surveillance system to estimate the prevalence of CP subtypes in children in three regions of the United States.
O’Brien, J. R., Usher, R. H. & Maughan, G. B. Causes of birth asphyxia and trauma. Can. Med. Assoc. J. 94, 1077–1085 (1966). This paper suggested that CP is associated with birth asphyxia.
Moreno-De-Luca, A., Ledbetter, D. H. & Martin, C. L. Genetic insights into the causes and classification of cerebral palsies. Lancet Neurol 11, 283–292 (2012). This review presents multiple genetic factors that might cause CP, similar to other neurodevelopmental disorders such as autism and intellectual disability.
Gonzalez-Mantilla, P. J. et al. Diagnostic yield of exome sequencing in cerebral palsy and implications for genetic testing guidelines: a systematic review and meta-analysis. JAMA Pediatr 177, 472–478 (2023). This systematic review and meta-analysis indicates that CP shares a genetic diagnosis similar to that of other neurodevelopmental disorders, and recommends exome sequencing as a standard diagnostic tool for CP.
van Eyk, C., MacLennan, S. C. & MacLennan, A. H. All patients with a cerebral palsy diagnosis merit genomic sequencing. JAMA Pediatr 177, 455–456 (2023). This article illustrates how early clinical diagnosis of CP provides an opportunity for early interventions to optimize neuroplasticity and alleviate the disease.
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This is a summary of: Wang, Y. et al. Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Nat. Med. https://doi.org/10.1038/s41591-024-02912-z (2024).
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Exome sequencing in a Chinese cohort of children with cerebral palsy identifies likely pathogenic variants. Nat Med (2024). https://doi.org/10.1038/s41591-024-02967-y
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DOI: https://doi.org/10.1038/s41591-024-02967-y
