Acta paediatrica (Oslo, Norway : 1992) · 2025
Systematic Review on Genetic Variants in Children With Cerebral Palsy.
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Pedersen Signe V, Sørensen Jesper K, Fabricius Rebecca, Dunø Morten, Larsen Mads L, Høi-Hansen Christina E, Østergaard Elsebet
Аннотация
AIM: To give a comprehensive overview of genetic findings in children with cerebral palsy, including a description of subtype, comorbidities and neuroimaging, providing insight into the clinical utility of genetics.
METHOD: A systematic review of previous literature using Embase and Medline as databases. All studies were published between 2000 and 2022, each including at least 10 individuals with cerebral palsy.
RESULTS: A total of 19 studies were included, comprising a total of 3707 individuals with cerebral palsy. The overall diagnostic yield was 22.2%, with the highest yield (up to 55%) in cryptogenic cerebral palsy. Variants in a total of 377 unique genes were identified, most frequently CTNNB1, SPAST and ATL1. In addition, 59 different CNVs were identified, of which 32 were in known (micro)duplication/-deletion syndromes such as 22q11.2 microdeletion/-duplication and 14q12 microdeletion. Spastic and dyskinetic cerebral palsy were the most common phenotypes among genetically diagnosed cases. Findings also included variants in genes linked to epilepsy, specific neuroimaging patterns and potentially treatable conditions.
CONCLUSION: These results highlight the importance of genetic evaluation for diagnostic clarification, targeted treatment, monitoring of comorbidities and genetic counseling. We recommend offering genetic testing to individuals with cryptogenic cerebral palsy to optimize management and prevention.
METHOD: A systematic review of previous literature using Embase and Medline as databases. All studies were published between 2000 and 2022, each including at least 10 individuals with cerebral palsy.
RESULTS: A total of 19 studies were included, comprising a total of 3707 individuals with cerebral palsy. The overall diagnostic yield was 22.2%, with the highest yield (up to 55%) in cryptogenic cerebral palsy. Variants in a total of 377 unique genes were identified, most frequently CTNNB1, SPAST and ATL1. In addition, 59 different CNVs were identified, of which 32 were in known (micro)duplication/-deletion syndromes such as 22q11.2 microdeletion/-duplication and 14q12 microdeletion. Spastic and dyskinetic cerebral palsy were the most common phenotypes among genetically diagnosed cases. Findings also included variants in genes linked to epilepsy, specific neuroimaging patterns and potentially treatable conditions.
CONCLUSION: These results highlight the importance of genetic evaluation for diagnostic clarification, targeted treatment, monitoring of comorbidities and genetic counseling. We recommend offering genetic testing to individuals with cryptogenic cerebral palsy to optimize management and prevention.