The largest study of cerebral palsy genetics has found that genetic defects are responsible for over 25% of cases in Chinese children, rather than a lack of oxygen at birth as previously believed. The research, published in Nature Medicine, involved over 1,500 Chinese children with CP and was a collaboration between the University of Adelaide and several Chinese institutions. The study, led by Professor Alastair MacLennan and Professor Jozef Gecz, found that mutations were more common in cases with birth asphyxia, suggesting that genetic defects may be the primary cause of CP, with lack of oxygen being a secondary factor. The findings align with smaller studies conducted globally.
The study identified 81 genes with causation mutations in children with CP, indicating the importance of neural and embryonic development in the disorder. These genes are believed to affect molecular pathways responsible for respiration, shedding light on the relationship between genetics and CP. Professor MacLennan emphasized that there is limited scientific evidence supporting the idea that CP is caused by birth trauma or lack of oxygen, challenging the notion that the condition is preventable through better obstetric practices. He highlighted the need for early genetic testing in children with CP, particularly those with risk factors like birth asphyxia, to ensure they receive appropriate medical care and interventions.
Professor Gecz noted that up to one third of CP cases in Australian cohorts have genetic causes, emphasizing the importance of genetic pathways in informing tailored treatments for affected individuals. The study found clinically actionable treatments in 8.5% of cases with a genetic cause, suggesting that personalized interventions based on genetic testing could improve long-term outcomes for children with CP. Ongoing research is exploring other types of genetic variations contributing to CP, with researchers expecting the overall genetic diagnosis rate to increase as a result.
Cerebral palsy is a common motor disability in children, affecting movement and posture and sometimes occurring alongside epilepsy, autism, and intellectual difficulties. Symptoms typically manifest in infancy or early childhood and can range from mild to severe. The study’s findings challenge the prevailing belief that lack of oxygen at birth is the primary cause of CP, pointing to genetic defects as a significant contributing factor. The results underscore the need for early genetic testing in children with CP to facilitate personalized treatment plans and improve outcomes.
Professor MacLennan highlighted the impact of frequent litigation on obstetric practices, noting a rise in defensive caesarean deliveries and high insurance premiums for obstetricians. He emphasized the importance of dispelling the myth surrounding the cause of CP and ensuring that children with CP receive appropriate genetic screening and interventions. The researchers’ findings have important implications for the diagnosis and treatment of CP, suggesting that a significant proportion of cases may have underlying genetic causes that can be targeted with tailored therapies. By uncovering the genetic basis of CP, the study opens up new possibilities for improving the lives of affected individuals and advancing our understanding of this complex disorder.
