The most extensive research on cerebral palsy (CP) genetics found that genetic defects are probably the cause of more than 25% of cases in Chinese children. This challenges the previous belief that CP was caused by oxygen deprivation at birth. The study, published in Nature Medicine, used advanced genomic sequencing to identify mutations.The study found that levels of birth asphyxia were significantly higher in cases of cerebral palsy, suggesting that a lack of oxygen could be linked to an underlying genetic defect. These results are consistent with smaller studies conducted worldwide.
This research project included over 1,500 Chinese children with cerebral palsy and was a collaborative effort between the University of Adelaide, Fudan University Shanghai, Zhengzhou University, Zhengzhou, and other partners.
The Australian team, led by obstetrician Professor Alastair MacLennan AO and human geneticist Professor Jozef Gecz from the University of Adelaide, conducted the study. “Twenty-four point five percent of Chinese children in The study discovered rare genetic variations that are connected to cerebral palsy. This discovery confirms our previous findings in our Australian cerebral palsy group, in which as many as 33% of cases have genetic origins,” stated Professor Gecz, who serves as the Head of Neurogenetics at the Adelaide Medical School and the Robinson Research Institute at the University of Adelaide.
“Our research indicates that some babies who suffer from birth asphyxia and are diagnosed with CP may have abnormal brain development due to the underlying genetic variations rather than a lack of oxygen.
“Significantly, actionable treatments were identified in 8.5% of cases.Cerebral palsy, a condition that affects movement and posture, is the most common motor disability in children. It is diagnosed in up to 2 per 1000 children globally and is often associated with other conditions such as epilepsy, autism, and intellectual difficulties. Symptoms can appear in infancy or early childhood and vary in severity. The research team discovered 81 genes with mutations that are causally linked to cerebral palsy, and these genes are known to have important roles in the development and function of the nervous system. This discovery has the potential to lead to personalized treatments for individuals with cerebral palsy.Roles in neural and embryonic development and may impact the molecular pathways responsible for respiration.
“A lack of oxygen at birth is often cited as the reason for CP in medical lawsuits after a diagnosis, leading to the assumption that the condition could be prevented with better obstetrics or midwifery. However, Professor MacLennan, who has spent the past 30 years advocating for little scientific evidence to support the idea that cerebral palsy is caused by trauma or lack of oxygen at birth, stated that this is not the case.”
Professor MacLennan also stated that frequent litigation has been linked to a significant increaseIn “defensive” caesarean delivery and high insurance premiums for obstetricians. “These findings underscore the importance of early genetic testing in children with cerebral palsy, especially those with risk factors such as birth asphyxia, to ensure they receive appropriate medical care and treatment. “All children with cerebral palsy should receive modern genetic screening early on, as personalized interventions can truly make a difference and improve their long-term outcomes,” he explained. Ongoing genetic research is also exploring other types of genetic variations that contribute to the development of CP, and as a result, the researchers anticipate that The overall genetic diagnosis rate is likely to increase.
