CANBERRA, May 4 (Xinhua) — Genetic defects are most likely responsible for 24.5 percent of the cerebral palsy (CP) cases involved in a new study, Chinese and Australian researchers have found.
In the study researchers from China’s Fudan University and Zhengzhou University and from Australia’s University of Adelaide conducted the world’s largest study of CP genetics, involving more than 1,500 Chinese children with CP.
The study with Chinese researchers as first authors was published in the prestigious scientific journal, Nature Medicine, on May 1. It used modern genomic sequencing and found mutations were significantly higher in CP cases with birth asphyxia, indicating a lack of oxygen could be secondary to the underlying genetic defect, said a media release by the University of Adelaide on Friday, adding the results are consistent with smaller studies globally.
Chinese and Australian researchers in the study found that 24.5 percent of the children in the study had rare genetic variations linked to CP.
The researchers identified 81 genes with causation mutations in the children with CP.
This revelation mirrors our earlier findings in our Australian cerebral palsy cohort, where up to one third of cases have genetic causes, Jozef Gecz, a human geneticist who co-led the Australian research team, said in the media release.
CP refers to a group of conditions affecting movement and posture that are caused by abnormal development of the brain.
It is the most common motor disability in children, affecting up to two out of every 1,000 children globally.
It was previously thought that a lack of oxygen at birth was the biggest risk factor leading to the development of CP.
A lack of oxygen at birth is often claimed to be the cause of CP in medical litigation following a diagnosis and this has led to the presumption that the condition is preventable with better obstetrics or midwifery, said Alastair MacLennan, co-leader of the Australian research group, who is head of the Australian Collaborative Cerebral Palsy Research Group at the University of Adelaide.
MacLennan said all children with CP should undergo modern genetic screening to identify possible clinical treatments that could improve their long-term outcomes. ■
