Genetics, not lack of oxygen, causes cerebral palsy in quarter of cases

Professor Alastair MacLennan and Mathew Reinerstein who has cerebral palsy and is an ambassador for the Australian Cerebral Palsy Research Group in 2012.
The world鈥檚 largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen at birth as previously thought.
The study, published in the prestigious scientific journal,聽聽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. The results are consistent with smaller studies globally.
More than 1,500 Chinese children with CP were involved in this research project, which was a collaborative effort between the University of 新浪彩票 and Fudan University Shanghai, Zhengzhou University, Zhengzhou and associates.
The Australian team was led by obstetrician and University of 新浪彩票鈥檚 Emeritus Professor Alastair MacLennan AO and human geneticist, Professor Jozef Gecz.
鈥24.5 per cent of Chinese children in the study had rare genetic variations linked to cerebral palsy. This revelation mirrors our earlier findings in our Australian cerebral palsy cohort, where up to one third of cases have genetic causes,鈥 said Professor Gecz, who is the University of 新浪彩票鈥檚 Head of Neurogenetics at the 新浪彩票 Medical School and the Robinson Research Institute.
鈥淥ur research shows at least some babies who experience birth asphyxia and are diagnosed with CP may have improper brain development as a result of the underlying genetic variants rather than a lack of oxygen.
鈥淐rucially, clinically actionable treatments were found in 8.5 per cent of cases with a genetic cause. It is exciting to see how genetic pathways to cerebral palsy inform tailored treatments for these individuals.鈥
鈥淭hese results highlight the need for early genetic testing in children with cerebral palsy, especially those with risk factors like birth asp