脑瘫 z-bo 2020-09-19 387

　　Cerebral palsy is the most common cause of disability in children. Historically, it was thought to be caused by birth asphyxia, stroke, infection of infant brain development and other factors. Children with cerebral palsy encounter obstacles in early motor development, with symptoms such as epilepsy, learning, speech, hearing and visual impairment. On average, 2 out of every 1,000 newborns are affected by cerebral palsy. Some of them are slightly affected, while others cannot walk or communicate independently. Generally, for finding the root cause of disability, genetic testing will be conducted to look for the influence of genetic factors only when other factors cannot be determined.

　　Canadian study reveals genetic factors of cerebral palsy

　　Recently, researchers at the Canadian Hospital for Sick Children and McGill University Medical Research Center revealed the genetic factors of cerebral palsy, which changed the experts’ understanding of the causes of cerebral palsy. The results of the study were published online on August 3 in the journal Nature Communications. The results of this study may have a significant impact on the prevention and treatment of cerebral palsy in the future.

　　Researchers conducted genetic testing on 115 Canadian children with cerebral palsy and their parents (the cause of these children with cerebral palsy has been determined before). It was found that 10% of patients had mutations in genes related to cerebral palsy. In the general population, the mutation rate of these genes is less than 1%. Mutations in DNA related to cerebral palsy, including base addition, deletion or recombination, can cause this disease.

　　The study also revealed that many different genes are related to cerebral palsy. Scherer, director of the McLaughlin Center at the University of Toronto, said that this is very similar to autism. Many different gene mutations can cause the disease, which explains why the clinical manifestations of the two diseases are diverse. The study opened the door to new research on cerebral palsy.

　　Professor Maryam Oskoui, an expert in neurology and neurosurgery at McGill University, said that the results of the study revealed a more powerful genetic factor for cerebral palsy than previously known. How these genetic factors interact with other known risk factors remains to be further studied.

　　Experts call for the integration of genetic testing into the diagnosis and evaluation of cerebral palsy

　　Dr. Michael Shevell, director of the Canadian Paralysis Registration Center, said that finding the cause of a disabled child is very important to managing the child. Finding a precise cause is the key to opening the door to specific treatment, prevention and rehabilitation. This research promotes the application of genetic testing in the diagnosis and evaluation of cerebral palsy.

　　Dr. Stephen Scherer, the lead researcher and director of the Genomics Application Center of this study, said, "When I revealed the results of the study to geneticists, they were shocked. Based on the results of the study, we recommend integrating genome analysis into the diagnosis and evaluation of cerebral palsy. Standard practice."