JAMA: Exon sequencing shows that more than 30% of children with cerebral palsy are caused by disease-causing mutations

Cerebral palsy is a group of persistent central movement and posture development disorders, limited mobility syndrome, due to the development of the fetus or infant brain non-aggressive damage caused.
cause in some people with cerebral palsy is due to birth asphyxia, however, recent studies have shown that birth asphyxia causes less than 10 per cent of all cases of cerebral palsy.
recently examined the effects of pathogenic mutations on people with cerebral palsy using exon sequencing.
this study is a retrospective queue study involving people with cerebral palsy, including data on pediatric clinical laboratory referral queues accumulated between 2012 and 2018, and adult health care-based queue data accumulated between 2007 and 2017.
the participants were sequenced with copy number variation exon group, and the main endpoint of the study was the molecular diagnostic positive rate of exon group sequencing, i.e. there was a mutation that caused or might cause disease.
1,345 children were from clinical laboratory referral queues, with an average age of 8.8 years and 601 (45 per cent) girls.
181 patients were from the health care queue, with an average age of 41.9 years and 96 (53 per cent) female.
In the clinical laboratory referral queue, the molecular diagnostic positive rate of exon group sequencing was 32.7%, and in the medical care-based queue, the molecular diagnostic rate of exon group sequencing was 10.5%. the positive rate of
molecular diagnosis was influenced by the patient's underlying neuropsychiast disease, of which the positive diagnosis rate was 11.2% for patients without intellectual disability, epilepsy or autism spectrum disorder, and 32.9% for patients with three co-diseases at the same time.
tests found 229 genes (29.5 per cent of 1,526 patients) to be pathogenic and potentially pathogenic, of which 86 gene mutations were found in two or more patients (20.1 per cent of 1,526 patients) and 10 mutant genes were found in both groups (2.9 per cent of 1,526 patients).
study found that the proportion of adult cerebral palsy patients with pathogenic mutations leading to cerebral palsy was 10.5 percent, compared with 32.7 percent of children with cerebral palsy.