Could genetics lead to progress in the early detection of cerebral palsy?



Nearly 30% of those affected by the disorder have disruptions in their genetic codes. 

Every year in Québec, 140 babies are diagnosed with cerebral palsy. Children with obvious motor deficits such as muscle stiffness and developmental delays are generally diagnosed soon after birth. But for those who have no known risk factors (premature birth, birth asphyxia, stroke, congenital infection, etc.), the diagnosis often comes later. The interval unfortunately means that the young patients' rehabilitation to optimize their development begins later. 

To determine other causes and risk factors, Dr. Maryam Oskoui, pediatric neurologist at the Montréal Children's Hospital and clinical researcher at the Research Institute of the McGill University Health Centre, and her team at the Canadian Cerebral Palsy Registry (which she also codirects) worked to assess the impact of genetics in a cohort of patients. Contrary to their expectations, the experts found a number of anomalies—variations in the number of copies of certain genes—in the genetic codes of 10% of children diagnosed with cerebral palsy. The researchers then launched a study to sequence the genomes of the children and their parents. The preliminary findings suggest that nearly 30% of those affected by the disorder have disruptions in their genetic codes. According to Dr. Oskoui, some children may be more resilient to risk factors, while others could be predisposed to developing motor impairments due to a number of factors, including their genetics. This new knowledge could eventually lead to targeted personalized treatments for patients with cerebral palsy.