(Montreal) A team of Canadian researchers, including some from the Montreal Children’s Hospital, has succeeded in identifying genes that appear to play a role in cerebral palsy, which could one day lead to the development of new therapies.
This work, which also involved researchers from the Hospital for Sick Children and the Holland Bloorview Kids Rehabilitation Hospital, both in Toronto, demonstrates that cerebral palsy can be caused by both genetic and environmental factors.
Until now, said study co-director Dr. Maryam Oskoui, who is notably head of the division of pediatric neurology at Children’s, cases of cerebral palsy were mainly attributed to incidents such as asphyxia at the birth, infection in an infant or stroke in infancy.
“On the other hand,” she added, “we have a Canadian registry for long-term cerebral palsy. It has been noted that the same risk factors give different profiles from one child to another. We also find other neurodevelopmental disorders, such as epilepsy or autism. »
The genetic data we now have, explained Dr. Oskoui, show that these neurodevelopmental disorders are linked and have genetic causes.
The work suggests the existence of numerous genetic variants contributing to cerebral palsy, which could differently define the diagnosis and future treatment of this disorder.
The study authors carried out whole genome sequencing of 327 children with cerebral palsy, in addition to their biological parents, and compared them to three independent clinical cohorts as well as two pediatric control cohorts to identify whether genetic variants are involved in the disease.
The study, which lasted seven years, found that more than one in ten children, or 11.3 percent, had a genetic variant or probable genetic variant for their cerebral palsy; Additionally, 17.7% of children had variants of uncertain significance that may be linked to the disease upon further investigation.
This therefore amounts to saying that genetics plays a probable or possible role in a third of cases of cerebral palsy.
“We know that most children who have cerebral palsy do not necessarily have a history around birth, so it is linked to brain development for several causes, including genetic malformations,” said Dr. Oskoui .
In the immediate future, she continued, it will be “very helpful” for parents to understand what is happening in order to relieve their guilt in the situation.
“We also know that there is not a single cerebral palsy,” added the researcher. It is a spectrum that includes several rare diseases. And more and more we understand that with rare diseases, with a clear diagnosis and a clear cause, this will open the way to targeted therapies with precision medicine. »
The findings of this study were published by the medical journal Nature Genetics.