NeuroDevNet study documents strong role of genetics in cerebral palsy
New evidence arising from collaboration between NeuroDevNet’s cerebral palsy and autism researchers has uncovered surprisingly strong evidence for genetic causes for CP.
Stroke, oxygen deprivation and infections in newborns have long been considered causes of cerebral palsy, the most common cause of physical disability in children. CP is occurs in two out of every thousand births in Canada. “Clinically Relevant Copy Number Variants Detected in Cerebral Palsy,” published online today in Nature Communications has the potential to reboot understanding of the condition, as well as approaches to counseling, prevention and treatment of children with cerebral palsy.
Clinical geneticists floored by findings
The Tip of the Iceberg
“These findings embody what NeuroDevNet is all about,” added Goldowitz. “As we gather more data in the registry, and align the cases of CP with genomic, and soon, epigenomic findings – modifications to DNA that do not change the DNA sequence but can affect a gene’s activity – there will be knowledge obtained that will make the current report seem as the tip of the iceberg.”
Implications for Families - and for Clinical Practice
"Parents want to know why their child has particular challenges," said Dr. Michael Shevell, co-director of the Canadian CP Registry and Chair of the Department of Pediatrics at the MCH-MUHC. "Finding a particular reason opens up multiple vistas related to understanding, specific treatment, prevention and rehabilitation. This study will provide the impetus to make genetic testing a standard part of the comprehensive assessment of the child with cerebral palsy."
Having accompanied a number of families through the process of diagnosis, Dr. Oskoui believes the findings will help resolve some - but not all - of the inevitable questions that arise about pregnancy and delivery when a child is born with CP. "Families want to know why," she said, "but sometimes, we will never know that answer."
Clinically Relevant Copy Number Variations Detected in Cerebral Palsy was supported by NeuroDevNet, the Canadian Institutes of Health (CIHR), Genome Canada, The University of Toronto McLaughlin Centre, and SickKids Foundation. Currently supported by NeuroDevNet, the Canadian Cerebral Palsy Registry was initially funded by the Réseau de recherche sur le développement, la santé et le bien-être de l'enfant (RSDE) des Fonds de Recherche en Santé du Québec (FRSQ). Dr. Maryam Oskoui is a FRSQ Chercheur-Boursier Clinicien Junior 1.