Cerebral palsy (CP) is the most common cause of physical disability in children. Three in 1,000 children are diagnosed with the debilitating neurological disorder which impacts body movement and muscle coordination.
Canadian researchers have recently uncovered how CP develops in utero. The study has the potential to provide families with information on why their child developed CP, as well as, help scientist in developing ways to prevent, treat and manage symptoms of the disorder.
The research led by scientists at Holland Bloorview Kids Rehabilitation Hospital and The Hospital for Sick Children (SickKids), and funded by CP-NET (Childhood Cerebral Palsy Integrated Neuroscience Discovery Network) Integrated Discovery Program of the Ontario Brain Institute (OBI).
Holland Bloorview is Canada’s largest children’s rehabilitation hospital for children with disabilities and medical complexity and provides rehabilitation after illness or trauma. Sick Kids is recognized as one of the world’s foremost pediatric health-care institutions. The OBI is a provincially-funded, not-for-profit research centre seeking to maximize the impact of neuroscience.
The team found groundbreaking evidence which suggests a far stronger underlying genetic link in children with hemiplegic CP than was previously thought.
The team performed DNA analysis on nearly 100 children with hemiplegic CP (the most common type of CP in which only one side of the body is affected) and their parents. The aim was to identify rare copy-number variations (CNVs) are considered to be a major factor which causes CP) and compare those of over 10,000 population controls.
The findings of the research supported the results of a 2015 study which points to a stronger association between CNVs, CP, and related medical complications.
The researchers found that rare CNVs which impacted genes critical to brain development were present in more than 20 per cent of the children with hemiplegic CP. They also found that in five per cent of these children, CNVs were a likely major cause of CP.
“This study reflects our previous findings that CNVs are involved in a significant proportion of individuals with the hemiplegic form of cerebral palsy,” a report from the Sick Kids Web site quoted Dr. Stephen Scherer as saying.
Scherer is director of TCAG and senior scientist at SickKids, director of the McLaughlin Centre and professor in the Department of Molecular Genetics at the University of Toronto.
“In 2015, we found that CNVs were a significant contributor in unselected cerebral palsy; mimicking the results of this study and showing an even greater connection,” he said. “We anticipate finding an even greater role for genetics in CP when we use newer technologies like whole genome sequencing.”
Microarray analysis, which is used for testing people with birth defects and developmental disabilities, was used to analyze genes in this study. Results of the study now opens the discussion on whether such genomic testing be used in the clinical assessment of children with CP.
“The discovery of a genetic link to CP not only demonstrates progress in understanding the condition better but also highlights the benefit and need for increased research collaboration,” said Tom Mikkelsen, president and scientific director at the OBI. “To find definite answers and effective treatments, we need to come together as a neuroscience community in order to maximize impact and improve the lives of people living with brain disorders.”