Faulty genes may lead to cerebral palsy

Toronto: Generally known to be caused by factors such as birth asphyxia, stroke and infections in the developing brain of babies, cerebral palsy (CP), the most common cause of physical disability in children, may also have genetic roots, says a new study.

There are many different genes involved in cerebral palsy, the findings showed.

"Our research suggests that there is a much stronger genetic component to cerebral palsy than previously suspected," said lead study author Maryam Oskoui, paediatric neurologist at The Montreal Children's Hospital in Canada.

"This study will provide the impetus to make genetic testing a standard part of the comprehensive assessment of the child with cerebral palsy," Michael Shevell from McGill University Health Centre, noted.

Children with cerebral palsy have difficulties in their motor development early on, and often have epilepsy and learning, speech, hearing and visual impairments. 

The research team performed genetic testing on 115 children with cerebral palsy and their parents from the Canadian Cerebral Palsy Registry, many of which had other identified risk factors. 

They found that 10 percent of these children have copy number variations (CNVs) affecting genes deemed clinically relevant. 

In the general population such CNVs are found in less than one per cent of people. 

CNVs are structural alterations to the DNA of a genome that can be present as deletions, additions, or as reorganised parts of the gene that can result in disease.

The study was published in the journal Nature Communications.