Researchers argue genetic testing should be a standard part of diagnosing cerebral palsy, the Toronto Star reports.
The Hospital for Sick Children's Stephen Scherer and his colleagues genotyped 97 patients with hemiplegic cerebral palsy — cerebral palsy that affects one side of the body — and their parents. They then compared copy number variations in their cohort to those in a population-based sample. As they reported in Genetics in Medicine last week, the researchers found an increase in de novo CNVs among hemiplegic cerebral palsy patients. Overall, they estimated that they were a factor in slightly more than 20 percent of hemiplegic cerebral palsy patients.
Scherer tells the Toronto Star that diagnosing children with cerebral palsy can be tricky — about 10 percent of those diagnosed with cerebral palsy might have a different condition — and genetic testing may be helpful to confirm a diagnosis. It could also, the Star adds, give families an explanation.
"There should be genetic testing that happens as soon as possible; that's the take-home message in this study," Scherer adds.