Using whole-genome sequencing, Canadian researchers found a high prevalence of genetic abnormalities in children with cerebral palsy.
The investigators performed whole-genome sequencing in 327 children with cerebral palsy and their biological parents, as well as two pediatric control cohorts. They found that 11.3% of the children with cerebral palsy had a genomic variation that likely contributed to their risk for developing the condition. Another 17.7% had variants of uncertain significance.
To further improve their analysis, the investigators analyzed samples from the biological parents of the children with cerebral palsy. The"trio data," which included samples from the child and both biological parents, allowed researchers to determine whether the genetic variation was inherited or a newly developed de novo change. The findings showed a high prevalence of de novo variations, which are more likely to cause complications.
Genetic testing may be able to provide a more specific diagnosis for some children. For example, one child in the study was misdiagnosed and found to have dopa-responsiveUnderstanding whether variants are inherited can also improve family counseling."Many parents want to understand why their child has developed cerebral palsy," said Fehlings. Getting information on the genetic contribution can help demystify the condition.
Genomic Medicine Children Child Childhood Pediatrics Kids Cerebral Palsy Genetics Toxicology Toxicity Poisoning Toxins Genetic Testing Brain DNA Sequencing DNA Sequence DNA Sequences Sequencing DNA Next-Generation Sequencing NGS Sequencing By Synthesis SBS Whole Genome Sequencing Chromatin Immunoprecipitation Assays And Sequenci Chip Sequencing Chip-Seq
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