Genetic testing in paediatric neurological disorders

Finding the cause of a child's neurological condition can be a long and challenging journey for families. Genetic testing is increasingly used to help identify the underlying cause of conditions such as neurological disorders, but it is not always clear which testing approach is most effective. This study examined genetic testing practices in children with neurological disorders at a large tertiary hospital. We compared exome sequencing, which analyses a large portion of a person's genes, with other gene panel tests. Exome sequencing was more successful at identifying disease-causing genetic changes and produced fewer uncertain results, making findings easier for clinicians and families to interpret. Children who received exome sequencing and had more severe developmental difficulties or low muscle tone were more likely to receive a genetic diagnosis. The benefits of genetic testing extended beyond providing a diagnosis. Genetic findings helped clinicians better understand a child's condition, guide treatment and monitoring, plan future care, and identify related health issues that may require specialist input. Genetic results also supported counselling for families by providing information about the cause of a condition and the likelihood of it occurring again in future pregnancies. In some cases, a genetic diagnosis helped avoid unnecessary investigations and connected families with condition-specific support groups and resources.