Genetic testing ‘can be useful in diagnosis of paediatric epilepsy’

Posted Aug 11 2014 in Epilepsy in children

A new study has demonstrated the effectiveness of using genetic testing as a means of diagnosing a certain form of difficult-to-treat epilepsy among children.

The Duke University research retrospectively reviewed experiences of using clinically available genetic tests in the diagnosis and management of paediatric drug-resistant epilepsy (PDRE) in one tertiary care clinic over one year. The aim was to determine the utility of genetic testing in this form of epilepsy, its yield in real-life clinical practice and the practical implications of this method of testing.

Genetic testing methods assessed included karyotype, chromosomal microarray, single gene sequencing, gene sequencing panels and/or whole exome sequencing techniques, depending on the judgment of individual clinicians.

Results published in the medical journal Epilepsy & Behavior revealed that doctors were more likely to perform genetic testing in patients with developmental delay, epileptic encephalopathy and generalised epilepsy.

Overall yield of diagnosis from at least one of the testing methods used was 34.5 per cent, rising as high as 46.2 per cent among patients receiving gene panels.

Meanwhile, disease-causing mutations that were not clinically suspected based on the 29 patients’ phenotypes and therefore represented novel phenotypes were found in 6.9 per cent of subjects, with an additional 17.2 per cent demonstrating pharmacologic variants.

Moreover, three patients were found to be carriers of recessive neurologic diseases, while variants of unknown significance were identified in 34.5 per cent of them.

The researchers concluded: “We conclude that genetic testing had at least some utility in our patient population of PDRE, that future similar larger studies in various populations are warranted, and that clinics offering such tests must be prepared to address the complicated questions raised by the results of such testing.”

Although antiepileptic drugs are effective in treating the condition in around 70 per cent of cases, there remains a sizeable population of patients whose seizures of drug-resistant, meaning additional diagnostic and treatment options are needed.

Posted by Steve Long

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