Charity warns that adults with complex epilepsy could be misdiagnosed

Researchers at the Epilepsy Society warn that adults in social care with epilepsy and learning disabilities could be receiving the wrong medication or treatment due to lack of diagnosis.

The researchers studied over 1,000 individuals with complex epilepsy, testing for mutations in a single gene – SCN1A – which can cause the severe childhood condition, Dravet syndrome.

Eight people were found to have mutations in this gene, which gives rise to Dravet syndrome, associated with multiple issues including frequent and prolonged seizures and developmental delay.

There is also an elevated risk of Sudden Unexpected Death in Epilepsy for people with the syndrome.

They are recommending that all adults with complex epilepsy and associated disabilities should be offered genetic testing to ensure their healthcare needs are properly met.

Sanjay Sisodiya, Director of Genomics at the Epilepsy Society and Professor of Neurology at UCL, said: ‘To discover eight people with a specific rare syndrome in a group of people this size, is relatively high. This means those individuals could never have been properly diagnosed and may not have been receiving the most appropriate medications and treatments to optimise their care.

‘Some commonly prescribed seizure medications actually exacerbate seizures in people with Dravet syndrome and should be avoided. But without a diagnosis, this may not be considered. In an ideal world we would review the childhood notes of all adults with refractory epilepsy for features of the syndromic diagnosis, but this is just not practical in a busy clinic and often the notes are not available.

‘A comprehensive screening test is a cost effective way to screen for variants in multiple genes that might be associated with Dravet syndrome. And it could make a big difference to the individual and to their families.’

Clare Pelham, Chief Executive at the Epilepsy Society said the study offered real hope and potential relief for families who have been through decades of a diagnostic odyssey with no real answers.

‘This study shows how genetic testing can unlock a condition many years down the line and offer hope of better treatments, even in adult life.

‘It is heart-breaking to think there could be people in adult social services whose lives might be turned around by a simple genetic test, but who aren’t being given the opportunity to find out. It is imperative that the incredible breakthroughs that science is able to offer are made available to those who need them most.

‘We are pioneering the use of genetic testing in epilepsy through our genetic clinics at the Epilepsy Society. But it is important that this becomes routine practice across the NHS.’

Photo by Laurynas Mereckas