Dravet Syndrome: Prevalence and Diagnosis


Anup Patel, MD: Hello, and thank you for joining this NeurologyLivePeer Exchange® titled “Dravet Syndrome and Lennox-Gastaut Syndrome: Recent Treatment Advances.”

Dravet syndrome and Lennox-Gastaut syndrome [LGS] are severe epileptic encephalopathies that strike during early childhood. They are challenging to diagnose accurately and treat and often devastating with long-lasting consequences. While multiple pharmacologic and nonpharmacologic interventions exist, careful selection of therapy is important as some medications can exacerbate seizures.

In this NeurologyLivePeer Exchange® discussion, I am joined by a panel of colleagues, all experts in the field of Dravet and LGS. Together, we will discuss the diagnosis, management, unmet needs as well as new therapeutic options and provide a practical perspective on how the recent data apply to your clinical practice.

I am Anup Patel, section chief of neurology at Nationwide Children’s Hospital in Columbus, Ohio, and an associate professor of neurology and pediatrics at The Ohio State University College of Medicine in Columbus.

Participating today on our distinguished panel are:

Ian Miller, medical director of the Comprehensive Epilepsy Clinic at Nicklaus Children’s Hospital in Miami, Florida;

Dr Jesus Eric Pina-Garza, director of pediatric epilepsy at Tristar Medical Group Children’s Specialists in Nashville, Tennessee;

Dr Elizabeth Thiele, director of the Pediatric Epilepsy Program and director of the Herscot Center for TSC, Tuberous Sclerosis Complex, at Massachusetts General Hospital, and professor of neurology at Harvard Medical School in Boston, Massachusetts;

Dr Elaine Wirrell, director of pediatric epilepsy and professor of neurology at the Mayo Clinic in Rochester, Minnesota.

Thank you so much for joining us. Let’s begin. Ian, I’m going to have you kick it off and give us an overview of Dravet syndrome and Lennox-Gastaut syndrome. Can you specifically talk about Dravet syndrome?

Ian Miller, MD: Dravet syndrome is a genetic form of epilepsy that is surprisingly common. About 1 in 20,000 births are affected with Dravet, and it’s recognized by the early onset, usually within the first year of life and some fairly unique features, which include temperature sensitivity often triggered after vaccination and hemiconvulsive seizures that tend to last a long time. So it’s a surprisingly common problem and those are the ways in which you can recognize it early.

Anup Patel, MD: How would somebody diagnose it?

Ian Miller, MD: Well, if you have suspicious features like the ones I listed, the most definitive way to find the etiology and to make sure that you’re dealing with Dravet is to do a genetic test for any of the genes that are associated. About 90% of the Dravet syndrome individuals are affected by an SCN1A mutation, and there’s a pathologic mutation that can be identified.

Anup Patel, MD: That’s great. Eric, what about as far as misdiagnoses and challenges that adults may have, how can we address that or how common do you think that occurs?

Jesus Eric Pina-Garza, MD: Very frequent, both with Dravet and Lennox-Gastaut. To amplify Ian’s comment a little, in the United States, we are spoiled because we have a test that is free for genetics in epilepsy below 5 years of age, with Invitae. We have to take advantage of that because that gives you the extra opportunity to capture this diagnosis early, and therefore avoid things that can exacerbate the syndrome and also guide you to therapies that can be more helpful.

In the transition and the history of these 2 syndromes, there are many reasons why the diagnoses were lost. One, as recent as the last ICD-10 [International Classification of Diseases, 10th revision], we didn’t have a diagnosis of Lennox-Gastaut, which is one of the ways that we capture epidemiologically the diagnosis. So a lot of these patients were lost because they were not identified with the proper label. Also, we transitioned from paper records to electronic medical records, which if there was a mention of Lennox-Gastaut in a paper record, that may have been microfilm and stored somewhere else.

Another factor is the fact that the parents of a child with Lennox-Gastaut who knew the diagnosis may no longer be around and be able to transfer that information to the provider. So there are a ton of different traps that keep the diagnosis away, but the syndrome doesn’t go away. We have a lot of pediatric neurologists here because clearly we identify this as a childhood onset problem, but it’s more prevalent in adults because children with Lennox-Gastaut become adults.

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