Dravet and Lennox-Gastaut Syndrome Diagnostic Tools

Anup Patel, MD: You guys have alluded to the importance of early diagnosis. But, Elaine, what tools are available? Eric mentioned some genetic testing, but how would somebody be able to access those tools?

Elaine C. Wirrell, MD: I think when we’re seeing a young child with very challenging seizures or even an older individual who’s had seizures for a while, one of the most important tools is still going back to the history and physical and making sure that you actually take time to see how that epilepsy has evolved. And particularly in Dravet, the initial clinical presentation is so characteristic, this onset in an otherwise previously healthy normal child, and these prolonged seizures, often hemiconvulsive, often triggered by fever, and then sort of seeing how those evolve over time, 2 to 3 years of age, starting to develop myoclonic seizures, atypical absences. And then as you get into your adolescent/adult years, those seizures change. You tend to not have so much the prolonged seizures, but you tend to have a lot of the nocturnal generalized tonic-clonic seizures. So really get a very careful history of how that epilepsy has evolved.

Similarly, for Lennox-Gastaut, take the time to really see how those seizures have evolved. And going back to the early days, getting the early records, I think that is still the most important tool that we have. And then I think certainly looking at the EEG [electroencephalogram]. In Dravet syndrome, there’s not a lot of really classic findings. It’s a lot more nonspecific, but early findings of a photoparoxysmal response in a young child might suggest that diagnosis. And then in Lennox-Gastaut, we talked about the slow spike-wave in a young child, and we also talked about the importance of looking for generalized paroxysmal fast activity on the nighttime EEG. So getting an EEG with sleep recorded is very important.

Then I think with Dravet syndrome, the importance of that early genetic testing, and that is I think becoming easier to get, but still that is often quite a challenge to get approval for. And it is so important so we can actually make that diagnosis and make it correctly and choose the most appropriate therapy and avoid things that can make things worse.

Anup Patel, MD: I think as we evolve and change within the health care system, I hope those challenges are going to be easier for us to overcome because of the impact. And we’ll talk about treatment in a little bit. But I think that’s such an important aspect. Our partnerships with health care and the health care system on making sure those tests are available and covered by insurance companies. Eric, go ahead.

Elaine C. Wirrell, MD: Can I just say one more thing?

Anup Patel, MD: Yes, please.

Elaine C. Wirrell, MD: I think the importance of thinking about epilepsy syndrome as well, and I think as pediatric epileptologists, that’s a conversation that we’re all commonly thinking about, what syndrome is this. But moving beyond is this focal epilepsy or generalized epilepsy, and is there an MRI [magnetic resonance imaging] lesion, yes or no, I think really as a pediatric epileptologist, we need to be thinking about epilepsy syndrome.

Anup Patel, MD: Yes, and I think that’s going to be an important lesson for us to teach our colleagues and also the residents who are coming up in training. Ian, Eric mentioned how the code changed. I want to spend a couple minutes; in the ICD-10 [International Classification of Diseases, Tenth Revision] system, we have a Lennox-Gastaut syndrome code. Do you think we need one for Dravet because that doesn’t exist?

Ian Miller, MD: Definitely, and for the same reasons that Eric outlined in terms of being able to track it epidemiologically. It certainly facilitates things from a medical system standpoint when insurers are trying to determine whether prescriptions are appropriate and you’re able to code that as an ICD-10 diagnosis. It helps. So right now, there isn’t one, but the Dravet Syndrome Foundation has been extremely active in advocating in many ways, but one way in which they’ve done that is by going to the ICD-10 board and proposing that a code be added. So that’s in the works. We’re cautiously hopeful that