Importance of Early Diagnosis of Dravet Syndrome  


M. Scott Perry, MD, stresses the importance of an early diagnosis for Dravet syndrome, and what tools are available to help with early diagnosis.

M. Scott Perry, MD: There are a lot of options in making a diagnosis for Dravet syndrome early on, and of course, as I said, the first thing is to have a high index of suspicion for these kids based on how they present. But fortunately, at least in the United States, we have some programs that make it much easier to acquire that genetic testing. For instance, there are some programs like the Behind the Seizure program, which offers free genetic testing, a panel of multiple genes involved in epilepsies that you can get for children under the age of 8 that present with new onset seizures. 

This is a great way to get that testing accomplished to try to see if they have a mutation in SCN1A or, frankly, in any of the other common genes. Once you know that a child has an SCN1A variant that is likely disease-causing, whether the presentation is maybe Dravet syndrome or not right at that point, then that really informs the treatment for you. There are certain drugs you should not use, and those would be drugs where there’s a sodium channel mechanism of action.

You should not use that to treat those kids on a daily basis because it can exacerbate their epilepsy. There are certain medications that may be more favorable for them as there have been 3 medicines just approved in the last couple of years specifically for the diagnosis of Dravet syndrome. It also informs you that there’s certain things you should have the family be aware of. Since we know that these kids can have more seizures in the setting of overheating, then you can make plans to limit that as much as you can.

Here I am in Texas, what kinds of things do we do? We make sure that if they’re outside, they’re taking frequent breaks in the shade, they’ve always got water with them, a cooling fan. A lot of kids wear a cooling vest, different things to keep the temperature down. When they’re getting their vaccinations, you may be treating ahead of time with antipyretics to keep the fever down around that.

You also know with these kids that they have long seizures, so knowing that this child has this condition, be clear that you have a plan not just for the family but for emergency medical personnel in how to treat this child if they have a seizure. What is the rescue plan, what steps need to be taken, and how long do you wait between each step? Because these kids can go into status epilepticus very quickly, it’s important to know that an aggressive therapy is necessary to try to stop that seizure before it gets out of hand.

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