Smartphone Diagnosis in Infant Seizures Could Be Highly Effective

Andrew N. Wilner, MD; Chethan Rao, DO


April 27, 2022

This transcript has been edited for clarity.

Andrew N. Wilner, MD: Welcome to Medscape. I'm Dr Andrew Wilner, reporting from the American Epilepsy Society meeting.

Today, I have the pleasure of speaking with Dr Chethan Rao, a child and adolescent neurology resident from the Mayo Clinic in Jacksonville, Florida. Dr Rao has a particular interest in pediatric epilepsy. Welcome, Dr Rao.

Chethan Rao, DO: Thank you, Dr Wilner. It's a pleasure to be here, and thanks for taking the time to highlight our work.

Wilner: You had a very interesting paper at the meeting that I wanted to talk about, focused on infantile spasms and smartphone video. Before we dive into the paper, tell us: What are infantile spasms, and why is it important to diagnose them early?

Rao: Infantile spasms, also known as epileptic spasms, are 1- to 2-second seizures, and they typically consist of sudden stiffening of the body with brief bending forward or backward of the arms, legs, and head. They usually happen around age 3-8 months, and they typically occur in clusters, most often after awakening from sleep.

The incidence is about 1 in 2000-3000 children. Many kids with spasms go on to develop seizures that are very difficult to treat, like Lennox-Gastaut epilepsy, and many go on to have developmental delays as well.

Wilner: Are these subtle? In other words, could a parent have a child like that and not really recognize that this is something abnormal? Or are they so dramatic that parents say, "We're going to the emergency room"?

Rao: One of the problems that we encounter often is that in this age group of infants, they have benign sleep myoclonus; they have Sandifer syndrome related to reflux. Those can be very difficult mimics of spasms. They're not the most clear-cut, but they look usually different enough from normal baby movements that they get parents to seek medical attention.

Wilner: You mentioned that the infantile spasms really are a type of epilepsy and symptomatic, usually, of some underlying neurologic condition. Why is it so important to diagnose them early?

Rao: Great question. Many studies have looked at developmental outcomes based on when spasms were diagnosed and treated, and all of them have replicated time over time that the earlier you get to treatment for the spasms, the better the outcomes are for seizure control and for development.

For this reason, infantile spasm is considered a neurologic urgency in our world. Like I said, accurate diagnosis is often complicated by these potential mimics. Prompt EEG is one of the most important things for confirmation of diagnosis.

Wilner: But to get that EEG, it has to get all the way to the neurologist, right? It's not something they're going to do in the ER. I saw a statistic: There are millions, if not billions, of smartphones out there. Where does the smartphone come in?

Rao: Absolutely. One of the things that we have on our side these days is that almost everyone has a smartphone at their disposal. One of the recent polls last year showed that more than 95% of adults of childbearing age have smartphones with video access. As some other studies have shown in the adult world, we all really have an epilepsy monitoring unit minus the EEG in our own pockets.

It's definitely a useful tool, as that first screening video can be used in adjunct to history and physical. There have been many of studies on the adult epilepsy side showing the predictive value of smartphone video for differentiating things like epileptic seizures and nonepileptic spells. What we wanted to do is use smartphone video to pin the diagnosis early of infantile spasms and get it treated as quickly as possible.

Wilner: I'm a fan. Every now and then, I do have a patient who brings in a video of some spell. I'm an adult neurologist. The patient had a spell, and you ask them — of course they don't remember — and you ask the witness, who usually is not a trained observer. There have been one or two occasions where I thought, "Well, I don't know if that was really a seizure." Then they show me the video and it's like, "Wow, that is definitely a convulsion." A picture definitely can be worth a thousand words.

You studied this systematically for your poster. Tell me about what you did.

Rao: Since the poster, we've actually expanded the study, so I'll give you the updated version. We looked at 101 infants retrospectively at two large children's healthcare centers: Nemours Children's, associated with Mayo Clinic in Jacksonville, Florida, and Texas Children's Hospital in Houston, Texas. We narrowed it down to 80 patients whom we included. Of these, 43 had smartphone video capture when they first presented and 37 had no video when they first presented.

We found a 17-day difference by median in the time to diagnosis and treatment. In other words, the video group was diagnosed and treated 17 days by median, compared with the no-video group. Although 17 days may not sound like a big number, in this context it can make a huge difference. That's been shown by one of these key studies in our field called the UK Infantile Spasms Study. The 2-week difference made about a 10-point difference on the developmental scale that they use — so pretty significant.

Wilner: Let me think about this for a minute. Was that because the parents brought the child in with their video and the doctor said, "Hey, that's infantile spasms. Here's your shot of ACTH [or whatever they're using these days]." Or was it because the parents who were attentive enough to use video brought their kids in sooner?

Or was this the time from when they brought the child in to treatment? Is that the time you looked at? So it wasn't just that these were more attentive parents and more likely to use the video — you're looking at the time from presentation with or without video until treatment, is that right?

Rao: We looked to the time from the start of the spasms, as reported by the parents, to the time of diagnosis and then the start of spasms to the time of treatment. What you asked was a fantastic question. We wanted to know who these parents are who are taking videos vs the ones that are not.

We looked at the race/ethnicity data and socioeconomic status data. There were no significant differences between the video and nonvideo group. That would not explain the difference in our results here.

Wilner: Do you have plans to follow these approximately 40 children 5 years from now and see who's riding a bicycle and who's still stuck in the stroller? Is there going to be a difference?

Rao: Because time to diagnosis and time to treatment were our primary outcomes, long-term follow-up may not really help as much in this study. We did have a couple of other ideas for future studies. One that we wanted to look at was kids who have risk factors for developing spasms, such as trisomy 21, tuberous sclerosis, and congenital cortical malformations; those kids are at a much higher risk for developing spasms around 3-8 months of life.

In giving targeted counseling to those families about how they can use smartphone video to minimize the time to diagnosis and treatment, we think we may be able to learn more and maybe do that prospectively.

The other interesting idea is using artificial intelligence technology for spasm detection in some of these smartphone videos. They're already using it for different seizure types. It could be an efficient first pass when we get a whole bunch of smartphone videos to determine which ones we need to pursue further steps — to see whether we need to get long-term EEG monitoring or not.

Wilner: As an epileptologist, I was going to say that we have smartphone EKG. All we need now is smartphone EEG, and then you'll have all the information you need on day one. It may be a ways away.

As a bottom line, would it be fair to say that parents should not hesitate to take a video of any suspiciously abnormal behavior and bring it to their family doctor or pediatric neurologist?

Rao: Yes. I was happy to see the Tuberous Sclerosis Alliance put out a promotional video that had some steps for when parents see things that are suspicious for spasms, and they do recommend using smartphone video and promptly showing it to their doctors. I think the difference that we hope to provide in this study is that we can now quantify the effect of having that smartphone video when they first present.

My takeaway from this study that I would like to show is encouraging the use of smartphone video as an adjunct tool and for providers to ask for the videos, but also for these pediatric centers to develop an infrastructure — either a secure, monitored email address like we have at our center or a patient portal — where parents can submit video concerning for spasms.

Wilner: Save the trip to the doctor. Get that video out there first.

Rao: Especially in the pandemic world, right?

Wilner: Yes. I understand that you are a neurology resident. To wrap up, what's the next step for you?

Rao: I'm finishing up my child neurology residency this year, and I'm moving out to Stanford for pediatric epilepsy fellowship. We're preparing this project we're talking about for submission soon, and we're working on another project, which is a systematic review of genetic testing and the presurgical workup for pediatric drug-resistant focal epilepsy.

Wilner: Excellent. That's pretty exciting. Good luck to you. I want to thank you very much for telling us about your research.

Rao: It was a pleasure speaking with you, and I look forward to the next time.

Wilner: I'm Dr Andrew Wilner, reporting for Medscape. Thanks for watching.

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