NeuroVoices: Martina Bebin, MD, MPA, on Critical Aspects of Infantile Spasms Awareness

Martina Bebin, MD, MPA

Infantile spasms is an epileptic syndrome which occurs in children younger than 1 and rare older than 2 years characterized by clinical spasms, hysarrhythmia in an electroencephalogram, and most of the time spasms are accompanies by developmental delay or regression. This condition belongs to a group of drug resistant epilepsies, and has an incidence rate of 0.25-0.42 per 1000 children. The mainstay of first-line treatments for infantile spasms include adrenocorticotropic hormone, vigabatrin, and corticosteroids; however, these medications may be effective for some cases, as nearly a third of patients remain with uncontrolled spasms.

Each year, during the first week of December, the global community comes together for Infantile Spasms Awareness Week, an observance dedicated to raising awareness for the condition. The week aims to provide support to families, promote conversation around the latest research and treatment options, and encourage advocacy for better care and resources for children with the condition.

As part of a new iteration of NeuroVoices, NeurologyLive® sat down with epilepsy specialist Martina Bebin, MD, MPA, to discuss the knowns and unknowns around infantile spasms. Bebin, a professor of neurology at the University of Alabama at Birmingham Epilepsy Center, highlighted the importance of early detection and diagnosis, emphasizing how parent should trust their instincts and seek help if they notice unusual symptoms. In addition, she touched on the role of genetics, advanced imaging, and EEG in diagnosis and treatment, as well as the promising advances in genetic research, artificial intelligence, and personalized medicine.

NeurologyLive: Which aspects of infantile spasms should the public be aware of?

Martina Bebin, MD, MPA: Infantile spasms is a really unique type of seizure that we see in infancy, typically in children under the age of one, though sometimes we see it up until age two. I think it's a really tough situation for parents, because they may not be expecting their child to have seizures and may not know what to look for. I think the first step is being aware that something might be wrong and really trusting that gut feeling that something isn’t right with their baby.

And with the internet being such a major part of our daily lives, it’s a great resource. Websites from the Epilepsy Foundation and the TSC Alliance offer helpful videos that show what infantile spasms might look like. So, trusting your gut, looking for resources that give clear illustrations of what spasms can look like—because they come in a variety of forms and may not always look the same—and then reaching out to your pediatrician is key. It helps to record the event on video so your pediatrician can see it.

If the question crosses your mind as a clinician, and you're concerned about it as a parent, there's a simple way to confirm it with an EEG. An important point is that while an EEG might not always show the classic hypsarrhythmia (the typical brain wave pattern associated with infantile spasms), it may show early signs of abnormal brain activity. So, combining a clinical history with a video and an EEG can help make a diagnosis. Once confirmed, you can move forward with the appropriate management plan.

Early awareness, reaching out to your pediatrician quickly, and getting a prompt referral to neurology is critical because we know that the earlier infantile spasms are recognized and treated, the better the impact on the child’s development.

How have we optimized treatment for infantile spasms?

Ultimately, the goal is a cure. I think the biggest breakthrough we’re getting closer to is looking at this from a preventative standpoint. The biggest help here is if you know that a baby is at risk because they have a particular genetic condition. With the advancement of prenatal care, such as fetal ultrasounds and MRIs, we're able to identify brain malformations and genetic conditions very early—sometimes even before the first seizure or any abnormal EEG results. This gives us a head start in terms of planning and understanding the risk.

Being able to identify conditions before spasms even begin is a game-changer in terms of planning treatment and educating families. This preventative approach, using genetics and fetal imaging, is really important and will continue to evolve, leading us toward more personalized medicine.

How would you assess awareness of the genetic aspects of infantile spasms?

It’s a tough, often complicated area of medicine for parents to understand—and even for physicians. There’s a lot to learn. But we know that genetic conditions are one of the possible causes of infantile spasms, along with brain malformations, infections, and perinatal issues. Understanding the genetic factors is important because it can inform treatment decisions and give us more insight into the natural history of the condition, including what to watch for.

When I sit down with families to explain the importance of understanding the genetics behind their child’s condition, I’ve never had a family not be receptive. Most parents appreciate understanding what’s going on with their child and learning about the potential risks.

Are there any emerging research concepts around infantile spasms that excite you?

I think there are three big areas of research that are really exciting.

First, as more patients are diagnosed with genetic conditions, we’re collecting more data to understand how different mutations affect the risk of infantile spasms. We’re starting to develop models to predict which babies are more at risk, depending on the type of mutation they have. This allows us to design risk prediction models—taking into account a child’s genetic and clinical information—and start to get a sense of what the future may hold for that child. This is making significant progress.

Second, with the large amounts of EEG data we've collected from infantile spasms research, we can observe the evolution of brain activity over time. Sophisticated AI tools and spectral analysis are helping us study these electrical patterns and better understand brain network development in babies who have spasms or are at risk for them. This is taking our understanding to a whole new level.

Third, combining neuroimaging techniques with EEG data is providing a 3D picture of what’s going on in the brain. This combined approach—looking at both brain structure and function—offers an unprecedented view into how the brain is developing in babies with infantile spasms.

These three areas of research are all interconnected, and they’re rapidly evolving. Ultimately, we’ll likely be able to make earlier diagnoses and use these insights to develop models that predict risk. This will help inform treatment plans, which will move us closer to precision medicine.

What is the future treatment outlook for infantile spasms?

There’s a lot of promise on the horizon. The next big step is integrating new technologies—AI, imaging, and genomics—into a unified approach. This will really drive precision medicine forward. The goal is to be able to personalize treatment strategies for each patient, based on their specific genetic and clinical profile, so we can achieve the best possible outcomes.

Additionally, gene therapy is on the horizon and could play a huge role in the future treatment of infantile spasms. But we need a solid foundation first. Ideally, we’ll be able to personalize treatments in a way that is very specific to each child’s needs, which will lead to the best outcomes.