Q&A: Improving diagnosis, surgical intervention key to addressing pediatric epilepsy

Key takeaways:

• Diagnosis delays are the main challenge in addressing pediatric epilepsy.
• Neuromodulation techniques for surgical intervention are the future of epilepsy care.

November is Epilepsy Awareness Month. According to the Epilepsy Foundation, the condition affects almost half a million people aged younger than 14 years in the United States.

In recognition of Epilepsy Awareness Month, Healio spoke with H. Westley Phillips, MD, pediatric neurosurgeon-scientist, epilepsy and genetics researcher at Stanford Medicine Children’s Health, who offered perspective and insight on the challenges within and future of pediatric epilepsy and surgical intervention.

Healio: What stoked your interest in pediatrics, and pediatric neurosurgery in particular?

Phillips: During medical school rotations, I had the opportunity to rotate on the pediatric service. It was at that point that I realized I wanted to treat children in some capacity. As I gathered experience, I found myself a lot more enthusiastic about rounds in the children’s hospital — and felt a calling in that environment.

As I went on in my medical school rotations, neurosurgery became the clear choice for the specialty I wanted to pursue. It aligned with my interest in neurosciences gathered from foundational mentors and lab experiences I had. And, I believe I have an innate passion for treating neurological disease, stemming from my time as a college football player and seeing my teammates deal with concussions. I find that being able to make a positive (and immediate) impact on a child’s life — and their trajectory through adolescence — to be very rewarding.

Healio: What do you consider the biggest obstacles or challenges to successful pediatric neurosurgery?

Phillips: There are two challenges that come to mind.

First, studies as recent as this year show that there is a significant delay from patients being diagnosed with drug-resistant epilepsy after failing two or more medications, and an eventual surgical evaluation. We also know that, after patients fail two or more properly dosed medications, there is less than a 5% chance of the next medication working. We are continuing to gather data that shows surgery is an effective treatment option, supporting upwards of 70% seizure freedom in some cases. To improve outcomes, we must shorten the time between diagnosis and surgical evaluation, which on average is 16 years. Early diagnosis and treatment are paramount for preventing the debilitating neurologic consequences of epilepsy. It can also help eliminate many of the anxiety-inducing effects that come with a disease of this nature.

Second, the field must continue to make surgery better. While we are seeing strong seizure freedom rates, we are also seeing instances of decreasing rates after 10 years or more, post-surgery. The field is continuing to look at how it can do a better job at the localization of seizure onset zones, which can help tailor surgical plans. A large part of this equation is identifying the mechanisms of epilepsy that may lend to treatment strategies and innovative precision medicine approaches.

Healio: How do you consider the role of surgery in the pediatric care continuum: first-line method, last resort or otherwise?

Phillips: From my experience, surgery is certainly not the last resort.

Where it falls within each individual patient’s journey differs based on a number of factors. For example, what is the age of the patient? Is there a lesion? How soon post diagnosis did a surgical workup occur? Is there a low-grade tumor or other tumor located with the epilepsy? Are they starting presurgical evaluation after failing one, two or more medications? We find that the treatment algorithm is different with every patient.

Healio: Tell us about your work in Stanford’s molecular genetics lab and its connection to pediatrics and neurosurgery.

Phillips: Our lab is focused on understanding the genetic underpinnings of epilepsy. Improvements in access, costs, and availability of next-generation sequencing techniques have fueled an advancement in the understanding of genetic causes of epilepsy.

Specifically, the role of acquired or somatic mutations that are only occurring in the brain, rendering a blood test insufficient for a diagnosis.

In our lab, we utilize pathological brain tissue through surgically obtained specimens to perform next-gen sequencing techniques to try and uncover the molecular genetic mechanisms of epilepsy.

This, with the hopes of further understanding how these mutations may inform surgical planning and hopefully inform precision medicine therapies, such as targeted gene therapies, in the future.

Healio: What do you consider the best path toward solving the issue of drug-resistant epilepsy?

Phillips: There are a few. One key to improving outcomes is earlier referrals for surgical workup. Another is improving diagnosis for seizure onset zone localization. And, the field must show an aggressive desire for understanding the underlying mechanisms of epilepsy, using that information for novel treatment strategies that may or may not include today’s surgical options.

In addition, it’s important that all of us that are caring for these patients — from general pediatricians to primary care providers, to epilepsy specialists — refer patients or bring the right people in the room for conversations about surgical workup. Having this information early in the process is critical to shortening gaps between diagnosis and workup, and it can help educate patients and families about the care options they have and the possibilities that surgery can provide. Every conversation can make a difference.

Healio: What are you looking forward to in the field in 2025 and beyond?

Phillips: An incredibly exciting part of epilepsy surgery are advances in neuromodulation. Looking at treatment for epilepsy even a decade ago, we see today that the care options, care strategies and patient eligibility have all greatly expanded. As we head into the new year, it should be very rare to see a patient with drug-resistant epilepsy whom we don’t feel that we have an option to help control or reduce episodes of seizures with surgery.

As we are becoming more facile with neuromodulation techniques and as technologies improve, patients can look forward to even better outcomes from neuromodulation devices.

A final message to clinicians, patients, and families this Epilepsy Awareness Month is that I am hopeful — and look forward to what is on the horizon.

For more information:

H. Westley Phillips, MD can be found online at: https://med.stanford.edu/profiles/harold-phillips and https://www.stanfordchildrens.org/en/doctor/h/harold-westley-phillips.html.