NeuroVoices: Christina Briscoe, MD; Emily Spelbrink, MD, PhD, on Addressing Equity Gaps in Infantile Epileptic Spasms Syndrome

Infantile epileptic spasms syndrome (IESS) remains one of the most urgent and high stakes diagnoses in pediatric neurology, where early recognition and prompt initiation of evidence-based therapy can dramatically influence long term developmental outcomes. Despite well-established first line treatments such as hormonal therapy and vigabatrin, delays in diagnosis, referral, and treatment remain common, particularly among historically marginalized populations.

At the recently concluded 2025 American Epilepsy Society (AES) Annual Meeting, investigators from the Pediatric Epilepsy Research Consortium (PERC) presented findings from a study examining caregiver perspectives on the barriers, facilitators, and processes contributing to delays in IESS diagnosis. Led by a group of pediatric epileptologists, including Christina Briscoe, MD, and Emily Spelbrink, MD, PhD, the qualitative study used in-depth, semi-structured interviews of 15 participants that led to a final grounded theory model on the reasons behind diagnostic delay.

During the meeting, NeurologyLive^® sat down with the duo to discuss the research and what they learned from families with IESS from underrepresented communities. Briscoe, who serves as a pediatric epileptologist at Boston Children’s Hospital, and Spelbrink, a clinical associate professor of epilepsy at Stanford Children’s Health, outlined some of the main findings contributing to delayed diagnosis and treatment, such as access barriers, communication challenges, and mistrust. As part of a new iteration of NeuroVoices, the duo highlighted how these findings shape future research, how clinicians can make immediate changes to practice, and where broader systemic and policy level work is needed.

NeurologyLive: How was this Special Interest Group formed and what motivated the focus on equity in infantile epileptic spasms syndrome?

Christina Briscoe, MD: This work really grew out of several years of research within the Pediatric Epilepsy Research Consortium infantile spasms group. About three years ago, we published work examining treatment practices for infantile spasms across the United States. That work showed that while we have strong evidence about what constitutes standard of care therapy, not all children are receiving that care equally. In particular, children whose families identify as Black and non-Hispanic and children with public insurance were less likely to receive first line, evidence based treatments such as hormonal therapy and vigabatrin.

Those findings were deeply concerning, but they also raised a bigger question. We could show that inequities existed, but we did not understand why. We knew from other work in the literature that disparities often arise from complex interactions between families, clinicians, and health systems. We wanted to move beyond describing inequities and start understanding the root causes from the perspective of families themselves.

At Boston Children’s Hospital, we then conducted a quality improvement study to look at our own population. We examined a range of demographic factors, including race, ethnicity, language, insurance, and neighborhood level socioeconomic indicators. Interestingly, we did not find clear demographic predictors of delayed treatment in our local cohort, although our study may have been underpowered. What we did identify was a consistent delay between families first presenting to a health care provider and ultimately reaching a neurologist who could diagnose infantile spasms and initiate appropriate treatment.

Those findings aligned with earlier work by Sean Hussain and others in California, who demonstrated inequities related to time to first effective provider. When you step back, these studies across different regions were all pointing to the same issue. The problem was not simply whether neurologists knew what to do. It was that families were getting stuck in earlier parts of the health care system.

As someone who is White, English speaking, and trained within academic medicine, I felt strongly that we needed to listen directly to families whose experiences differed from my own. That realization led to this Special Interest Group and to a qualitative research approach focused on lived experiences. We partnered with families from Black, Indigenous, and other people of color communities, as well as Spanish speaking families, to better understand how delays happen, how families experience the diagnostic process, and what barriers feel most significant to them.

Emily Spelbrink, MD, PhD: I think it is important to emphasize how different this type of work is from what most of us are trained to do. In epilepsy, we are very comfortable with randomized trials, seizure counts, and statistical endpoints. This work required a completely different mindset. It required sitting with families, listening without trying to fix things immediately, and then figuring out how to rigorously analyze those narratives in a way that is scientifically valid and actionable.

What really impressed me about this project was that it did not stop at identifying disparities. It asked why they exist and how systems of care contribute to them. This is where implementation science becomes so important. If we want to change outcomes, we need to understand how care is actually delivered on the ground, not just what guidelines recommend.

What were some of the key themes or root causes that emerged from the family interviews?

Briscoe: One of the most important findings was that there is no single point of failure. Families described getting caught in cycles of misdiagnosis, reassurance, or delayed referral. Many parents initially raised concerns with pediatricians or emergency departments and were told that what they were seeing was normal infant behavior, reflux, startle, or benign movements.

In some cases, families returned multiple times before being referred to neurology. Others faced long wait times for appointments or difficulty navigating insurance requirements. For families who did not speak English as their primary language, communication barriers added another layer of complexity. Even when interpreters were available, families described feeling that their concerns were not fully understood or prioritized.

Trust came up repeatedly. Some families expressed fear about advocating too strongly, worrying that they would be labeled as difficult or that it could negatively affect their child’s care. Others described prior experiences with the health care system that made them hesitant to push back or seek second opinions. These dynamics are shaped by broader societal inequities, but they play out very concretely in the clinic and emergency department.

Using a grounded theory approach, we developed a conceptual model that illustrates how families can become stuck in these cycles and what factors help them break out. Sometimes it was a clinician who recognized spasms immediately. Sometimes it was a family member who had prior experience with epilepsy. Sometimes it was sheer persistence. Understanding these pathways helps us identify where interventions might be most effective.

Spelbrink: From a clinical standpoint, the consequences of these delays are enormous. We know that infantile spasms is one of the few epilepsies where timing truly changes outcomes. Data presented at this meeting and elsewhere show that when treatment is initiated within one to two weeks of onset, children without underlying developmental conditions can have near normal cognitive outcomes. When treatment is delayed beyond several weeks or months, the risk of long term developmental impairment increases substantially.

That means that every barrier matters. A missed diagnosis, a delayed referral, a long wait time, or a breakdown in communication can all translate into real harm. When we talk about equity, this is what we mean. These are not abstract concepts. They are differences that shape a child’s entire life trajectory.

How does this work shift the way clinicians should think about infantile spasms beyond the medications themselves?

Briscoe: One of the biggest lessons is that knowing the right treatment is not enough. We can have perfect guidelines, but if families cannot access care quickly or feel unheard, those guidelines will not improve outcomes.

Clinicians need to think about infantile spasms as a systems problem. That includes educating frontline providers, streamlining referral pathways, and reducing administrative barriers to treatment. It also includes reflecting on how we communicate with families. Simple things like validating concerns, explaining uncertainty honestly, and being willing to escalate evaluation can make a meaningful difference.

Another important piece is advocacy. Many of the barriers families described are not within the control of individual clinicians, such as insurance delays or lack of subspecialty access in certain regions. Neurologists have a role to play in advocating at institutional and policy levels to ensure that effective therapies are available and accessible.

Spelbrink: I would also add that we need better treatments. Our first line therapies have not changed in more than two decades. For about 40 percent of children, those therapies fail. After that, the effectiveness of additional antiseizure medications drops to single digits. Equity is not just about access to existing treatments. It is also about ensuring that research investment leads to better options for children who do not respond to current therapies. That requires engagement from academia, industry, advocacy groups, and funding agencies.

From an education standpoint, what should neurologists and other clinicians be emphasizing more?

Briscoe: Education has to happen at multiple levels. We need to continue educating pediatricians, emergency medicine providers, and family medicine clinicians about recognizing spasms and acting urgently. But education also needs to focus on communication and trust building.

Families told us that feeling heard and respected influenced whether they persisted in seeking care. Clinicians should be aware of how power dynamics, language barriers, and implicit bias can affect these interactions. Taking extra time to listen and explain can change the trajectory of care.

We also need to educate clinicians about navigating barriers. That includes understanding insurance processes, knowing how to expedite referrals, and connecting families with resources. These are not traditionally emphasized in medical training, but they matter enormously in practice.

Spelbrink: I agree, and I would emphasize urgency. Infantile spasms is a neurologic emergency. We need to treat it as such. That means reducing the time between first concern and effective therapy as much as possible. Education should also emphasize follow through. Starting treatment is only the first step. Monitoring response, adjusting therapy quickly if there is no improvement, and considering alternatives such as ketogenic diet or surgical evaluation when appropriate are all critical.

Looking ahead, what are the next steps for this Special Interest Group and for research in this area?

Briscoe: From a research perspective, implementation science is a major priority. We already know what treatments work. The challenge is delivering them equitably and efficiently. That means testing interventions that address referral pathways, communication strategies, and system level barriers.

We also want to continue partnering with families. Their voices are essential. This work cannot be done solely from the clinician perspective. Families bring insights that we simply do not have otherwise. At the same time, we need continued investment in therapeutic development. For children who do not respond to current treatments, the stakes are incredibly high. Improving outcomes for those children requires innovation.

Spelbrink: I would add that collaboration is key. This is not something one center or one group can solve alone. The Pediatric Epilepsy Research Consortium provides a powerful platform for sharing data, experiences, and best practices. Ultimately, the goal is simple but ambitious. Every child with infantile spasms should receive timely, effective treatment, regardless of race, language, insurance, or geography. Achieving that will require sustained effort, humility, and partnership across the epilepsy community.

Transcript edited for clarity. Click here for more AES 2025 coverage.