Authors :
Presenting Author: Deborah Requesens, PhD – University of Pennsylvania Orphan Disease Center
Manuela Ochoa-Urrea, MD – The University of Texas Health Science Center at Houston
Dennis Lal, PhD – Department of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA
Victoria Arteaga, MBA – Hispanic Society for Rare Diseases
Rationale:
Despite representing a growing share of the U.S. pediatric population, Hispanic children remain markedly underrepresented in genetic epilepsy research, clinical trials, and registries. This disparity is particularly striking given current demographic trends. Although Hispanic children represent approximately 23% of all U.S. births, they account for less than 12% of participants in major genetic epilepsy trials and registries. In theory, genetic epilepsies—many caused by de novo variants—and autism spectrum disorders should affect Hispanic children at least proportionately. Yet we see the opposite: a troubling pattern of under-diagnosis, delayed care, and limited participation in research and advocacy.
Methods:
This review explores the multidimensional roots of Hispanic underrepresentation in genetic epilepsy research. It draws on data from genetic epilepsies and related neurodevelopmental conditions to underscore how inequities in healthcare access, language inclusivity, cultural sensitivity, and socioeconomic support can be addressed to improve representation. It synthesizes data from public health databases, peer-reviewed studies, and national statistics to identify patterns in Hispanic children's access to genetic epilepsy diagnosis, care, and research. The review includes data to illustrate Hispanic population diversity and its underrepresentation in non-Hispanic categories, while integrating case studies and published clinical research on disparities in treatment pathways and outcomes.
Results:
The review identifies multiple compounding barriers to participation for Hispanic families. These include late or missed diagnoses, lack of bilingual resources, exclusion from English-only clinical trials, and systemic poverty-related obstacles. More than 93% of U.S.-based clinical trials lack Spanish-language materials, further excluding families from participation. Hispanic children are significantly less likely to undergo genetic testing, receive specialist referrals, or be considered for surgical interventions like epilepsy surgery. Nearly 30% of Hispanic children live in poverty, and over 55% of uninsured children—disproportionately Hispanic—have unmet medical needs. Even when diagnosed, only 17% of pediatric patients with drug-resistant epilepsy who receive surgical intervention are Hispanic children and they have 32% lower odds of receiving surgical treatment for medically intractable epilepsy compared to White children.
Conclusions:
Underrepresentation of Hispanic children in genetic epilepsy and neurodevelopmental disorder research is a multifaceted injustice. Efforts to close this gap must address language accessibility, cultural competence, and socioeconomic support. Clinical trials and advocacy networks must become intentionally inclusive, providing bilingual resources, financial support for participation, and trust-building outreach within Hispanic communities. By increasing visibility and participation, we can ensure that Hispanic children receive equitable care and that research outcomes reflect the true diversity of affected populations.
Funding: No funding was received.