Authors :
Presenting Author: Christina Briscoe, MD, EdM – Boston Children's Hospital
Laura Kirkpatrick, MD – University of Pittsburgh
Maria Planchart Ferretto, MD – Boston Children's Hospital
Meghann Kelly, LICSW – Boston Children's Hospital
Chris Ryan, LICSW – Boston Children's Hospital
Shanna Yue, MD – Boston Children's Hospital
Stephanie Donatelli, MD – Boston Children's Hospital
Candice Marti, MSN, CPNP – Boston Children's Hospital
Eva Catenaccio, MD – The Children's Hospital of Philadelphia/University of Pennsylvania
Shaun A. Hussain, MD, MS – Division of Pediatric Neurology, Department of Pediatrics, UCLA Mattel Children's Hospital, David Geffen School of Medicine
Chellamani Harini, MD – Boston Children's Hospital
Aisha Khizar Yousafzai, PhD – Harvard T.H. Chan School of Public Health
Rationale:
Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy that requires prompt diagnosis and treatment to optimize neurodevelopmental outcomes. Children who are Black, Indigenous, and People of Color (BIPOC) and whose families use a language other than English are more likely to have delays in diagnosis. However, the underlying mechanisms contributing to these inequities remain poorly understood. We aimed to explore caregiver perceptions regarding the processes that explain delays, including barriers and facilitators to timely IESS diagnosis.Methods:
We conducted a qualitative study using in-depth, semi-structured interviews with BIPOC caregivers of children diagnosed with IESS. Transcripts were coded inductively using an iterative grounded theory approach. Two independent coders reviewed transcripts, followed by consensus meetings every three interviews to refine the coding framework. Theoretical saturation was reached after 12 interviews, with three additional interviews conducted to confirm the stability of emerging themes, for a total of 15 participants. After grounded theory was generated, we conducted member checking with 5 participants without significant changes to the theory. After grounded theory was generated, we conducted member checking with 5 participants without significant changes to the theory.Results:
The final model (Figure 1) theorizes that children with IESS can become stuck in a cycle of misdiagnosis. Contributing factors to sustaining the cycle included diagnostic overshadowing, lack of familiarity/knowledge, and the false reassurance of non-urgent neurology appointments being booked. During the diagnostic journey, families described coming to a breaking point that led to eventual EEG and then IESS diagnosis. Caregiver confidence in their instinct, prior counseling about seizures, and social support were among the factors that facilitated breaking the cycle. Thematic analysis revealed three core drivers of diagnostic delay: system-level barriers, such as long wait times, insurance denials, and lack of interpreter access; breakdowns in trust and communication, including perceived dismissal and racial or linguistic bias; and caregiver-level challenges, such as limited knowledge, uncertainty about next steps, and difficulty advocating within complex healthcare systems.Conclusions:
Delays in IESS diagnosis among BIPOC families result from multi-level barriers both from within and from outside the medical system. Scheduling non-urgent neurology appointments leading to diagnostic delay represented one key barrier identified in this study that epileptologists can address through institutional quality improvement. Additional interventions focused on primary care provider education, culturally and linguistically responsive care, and caregiver navigation support are urgently needed. These will be guided by our next steps in engaging primary care providers in interviews and building a caregiver-based participatory action research team.
Funding:
Harvard Medical School Office of Diversity, Equity, Inclusion, and Community Partnership.