Abstracts

Rationale: Among children with infantile spasms (epileptic spasms), treatment delay is associated with a substantial reduction in long-term developmental outcome. With our informal observation that diagnosis and treatment is often substantially delayed among patients presenting to our center, we set out to quantify diagnosis/treatment delay and identify specific barriers to ideal care. Methods: Children with video-EEG confirmed infantile spasms were retrospectively identified in a clinical database and cross-referenced with clinic schedules. Upon presentation for follow-up, parents of children with infantile spasms were surveyed on their experiences with diagnosis and treatment, with ascertainment of medical and sociodemographic factors potentially related to infantile spasms care. We specifically determined dates of (1) infantile spasms onset, (2) first visit with any healthcare provider, (3) first visit with any neurologist, and (4) first visit with an "effective provider". An effective provider was defined as a healthcare provider who both identified infantile spasms and prescribed a first-line treatment, namely ACTH, corticosteroids, vigabatrin, or surgical resection. Medical records were reviewed to corroborate parental survey responses. Time to first effective provider was evaluated using Cox proportional hazards regression. Results: We surveyed the parent(s) of 100 children with past or ongoing infantile spasms. Only 29% of patients were seen by an effective provider within one week of spasms onset. Median time from spasms onset to first visit with an effective provider was 24.5 days (IQR 0 ?" 110.5). In sequential univariate analyses, time to first effective provider was not predicted by any parental sociodemographic attributes, including race, ethnicity, religion, household income, education level, type of healthcare insurance, and distance from patients' home to our tertiary center (all p >> 0.05). In open-ended discussion, numerous parents reported that their suspicions that "something was wrong" were often discounted by pediatricians, emergency room physicians, and in some cases even neurologists. Furthermore, in a qualitative analysis, many parents reported self-diagnosis using internet resources (e.g. www.youtube.com) and self-referral after a variety of diagnostic misadventures and false reassurance by healthcare providers. Conclusions: This study demonstrates that substantial diagnostic and treatment delay is common among children with infantile spasms. However, unlike most diseases, factors such as income, favorable healthcare insurance, and proximity to specialty care did not protect against the often significant delays observed in this cohort. These results suggest that a simple lack of awareness of infantile spasms among healthcare providers may be responsible for potentially catastrophic delays in diagnosis and treatment. There is a desperate need for effective interventions to increase basic familiarity with infantile spasms among healthcare providers. Funding: This study was accomplished with support from the Elsie and Isaac Fogelman Endowment, the Hughes Family Foundation, and the UCLA Children's Discovery and Innovation Institute.