What is the impact of etiology, lead time to treatment, and parental awareness on outcomes in infantile epileptic spasm syndrome?

Objective: Infantile epileptic spasm syndrome (IESS) is a kind of developmental epileptic encephalopathy that can lead to severe outcomes, including drug-resistant epilepsy and impaired neurodevelopment. The underlying etiology, early diagnosis, and adequate treatment impact the outcome. Our study focused on examining the factors that influence the prognosis and the level of knowledge among families regarding IESS.

Methods: In the Department of Pediatric Neurology at Gazi University Hospital, we examined 62 IESS children's demographics, neuroimaging, metabolic and genetic findings, seizure characteristics, treatment choices, and long-term outcomes. Our study examined family awareness of seizures, lead time to treatment(LTT), and their impact on prognosis.

Results: Forty-two (67.8 %) patients presented with a symptomatic cause, with over half experiencing intraventricular hemorrhage and/or periventricular leukomalacia attributable to prematurity. The hormonal therapy (tetracosactide or oral prednisolone) was the preferred treatment. Treatment was effective for two-thirds of the patients. Nevertheless, hardly 50 % of the families acknowledged the "event" as a seizure. However, 34 (61 %) individuals had sought medical advice from a doctor during the first seven days. The mean time from the start of seizures to seeking medical care was 9.2 ± 5.7 days.

Conclusion: Our research revealed that the etiology was the most significant factor influencing the long-term outcomes of IESS. Additionally, we demonstrated that the clinicians who initially encountered the patients promptly referred them to pediatric neurology departments, despite the fact that the families' seizure awareness was poor. To help prevent this circumstance, it is important to provide information about infantile spasms to the families of high-risk infants.