Threshold analysis of the patient’s route in infantile epileptic spasms syndrome: from the onset of spasms to first-line therapy

Background. Infantile epileptic spasms syndrome (IESS) is one of the most severe forms of early-onset epileptic encephalopathies and is associated with a high risk of pharmacoresistance, severe cognitive impairment, and premature mortality. Disease prognosis critically depends on the timeliness and adequacy of first-line therapy. Although delayed treatment of IESS is a universal problem, the specific stages of the patient care pathway at which delays occur may vary substantially depending on the organization of healthcare delivery.

Aim. To identify key threshold stages of the patient care pathway and major barriers to timely initiation of rational therapy in children with IESS within the healthcare system of Saint Petersburg.

Materials and methods. A retrospective observational study was conducted using the archive of the Epilepsy Clinic since 2018. A total of 130 children diagnosed with IESS according to International League Against Epilepsy criteria were included. Clinical and anamnestic data, magnetic resonance imaging findings, electroencephalography/video-electroencephalography monitoring results, and genetic testing data were analyzed. A threshold analysis of six consecutive stages of the patient care pathway was performed, from initial recognition of spasms to prescription of appropriate first-line therapy regimens. Early treatment response was assessed 2 weeks after therapy initiation

Results. Developmental abnormalities prior to epileptic spasms onset were identified in 78 % of children; potentially epileptogenic magnetic resonance imaging abnormalities were found in 67 %. Causative genetic variants were detected in 18 % of the entire cohort. In 39 % of patients, the diagnosis was not established within the first month after spasm onset. In 96 (74 %) of 130 children, rational therapy was initiated more than one month after spasm onset. Six threshold points of potential treatment delay were identified. The main point of patient loss was late recognition of spasms at the stage of initial medical contact (loss of 27 out of 130 children). Moreover, delay at this stage deprived the child of any chance to receive timely therapy and constituted an insurmountable barrier to the subsequent steps of care. The second most important barrier was failure to initiate appropriate first-line therapy at treatment onset. The effectiveness of first-line therapy was more than 12-fold higher than that of standard antiseizure medications.

Conclusion. Timely initiation of rational therapy in IESS is the result of passing through several consecutive threshold stages of the patient care pathway. The key systemic barriers in Saint Petersburg are late recognition of epileptic spasms and insufficient implementation of first-line therapy. These findings highlight the necessity of analyzing patient pathways within specific healthcare models and developing targeted programs for early detection and optimization of initial treatment.