Russian Journal of Child Neurology

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.

Aim. To demonstrate that elevated serotonin levels in children with autism are linked to gastrointestinal dysfunction and hyperactivation of the immune system.

Materials and methods. Over a period of one and a half years (from 15 January 2023 to 15 July 2024) 680 children diagnosed with conditions classified under F84 (autism spectrum disorders, including atypical autism) were analyzed at the “Verum” medical clinic. The study involved the assessment of whole blood serotonin levels, as well as immunological markers such as immunoglobulin E and eosinophilic cationic protein.

Results and conclusion. The results confirmed that a significant proportion of children with autism exhibited elevated serotonin levels, consistent with findings from previous research. The association between elevated serotonin levels and behavioral disturbances, including self-injurious behaviors (such as pinching, head-banging, and scratching) and motor stereotypies (repetitive movements), was noted. Additionally, a correlation was observed between elevated serotonin and immune system dysfunction, reflected in increased immunoglobulin E and eosinophilic cationic protein levels. Stabilization of the gastrointestinal tract and immune system was associated with a reduction in serotonin levels and an improvement in negative behavioral symptoms.

HIHARS-AA (hyperventilation-induced high-amplitude rhythmic slowing with altered awareness) is a non-epileptic, age-dependent condition that can coexist with childhood absence epilepsy, clinically indistinguishably mimicking absence seizures. Without video-electroencephalographic monitoring, misinterpretation of this phenomenon leads to diagnostic errors and unnecessary polytherapy, whereas correct verification of the phenomenon allows for optimized treatment and seizure control. The authors present a literature review with a case report.