Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan.

OBJECTIVE

To determine the etiology of Infantile Epileptic Spasms Syndrome (IESS) in Azerbaijan, and to evaluate treatment response and outcome.

METHODS

For the seventy children referred for ongoing IESS over a 3-year period, we studied medical history, physical examination, EEG, neuroimaging and genetic testing.

RESULTS

37.1% were born to consanguineous parents. The etiology was genetic in 50.0% of cases and brain injury in 17.1%. Epileptic spasms persisted for a median of 11.5 months. 72.9% of children experienced additional seizure types. Consanguinity, genetic etiology, and conventional treatment were significant predictors of mortality (p = 0.016, p = 0.034, and p = 0.002, respectively), with a 7.7-fold increased risk of death in children of consanguineous parents. In multivariate analysis, genetic etiology and treatment regimens that did not include first-line therapies such as vigabatrin and hormones remained significant risk factors. The mean duration of epileptic spasms was shortest with hormonal therapy (5.8 months), compared to vigabatrin (14.8 months), or other anti-seizure medications alone (30.6months). The risk of global developmental delay was 3.4 times higher in children with additional seizure types, and 37-times higher in those with neurological signs.

SIGNIFICANCE: Genetic etiology, parental consanguinity, and treatment response that are correlated with increased mortality, are modifiable factors requiring education.