Guliyeva, U;
Tatishvili, NN;
Salayev, K;
Kaiyrzhanov, R;
Hiz, S;
Munir, K;
Williams, DA;
... Dulac, O; + view all
(2025)
Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan.
Seizure: European Journal of Epilepsy
, 132
pp. 125-132.
10.1016/j.seizure.2025.09.001.
![[thumbnail of Kaiyrzhanov_manuscript clean.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/text.png) |
Text
Kaiyrzhanov_manuscript clean.pdf Access restricted to UCL open access staff until 18 September 2026. Download (395kB) |
Abstract
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.
| Type: | Article |
|---|---|
| Title: | Consanguinity and treatment strategy determine seizure outcome and mortality in infantile epileptic spasms syndrome in Azerbaijan |
| Location: | England |
| DOI: | 10.1016/j.seizure.2025.09.001 |
| Publisher version: | https://doi.org/10.1016/j.seizure.2025.09.001 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Hypsarrhythmia, Consanguinity, Treatment, Hormone, Mortality, WEST SYNDROME, CHILDREN, PREDNISOLONE, MULTICENTER, VIGABATRIN |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10217152 |
Archive Staff Only
 |
View Item |
