Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017
Nilüfer Eldes Hacıfazlıoğlu1, Emek Uyur2, Derya Güder3
1Department of Pediatric Neurology, University of Health Sciences, Zeynep Kamil Maternity and Children Hospital, Istanbul, Türkiye.
Insights
Classifying the cause of Infantile Epileptic Spasms Syndrome (IESS) is challenging, especially when genetic factors lead to structural or metabolic issues. A revised classification system is proposed to better categorize these complex genetic origins.
Area of Science:
- Neurology
- Genetics
- Developmental Pediatrics
Background:
- Infantile Epileptic Spasms Syndrome (IESS) is a severe developmental and epileptic encephalopathy.
- It can be treatment-resistant and negatively impact neurodevelopment.
- Accurate etiological classification is crucial for effective treatment, prognosis, and research.
Purpose of the Study:
- To investigate the challenges in classifying the etiology of IESS using the International League Against Epilepsy (ILAE) 2017 guidelines.
- To identify specific difficulties encountered in the diagnostic process.
Main Methods:
- Retrospective review of 108 IESS patients diagnosed between 2014 and 2023.
- Diagnosis confirmed by epileptic spasms and/or hypsarrhythmia on EEG.
- Etiological classification based on ILAE 2017 criteria.
Main Results:
- Etiology remained unclear in 27.7% of patients.
- Identified causes included genetic (14.8%), structural (61.5%), inherited metabolic diseases (3.7%), and infectious (0.9%).
- Significant difficulties arose in classifying patients with combined genetic origins leading to structural anomalies and metabolic diseases.
Conclusions:
- The ILAE 2017 classification system presents challenges for IESS cases with complex genetic etiologies.
- A revision is suggested, proposing a 'genetic origin' category with subgroups like genetic metabolic, genetic structural, and other genetic types.
- This aims to improve classification accuracy for better patient management and research.
Introduction:
Infantile Epileptic Spasms Syndrome (IESS) is an age-related developmental and epileptic encephalopathy that may be resistant to treatment and can negatively affect neurodevelopment. The classification of the etiology of IESS is important for its treatment, considering prognosis, and for future studies. The present study aimed to investigate the difficulties in etiologic classification of IESS based on the International League Against Epilepsy (ILAE, 2017).
Methods:
The data of patients diagnosed with IESS between 2014 and 2023 were reviewed retrospectively. The diagnosis of IESS was made by the presence of epileptic spasm and/or hypsarrhythmia on electroencephalography (EEG). Etiological classification was made based on the 2017 (ILAE) etiologic classification and the difficulties encountered were examined.
Results:
In this study, 108 patients, 63 (%58) girls and (%42)45 boys, with a mean age of 22±13 (3-72) months, were included. The etiology remained unclear in 30 patients (27.7%) and was detected in 78 patients (72.2%). The underlying causes of patients were genetic 16 (14.8%), structural 57 (61.5%), inherited metabolic diseases 4 (3.7%), and infectious 1 (0.9%). Congenital metabolic diseases were included in the metabolic diseases group. Since different etiologies could cause IESS, either alone or in combination, difficulties were encountered especially in grouping the patients with a genetic origin of the disease, resulting in structural anomalies and inherited metabolic diseases.
Conclusion:
The basic difficulty encountered during the ILAE classification of this large group of patients was to classify the genetic causes that result in structural anomalies and congenital metabolic diseases. Previous experience, along with the findings of the present study, suggest that ILAE 2017 etiologic classification may be revised, genetic reasons resulting in structural and/or metabolic abnormalities should be classified under the name of genetic origin and that genetic titles should be divided into subgroups such as genetic metabolic, genetic structural, and other genetic categories.
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