Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural
Sara Matricardi, Alberto Spalice, Vincenzo Salpietro
1averrott@unich.it.
Insights
Epilepsy in children with full trisomy 18 is often linked to brain malformations, leading to earlier, more severe seizures and drug resistance. Normal brain imaging in these children is associated with milder epilepsy and better treatment outcomes.
Area of Science:
- Pediatric Neurology
- Clinical Neurophysiology
- Medical Imaging
Background:
- Full trisomy 18 is a genetic disorder associated with significant neurological challenges.
- Epilepsy is a common comorbidity in children with full trisomy 18, impacting their development and quality of life.
- Understanding the relationship between neuroimaging findings and epilepsy characteristics is crucial for effective management.
Purpose of the Study:
- To investigate the clinical, electroencephalographic (EEG), and neuroimaging features of epilepsy in children with full trisomy 18.
- To compare the evolution and outcome of neurological phenotypes based on the presence or absence of structural brain malformations.
- To identify factors influencing seizure onset, severity, and treatment response.
Main Methods:
- Retrospective study of 18 pediatric patients with full trisomy 18 and epilepsy.
- Comprehensive clinical assessment, including detailed seizure history and semiology.
- Electroencephalography (EEG) for seizure pattern analysis.
- Neuroimaging studies (MRI/CT) to evaluate brain structure, categorizing patients into groups with and without malformations.
Main Results:
- Patients with structural brain malformations (Group 1) had significantly earlier seizure onset (2 months) compared to those with normal imaging (Group 2; 21 months).
- Group 1 exhibited more severe epilepsy, including multiple seizure types, polytherapy use (80%), multifocal EEG abnormalities, and drug-resistant epilepsy (90%).
- Group 2 patients presented with single seizure types, non-specific EEG patterns, and responded well to monotherapy.
Conclusions:
- Epilepsy in full trisomy 18 can manifest early and is frequently associated with structural brain abnormalities.
- Structural brain malformations are linked to earlier onset, diverse seizure types, and often drug-resistant epilepsy.
- Neuroimaging plays a critical role in predicting epilepsy severity and guiding therapeutic strategies in children with full trisomy 18.
Abstract:
This paper reports on the clinical aspects, electroencephalographic (EEG) features, and neuroimaging findings in children with full trisomy 18 and associated epilepsy, and compares the evolution and outcome of their neurological phenotype. We retrospectively studied 18 patients (10 males and 8 females; aged 14 months to 9 years) with full trisomy 18 and epilepsy. All patients underwent comprehensive assessment including neuroimaging studies of the brain. We divided patients into two groups according to neuroimaging findings: (Group 1) 10 patients harboring structural brain malformations, and (Group 2) 8 patients with normal brain images. Group 1 had a significantly earlier age at seizure onset (2 months) compared to Group 2 (21 months). The seizure semiology was more severe in Group 1, who presented multiple seizure types, need for polytherapy (80% of patients), multifocal EEG abnormalities and poorer outcome (drug resistant epilepsy in 90% of patients) than Group 2 who presented a single seizure type, generalized or focal, and non-specific EEG pattern; these patients were successfully treated with monotherapy with good outcome. Imaging revealed a wide and complex spectrum of structural brain abnormalities including anomalies of the commissures, cerebellar malformations, cortical abnormalities, and various degrees of cortical atrophy. Epilepsy in full trisomy 18 may develop during the first months of life and can be associated with structural brain malformations. Patients with brain malformations can show multiple seizure types and can frequently be resistant to therapy with antiepileptic drugs. © 2016 Wiley Periodicals, Inc.
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