Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
Joyce Y Wu1, Jurriaan M Peters2, Monisha Goyal3
1Division of Pediatric Neurology, Mattel Children's Hospital at UCLA, Los Angeles, California.
Insights
Routine electroencephalography (EEG) can predict epilepsy in infants with tuberous sclerosis complex. Early EEG abnormalities accurately identified children who would develop seizures, with 100% positive predictive value.
Area of Science:
- Pediatric Neurology
- Epileptology
- Neurodevelopmental Disorders
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder associated with a high risk of epilepsy.
- Early identification and intervention are crucial for managing epilepsy in infants with TSC.
Purpose of the Study:
- To evaluate the clinical utility of routine electroencephalography (EEG) in predicting epilepsy onset in asymptomatic infants with TSC.
- To determine the predictive value of EEG abnormalities for seizure development in this population.
Main Methods:
- A multicenter prospective observational study enrolled infants younger than 7 months with TSC, who were seizure-free and not on antiepileptic drugs.
- Serial physical examinations and video electroencephalograms (EEGs) were performed throughout the study.
- Infants were followed until 24 months of age or seizure onset.
Main Results:
- Of 28 infants with completed EEG evaluations, 19 (67.8%) developed seizures.
- Epileptiform abnormalities on EEG preceded seizure onset by a median of 1.9 months in 73.6% of infants.
- All children with epileptiform discharges developed epilepsy (100% positive predictive value).
Conclusions:
- Serial routine EEGs are feasible for identifying infants with TSC at high risk for epilepsy.
- Epileptic spasms were the most common initial seizure type, followed by focal seizures.
- EEG is a valuable tool for predicting epilepsy in infants with TSC.
Background:
We assessed the clinical utility of routine electroencephalography (EEG) in the prediction of epilepsy onset in asymptomatic infants with tuberous sclerosis complex.
Methods:
This multicenter prospective observational study recruited infants younger than 7 months, seizure-free and on no antiepileptic drugs at enrollment, who all underwent serial physical examinations and video EEGs throughout the study. Parental education on seizure recognition was completed at the time of initial enrollment. Once seizure onset occurred, standard of care was applied, and subjects were followed up until 24 months.
Results:
Forty patients were enrolled, 28 older than 12 months with completed EEG evaluation at the time of this interim analysis. Of those, 19 (67.8%) developed seizures. Epileptic spasms occurred in 10 (52.6%), focal seizures in five (26.3%), generalized tonic-clonic seizure in one (5.3%), and a combination of epileptic spasms and focal seizures in three (15.7%). Fourteen infants (73.6%) had the first emergence of epileptiform abnormalities on EEG at an average age 4.2 months, preceding seizure onset by a median of 1.9 months. Hypsarrhythmia or modified hypsarrhythmia was not found in any infant before onset of epileptic spasms. All children with epileptiform discharges subsequently developed epilepsy (100% positive predictive value), and the negative predictive value for not developing epilepsy after a normal EEG was 64%.
Conclusions:
Serial routine EEGs in infants with tuberous sclerosis complex is a feasible strategy to identify individuals at high risk for epilepsy. The most frequent clinical presentation was epileptic spasms followed by focal seizures, and then a combination of both seizure types.
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