Genetic factors and the risk of drug-resistant epilepsy in young children with epilepsy and neurodevelopment disability

Abstract

Drug-resistant epilepsy (DRE) affects 7% to 20% of children with epilepsy. Although some risk factors for DRE have been identified, the results have not been consistent. Moreover, data regarding the risk factors for epilepsy and its seizure outcome in the first 2 years of life are limited. We analyzed data for children aged 0 to 2 years with epilepsy and neurodevelopmental disability from January, 2013, through December, 2017. These patients were followed up to compare the risk of DRE in patients with genetic defect (genetic group) with that without genetic defect (nongenetic group). Additionally, we conducted a meta-analysis to identify the pooled prevalence of genetic factors in children with DRE. A total of 96 patients were enrolled. A total of 68 patients were enrolled in the nongenetic group, whereas 28 patients were enrolled in the genetic group. The overall DRE risk in the genetic group was 6.5 times (95% confidence interval [CI], 2.15–19.6; p = 0.03) higher than that in the nongenetic group. Separately, a total of 1308 DRE patients were participated in the meta-analysis. The pooled prevalence of these patients with genetic factors was 22.8% (95% CI 17.4–29.3). The genetic defect plays a crucial role in the development of DRE in younger children with epilepsy and neurodevelopmental disability. The results can serve as a reference for further studies of epilepsy panel design and may also assist in the development of improved treatments and prevention strategies for DRE.

Predictors of Intractability in Patients with Symptomatic Epilepsy

“…In this retrospective study in which we investigated factors for intractable epilepsy, the most important risk factor was found as status epilepticus; however, the age of onset of seizures, presence of mental retardation, presence of a neurologic abnormality, epileptic activity in EEG and presence of neuroradiologic abnormality, kinship, epilepsy history in the family, presence of neonatal seizure, febrile convulsion, and seizure incidence before starting drugs were not found to be significant. With proper and sufficient treatment, remission can be achieved in 60-70% of childhood epilepsy cases, and antiepileptic drug use can be terminated in approximately 50% (8)(9)(10)(11). Intractable epilepsy rate has been found as 10% in a study by Berg and colleagues (12).…”

Use of cannabidiol in the treatment of drug-refractory epilepsy in children and young adults: A systematic review

“…[ 6 ] Considering that treatment-resistant epilepsy may impact pediatric populations at a rate ranging from 7% to 20%. [ 7 ] Conversely, the likelihood of refractoriness increases in the presence of epileptic syndromes such as Lennox–Gastaut, Dravet syndrome, and tuberous sclerosis, as well as other underlying etiologies. These conditions might exhibit an unfavorable clinical outcome for patients due to their severity, early onset, and slow progression.…”