A study on the clinical profile of drug-resistant epilepsy in children

Epilepsy is a common neurologic disorder with 20-40% remaining drug resistant. Understanding the types and spectrum of drug resistant epilepsy will facilitate targeted investigations and therapy.
Objectives: Study on the clinico-aetiological features of drug resistant epilepsy (DRE) in a cohort of children in a tertiary neurology care facility.
Methods: A descriptive cross-sectional study was conducted at Lady Ridgeway Children’s Hospital. Children aged 1 month to 16 years with DRE defined according to the International League Against Epilepsy (ILAE).
Results: The total number of children evaluated was 60 with a mean age of 8.6 years (standard deviation (SD) 4.4). The majority were in the 6-12 year category. The mean age of epilepsy onset was 2.2 years (SD 2.7). However, by age categories, the largest group (40.0%) had onset between 0-6 months. Regarding aetiology, according to the ILAE framework, the majority remained unknown (46.7%). Structural (38.3%), genetic (5%), infections (3.3%), immune (5.0%) and metabolic (1.7%) encompassed the balance.
The commonest epilepsy type across all age groups was focal epilepsy (56.7%). An epilepsy syndrome was diagnosed in 24 (48.0%); Infantile epileptic spasm syndrome was the commonest.  The majority were developing normally at seizure onset (62.0%) and of them, 14 subsequently slowed or regressed in development. Of those who presented in status epilepticus as a first presentation (48.3%), close to one third (31.6%) suffered from a neurodevelopmental disorder.
All these children were trialled on multiple anti-seizure medications (ASMs). Some received other modalities of treatment such as immune therapy (30.0%), ketogenic diet (8.3%) and surgery (15.0%).
Significance: The majority of DRE in childhood began in infancy and the majority in this low resource setting remained without identifiable aetiology based on investigations offered. Detailed genetic testing and metabolic screening may aid in establishing the aetiology further.