Epilepsy, an orphan disorder within the neurodevelopmental family

In 1997, the neurologist Rajendra Kale stated in the British Medical Journal ‘The history of epilepsy can be summarised as 4000 years of ignorance, superstition, and stigma followed by 100 years of knowledge, superstition, and stigma’. Epilepsy remains an orphan disorder, in so much that it remains ostracised from the family of neurodevelopmental disorders (NDDs). The NDDs primarily refer to intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), communication disorders, specific learning disorders and motor disorders such as tics/Tourette. The Diagnostic and Statistical Manuel of Mental Disorders fifth edition (DSM V) description emphasises that NDDs typically have a childhood onset, with manifestations in early period as developmental deficits. Epilepsy and epileptic encephalopathy are not listed under NDDs, but epilepsy in particular genetic epilepsy is a remarkably common comorbidity of NDDs. Significantly higher epilepsy prevalence is observed in ID (22.5%), ASD (20%) and ADHD (15%) than the population prevalence (0.8%).1–3 Prevalence data are not sufficient to explain the variation in care outcomes between people with NDD, with and without epilepsy. We conclude that this driven by ignorance, lack of evidence and indifference. We argue that genetic epilepsy deserves to be considered as a key member of the NDDs and that doing so will lead to improvements in holistic care. Seizures and epilepsy which have a known aetiology due to drugs, environmental toxins, infections, head trauma, stroke or dementia are not considered under the umbrella of NDDS in this paper. There is compelling epidemiological and biological evidence to propose that the primary pathology causing maldevelopment of/or damage to the brain1 produces both NDD and epilepsy.1 Nowhere, is this more prominent than in the understanding of the shared genetic causes of NDD with and without epilepsy.4 Single-gene epilepsies diagnosed before the age of 3 years, …