You are here

Article Text

Article menu
Download PDFPDF
Editorial
Epilepsy, an orphan disorder within the neurodevelopmental family
  1. Rohit Shankar1,2,
  2. Bhathika Perera3,
  3. Rhys H Thomas4,5
  1. 1 Intellectual Disability Neuropsychiatry, Cornwall Partnership NHS Foundation Trust, Truro, UK
  2. 2 Psychiatry and Neuroscience, University of Exeter Medical School, Truro, UK
  3. 3 Learning Disability Services, Barnet Enfield and Haringey Mental Health NHS Trust, London, UK
  4. 4 Department of Neuroscience, Newcastle University, Newcastle upon Tyne, UK
  5. 5 Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  1. Correspondence to Dr Rohit Shankar, Intellectual Disability Neuropsychiatry, Truro TR4 9LD, UK; rohit.shankar{at}nhs.net

https://doi.org/10.1136/jnnp-2020-324660

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    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.

    Shared origins

    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, …

    View Full Text

    Footnotes

    • Twitter @haritsa1

    • Contributors RS conceptualised the paper. All authors contributed to design and manuscript writing and authorised the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Disclaimer The views expressed in this article are those of the authors and not necessarily those of the Royal College of Psychiatrists.

    • Competing interests RS has received institutional and research support and/or personal fees from LivaNova, UCB, Eisai, Special Products, Bial and Desitin outside the submitted work. He is the medical lead for the App EpSMon and the SUDEP and Seizure Safety Checklist. He chaired the Royal College of Psychiatrists ID Faculty reports (referenced here), is on the NICE epilepsy review panel and been a panel member of various committees looking into improvement of epilepsy care nationally and internationally. RHT has received honoraria and meeting support from Arvelle, Bial, Eisai, GW Pharma, LivaNova, Novartis, Sanofi, UCB Pharma and Zogenix. He is on the ILAE British chapter executive and on various committees looking at improvement of epilepsy care nationally and internationally.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.