Abstract

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

Highlights

  • Down syndrome (DS), caused by an extra chromosome 21, is the most frequent cause of intellectual disability of genetic origin [1,2,3,4,5,6]

  • late onset myoclonic epilepsy in DS (LOMEDS) is a generalized myoclonic epilepsy with an important burden in patients and their families. It has an impact on the quality of life and on mortality and might have worse cognitive and functional outcomes in patients with Alzheimer’s disease (AD) dementia

  • Those papers dealing with epileptic seizures and epilepsy in Down syndrome are included for this review

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Summary

Introduction

Down syndrome (DS), caused by an extra chromosome 21, is the most frequent cause of intellectual disability of genetic origin [1,2,3,4,5,6]. The first peak/mode of incidence occurs in the early childhood (0–2 years) of life and the second in the 6th decade [9,17,26,27]. This latter peak incidence is closely related to symptomatic AD [2,17,28,29,30,31,32]. LOMEDS is a generalized myoclonic epilepsy with an important burden in patients and their families It has an impact on the quality of life and on mortality and might have worse cognitive and functional outcomes in patients with AD dementia

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