Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

Area of Science:

• Neurology
• Genetics
• Gerontology

Background:

• Individuals with Down syndrome (DS) exhibit an elevated lifetime risk for epilepsy, with a notable increase observed after age 40.
• Improved healthcare has led to a growing population of older adults with DS, consequently increasing epilepsy prevalence in this demographic.
• Epileptic seizures in individuals with DS are frequently underdiagnosed and inadequately managed.

Purpose of the Study:

• To review current knowledge on the clinical and electrophysiological features of epilepsy in individuals with Down syndrome.
• To focus on late-onset myoclonic epilepsy (LOMEDS), a specific epilepsy syndrome associated with Alzheimer's disease (AD) in DS.
• To highlight diagnostic and treatment strategies for epilepsy in the DS population, emphasizing LOMEDS.

Main Methods:

• Literature review synthesizing existing research on epilepsy in Down syndrome.
• Analysis of clinical presentations and electrophysiological characteristics of seizures.
• Examination of the association between epilepsy, Alzheimer's disease, and Down syndrome.

Main Results:

• Late-onset epilepsy in DS is strongly linked to Alzheimer's disease (AD), with over 50% of DS patients with AD dementia developing epilepsy.
• A specific form, late-onset myoclonic epilepsy (LOMEDS), presents with generalized myoclonic seizures.
• LOMEDS negatively impacts quality of life, cognitive/functional outcomes, and mortality in patients with AD dementia.

Conclusions:

• Epilepsy, particularly LOMEDS, is a significant comorbidity in aging adults with Down syndrome, often associated with Alzheimer's disease.
• Increased awareness among families, caregivers, and clinicians is vital for timely diagnosis and effective treatment of epilepsy in DS.
• Further research and clinical attention are needed to improve management and outcomes for individuals with DS experiencing epilepsy.