Epilepsy in patients with Down syndrome (literature review and clinical cases)

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Abstract

An overview of the literature and clinical cases of epilepsy in Down syndrome (DS) is presented. Epilepsy in DS has a bimodal distribution with two peaks: before 5 years of age and after 40 years. In childhood, the most common epileptic syndrome is infantile epileptic spasms syndrome. First-line treatment includes vigabatrin and corticosteroids.

The second peak of epilepsy occurs after the age of 40 and is associated with the coexistence of epilepsy and Alzheimer’s disease, which is known as late-onset myoclonic epilepsy in DS, the seizure semiology of which is similar to that of juvenile myoclonic epilepsy.

Clinical cases of patients with infantile epileptic spasms syndrome and DS successfully treated with vigabatrin are presented. Comorbidities in DS include a high prevalence of obstructive sleep apnea syndrome, increased carbonic anhydrase type 2 activity, and the presence of myoclonic seizures similar to those in juvenile myoclonic epilepsy. These features support the use of sultiame as a pathogenetically justified drug for the treatment of epilepsy in patients with AD.

A clinical case of a patient with DS is presented, in whom sultiame demonstrated high efficacy and good tolerability, as well as a positive impact on development and behavior

About the authors

Mariya Yu. Bobylova

Svt. Luka’s Institute of Child and Adult Neurology and Epilepsy

Author for correspondence.
Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-6125-0618
Russian Federation, 9 Akademika Anokhina St., Moscow 119571

S. G. Burd

Federal Center of Brain and Neurotechnologies, Federal Biomedical Agency of Russia; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0003-0804-7076

Department of Neurology, Neurosurgery and Medical Genetics, Institute of Neuroscience and Neurotechnology

Russian Federation, Build. 10, 1 Ostrovityanova St., Moscow 117513; Build. 8, 1 Ostrovityanova St., Moscow 119571

T. R. Tomenko

Ural State Medical University, Ministry of Health of Russia; European Medical Center “UGMK-Health”; Ural Federal University named after the First President of Russia B.N. Yeltsin

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0002-0652-1996
Russian Federation, 3 Repina St., Yekaterinburg 620028; 113 Sheynkmana St., Yekaterinburg 620144; 19 Mira St., Yekaterinburg 620002

O. A. Rakhmanina

Tyumen State Medical University, Ministry of Health of Russia

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-9218-2531
Russian Federation, 54 Odesskaya St., Tyumen 625023

Z. K. Gorchkhanova

LLC “Medical Center “Hippocrates 21st Century”

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-9286-7805
Russian Federation, 8 13-ya liniya St., Rostov-on-Don 344019

M. A. Yamin

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-6482-3792

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery

Russian Federation, 2 Taldomskaya St., Moscow 125412

A. V. Markin

Svt. Luka’s Institute of Child and Adult Neurology and Epilepsy

Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-9510-4918
Russian Federation, 9 Akademika Anokhina St., Moscow 119571

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