Epilepsy and cerebral palsy (CP) are among the most frequently co-occurring neurological disorders and are characterized by high comorbidity. This article provides a brief overview of the issue and presents clinical cases of patients with CP combined with focal epilepsy of childhood with structural brain changes and benign epileptiform discharges of childhood on electroencephalogram (FECSBC-BEDC) and infantile epileptic spasms syndrome. Vigabatrin is a first-line drug for the treatment of infantile epileptic spasms syndrome and can also be successfully used for focal epilepsy in patients with CP. Due to its GABA-mediated mechanism of action, vigabatrin has demonstrated the ability to reduce symptoms of spasticity in dystonia. Although the FECSBC-BEDC syndrome has been described in patients with CP, it has not yet been assigned a taxonomic position in the International Classification of Epilepsies and Epileptic Syndromes. Sulthiame has demonstrated efficacy and good tolerability in patients with FECSBC-BEDC.
Background. Management of pediatric epilepsy remains a critical challenge due to the insufficient efficacy of first-line therapies, adverse effects, and constraints within current clinical guidelines. Aim. To evaluate the efficacy of zonisamide and its impact on the frequency, severity, and types of seizures after 3 and 6 months of therapy. Additionally, to assess the safety and tolerability of zonisamide treatment, the incidence and nature of adverse events (AE), and its impact on body weight and cognitive functions using the pediatric EpiTrack test after 3 and 6 months of therapy. Materials and methods. A multicenter study was conducted involving 35 physicians from various regions of the Russian Federation. The study enrolled 115 patients aged 6 to 17 years inclusive (mean age: 9.95 years), including 52 % boys, with a confirmed diagnosis of focal epilepsy. Zonisamide (Zonegran, JSC “Firma EUROSERVICE”, Russia) was prescribed according to the manufacturer’s instructions as adjunctive therapy for focal epilepsy with or without secondary generalization. Epileptic syndromes for which zonisamide was initiated included: self-limited focal epilepsies of childhood, structural focal epilepsies, structural variant of Lennox–Gastaut syndrome, and genetic epilepsies. Individual patients could exhibit a combination of multiple focal seizure types. Zonisamide was administered as add-on therapy at a mean daily dose of 4.6 mg / kg. After 3 months, 16 patients dropped out of the study due to non-compliance with the study protocol. During these first 3 months, no patients discontinued the study due to zonisamide withdrawal. A total of 99 patients continued the study. After the subsequent 3 months (i.e., 6 months from the baseline), an additional 5 patients dropped out; thus, 94 patients completed the study. Among these 5 remaining dropouts, only 2 patients discontinued due to zonisamide withdrawal, while the others dropped out due to protocol violations. Consequently, the baseline cohort consisted of 115 patients, with a total of 21 patients dropping out (19 due to protocol violations and 2 due to zonisamide discontinuation). Results. Efficacy of zonisamide treatment was observed in 83 out of 94 patients. The highest rate of complete seizure control was recorded in the early adjunctive therapy group, where zonisamide was prescribed as the second add-on medication. Five patients developed AE that required treatment discontinuation. In the remaining patients, AE occurred during the titration period and were deemed acceptable (decreased body weight and appetite in overweight patients). Concurrently, a reduction in migraine frequency was reported in one patient, a decrease in tic severity in one patient, and an improvement in hyperactive behavior. Conclusion. Zonisamide demonstrates high efficacy and favorable tolerability. The incidence of AE is comparable to that of other modern antiepileptic drugs.
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
This article presents a review of scientific publications dedicated to the role of genetic, neurobiological, psychological, and environmental factors in the etiology and pathogenesis of dyslexia. The paper outlines the results of neuropsychological and neurophysiological studies demonstrating impairment of certain higher mental functions in dyslexia, as well as the results of neuroimaging studies that have identified structural features of the brain characteristic of this disorder. Current understanding of the main neurocognitive deficits observed in dyslexia is described: impaired working memory, decreased information processing speed, and insufficient automation of new skills. The principles of dyslexia treatment and the potential use of Cereton in the combination therapy of this pathology are also discussed.
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, autosomal recessive neurodegenerative disorder caused by mutations in the TPP1 gene, which lead to a decrease or complete loss of lysosomal tripeptidyl peptidase 1 enzyme activity. The classic form of CLN2 disease typically manifests between the ages of 2 and 4 years. Over time, there is a rapid and predictably severe progression of intellectual and motor deficits, loss of visual acuity, and an increased frequency of epileptic seizures refractory to antiepileptic therapy. In its natural course, the classic form of CLN2 disease leads to severe disability by 6–7 years of age and death on average during the 10th year of life. Currently, pathogenetic enzyme replacement therapy has been developed only for CLN2 disease, utilizing the drug cerliponase alfa. In Russia, children with CLN2 disease are provided with cerliponase alfa through funding from the “Circle of Kindness”, a state fund supporting children with severe life-threatening and chronic diseases, including rare (orphan) conditions. Cerliponase alfa cannot cross the blood-brain barrier and must be administered directly into the cerebrospinal fluid via intracerebroventricular (ICV) infusion through a surgically implanted reservoir and ventricular catheter. Infectious complications can result in missed ICV infusions, which, in turn, may adversely affect the efficacy of enzyme replacement therapy. To reduce the risk of infectious complications, strict adherence to aseptic rules is essential during patient preparation, as well as during and after the ICV infusion. These practical guidelines for performing ICV infusions of enzyme replacement therapy in patients with CLN2 disease have been developed to implement measures in clinical practice aimed at minimizing the risk of infectious complications and damage to ICV infusion devices.
