Cognitive and mental disorders often occur in patients with epilepsy and significantly reduce the quality of life of patients and their families. Approximately in 35 % of patients, despite treatment, various violations of intelligence, behavior, affective sphere of different degree of seve rity are preserved. In general, mental (affective, anxious and psychotic) disorders occur in epilepsy 2–3 times more often than in the general population. The most common is depression: the occurrence of depression and anxiety in epilepsy varies from 20 to 55 % (and more than 50 % of patients with refractory focal epilepsy, especially epilepsy of the temporal lobe of the brain). Children are a particularly vulnerable category of patients: in addition to persistent intellectual disabilities (mental retardation), they may have specific impairments in the form of mental and speech development delay, learning difficulties, attention deficit hyperactivity disorder.

Causes of cognitive and mental disorders in epilepsy can directly be the factor underlying epilepsy (genetic disease, structural brain defect, etc.), epileptic seizures, interictal epileptiform activity, side effects of antiepileptic drugs (AED). In many cases, a patient with epilepsy combines several of these causes, and it is often difficult to determine which one cause is leading. The contribution of specific factors is difficult to estimate, because different factors can have an independent different effect on cognitive impairment. Some of causes underlying cognitive and mental disorders in epilepsy can be influenced and thus reduce the existing risk. Such measures include early diagnosis and effective adequate treatment of epileptic encephalopathy, as early as possible control of seizures, justified appointment of AED in children with cognitive impairment of unknown etiology and frequent epileptiform discharges on the electroencephalogram, careful monitoring of cognitive side effects of AED and assessment of benefit–risk ratio, early surgical treatment of patients with resistance to therapy. Of course, the use of AED with the most favorable profile of influence on cognitive functions plays an important role in the treatment of epilepsy. In the treatment of epilepsy in children, it’s especially important to give preference to AED, which doesn’t negatively influence on the cognitive sphere. 

Background. Pathomorphosis of epilepsy is a process of the disease picture transformation due to environmental factors. It can be a result of natural evolution associated, for example, with genetic mutations, which makes it stable. It can also be caused by some artificial factors, such as pharmacotherapy. The article describes the most typical changes in the clinical picture of focal epilepsy induced by the main «engines of pathomorphosis» and affecting all periods of the disease: seizures, post-seizure and intra-seizure periods.

Objective: to increase the efficacy of treatment of focal epilepsy in adults taking into account specific features of the disease pathomorphosis.

Materials and methods. We enrolled 70 patients with focal epilepsy (mostly drug-resistant), who sought special medical assistance. The sample included 31 males (44 %) and 39 females (56 %) aged between 18 and 78 years.

Results. In 76 % of patients in the general group, new types of seizures appeared. Of these, in 85 % of cases a new types of seizure have been added to existing ones. In 15 % of cases, seizures of the same type were replaced by another type. In 87 % of patients, a change in the incidence of relapse in the history was detected. «Migration of the seizures» during the day was observed in 19 % of cases. Cognitive disorders of varying severity were observed in 48 % of patients. Anxiety-depressive disorders were detected in 42 % of cases. The remission period in history for 12 months with subsequent relapse was observed in 27 % of patients in the general group. Of these, in 88 % of cases, remission was the result of using antiepileptic drugs, and 53 % of relapses were caused by their unjustified cancellation. Aggravation of seizures was observed in 9 % of patients in the general group. During the study, 91 % of patients were drug-resistant, of whom 64 % had severe secondarily generalized seizures. Non-compliance was detected in 47 % of cases.

Conclusions. The variant of epilepsy pathomorphosis is determined by the complex of environmental factors. Antiepileptic pharmacotherapy is the most significant factor that requires further study, as well as other factors.

Objective: a retrospective assessment of short-term and long-term results of combined therapy with the inclusion of tetracosactide in comparison with other antiepileptic drugs (AED) in West syndrome.

Materials and methods. The research covered 150 children with confirmed West syndrome treated at Pediatic Clinical Hospital No. 8 (Kazan, Russia) in 2000–2015. The age of children at the time of research was 4.0–14.5 years. The risk ratio (RR) and their confidence intervals (CIs) were calculated using RevMan 5.0 Software (http://community.cochrane.org). Differences for p <0.05 were considered valid.

Results and discussion. The children with West syndrome were divided into 2 groups: 1st group included 90 children who received tetracosactide in combination with other AED, 2nd group included 60 children who received any variants of AED excluding tetracosactide. Children in both groups were comparable in age, sex, neurological status and severity of their disease. After 2 weeks from the start of treatment, there were more patients with complete control of seizures in 1st group (who used tetracosactide) than in 2nd group (without tetracosactide): 68 of 90 (76 %) patients in 1st group, 1 of 60 (2 %) patients – in 2nd group, RR 45.33, 95 % CI 6.47–317.71, p = 0.0001. After 2 months and 6 months the results were the following: 69 of 90 (77 %) patients in 1st group, 13 of 60 (22 %) patients in 2nd group, RR 3.54, 95 % CI 2.16–5.80, p <0.00001; 69 of 90 (77 %) patients in 1st group, 36 of 60 (60 %) patients in 2nd group; RR 1.28, 95 % CI 1.01–1.62, p = 0.04 respectively. Long-term results of treatment (favorable outcome – complete clinical remission during 3 years or more) did not differ significantly in both groups: 59 of 90 (66 %) patients in 1st group and 37 of 60 (61,6 %) patients in 2nd group. For long-term outcomes RR 1.12, 95 % CI 0.88–1.42, p = 0.37.

Conclusions. The effectiveness of tetracosactide (favorable outcome – complete absence of seizures) with short-term observation (not less than 6 months) is higher in comparison with other AED in the absence of difference in safety. The long-term results of West syndrome treatment (with observation for 3 years or more) in children who received tetracosactide and in children who received other AED are comparable. 

Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells (predominantly endothelial and vascular smooth muscle cells) with clinical manifestations affecting major organs including the central nervous system. Clinical onset of Fabry disease usually occurs in childhood, but many patients are diagnosed in adulthood. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 in the blood, urine and skin bioptates, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy may prevent complications of the disease.

The Aristaless-related homeobox (ARX) gene is a member of the paired-type homeodomain transcription factor family with critical roles in embryonic development, particularly in the developing brain. Mutations in ARX gene demonstrate striking intra- and interfamilial pleiotropy together with genetic heterogeneity and lead to a broad spectrum of diseases. They give rise to 4 key phenotypic features: a different types of brain malformation, abnormal genitalia, epilepsy and intellectual disability. Authors present 3 clinical cases: a girl with duplication on the short arm of X-chromosome (Xp11.22-p22.33), which include genes ARX and CDKL5; a girl and a boy with a missense mutation in ARX gene that have not been previously described (chrX:25031522C>A), causes the substitution of an amino acid in the 197 protein position (p.Gly197Val, NM_139058.2). All patients suffer from severe epilepsy, that is refractory to antiepileptic drugs, and all of them have different degrees of psychomotor delay. The patients with missense mutation also have movement disorders: stereotypic movements in the girl and choreo athetosis and dystonia in the boy. Electroencephalographic abnormalities have been identified in all patients, and there were not significant abnormalities on magnetic resonance imaging in all cases. The described cases broaden the clinical spectrum of mutations in ARX gene.