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Objectives. To study the clinical and electroencephalographic characteristics of early infantile epileptic encephalopathy (EIEE) type 14, due to mutations in the KCNT1 gene. Materials and methods. Over the period 2017–2019, three unrelated girls (M.V. aged three years three months, T.V. aged nine months, and M.U. aged five months) with the clinical picture of infantile epilepsy with migrating focal seizures (IEMFS) were investigated and mutations in the KCNT1 gene were identified. New-generation DNA sequencing (Inherited Epilepsy panel) was run on an Illumina NextSeq 500 platform (USA). Video EEG monitoring was with an Encephalan Video system based on an Encephalan-RM RM-EEG-19/26 instrument (Medikom MTD, Russia). Results and conclusions. M.V. showed a previously undescribed mutation in exon 12 of the KCNT1 gene (chr9:138656907C>T) with amino acid substitution Arg356Trp. T.V. had a known mutation in chromosome 9, 138651532G>A with amino acid substitution of glycine by serine as position 288, i.e., Gly288Ser (OMIM: 608167.0010). M.U. showed a previously undescribed heterozygous mutation in exon 15 of the KCTN1 gene (chr9:138660712A>G), leading to an amino acid substitution in position 480 (Asp480Gly). In M.V., the onset of EIEE was at age four months with hypomotor dialeptic and tonic versive seizures. Epilepsy in T.V. started at age 4.5 months with hypomotor seizures with ophthalmoclonia and facial hyperemia. In M.V., neonatal convulsions were seen with bilateral tonic-clinic seizures and cyanosis, and subsequent development of status epilepticus with alternating hemiconvulsions. All girls went on to develop seizures of multiregional genesis to the level of migrating status epilepticus with the typical electroclinical picture of IEMFS. Thus, these findings lead to the conclusion that the KCNT1 gene may be the main gene determining the development of EIEE.

Objectives. To assess the efficacy and safety of hopantenic acid (Pantogam) compared with placebo in the treatment of ADHD for four months in children aged 6–12 years during a prospective, multicenter, comparative, double-blind, placebo-controlled, parallel-group trial. Materials and methods. The study included 100 patients constituting the safety population (50 in the Pantogam group and 50 in the placebo group). A total of 89 patients completing the study in compliance with the protocol entered the efficacy evaluation population: 45 in the Pantogam group (group 1) and 44 in the placebo group (group 2). Pantogam was given as tablets containing 250 mg at the pediatric therapeutic dose of 30 mg/kg, divided into two split doses, for four months. Assessment of patients’ statements at follow-up addressed the total points scores on the DSM-IV ADHD, the CGI-S Clinical Global Impression scale, the WFIRS-P functional impairments scale, and the results of a correction test (the Toulouse–Pieron test). Results and conclusions. The efficacy of Pantogam in ADHD in children aged 6–12 years as compared with placebo showed a marked tendency to an increase in the proportion of patients with improvements (decreases in total points scores on the DSM-IV ADHD scale by more than 25%) by the ends of the third and fourth months of treatment: treatment responses were achieved in 66.7% and 68.9%, respectively, compared with 52.3% and 61.4% in the placebo group. Pantogam therapy also produced a decrease in disease severity from the placebo level on the CGI-S scale. At four months of Pantogam treatment, there were decreases in the severity of functional impairments on sections 4 and 6 of the WFIRES-P “Family,” “School and learning,” “Child’s self-concept,” and “Risky activities” scales. Pantogam also improved the maintenance of attention in children with ADHD, as measured using the Toulouse–Pieron test (quality and rate of performance) as compared with placebo. Treatment with Pantogam at a mean daily dose of 30 mg/kg for four months demonstrated a favorable safety profile, no different from that of placebo.

Study aim. To investigate the dynamics of measures of behavior, attention, and memory during treatment with Noofen (250-mg capsules) in children with attention deficit hyperactivity disorder (ADHD). Materials and methods. A total of 50 patients taking part in an open study were divided into two groups of 25 patients: patients of group 1 received Noofen while patients of group 2 (controls) received only low doses of multivitamins. Treatment lasted one month. Noofen was given at doses of 15–20 mg/kg (500–750 mg) per day using 250-mg capsules, as two or three doses. Results and conclusions. Neuropsychological test results at the end of one month of treatment demonstrated improvements in cognitive functions, including measures of self-control, sustained, focused, and distributed attention, and auditory verbal memory. It is suggested that the initial positive changes may provide a base for attaining more significant clinical outcomes with longer-lasting treatment.

A total of 722 patients (374 men and 348 women, aged from three months to 57 years) were treated with topiramate during the period 2002–2012. Epilepsy was diagnosed and antiepileptic treatment was evaluated using follow-up video-EEG monitoring. Topiramate was effective in 465 patients (64.4%), the efficacy of monotherapy (72.2%) being greater than that of combined therapy (61.9%). Low efficacy was noted in 198 patients (27.4%). Aggravation was seen in 59 cases (8.2%). Compliance (remaining on treatment for more than one year) was 60.79%. High efficacy in children aged less than one year was seen in 55.2% of cases, while low efficacy was seen in 34.5% and aggravation in 10.3%; among children aged 1–3 years, high efficacy was seen in 54.8% and low efficacy was seen in 31.8%, with aggravation in 13.4%; in children aged over three years, efficacy was high in 67.3% and low in 26.2%, with aggravation in 6.5%; in the adult population aged over 18 years, the agent was effective in 82.1% of patients, with low efficacy in 16.6%, and aggravation in just one patient. Topiramate demonstrated high efficacy in the treatment of idiopathic generalized forms of epilepsy (IGE) without absences, as well as in symptomatic/cryptogenic focal forms of epilepsy. Increases in patients’ age were associated with increases in the efficacy of topiramate, while the risk of aggravation decreased significantly.

A total of 32 children aged 6–12 years with attention deficit hyperactivity disorder (ADHD) were monitored during prolonged (6–8 months) treatment with Pantogam (homopantothenic acid) at daily doses of 500–1000 mg. Treatment results were assessed using the DSM-IV core ADHD symptom scales and the WFIRS-P (parental) scale every two months. Decreases in core symptoms on the DSM-IV core ADHD symptom scale were seen at two months of treatment. Significant changes on the WFIRS-P scale took longer: improvements in self-concept, socialization, and social activity were seen at four months and in behavior and schoolwork, basic life skills, along with decreases in risk-associated behavior, at six months. Thus, in contrast to regression of core ADHD symptoms, overcoming impairments in social-psychological adaptation required longer treatment periods.

The “Strengths and Difficulties” questionnaire was put to the parents and teachers of 342 schoolchildren aged 7–11 years using a non-randomized method. Questionnaire data from parents and teachers on children with ADHD and their peers were then compared. The spectrum of impairments arising in ADHD was found not to be restricted to the main symptoms of ADHD. Questionnaires completed by both parents and teachers showed that emotional impairments, behavioral problems, difficulties interacting with peers, and underdevelopment of social behavior were significantly more severe in children with ADHD as compared with healthy children. These results demonstrate the need for treatment to extend beyond addressing the basic symptoms to consider more general measures of patients’ quality of life.

The objective of the study was to compare the efficacy and tolerability of once-daily atomoxetine (or =1.8 mg/(kg day) with those of placebo in children and adolescents (aged 6-16 years) with attention-deficit/hyperactivity disorder [ADHD (DSM-IV)]. This randomized, placebo-controlled, double-blind trial was conducted in Russia. The primary efficacy measure was baseline-to-end point changes in Attention-Deficit/Hyperactivity Disorder Rating Scale-IV-Parent Version: Investigator-Administered and Scored (ADHDRS-IV-Parent:Inv) total score. Tolerability measures included treatment-emergent signs and symptoms (TESS), laboratory values and weight. Compared with patients in the placebo group (n = 33), patients treated with atomoxetine (n = 72) with a mean final dose of 1.4 mg/kg showed significantly greater improvement in ADHDRS-IV-Parent:Inv total score (least-squares mean: atomoxetine, -15.8; placebo, -11.4; p = 0.013). The most common TESS in the atomoxetine group included anorexia [atomoxetine, n = 13 (18.1%); placebo, n = 2 (6.1%)], somnolence, n = 11 versus n = 3 (15.3% vs. 9.1%, respectively), abdominal pain n = 9 versus n = 1 (12.5% vs. 3.0%, respectively) and nausea, n = 8 versus n = 1 (11.1% vs. 3.0%, respectively). Seven patients in the atomoxetine group and two in the placebo group experienced clinically important weight loss during the study (or =7% from baseline; mean change, kg: atomoxetine, -0.6; placebo, 0.1; p = 0.032). Atomoxetine is efficacious in improving ADHD symptoms in children and adolescents. Atomoxetine treatment may be associated with a numerically higher incidence of anorexia, somnolence, abdominal pain and nausea, as well as statistically greater losses in body weight.