Background. Real world data help to provide more information on the effects and tolerability of therapy. However, data on the use of perampanel in Russian population of children remain limited.

Aim. To conduct a retrospective analysis of perampanel efficacy and tolerability in children and adolescents with epilepsy in real clinical practice.

Materials and methods. A total of 106 children aged 4–18 years receiving perampanel as part of combination therapy for epilepsy were observed at 18 centers. Seizure frequency at 1–3, after 6 and 12 months of treatment, presence and type of adverse events (AEs) were analyzed. The main assessed efficacy parameters were seizure control, significant (≥50 %) decrease in seizure frequency. All other outcomes (<50 % decrease, no change or increased seizure frequency) were considered to be no effect. The assessed safety parameters were the percentage of patients with or without AEs and the percentage of perampanel withdrawals due to AEs.

Results. We defined 3 age groups for comparison: children 4–6, 7–11 and 12–17 years old. Perampanel efficacy was 69 % (seizure control – 23.6 %, ≥50 % decrease in seizure frequency – 45.3 %). The mean duration of the effect was 7.3 ± 4.1 months. No significant difference in efficacy between age groups was found. However, some greater efficacy of perampanel was noted in adolescents: absence of effect in the form of remission or significant decrease in seizures frequency was noted only in 25.5 %, with 40 % in children 4–11 years old. Among those with inefficacy, 3.8 % reported seizure aggravation. AEs occurred in only 23 % of patients, with the least frequent occurrence in adolescents (11.8 %) and the most frequent in children aged 7–11 years (40 %). The most frequent AEs was sluggishness and/or drowsiness. Discontinuation of perampanel due to AEs was required in 7.6 %.

Conclusion. Perampanel has demonstrated high efficacy and good tolerability in real clinical practice among children from 4 years of age and adolescents with partial (focal) and secondary generalized seizures. The AEs that developed were not serious and very rarely led to withdrawal of the therapy. The results are comparable to those of phase III studies and previous real-world data. The usage of perampanel in children with primary generalized seizures should be further investigated.

The authors of the article substantiate the high significance and prognostic value of transient neurological symptoms in newborns. The study showed a greater variety and a lower rate of symptoms regression in the part of neurological disorders during physiological childbirth in the second position of the fetus. There are data on a higher frequency of some variants of torticollis in the second position of the fetus, cephalohematoma during childbirth in the second position was also significantly more often found. The findings are important for the prevention of neurological disorders and revision of some aspects of obstetric tactics.

Developmental dysphasia is a speech disorder with normal hearing and intelligence, which develops against the background of organic brain damage in the period up to 3 years of life. In addition to speech disorders in dysphasia, motor and coordinator, sensory (disturbances in sensitivity and perception), and psychopathological manifestations can be noted. Diagnosis of speech disorders is very difficult, requires the exclusion of hearing loss and mental illness. After a successful diagnosis, speech therapy correction, behavioral therapy and developmental sessions with a psychologist are necessary. In some cases, neurotrophic drugs are prescribed. This article analyzes our own data on the use of the drug “Cogitum” in 140 children in comparison with the control group (n = 40), who had the same classes as in the main group, but without the use of Cogitum. Improvement in group 1 was shown.

1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.

Objective: to study the clinical and electroencephalographic picture of the disease.

We have analyzed 3 cases (male patients from 2 to 6 years old), including anamnesis of life and disease, electroencephalography data in dynamics and genetic analysis data.

All three patients are united by a combination of epilepsy, mental retardation and cerebral palsy-like movement disorders. The epilepsy manifestations varied from severe with absolutely pharmacoresistant epileptic spasms (cases 1 and 2) to mild course with febrile seizures only (case 3). This is probably due to the presence of a shorter mutation in patient 3. Cases 1 and 2 had epileptic encephalopathy, epilepsy with continuing epileptiform discharges on the EEG and a gross delay in speech and mental development. These patients could not speak and not understand the speech addressed, do not follow instructions. Patient 3’ self-care and play activities are developed by age, speech understanding is fully formed, but there is a complete absence of expressive speech.

1p36 deletion syndrome is a developmental and epileptic encephalopathy.  

Recently, there is a growing number of publications about the complicated course of the COVID-19 in children. The literature describes only a few cases of acute cerebrovascular diseases. In the case described in this paper, an 11‑year-old boy presented with COVID-19 complicated by an ischemic stroke. Moderate ischemic stroke (pedNIHSS 14 points) occurred on the 7th day after infection with the SARS-CoV-2 and the background of the multisystem inflammatory syndrome. It has started with the left hemiplegia, hemianesthesia, central-type facial moderate palsy, and pseudobulbar palsy. Focal brain ischemia in the right hemisphere brain and occlusion of the right middle cerebral artery was confirmed by neuroimaging data. The treatment observed regression of neurological symptoms: there were minimal movements in his left arm and leg, facial muscles, also improved gulping and speech. After 1.5 months, the stroke was provided clinical examination: no markers predisposing to hypercoagulability or a prothrombotic state, as well as markers of systemic diseases. According to neuroimaging data, was occurred recanalization of occluded middle cerebral artery, was postischemic changes. This case shows the possibility of stroke against the background of COVID-19 in children without somatic problems and makes the doctor more vigilant during the treatment of COVID-19.

The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.

Perinatal stroke and, in particular, intracranial hemorrhage in fetus refer to topical issues of modern perinatology and perinatal neurology because of diagnostic challenges and uncertain prognosis. The severity of outcome in intracranial hemorrhage in fetus depends on its localization and affected area. We report a case of fetal stroke in а newborn. In the patient, initial minimal clinical signs were accompanied by pathological changes detected by visual diagnostic methods and electroencephalography. This makes prognosis more challenging and requires the vigilance of neonatologists and pediatric neurologists.