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Russian Journal of Child Neurology

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Vol 20, No 2 (2025)
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AUTHENTIC ARTICLES

12-22 5
Abstract

Background. Moderately effective therapy (MET) is recommended for the treatment of multiple sclerosis (MS) with childhood onset, except when the course is highly active or primary progressive, then highly effective therapy (HET) is used. The results of randomized controlled trials as well as cohort observational studies have shown advantages of HET over MET.

Aim. To evaluate the efficacy of first-line disease-modifying drugs in MS in children and compare it with the efficacy of second-line disease-modifying drugs in MS.

Materials and methods. On the basis of the paediatric neurology department of the M.F. Vladimirskiy Moscow State Medical Institute a cohort study was conducted that included 50 patients with MS who had experienced their first symptoms during childhood. These patients were receiving disease-modifying therapy for a period of more than one year, and had undergone a total of 87 attempts at therapy. A total of 67 courses of MET (interferon, glatiramer acetate, teriflunomide) and 20 courses of HET (fingolimod, ocrelizumab, rituximab before 18 years of age; natalizumab, ocrelizumab and alemtuzumab after 18 years of age) were administered.

Results. The efficacy of MET was 16 % (11 cases out of 67) and of HET was 80 % (16 cases out of 20). In 30 % of cases, the decision to switch from the MET course to the HET course was taken. Significant adverse events occurred in 19 % of cases in the MET group, and in 5 % of cases in the HET group. The frequency of MET drug cancellation was 49 %, while the frequency of HET cancellation was 15 %.

Conclusion. In the present study, the efficacy of MET in MS with a childhood onset was found to be 5 times lower than that of HET. Adverse events were observed to occur with a frequency four times higher in the context of MET than in the context of HET. The frequency of treatment discontinuation was found to be more than three times higher in cases of MET than in cases of HET. The results demonstrated that HET was associated with enhanced tolerability and adherence to treatment. Furthermore, emphasis was placed on the underutilisation of HET in children, with the recommendation that its utilisation be expanded at the pediatric onset MS.

23-33 4
Abstract

Cerebral palsy (CP) is often combined with epilepsy and epileptiform activity on the electroencephalogram. Uncontrolled epileptic seizures in CP limit rehabilitation opportunities, which aggravates motor and cognitive deficits. The main epileptic syndromes in children with CP are focal epilepsy with structural changes in the brain and benign epileptiform patterns of childhood on the electroencephalogram and structural focal epilepsy; the main types of seizures are focal motor, bilateral tonic-clonic, febrile-provoked seizures may also be observed. In CP, seizures often have a status course, can last more than 30 minutes and are stopped only in the intensive care unit. One patient may have several types of seizures, including epileptic status. Even in the absence of seizures, changes in the electroencephalogram are detected both in the form of regional epileptiform activity, often in the structure of regional prolonged slowing, and in the form of benign epileptiform patterns of childhood. Valproates, topiramate, levetiracetam, zonisamide, lamotrigine, ethosuximide, perampanel, vigabatrin, sultiame, rufinamide are recommended in the treatment of epilepsy in CP. We present a literature review and analysis of our own data on the use of zonisamide in patients with epilepsy and CP aged 6 to 17 years.

34-39 4
Abstract

Background. The prevalence of clinically significant depression among adolescents cured of cancer reaches 15–25 %, which is 2–3 times higher than the rates in the general population of minors. This fact dictates the need to study depressive pathology in these patients.

Aim. To clarify the features of therapy for depressive disorders in patients in remission from cancer.

Materials and methods. Adolescents (50 patients aged 15 to 19 years, 28 girls and 22 boys) with oncohematological pathology (leukemia, lymphoma) were studied using a clinical and psychopathological method. By the time of examination, all patients belonged to the category of those cured of malignant disease, being in a state of remission lasting from 2 to 10 years.

Results and conclusion. The appeal to a psychiatrist was associated with complaints of depressed mood. Depending on the severity of the depressive state and the leading psychopathological syndrome, psychotherapeutic and psychopharmacological methods of treatment were used. It was concluded that for successful management of depressive manifestations it is necessary not only to use medical and non-medical methods, but also coordinated interprofessional interaction of specialists of different profiles.

REVIEWS AND LECTURES

40-51 5
Abstract

Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease that manifests in early childhood and progresses with age, leading to loss of mobility and respiratory and cardiac failure. The globally recognized gold standard for DMD treatment is corticosteroids. However, until recently, only deflazacort (Emflaza) had received approval from the U.S. Food and Drug Administration (FDA) for the indication of DMD. All other drugs in this group were used off-label. At the end of 2023, the FDA, followed by the European Medicines Agency (EMA), registered another drug from the corticosteroid group – vamorolone (Agamree). In 2024, vamorolone received approval in the United Kingdom and China. Thus, all leading global regulators currently recognize vamorolone as a corticosteroids for the treatment of DMD.

52-60 4
Abstract

Balo’s concentric sclerosis (BCS) is a rare demyelinating disorder. The article analyzes six BCS cases diagnosed using magnetic resonance imaging, clinical data, and cerebrospinal fluid studies. The goal is to differentiate BCS from multiple sclerosis (MS), assess prognosis, and evaluate therapy. Patients exhibited concentric demyelination lesions. In two cases, oligoclonal antibodies were absent (type 1, typical for BCS), while others showed type 2 (more common in MS). Treatment included corticosteroids, plasmapheresis, and anti-B-cell therapy. Disease course varied: some patients had a monophasic course, while others experienced relapsing symptoms resembling pseudotumoral MS. Magnetic resonance imaging showed lesion reduction, but some patients retained neurological deficits.

BCS may be a distinct nosological entity but requires careful differentiation from MS. Early imaging and cerebrospinal fluid analysis are crucial for diagnosis. MS-like therapy is effective, but further research is needed.

61-70 5
Abstract

In modern conditions, the period of systematic educational process has a great influence on somatic and neuropsychiatric health of children, and the action of various, including intra-school, medical and social factors, can lead to the emergence of psychosomatic disorders. If a child does not cope with the requirements of the new social environment, he develops various somatic and psychoneurological symptoms, we can talk about a violation of the adaptation processes and the formation of school maladjustment – a socio-psychological-pedagogical phenomenon resulting from a violation of the adaptive mechanism of personality socialization. In the development of school maladjustment, a large role belongs to the characteristics of the school environment and the child’s personality with an emphasis on his upbringing, interpersonal and intra-family relationships; the importance of the previous background is emphasized. Among the components of school maladjustment, cognitive, personal (emotional-evaluative), behavioral and physiological are currently considered. Much attention is paid to school anxiety. It is noted that school maladjustment in children can often be caused by learning difficulties, among the etiological factors of which special attention is paid to cognitive impairments, assessed as a subjectively and objectively detectable decrease in cognitive functions in comparison with an individual or average age educational level. It is shown that along with various methods of psychological, pedagogical and speech therapy correction, drug therapy with nootropic drugs occupies a significant place in the treatment of cognitive impairment in children. The high efficiency of choline alfoscerate (Cereton) in the treatment of cognitive impairment in children is noted. The main principles of correction of school maladjustment are presented, which have a complex and interdisciplinary nature. In general, it is noted that at present, school maladjustment remains an urgent problem, the solution of which is interdisciplinary in nature and is possible with the interaction of health workers, teachers, parents and children.

CLINICAL OBSERVATIONS

71-77 3
Abstract

Mutations in the HECW2 gene cause severe neurodevelopmental disorders, including epileptic encephalopathy, psychomotor delay, and drug-resistant seizures. The article presents a clinical case of a 2-year-old girl with epilepsy onset at 3 months, developmental regression, hypotonia, and dysmorphic features. Genetic testing revealed a heterozygous missense mutation in the HECW2 gene (c.3988C>T, p.Arg1330Trp). Electroencephalogram showed generalized, multifocal epileptiform discharges, and magnetic resonance imaging revealed external hydrocephalus. In treatment against the background of the ineffectiveness of carbamazepine, valproate and levetiracetam, significant seizure control was achieved with phenobarbital in combination with levetiracetam. This case highlights the challenges in treating HECW2-related epilepsy and suggests phenobarbital as a potential option for refractory seizures.

THE LEGACY OF PROFESSOR K.Yu. MUKHIN

OBITUARY



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ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)