The article represents an updated consensus of russian experts on the use of onasemnogene abeparvovec (Zolgensma®) gene replacement therapy in patients with spinal muscular atrophy 5q. Due to the introduction of expanded neonatal screening for sma in Russia starting in 2023 and the accumulation of clinical experience in the use of gene replacement therapy, patient selection criteria and management algorithms have been revised. The main provisions of the consensus include the expansion of indications for prescribing the drug regardless of the number of copies of the SMN2 gene, algorithms for managing patients with an increased titer of antibodies to AAV9 using bridge therapy, detailed recommendations for monitoring and correcting adverse events in the postinfusion period. Special attention is paid to the management of patients with hyperbilirubinemia and cytomegalovirus infection, the criteria for switching to gene replacement therapy from other types of pathogenetic therapy, as well as the possibilities of using an intrathecal form of gene replacement therapy in children over 6 months of age and adult patients. The consensus provides practical recommendations for clinicians to optimize spinal muscular atrophy therapy in the context of modern treatment options.

Background: Several critical periods are distinguished in child development, signifi cantly infl uencing the formation of organs and systems and the development of body functions. Nutrition plays a leading role among external factors infl uencing child growth and development.

Aim: The aim of the study was to comparatively analyze parenting practices regarding nutrition for young children living in the Central Federal District and North Caucasus Federal District.

Methods: From February 2024 to November 2025, a cross-sectional, non-randomized, uncontrolled study was conducted in the cities of the Central (Moscow, Kostroma, Ivanovo) and North Caucasus (Nalchik, Stavropol, Cherkessk) Federal Districts. The study included a questionnaire surveying parents of young children regarding their child nutrition practices. A total of 598 parents participated in the study. Children’s physical development was assessed using the WHO Anthro software (2009). StatTech v.4.11.2 (developer: StatTech LLC, Russia) was used for statistical analysis.

Results: It was found that parenting practices in organizing nutrition for children aged 1 to 3 years diff er in a number of important fundamental aspects between the regions of the Central Federal District and the North Caucasus Federal District. The most common problems in the cities of the North Caucasus Federal District include inadequate timing of the introduction of complementary foods (р <0.001), insuffi  cient use of industrially produced baby food (р <0.001), incomplete coverage of the young child population with preventive measures for vitamin D and iodine defi ciency, and signifi cant increase in the number of children receiving «unhealthy» food (р <0.001). However, an assessment of physical development showed that the number of overweight children is signifi cantly higher in the Central Federal District.

Conclusion: Systematic monitoring of nutrition and preventive measures against alimentary-dependent conditions among young children is necessary; methodological recommendations regarding nutrition for young children should be actively introduced among clinical practitioners and educational programs taking into account regional characteristics should be developed for parents.

Background: Speech disorders are a common and clinically signifi cant consequence of infantile epileptic spasms syndrome, but their nature and relationship to the history and clinical characteristics of the disease remain poorly understood. Research into the clinical and history features of speech dysfunction is essential for developing early prognosis criteria and targeted neurorehabilitation programs for this patient population.

Aim: To study the clinical and history features and the structure of speech disorders in children with infantile epileptic spasms syndrome.

Methods: The prospective study included 44 children with infantile epileptic spasms syndrome (28 boys, 16 girls) observed from 2018 to 2022. A comprehensive history collection, as well as clinical, neurological, and instrumental examination were performed, including a speech function assessment, electroencephalography (routine and video-EEG monitoring), and magnetic resonance imaging of the brain. Statistical analysis was performed using Microsoft Excel and Jamovi 2.3.21.

Results: The average age of the examined patients was 15.0±4.4 months. The average age of seizure onset was 5.01±4.13 months. A complicated perinatal period was identifi ed in the majority of patients: 86.4% during pregnancy, 72.7% during childbirth, and 68.2% during the neonatal period. Speech impairments were observed in all children, the most common of which were impaired phonemic perception (93.2%) and articulatory apraxia (88.6%). According to MRI data, structural brain changes were detected in 93.2% of the patients, the most common of which were: decreased white matter volume (36.4%) and ventricular dilation (54.5%). Delayed psychomotor development was diagnosed in 29.5% of children.

Conclusion: The study results demonstrate a high frequency and polymorphism of speech disorders in children with infantile epileptic spasms syndrome, closely associated with organic brain damage and a complicated perinatal history. The obtained data confi rm the need for an early multidisciplinary approach with the mandatory inclusion of speech therapy and neuropsychological examination already at the stage of diagnosis of infantile epileptic spasms syndrome for the timely initiation of comprehensive rehabilitation and improvement of long-term socially adaptive outcomes.

Myasthenia gravis is an autoimmune disorder of the neuromuscular junction caused by pathogenic autoantibodies targeting acetylcholine receptors (AChR), muscle-specifi c tyrosine kinase (MuSK), or other postsynaptic membrane components, characterized by pathological muscle fatigue and weakness. Rituximab, a monoclonal antibody targeting CD20 that induces B-cell depletion, demonstrates diff erential effi  cacy depending on the serological subtype of the disease. In MuSK myasthenia gravis, rituximab induces a robust and sustained therapeutic response by depleting precursor cells of short-lived plasmablasts that produce pathogenic IgG4 antibodies. In AChR-positive myasthenia gravis, rituximab effi  cacy is more variable and responses are often delayed, as a substantial proportion of pathogenic antibodies are produced by long-lived CD20-negative bone marrow plasma cells capable of sustaining antibody production independently of precursor B cells. Nevertheless, early rituximab administration in patients with recent disease generalization may accelerate achievement of Minimal Manifestation Status (MMS) and reduce the need for rescue therapy. In pediatric practice, rituximab represents a valuable therapeutic option for severe and refractory juvenile myasthenia gravis.

In this review, we synthesize data from randomized and observational studies, discuss dosing regimens, safety profi le, and the role of rituximab in current treatment algorithms.

The review covers a comprehensive assessment of reliable measurement of salivation in children: clinical, scale and instrumental.

In our study, we used only systematic reviews with a high level of evidence and evaluated their real potential for implementation in practical medicine. Based on various sources with a high level of evidence and a large sample of patients, the strengths and weaknesses of each scale used in the diagnosis of sialorrhea in children, their validity and the need for combination in clinical practice were evaluated. It should be noted that there are few publications on pediatric sialorrhea; most reviews address salivation in Parkinson’s disease. We conducted an electronic searching of PubMed, Web of Science, Scopus, Cochrane Library, eLIBRARY databases and bibliographies of key articles with evidence levels 1a, b, c, 2a and recommendation levels A. Inclusion criteria were the follosing: systematic reviews, randomized controlled trials, multicenter cohort studies with evidence levels 1a, b, c, 2a and recommendation levels A, children aged 4 to 18 years with sialorrhea. Exclusion criteria were the following: thematic articles, case reports, observations, cohort uncontrolled studies, experimental studies, reports, articles with evidence levels 2b, c, 3a, b, 4, 5 and recommendation levels B, C, D, adult age of patients, Parkinson’s disease, neonatal pathology, Huntington’s chorea. Based on our review, it was concluded that many studies of salivation are limited by the inaccuracy of using standardized quantitative methods for evaluation treatment effi  cacy and the need to combine scales for comprehensive study of this disease. The severity of sialorrhea varies daily, and sometimes hourly, or depending on everyday life circumstances. In clinical practice, it is necessary to quantify the frequency of sialorrhea and its impact on the quality of life of children and their social environment, as well as the dynamics and eff ectiveness of treatment. Incorrect assessment of the severity of sialorrhea can worsen the results of treatment and distort conclusions about the eff ectiveness of the applied therapies.

Based on a literature review, recommendations are made for a comprehensive assessment of salivation in pediatric sialorrhea.

Bloom-like syndrome is a rare autosomal recessive disorder caused by nucleotide variants in the TOP3A gene. It is characterized by clinical manifestations similar to Bloom syndrome, including a characteristic facial phenotype and physical development delay, but diff ers in the more frequent development of a dilated cardiomyopathy. These syndromes belong to the group of hereditary diseases associated by impaired DNA repair. Given the existence of isolated clinical cases with a predominant description of characteristic physical development delay, a detailed description of the course of dilated cardiomyopathy is signifi cant for understanding the disease and optimizing medical treatment.

Here is a description of the clinical course and features of the child’s management with a homozygous mutation c.2264_2265delinsT in the TOP3A gene, examined at the cardiology department of the National Medical Research Center of Children’s Health of the Ministry Health of the Russian Federation. An analysis of anamnesis data, including family history, results of clinical, laboratory, instrumental diagnostic methods, and molecular genetic testing performed using Sanger direct sequencing technology, was conducted.

A literature review of patients with mutations in the TOP3A gene was conducted. The presented clinical case demonstrates the importance of timely diagnosis of the disease, the high frequency of cardiac manifestations, particularly the steadily progressive and fatal course of dilated cardiomyopathy.

In childhood, dilated cardiomyopathy can be a dominant and life-threatening manifestation of TOP3A-associated Bloom-like syndrome. Given the risk of a sudden and aggressive course of dilated cardiomyopathy, identifying mutations in the TOP3A gene in children with physical development delay and a characteristic «bird-like» facies has important prognostic value. Improving the prognosis requires early diagnosis, including prenatal diagnosis in high-risk families, the development of pathogenetic therapy, and a multidisciplinary approach to patient management.