Introduction. Magnetic resonance imaging (in particular, functional MRI) is one of the most informative non-invasive methods for the analysis of structural and functional brain state, and an obvious direction for its development is to study the possibilities of this approach in various fields of medicine, including pediatric ophthalmology.

Objective. To determine the interhemispheric asymmetry by structural and functional indices and identify its correlations with each other, as well as with clinical characteristics in children with left-sided amblyopia.

Materials and methods. Twenty patients with left–sided amblyopia were included in the MRI examination group, however, according to the results of image quality control, the analyzed sample for structural MRI was 17 patients (age from 6.2 to 15.1 years, average aged of 9.5 ± 2.5 years, 9 boys and 8 girls), for functional resting MRI — 14 patients (aged of from 6.2 to 15.1 years, average age of 9.5 ± 2.5 years, 8 boys and 6 girls).

Results. Statistically significant asymmetry indices were identified for the thickness of gray matter in the lateral occipital cortex, for the volume of the thalamus, as well as for the local coherence of the hemodynamic signal in the inferior lateral occipital cortex, primary and secondary visual cortices, and lingual gyrus, although these parameters did not correlate with visual acuity in the amblyopic eye.

Conclusion. The findings may be associated with changes in neuroontogenesis, although further studies are required to confirm this.

Compliance with ethical standards. The study was conducted in accordance with the principles of the Declaration of Helsinki. All patients or their legal representatives signed voluntary informed consent.

Contribution:
Gorbunov A.V. — review of publications, data collection and analysis, writing the text of the manuscript;
Gorev V.V. — writing the text of the article, final approval for the publication of the manuscript;
Lebedeva I.S. — review of publications, data collection and analysis, writing the text of the manuscript;
Zavadenko N.N. — writing the text of the article, final approval for the publication of the manuscript;
Khatsenko I.E. — data collection and analysis, writing text;
Panikratova Ya.R. — data collection and analysis, writing text;
Tomyshev A.S — data collection and analysis, writing text;
Khasanova K.A. — data collection and analysis, writing text;
Gorbunov M.A. — data collection and analysis, writing text.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 23, 2024
Accepted: February 4, 2025
Published: April 30, 2025

Introduction. The advent of pathogenetic therapy has significantly changed the prognosis for spinal muscular atrophy (SMA). However, our knowledge of the pathogenetic methods of treating SMA is mostly based on the results of clinical trials, which are largely limited due to the narrow criteria for selecting patients and the short duration of the following-up.

Objective. To evaluate the efficacy of onasemnogene abeparvovec gene therapy in patients with SMA type I with clinical manifestations of the disease and in children at the presymptomatic stage of the disease in real clinical practice.

Materials and methods. The study included seventy nine SMA children including 42 boys (53.2%). The diagnosis was verified during DNA diagnostics. The children were divided into two subgroups, depending on whether they had symptoms of SMA at the time of inclusion in the study or not. 44 children had SMA type I with the onset of clinical symptoms before the age of 6 months of life. 35 children were at the presymptomatic stage of the disease. All patients received gene therapy with onasemnogene abeparvovec, the average age at themoment of conduction of therapy was 2.90 ± 1.74 months (95% CI: 2.51–3.29 months), min — 1.00 month, max — 7.00 months. A comprehensive assessment of clinical parameters (stages of motor development milestones according to WHO recommendations, HINE-2 and CHOP-INTEND scores) was carried out before the initiation of gene therapy and 6, 12, 18 and 24 months after its implementation.

Results. Children with SMA type I showed favour trend in motor development milestones after gene therapy. By the end of the second year of thefollow-up, 88.6% of patients held their head erect and rolled from back to sides; 60.5% could sit without support, but only 10.3% were able to achieve all motor skills, but none of these children achieved them in accordance with WHO criteria. The HINE-2 score increased from Me of 2.0 (1.00–2.25) points at the initiation of therapy to Me of 20.00 (16.50-24.50) points by the end of the follow-up period. Only two children (4.5%) of this subgroup reached the maximum score of 26 points. The CHOP-INTEND score increased from Me of 30.0 (22.00–37.25) points before starting treatment to Me of 60.0 (58.0-64.0) points by 24 months of follow-up. Only 11.4% of patients with SMA type I reached the maximum score of 64 points. The majority of the presymptomatic patients in our study achieved all motor development milestones according to WHO criteria according to their age on the background of gene therapy. All children from this subgroup who were under sufficient supervision and reached the age of walking alone (23 children) had a maximum HINE-2 score of 26 points by the age of 18 months. All children from this subgroup reached the maximum CHOP-INTEND score of 64 points by the age of 6 months.

Conclusion. The usage of onasemnogene abeparvovec in children with SMA type I both significantly modifies the course of the disease and improves outcomes compared with the natural history of SMA course with early onset, and the usage of gene therapy in most of the presymptomatic patients leads to the achievement of motor development milestones in accordance with WHO criteria.

Compliance with ethical standards. Permission for conducting this study was obtained from the local ethics committee of the National Medical Research Center for Children’s Health, of the Ministry of Health of the Russian Federation (minutes of the local ethics committee meeting No. 10 dated 06.10.2022).

Contribution:
Fisenko D.A. — concept and design of the review, writing the text, editing;
Kurenkov A.L. — concept and design of the review, writing the text, editing;
Kuzenkova L.M. — concept and design of the review, editing;
Chernikov V.V. — statistical data processing;
Uvakina E.V. — concept and design of the review, editing;
Popovich S.G. — editing;
Bursagova B.I. — editing;
Abdullaeva L.M. — editing;
Kurova J.А. — editing;
Adalimova N.S. — editing;
Nikolenko D.S. — editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: March 3, 2025
Accepted: April 4, 2025
Published: April 30, 2025

Introduction. Determination of neurofilaments (NF) levels in blood serum and CSF in children with spinal muscular atrophy (SMA) may be a promising biomarker of the severity and course of the disease, as well as a way of assessing the effectiveness of pathogenetic therapy.

The aim of the study was to determine the blood serum NF levels of in 0–24 months infants with SMA type I at the presymptomatic stage of the disease before and after gene therapy with onasemnogene abeparvovec (OA).

Materials and methods. The study included one hundred fifty five 0–24 months infants including 76 neurologically healthy children (group II), as well as 79 patients with SMA from group I (subgroup Ia — 44 infants with SMA type I, Ib — 35 infants at the presymptomatic stage of the disease) with a diagnosis of SMA. The majority of infants with type I SMA (subgroup Ia) had 2 copies of the SMN2 gene (n = 43; 97.7%), while infants from subgroup Ib (asymptomatic patients) had 3 copies (n = 31; 88.6%).

Results. The values of NF light and heavy chains in infants from group I were obtained before and after 3–6, 7–12, and 13–24 months after gene therapy with OA. The NF light chains level in the Ia subgroup before treatment was significantly higher than in the Ib subgroup (p < 0.001) and higher than in the control group (p < 0.001). The serum level of NF heavy chains in the Ia subgroup before treatment was also significantly higher than in the control group. In the Ia subgroup, there was a significant decrease (p < 0.01) in serum NF light chains 3–6 months after gene therapy (Me [Q1; Q3] — 22.97 [6.00; 48.54]) compared with the same indices before treatment (6.0 [5.92; 7.78]). Subsequently, after 7–12 months (6.15 [5.15; 7.30]) and 13–24 months (6.0 [5.7; 6.6]), stabilization of Me values was noted with a decrease in interquartile ranges. In the Ib subgroup, there was also a significant decrease (p < 0.01) in serum NF light chains levels 3–6 months after OA gene therapy (6.0 [6.00; 7.25]) compared with these indices before treatment (6.0 [6.00; 31.43]).

Conclusion. Determination of the blood serum NF light and heavy chains levels inSMA patient before and after gene therapy can be regarded as a marker of the severity of the disease and the effectiveness of treatment.

Compliance with ethical standards. Permission for conducting this study was obtained from the local ethics committee of the National Medical Research Center for Children’s Health, of the Ministry of Health of the Russian Federation (Minutes of the Local ethics committee meeting No. 10 dated 06.10.2022).

Contribution:
Fisenko D.A. — concept and design of the review, writing the text, editing;
Kuzenkova L.M. — concept and design of the review, writing the text, editing;
Kurenkov A.L. — concept and design of the review, editing;
Semikina E.L. — editing;
Uvakina E.V. — concept and design of the review, writing the text, editing;
Chernikov V.V. — statistical data processing;
Kurbatova O.V. — editing;
Komyagina T.M. — editing;
Konyashin M.V. — editing;
Popovich S.G. — editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: March 20, 2025
Accepted: April 7, 2025
Published: April 30, 2025

The purpose of the article is to present an up-to-date review of parasomnia in childhood and ways of their pharmacological correction. Unintended motor phenomena in children are classified into three main groups: arousal disorders, parasomnia associated with REM sleep, and other types of parasomnia, but scientific approaches consider this problem in a more multifaceted way, and modified triggers should be studied. The types of pathogenesis of REM and slow-wave sleep, and types of parasomnia in these phases are described in detail. When making a diagnosis, it is necessary to take into account the medical history and identification of triggers, and in this the objective role of video polysomnography is assigned. Attention should be paid to the pharmacological correction of parasomnia, in which drugs of various groups (antidepressants, tranquilizers, anxiolytics, adaptogens) are prescribed. However, it is extremely important for doctors who face this problem to understand their nature and be able to make a differential diagnosis.

Contributions:
Belov S.A. — concept and design, writing the text;
Gubeev B.E. — writing the text, editing;
Alekseeva O.A. — writing the text, editing;
Devlikamova F.I. — concept and design, editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 14, 2025
Accepted: February 4, 2025
Published: April 30, 2025

Aim of the review — to summarize current data on the pathogenesis, clinical manifestations, diagnosis, and treatment of peripheral neuropathy in patients with rheumatoid arthritis.

Peripheral neuropathy (PN) is a common complication of rheumatoid arthritis (RA), significantly impairing patients’ quality of life and leading to disability. This article provides an overview of current data on the pathogenesis, clinical manifestations, diagnosis, and treatment of PN in RA. Mechanisms involved in the pathogenesis of PN include vasculitis, autoimmune responses, neurogenic inflammation, and nerve compression. Clinical manifestations of PN are diverse and include sensory, motor, and autonomic disorders. Diagnosis involves clinical examination, electroneuromyography, ultrasound, magnetic resonance imaging (MRI), and nerve biopsy. MRI, including magnetic resonance neurography, functional MRI, and MRI spectroscopy, allows visualization of affected nerves, assessment of their structure and function, as well as detection of brain changes associated with pain. Treatment of PN in RA includes control of the underlying disease with disease-modifying antirheumatic drugs (DMARDs) and biologic therapy, as well as symptomatic treatment of neurological manifestations. In cases of vasculitic neuropathy, more aggressive therapy with high doses of glucocorticoids and/or cytotoxic drugs may be required. Conservative methods and surgical intervention are used to treat compressive neuropathies. Additional therapy includes drugs affecting neurotransmitters, B vitamins, and α-lipoic acid. In recent years, data have emerged on the effectiveness of palmitoylethanolamide and pterostilbene in the treatment of PN in RA, but further research is needed to confirm their efficacy and safety. Despite the progress made in understanding PN in RA, questions remain that require further study, including the development of more effective treatments and the identification of predictors of the development of neuropathy.

Contribution:
Makhmutova B.K. — development of the concept and structure of the review, analysis of literature on the topic, writing of review sections, editing of the text;
Orynbaeva A.M. — collection and analysis of data, interpretation of results, writing of review sections;
Pernebay A.N. — critical analysis of literature, formulation of conclusions, participation in the discussion of results, editing of the text;
Grigolashvili M.A. — collection and analysis of data, participation in the discussion of results;
Otarbaeva M.B. — analysis of literature, writing of review sections, editing of the text;
Battakova Sh.B. — analysis of data, participation in the discussion of results.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: September 22, 2024
Accepted: January 28, 2025
Published: April 30, 2025

The own observation of the patient and literature data on epidemiology, etiology, pathogenesis of schizencephaly development, diagnostic methods are presented.

The peculiarity of the presented case is the rarity of this malformation belonging to cortical dysgenesis. The results of observation demonstrate the child’s development, ability to acquire motor skills in the absence of epileptic seizures characteristic of this malformation, which gives a chance for rehabilitation measures and improvement of the quality of life.

Contribution:
Tkacheva N.V. — concept and design of the study, writing the text, editing;
Tsotsonava Zh.M. — concept and design of the study, writing the text, editing;
Belopasov V.V. — editing;
Soprunova I.V. — editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 15, 2024
Accepted: February 4, 2024
Published: April 30, 2025