Introduction. Mucopolysaccharidoses (MPS) are a group of rare lethal lysosomal storage disoders. The progress in pathogenetic and symptomatic treatment, achieved in the last two decades, has resulted in increased life expectancy of patients. Assessment of functional abilities of patients is necessary for optimization of medical, psychological, and pedagogical support.

The aim of the study. To study the adaptive skills, measured with Vineland Adaptive Behavior Scales, and the impact of enzyme-replacement therapy on adaptive skills in MPS children.

Materials and methods. A semi-structured interview for Vineland Adaptive Behavior Scales filling was carried out with one of the parents of 59 children with MPS. 41 patients had neuronopathic disease: 20 children received pathogenetic еnzyme replacement therapy (ERT), 21 patients didn’t receive ERT. 18 patients exhibited non-neuronopathic disease: 8 children received ERT, 10 — didn’t receive pathogenetic therapy. Dynamical changes in adaptive skills were investigated in 11 patients with neuronopathic MPS.

Results. Low level of adaptive motor, communication, daily living and socialization skills and their dynamical regress, stagnation or decele­ration are characteristic for children with neuronopathic MPS. More than 75% of non-neuronopathic MPS patients have moderately low and low levels of adaptive behavior composite. ERT hasn’t demonstrated significant impact on adaptive skills in MPS patients. Non-significant tendency toward better level of communication skills has been noticed in children, receiving pathogenetic therapy. Necessity of weekly infusion may have a negative influence on patients’ socialization.

Conclusion. Elaboration of motor, pedagogical, and social rehabilitation programs is needed for correction of deficiency in adaptive skills and  achieving adequate social adaptation in MPS children with preserved cognitive abilities.

Contribution:
Osipova L.A. — concept, data collection, data processing and analysis, text writing, text editing;
Kuzenkova L.M. — concept, text editing; 
Podkletnova T.V. — concept, text editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgments. The study had no sponsorship.

Conflict of interest. The authors declare participation in educational activities with the support of Takeda Pharmaceutical Company.

Received: February 2, 2023
Accepted:  March 3, 2023
Published: April 20, 2023

Introduction. Dystonia is a syndrome with location of pathological mechanisms in the central nervous system. The clinical manifestation of the syndrome is dystonic hyperkinesis with the formation of increased muscle tone, which may be associated with changes in cellular metabolism. Aim is to evaluate the indicators of energy metabolism in the muscles involved in dystonic hyperkinesis and compare with the severity of dystonia in patients with idiopathic muscular dystonia.

Materials and methods. There were examined eighty four patients diagnosed with idiopathic muscular dystonia, including 17 men (20.2%) and 67 women (79.8%). In 38 cases there was cervical muscular dystonia,  36 and 10 cases showed segmental and generalized forms of dystonia with predominance of cervical dystonia syndrome, respectively. The average age of patients was 46 ± 11 among men and 52 ± 11 among women. The control group included 10 conditionally healthy individuals with an average age of 53.0 ± 13.4 years. The severity of cervical dystonia was assessed by the TWSTRS and Tsui scales. All participants of the study underwent biopsy sampling from the trapezius muscle, followed by determination of the level of ATP (adenosine triphosphoric acid), lactate and 2,3 DPH (2,3-diphosphoglyceric acid).

Results. The results of the study revealed changes in the bioenergetics of muscle tissue in the form of a decrease in ATP and 2,3-DPH and an increase in lactate levels that did  not correlate with the severity of dystonia on the TWSTRS and Tsui scales.

Conclusion. Thus, bioenergetic changes in muscle tissue are not associated with the severity of dystonia and probably reflect general changes in the organization of intracellular energy metabolism in muscles in a hypertonic state.

Compliance with ethical standards. The study was approved by the local Ethics Committee of the Privolzhsky Research Medical University (Protoсol No. 10 of 26.06.2020).

Contribution:
Bushueva O.O. —  research design, material collection and data processing, statistical processing, text writing;
Antipenko E.A. — research design, writing and editing text;
Deryugina A.V. — writing and editing text, performing laboratory tests.
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: February 24, 2023
Accepted:  March 3, 2023
Published: April 20, 2023

The problems of providing specialized nutrition and drugs for patients with rare diseases are currently one of the most discussed by medical specialists in various fields. These issues are especially relevant in light of the expansion of neonatal screening, which started in the Russian Federation in 2023, by expanding the list of rare diseases. The review highlights the current foreign practice of providing for certain categories of patients, primarily, children in need for long-term, sometimes lifelong use of specialized health food products. There is also considered the current situation in the Russian Federation, and the possibilities of domestic production of this category of food products. Currently, patients are provided with vital medical nutrition. The article discusses a number of problems associated with providing children suffered from hereditary and chronic pathologies with specialized nutrition, and first of all, these are patients identified by advanced neonatal screening. From the moment the diagnosis is established to the initiation of pathogenetic diet therapy, a certain time passes, sometimes, several months, which for patients with a high risk of metabolic crises (hereditary metabolic diseases) can be critical and, if untreated, lead to death. To solve these and other problems it is proposed to consider the possibility of centralized provision of specialized medical nutrition products to infants and young patients, attracting state charitable funds for the prompt supply of medical nutrition to patients who need it, the feasibility of optimizing the domestic system for covering the costs of specialized medical nutrition products. for patients with various pathologies who need them, regardless of the status of “disabled”.

The databases of The Rare Disease State Report Card, European Medicines Agency, PubMed, Consultant Plus, RSCI were used to search for material in the review.

Contribution:
Bushueva T.V. — concept and design, text writing, editing;
Borovik T.E. — concept and design, text writing, editing;
Fisenko A.P. — editing
Kuzenkova L.M. — editing;
Sokolova A.V. — collection of material;
Zvonkova N.G. — collection of material;
Kutsev S.I. — 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: February 15, 2023
Accepted:  March 3, 2023
Published: April 20, 2023

Despite the low prevalence of cerebrovascular diseases in childhood, up to 60% of children realize acute symptomatic epileptic seizures and up to 30% of patients develop post-stroke epilepsy in the long-term period. The lack of a unified terminology and temporal criteria for both acute symptomatic epileptic seizures and post-stroke epilepsy complicates the analysis of the studied groups. Many studies are limited to small groups, proprietary terminology, different age medians, and inclusion criteria. Both clinical and instrumental risk factors for the development of post-stroke epilepsy in childhood have not been identified, which makes it difficult to identify risk groups and predict the outcome in the long term period. The only significant risk factor in most publications is «younger age», but its boundaries are blurred. Most studies are retrospective, which may affect the incidence and type of epileptic seizures in acute cerebrovascular accident. Electroencephalography is the most informative method for detecting subclinical changes and identifying risk groups. Continuous electroencephalography is effective primarily in the detection of non-convulsive status epilepticus. Currently, there are no unified protocols for examining stroke patients, both at the onset and in follow-up. The search for articles was carried out in the scientific platforms PubMed, Google Scholar, eLIBRARY.

Contribution:
Kuznetsova A.A. — research design development, review of publications on the topic of the article, preparation of a list of references, writing the text of the article;
Shchederkina I.O. — research design development, review of publications on the topic of the article, writing the text of the article, editing and approval text of the article;
Sinkin M.V. — editing and approval text of the article;
Gorev V.V. — editing and approval text of the article.
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: February 21, 2023
Accepted: March 3, 2023
Published: April 20, 2023

Multiple sclerosis (MS) is a rare neuroinflammatory and neurodegenerative disease that leads to disability and a significant decrease in the quality of life. Over the past decade, the focus of studies of MS disease-modifying therapies (DMT) in adults have significantly changed to highly effective drugs at the early stages of the disease; in pediatric patients, safer, but less effective DMTs are preferred.

Today, only two DMTs (fingolimod and teriflunomide) investigated over large phase III studies were approved by regulatory authorities for use in children.

In recent years, an increasing number of MS children have been receiving highly effective therapy with drugs such as natalizumab, monoclonal antibodies to CD20, monoclonal antibodies to CD52, and autologous hematopoietic stem cell transplantation. These highly effective methods of treatment provide a significant reduction in the inflammatory activity of the disease compared to the first-line DMTs. Therefore, a number of phase II and III studies are currently conducted to assess their efficacy and safety in MS children.

This review is related to the basic treatment of MS in pediatric patients, the study of the efficacy and safety of the currently available drugs.

Contribution:
Abdullaeva L.M. — concept and design of the study, writing the text, editing;
Bursagova B.I. — writing the text, editing;
Kurenkov A.L. — editing;
Kuzenkova L.M. — 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: February 17, 2023
Accepted: March 3, 2023
Published: April 20, 2023

Baló’s concentric sclerosis is a rare variant of atypical pseudotumor demyelination, having a pathogenetic similarity with multiple sclerosis and a characteristic neuroimaging pattern with relative clinical heterogeneity. In children and adolescents, Baló’s concentric sclerosis even rarer than in adults, is represented in the scientific literature by single descriptions of clinical cases with a polymorphic clinical phenotype and various anamnestic prerequisites (for example, infectious). Moreover, the published cases do not involve the analysis of a long-term clinical following up in children and adolescents with this pathology, possibly due to their transition to adult neurological services as they grow up. This sample does not allow the analysis of cases of Baló’s concentric sclerosis with pediatric debuts and answer questions about the clinical features and therapeutic needs for such patients. Especially a lot of questions have accumulated concerning approaches to the treatment of patients with the classical, mono-focal form of Baló’s concentric sclerosis. The lack of scientific and clinical information hinders the adoption of administrative decisions on prescribing drugs from the PITRS group (drugs that change the course of multiple sclerosis) to such patients. To replenish the literature base of pediatric cases of Baló’s concentric sclerosis, we analyzed the Russian experience of long-term (from 2 to 6 years) curation of three juvenile patients with acute non-infectious demyelinating episode and monofocal concentric lesion of the white matter of the brain. Russian data demonstrate the long-term efficacy and tolerability of drugs from the PITRS group among pediatric patients with Baló’s concentric sclerosis.

Contribution:
Bykova O.V. — writing the text;
Kudryavtseva O.I. — text editing;
Sarzhina M.N. — writing the text;
Batysheva T.T. — writing the text; final approval for the publication of the manuscript.
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: February 16, 2023
Accepted: March 3, 2023
Published: April 20, 2023