Background. The health-related quality of life (HRQL) in children with inflammatory bowel diseases (IBD) is one of the key criteria for evaluating the effectiveness of therapy and the organization of medical care. To date, Russia has lacked validated tools for a standardized comprehensive assessment of HRQL in pediatric patients with gastrointestinal tract pathology, which limited the comparability of domestic data with international studies. The aim of the study is to verify the reliability, validity and sensitivity of the Russian-language version of the module of gastrointestinal symptoms of the general PedsQL questionnaire and to determine its suitability for assessing HRQL in children with IBD of different age groups. Patients and methods . The study included 346 patients aged 2 to 18 years with confirmed diagnoses of ulcerative colitis and Crohn’s disease. In the cross-sectional part, HRQL in children with IBD was evaluated simultaneously, in the cohort part, the dynamics before and after surgery. To analyze the psychometric properties of the module, the Cronbach’s alpha coefficient, an assessment of the constructive and convergent validity, as well as the sensitivity of the instrument were used. Results. The Russian-language version of the module of gastrointestinal symptoms of the general PedsQL questionnaire showed high internal consistency of scales (Cronbach’s alpha from 0.721 to 0.983), reliable validity (the tool differentiates groups of patients with different stages of the disease), as well as sensitivity (statistically significant improvement in HRQL after surgical treatment). Conclusion. The Russian-language version of the module of gastrointestinal symptoms of the PedsQL general questionnaire has satisfactory psychometric characteristics and can be successfully used to assess HRQL in children with IBD in Russian clinical and scientific practice. The tool expands the possibilities of medical monitoring, makes it possible to objectify the effectiveness of therapy and form personalized approaches to the management of patients in this category.

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 the moment 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 the follow-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.

Introduction. There were conducted numerous studies to assess the management of nutrition in young children living in the Russian Federation. However, this problem remains poorly studied in the regions of the North Caucasus Federal District and requires further development. Aim. To determine the features of nutrition management and the frequency of alimentary-dependent conditions in young children living in the regions of the North Caucasus Federal District (using the cities of Stavropol, Nalchik, and Cherkessk as examples).Materials and methods. A multicenter non-randomized cross-sectional study was conducted: a survey of pediatricians and parents on the management of rational nutrition in, children from 1 year to 3 years of age from health groups I and II based on questionnaires developed by the researchers.Results. The data of the study demonstrated significant differences in the opinions of pediatricians and parents on the adequacy of nutrition in young children (p < 0.001). A significantly high frequency of overweight/obesity was revealed in Stavropol (39%) compared to Cherkessk (22%), iron deficiency conditions, including anemia: 30%, 52%, 21%, respectively, while in Stavropol it was more common compared to Nalchik and Cherkessk (p < 0.001), as well as rickets: Stavropol — 39% versus Nalchik — 37% and Cherkessk — 20% (p = 0.029). A significant increase in the consumption of “unhealthy” food products by children over the third year of life in Cherkessk (p = 0.015) and Stavropol (p < 0.001) was revealed, as well as a direct effect of the level of mothers’ education on the consumption of such “harmful” products for children as carbonated sweet drinks (p < 0.001) and sausages (p = 0.013).Conclusion. The identified violations in the nutrition of young children living in the North Caucasus region can be the cause of a high frequency of alimentary-dependent conditions, which requires increased attention to educational work in primary outpatient care using popular information materials available to the population to introduce the principles of healthy nutrition for children into practice and form correct eating behavior in them.Contribution: Bushueva T.V., Borovik T.E., Skvortsova V.A. — concept and design of the study; Khubieva M.U., Lukoyanova O.L., Guseva I.M., Chernikov V.V., Komarova O.V. — collection and processing of the material; Bushueva T.V., Khubieva M.U., Chernikov V.V. — statistical processing of the material; Bushueva T.V., Borovik T.E., Khubieva M.U. — writing the text; Fisenko A.P. — editing the text.All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.Acknowledgment. The study had no sponsorship.Conflict of interest. The authors declare no conflict of interest.Received: August 11, 2025Accepted: October 02, 2025Published: October 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 in SMA patient before and after gene therapy can be regarded as a marker of the severity of the disease and the effectiveness of treatment.

Introduction. From an early age, patients with cerebral palsy (CP) require long-term, individual rehabilitation assistance to maintain impaired functions, develop self-service, social activity, and improve the quality of life (QOL). Changes in the QOL indices make it possible to adequately and timely determine the effectiveness of the ongoing medical rehabilitation in CP patients. Aim: to determine the effectiveness of short-term and long-term rehabilitation programs for CP patients. Materials and methods. One hundred nine 5 to 18 years CP patients were examined. Of these, the 1st group consisted of 34 children who were rehabilitated under a long-term comprehensive program within the framework of the First Step project. The 2nd group consisted of 75 CP patients underwent a single rehabilitation course for 28 days. The comparison group consisted of 115 conditionally healthy children of the same age. The leading criterion for evaluating the effectiveness of rehabilitation programs was the quality of life in patients, determined by questioning the legal representatives of patients using the Russian version of the Health Utilities Index (HUI) questionnaire for children from 5 to 12 years old, as well as the Proxy version for over 12 years children by self-assessment (HUI23S2RU.15Q, Self-version). Results. The total quality of life in CP patients was found to be low compared with conditionally healthy children in such aspects as speech, the ability to move, fine motor skills, and cognitive development. When analyzing the trend in multi-attribute utilita­rian indices (HUI3) of QOL in CP patients in the 1st and 2nd groups after 12 months. from the beginning of the first rehabilitation, significant positive changes in overall quality of life were determined in patients with cerebral palsy of the 1st group who received comprehensive rehabilitation compared with the level in patients of the 2nd group who underwent rehabilitation once. In CP patients from the 1st group, there was revealed a significant improvement in quality of life in the aspects of “Ability to move”, “Cognitive development” and “Pain”. The analysis of the cost-benefit data showed that the cost per 1 QALY in CP patients of the 2nd group rehabilitated under the short-term program is less. However, in patients with cerebral palsy from the 1st group, a higher usefulness (effectiveness) of a long-term rehabilitation program has been established. Conclusion. A long-term comprehensive rehabilitation program for patients with cerebral palsy is effective and significantly improves the quality of life of sick children and their families.

Introduction. In modern conditions, the quality of life (QoL) is regarded as one of the main and reliable tools for health state research. Most questionnaires for the quality of life assessment have been developed for children with various diseases, and studies of the quality of life in somatically healthy children are few. The study of the processes of a child’s adaptation to learning in primary school mainly has a psychological and pedagogical focus. There are virtually no scientific papers covering the course of a child’s adaptation to learning in the first grade. Objective. To assess the adaptation of children to learning in the first grade using QoL indices. Materials and methods. The study was conducted from the fall of 2022 to the spring of 2023. To assess the QoL, the Russian-language version of the international instrument was chosen — the general questionnaire — Pediatric Quality of Life Inventory — PedsQL 4.0. The Kern–Jerasik test was used to assess the school maturity. A total of 454 questionnaires in 7–8 years of children going in for the school of the Moscow region were analyzed. Results. When assessing the Kern–Jerasik test for readiness for school, it was found that only a quarter of the children was found to be completely ready for school, the same number of younger schoolchildren had risks at the beginning of the study, and most of the children fell into the “maturing” group with good potential for development. At the end of the school year, a repeat examination of children was conducted. More than 50% were assessed as “mature”, 35% fell into the “maturing” group with a favourable prognosis and 13% of children remained in the risk group at the end of the school year. When assessing the QoL at the beginning of the school year, children from the risk group were noted to have worse scores compared to other groups in physical, social, and school functioning. Assessment of QoLin children in this group at the end of the school year showed the scores on all scales to remain significantly lower than those of children from other groups. When assessing the course of QoL during the school year, both in children at risk and in mature children, the index significantly decreased in all aspects of functioning, primarily due to the emotional aspect. Conclusion. New data on the QoL in primary school children was obtained. The demonstrated capabilities of the PedsQL 4.0 questionnaire and the Kern–Jerasik Test, when used together, can provide material for creating a more complete picture of the life of children entering school and predicting their adaptation based on changes in QoL indice during the first year of the study.

Introduction. Electromyography (EMG) is a modern method of instrumental neurophysiological diagnostics, which includes two main techniques as nerve conduction studies and needle EMG. Parameters of motor nerve conduction studies have been used in a number of clinical studies to evaluate the effectiveness of treatment in children with spinal muscular atrophy (SMA) during the use of pathogenetic therapy (nusinersen). Now, in our country there are no verified normative parameters of motor nerve conduction studies in infants. It is also worth saying that neonatal screening for identifying SMA patients started in 2023 in our country, and currently gene therapy for this disease is increasingly used, so improving methods for instrumental assessment of the dynamics of the condition during treatment, including using EMG, is relevant. Objective: to determine the normative parameters of motor nerve conduction studies in 1–6 months, 7–12 months, and 13–24 months infants without neurological pathology. Materials and methods: The motor nerve conduction studies were carried out using a 2-channel electromyograph Neuro-MVP-Micro (Russia) with electrical stimulation of the ulnar nerve and registration of the compound muscle action potential (CMAP) from the abductor digiti minimi muscle. This made it possible to determine the main parameters of the negative peak of the CMAP — distal latency, amplitude and area, and calculate the motor nerve conduction velocity (MNCV) along the distal part of the ulnar nerve. The obtained data for each parameter were subject to normal distribution and presented in the form of mean and standard deviation (M±SD), minimum and maximum values (min – max). Results: In the age range of 1–6 months, the amplitude of the CMAP (mV) was 5.0±1.0 (3.0–8.0); CMAP area (ms∙mV) — 9.1 ± 2.1 (5.5–12.9); distal latency (ms) — 2.2 ± 0.2 (1.6–2.5), MNCV (m/s) — 37.5 ± 5.4 (27.5–48.9). In the age range of 7–12 months, the amplitude of the CMAP (mV) was 6.2 ± 1.3 (3.8-9.3); CMAP area (ms∙mV) — 11.7 ± 3.0 (6.5–18.6); distal latency (ms) — 2.0 ± 0.2 (1.4–2.4), MNCV (m/s) – 48.4 ± 4.1 (42.1–55.2). In the age range of 13-24 months, the amplitude of the CMAP (mV) was 6.4 ± 0.6 (5.0-7.3); CMAP area (ms∙mV) — 13.3 ± 2.8 (9.8–18.2); distal latency (ms) — 2.2 ± 0.2 (1.8–2.5), MNCV (m/s) – 52.6 ± 3.8 (41.8–57.3). Conclusion. For the first time, normative parameters of motor nerve conduction studies were obtained in 1–6, 7–12, and 13–24 months infants without neurological pathology. This will make it possible to objectify neurophysiological parameters in neuromuscular diseases in infants.

Background. Health Related Quality of Life (HRQL) is a person’s perception of the effect of a disease on physical, social and psychological functioning and wealth. Questionnaires that help assess the HRQL can give a concept of child’s state, identify arcane issues and they are of great importance for a full understanding of how the state of health affects the child. Universal HRQL tools allow to compare results with general parameters, indicators with specific symptoms better reflect clinically significant moments. The most widespread in the Russian Federation was the general PedsQL TM 4.0 questionnaire, widely used in practice to assess HRQL in children with various pathologies. Objective. The aim of the study is to describe the analysis of linguistic accuracy and authenticity of the content of the Russian version of the module of gastrointestinal symptoms of the PedsQL TM questionnaire, measuring HRQL, in children with gastrointestinal disorders (GIDs). Materials and methods. The establishment of linguistic accuracy and authenticity of the content was carried out according to international standards. The process included forward translation, scientific assessment and coordination, reverse translation, verification of the reverse translation and interviews with 17 children aged 5–18 years with symptoms of GIDs and 20 parents of children with symptoms of GIDs aged 2–18 years. Results. The Russian version of PedsQL TM module of gastrointestinal symptoms (report from children 5-18 years old, report from parents for children 2–18 years old) was developed without significant difficulties. Eight questions required discussion after the forward translation, one change was made after the reverse translation, and three changes were made after the study of the symptom’s module by patients and parents. Conclusion. A conceptually equivalent version of the of PedsQL TM module of gastrointestinal symptoms in Russian has been developed for children aged 2–18 years. It allows to improve the assessment of HRQL in children with GIDs in the Russian Federation. To assess authenticity and reliability of the Russian version of the module, it’s recommended to conduct further research using a larger sample

BACKGROUND: The preventive direction of medicine has become increasingly popular in recent years. The government has paid much attention to the health of the population and preventive examinations. Among the main priorities of the state, the health of the pediatric population remains a guarantee of a healthy nation. AIM: To assess the health status of the pediatric population of the new territories of the Russian Federation and develop measures to further improve medical care at the regional level. MATERIAL AND METHODS: The study enrolled children aged 017 years living in the new territories of the Russian Federation, namely, the Donetsk Peoples Republic, Luhansk Peoples Republic, Zaporozhye oblast, and Kherson oblast. A total of 32 teams of specialists from 30 territories of the Federation have been formed to conduct in-depth preventive medical examinations of the pediatric population of these new territories. RESULTS: The study participants were predominantly children aged 014 years. The overall morbidity in all regions was dominated by diseases from the five classes according to ICD-10, namely, diseases of the musculoskeletal system and connective tissue; endocrine, nutritional, and metabolic diseases; of the eye and adnexa; and disorders of the nervous system, respiratory system, and psychological development. Half of the study participants were diagnosed with a disease for the first time in their lives. In the Russian Federation, the high proportion of healthy children is due to the contingent of the child population, and the third group of health with better detection of diseases due to the in-depth nature of preventive medical examinations. The distribution into groups for physical education corresponded to health groups. According to the preventive medical examinations results, more than a third of the total number of examined children was transferred to dispensary supervision. Emergent and urgent cases and mental disorders require measures under stable conditions. CONCLUSION: The results of the preventive medical examinations can be the basis for subsequent therapeutic, diagnostic, and rehabilitation work by medical organizations and preventive and health-improving activities by educational institutions.

Федеральное государственное автономное учреждение «Национальный медицинский исследовательский центр здоровья детей» Минздрава России, Москва Целью исследования явилась оценка неврологических последствий и качества жизни детей и взрослых, перенесших менингит в детском возрасте.В зависимости от времени, прошедшего после менингита, были выделены периоды ближайшего катамнеза (1-6 месяцев), отдаленного катамнеза (1-3 года) и дальнего катамнеза (20-40 лет).Инструментом оценки качества жизни явилась русскоязычная версия опросника HEALTH UTILITIES INDEX Russian -Proxy-assessment: HUI23P2RU.15Q,включающая 8 шкал: зрение, слух, речь, способность передвигаться, мелкая моторика, эмоции, когнитивные способности, боль.Степень нарушения функционирования классифицировалась как отсутствующая (НФ 0), легкая (НФ I), средняя (НФ II), тяжелая (НФ III).Анализ, проведенный с позиции катамнеза, показал, что в исходе менингита в последующие годы увеличиваются частота и спектр неврологических расстройств

Background. Appropriate prescribing of complementary food allows to optimize the intake of macro- and micronutrients, provides adequate indicators of growth and development of the child, reduces the risk of non-infectious pathology. Taking into account the significance of this problem, World Health Organization (WHO) experts, together with The European Society for Paediatric Gastroenterology Hepatology and Nutrition, carried out a research where they studied issues related to the appointment of complementary food for children in the European Region and their compliance with existing recommendations. Aim. To study the features of the introduction of complementary food in the Russian Federation on the basis of an assessment of the implementation of the recommendations of the "National program for optimizing the feeding of children in the first year of life in the Russian Federation", 2009 and to conduct a comparative analysis of the results obtained and the data presented in the study carried out by WHO experts. Materials and methods. A multicenter retrospective, uncontrolled, non-randomized study was conducted in 7 cities of the Russian Federation. Results. The median age at which complementary foods were introduced was 5 [46] months; vegetables (51.0%) and cereals (31.2%) were the first complementary food products; children began to receive fruit mainly (77.3%) in the second half of life; the age of introduction of meat puree was 7 [68] months, while every 4th child by 9 months did not receive meat; juices were introduced at 7 [69] months, but in 8.8% of children juices became the first product of complementary foods; median age for yolk administration was 8 [710] months, fish 9 [810] months. Only 14.0% of mothers used products of exclusively industrial production in the nutrition of their children, 33.9% prepared it themselves. Correlation analysis did not revealed any relationship between the body weight of a child at the age of 12 months and the time of introduction of the first complementary food product, as well as with the age of introduction of each of the introduced products. A connection was established between the body weight of a child at the age of 12 months and the volume of individual products that children receive between the age of 6 and 12 months. The recommendations of the National program for optimizing the feeding of children in the first year of life in the Russian Federation were generally implemented. Our analyses revealed the most frequent violations during the introduction and use of complementary food products: late start of their introduction (after the age of 6 months) in 41.3% of children, delayed prescription of meat, frequent use of home-made cereals not enriched with micronutrients, dilution of dairy-free porridge with water, irregular inclusion in the diet of egg yolk. Conclusion. The results obtained confirm the importance of implementation of the Program for Optimizing Feeding of Children in the First Year of Life in the Russian Federation updated in 2019 and approved by the Ministry of Health of Russia and indicate the need for further work on its improvement.

КлИНИчЕСКИЕ ОСОБЕННОСТИ И ИСХОДы МЕНИНГИТОВ у ДЕТЕЙ В РЕСпуБлИКЕ СЕВЕРНАя ОСЕТИя-АлАНИя М. В. Голубева 1 , З. В. Боллоева 2 , О. А. Мусаелян 1 , л. А. Гарбуз 1 , О. В. Агранович 1 , л. В. погорелова 1 , И. В. Винярская 3 , В. В. черников 3 1 Ставропольский государственный медицинский университет, Российская Федерация 2 Северо-Осетинская государственная медицинская академия, Владикавказ, Российская Федерация 3 Национальный медицинский исследовательский центр здоровья детей, Москва, Российская ФедерацияIn children with a history of bacterial meningitis, deeper functional impairments are also detected during self-examination of health indicators related to visual function, pain, and ability to control it, cognitive ability of memory and thinking, self-care, and the emotional sphere.

The aim is to identify, through a sociological survey of legitimate representatives of children with autism spectrum disorders (ASD), the problems that they face in their lives, to further improve the provision of medical and social assistance. Materials and methods. A survey of legal representatives of ASD minors (aged 1–11 years) was conducted. Results. The study of the living conditions of a child with autism in the family, the assessment by parents of his state of health, problems arising in the registration of disability, in the provision of medical and rehabilitation assistance and issues of medical and social support made it possible to determine the situation of this group of the child population in modern medical and social conditions. The main problems were the collection of a large number of documents during the registration of disability, the long wait for the day of examination, the remoteness of the location of the medical and social examination bureau, the lack of specialist doctors, the lack of consideration of the individual needs of the child when conducting individual rehabilitation programs, the need to contact various institutions and departments, the lack of medical and social assistance, violation of rights in the provision of medical services to a child with autism. Conclusion. It is necessary both to expand research aimed at studying etiopathogenetic factors and developing strategies for the prevention and early diagnosis of autistic disorders in childhood, destigmatization, and educational work in society.

Introduction. Mucopolysaccharidoses (MPSs) represent a group of rare lysosomal storage diseases, associated with the decline in life expectancy and impairing it’s quality. Despite prolonged evaluation of the effectiveness of pathogenic therapy, patient-reported outcomes are poorly defined. The aim of the study. To describe the impact of enzyme-replacement therapy (ERT) on the quality of life in MPS children, using parent-completed validated questionnaires. Materials and methods. Parents of forty five MPSs children (27 - with neuronopathic disease, 18- with non-neuronopathic disease, 31 among them were treated with ERT) completed parent proxy-report of Pediatric Quality of Life Inventory™ (PedsQL™) 4.0 Generic Core Scales. Parents of seventeen children (10 - with neuronopathic disease), treated with ERT, completed PedsQL™ 4.0 Generic Core Scales twice, parents of 7 children with non-neuronopathic disease, treated with ERT, completed Childhood Health Assessment Questionnare (CHAQ) and visual analogue scale (VAS) of pain and overall health status, parents of 10 children with neuronopathic disease, treated with ERT, completed VAS of pain and overall health status twice. Cross-sectional and dynamic analyses have been undertaken. Results. Stabilization and lack of significant improvement of functional disability, quality of life and VAS scores of pain and overall health status have been demonstrated. In 57% of patients with non-neuronopathic disease, treated with ERT, mean score of «School Functioning» decreased, in 80% of patients with neuronopathic disease, treated with ERT, mean score of «Physical Functioning» decreased. In 50% of children with neuronopathic disease and in 57% of children with non-neuronopathic disease, mean score of «Emotional Functioning» improved. Conclusion. MPS children, treated with ERT, require additional psychological and educational help, as well as regular motor rehabilitation.

Quality of life is an essential component of information about children with neurodevelopmental disorders, including autism spectrum disorders. The purpose of the present study was to assess the quality of life of children with this pathology. Materials and methods. Fifty-two 5-6 year patients with autism spectrum disorders were examined at the clinical and diagnostic centre of the Federal State Autonomous Institution «National Medical Research Center for Children’s Health» of the Ministry of Health of the Russian Federation. The comparison group was fifty-one healthy children matched for age and gender. Quality of life was assessed by interviewing patient parents using the Russian-language version for 5-12 years children of the Health Utilities Index (HUI). Statistical analysis was performed using the «SPSS v.26.0» («StatSoft Inc.»). Results. The quality of life of children with autism spectrum disorders turned out to be significantly lower than the scores of healthy children due to the aspects of «Speech», «Cognition», «Emotion». At the same time, parents of patients were less likely to note the presence of pain. Levels of disability categories are determined for each attribute of quality of life. Conclusion. Presented features of violations of quality of life in children with autism spectrum disorders allow suggesting a complete picture of the disorders to improve the medical care of these patients.

Malnutrition (MN) is common in children with acute and chronic illnesses. The use of questionnaires to assess nutritional risk in children admitted to hospital is a simple and quick way to identify patients who need nutritional advice and nutritional support. Various English-language screening questionnaires, such as STRONGkids nutritional risk screening tool for children, in particular, have been developed and validated. The purpose of the study is to adapt the STRONGkids nutritional risk screening tool for the Russian language speaking audience and to determine the reliability and validity of its new language version. Materials and methods of research: linguistic ratification of the STRONGkids questionnaire was carried out and the Russian language version was created. This single-center prospective study included 419 children admitted from October, 2019 to March, 2021 for treatment in Therapeutic Pediatric (cardiac, nephrological, gastroenterological, pulmonological etc.) and Surgical Pediatric (abdominal, thoracic, otorhinolaryngological, cardiosurgical etc.) Departments of the National Medical Research Center for Children’s Health (Moscow, Russia) with a hospital stay longer than a single day. The reliability of the questionnaire was assessed in 50 children. The anthropometric indicators were used to assess the current validity; the duration of hospitalization was used to assess the predictive validity. Body mass index-for-age (BMI-for-age) <-2SD and Length/height-for-age <-2SD z-scores were criteria for acute and chronic MN, respectively. Results: almost complete (κ=0.84) inter-expert agreement was found during the evaluation of reliability of the STRONGkids questionnaire. The validation study included 419 patients (51% boys/49% girls) aged from 1 month till 17 years and 11 months old (8 years old as median) with hospitalization duration from 1 to 100 days (10 days as median), of which 314 (75%) and 105 (25%) therapeutic pediatric and surgical pediatric patients, respectively. The frequency of acute and chronic MN at admission was 9.1% and 7.4%, respectively, and the percentage of children at low, moderate and high risk (assessed by the questionnaire) was 22.7%, 66.6% and 10.7%, respectively. Children at nutritional risk had statistically significantly (p<0.05) lower BMI-for-age and Length/height-for-age z-scores, greater incidence of MN and longer hospital stays than patients without nutritional risk. A chronic disease addendum, complications and high nutritional risk according to the questionnaire are independent unfavorable factors for an increase in the duration of hospitalization. Conclusion: the Russian language version of the STRONGkids nutritional risk screening tool for children was adapted and validated to assess nutritional risk in children admitted to hospital for treatment. Since right now it can be of use for identifying patients at high risk of MN for the purpose of their additional examination and timely administration of nutritional support and can be used both in routine pediatric clinical practice and in purpose of further scientific research.

Introduction. Patients with cerebral palsy (CP) are especially vulnerable to the development of osteopenia. Skeletal deformities caused by immobility (prolonged bed rest, limited exercise, immobilization), antiepileptic drugs, hormonal and genetic factors can lead to significant bone loss. Diagnosis of osteoporosis includes densitometry and the study of biochemical markers to assess the state of bone mineralization at the time of the examination. However, densitometry in patients with cerebral palsy may present certain difficulties. Purpose is to determine changes in the content of bone tissue metabolism markers in CP patients depending on the severity of movement disorders. Materials and methods. We examined 32 CP patients aged 2 to 15 years for 3 months who were in rehabilitation in 2019-2021. The patients were divided into 2 groups: 18 children in the main group with motor dysfunctions of level IV-V and 14 children in the comparisons group - with disorders of I-III levels. All children underwent an analysis of anthropometric parameters using the program “WHO AnthroPlus (2009)”, determination of the blood levels of biochemical markers of bone tissue metabolism: calcium, phosphorus, alkaline phosphatase, osteocalcin, vitamin D, parathyroid hormone, bone resorption marker β-CrossLaps. Results. The indices of alkaline phosphatase, calcium and phosphorus in the majority of CP patients (88%) were within the reference values. The average concentrations of these compounds did not differ significantly in CP patients in the main group and the comparison group, including between children who received and did not receive antiepileptic drugs. There were no significant differences in 25(OH)D concentrations in patients of these groups. CP patients from the main group were found to be supplemented with vitamin D less frequently than children from the comparison group. Indicators of bone tissue resorption (β-CrossLaps) in patients with cerebral palsy increased significantly more than in patients of the comparison group, which indicates a pronounced loss of bone mass in severe impairment of motor functions. More than half of CP patients have high values of the bone resorption marker β-CrossLaps, which, together with an increase in the level of osteocalcin, indicates active osteoreparation, which is higher in children with severe motor disorders. At the same time, a close correlation (r = 0.596; p < 0.05) between the levels of osteocalcin and β-CrossLaps in patients may indicate activation of bone tissue repair in response to pronounced resorption. However, it should be noted that the determination of biomarkers of bone tissue metabolism in children with cerebral palsy is not indicative in the detection of osteopenia and osteoporosis due to the characteristics of these patients: reduced motor activity, growth retardation and psychophysical development.

Background. Currently, in the Russian Federation, the criteria for establishing disability do not take into account the assessment of the quality of life, while in developed countries this indicator is a mandatory component of examination programs and evaluation of the effectiveness of treatment and rehabilitation. In Russian pediatrics, research on the development of indicators of the quality of life in children with chronic disabling diseases has begun, this work is a continuation of this direction. Aim. To assess the quality of life of disabled children with various somatic diseases using all the possibilities of the Health Utilities Index questionnaire. Material and methods. A survey of 213 patients aged 5 to 18 years with chronic diseases with the status of a disabled child and their legal representatives was conducted using the Russian version of the international general questionnaire Health Utilities Index. Statistical analysis was performed using the SPSS software package version 26.0. The KruskalWallis test and Dunn's posterior test were used. Results. During the study, multi-attribute utilitarian indices were developed for each group of children, which ranged from 0.670.3 (95% confidence interval 0.550.78) in patients with rheumatological diseases to 0.850.21 (95% confidence interval 0.790.91) in children with heart disease and statistically significantly (p 0.001) were lower than in healthy children (0.90.17; 95% confidence interval 0.870.92). The features of one-attribute utilitarian indices depending on the class of the disease have been established. An analysis of the level and degree of functioning disorders showed that the most common and frequent for children with disabilities in the studied groups were emotional disorders; problems associated with the presence of pain; disability caused by a sense of cognitive deficit. For the first time, to determine the categories of the severity of violations an approach according to a multi-attribute utilitarian index was used. Conclusion. The quality of life in children with disabilities, reduced compared to healthy peers, has nosological features; the most pronounced decrease in the quality of life was noted in children with skin diseases and rheumatological diseases.

ФГБОУ ВО «Удмуртский государственный университет»

Introduction. Cystic fibrosis (CF) is a hereditary, multisystem disease that is accompanied by numerous complications, which affects the quality of life (QOL) of patients, determining its duration and comfort. With an increase in the survival rate of CF patients, various concomitant diseases were identified, one of which is cystic fibrosis-associated (dependent) diabetes mellitus (CFDM). Traditionally, it is believed that CFDM worsens the patient’s QOL. To establish this, a questionnaire is conducted with validated questionnaires for children - Health Utilities Index (HUI). Objective: to determine the QOL in CF patients with disorders of carbohydrate metabolism. Materials and methods. There were surveyed sixty-four CF 5 to 18 year patients (Me = 13.59 years), including 42 girls and 22 boys. To diagnose disorders of carbohydrate metabolism, a standard oral glucose tolerance test (OGTT) was performed in all patients. According to OGTT data CF patients were divided into 3 groups: 1st - 25 cases without deteriorations of carbohydrate metabolism; 2nd - 25 children with prediabetes and 3rd - 14 CFDM patients on insulin therapy and without it. The assessment of the psychological state and development of CF patients with prediabetes and CFDM cases was carried out. The parameters of emotional well-being, attitude to the disease and adherence to treatment were studied. Results. The authors revealed no significant difference in the QOL in CF patients by all scales of the questionnaire. There was a tendency to decrease in QOL according to the overall score of the questionnaire (HUI3) in CF children with prediabetes (0.77 ± 0.18 units) compared with patients without carbohydrate metabolism disorders and CFDM patients (0.81 ± 0.14 units and 0.80 ± 0.14 units, respectively). In the emotional sphere, there is a tendency to decrease in QOL in patients with prediabetes and CFDM cases. The analysis of indices on separate scales revealed a more pronounced decrease in QOL on the emotion scale in CF patients with disorders of carbohydrate metabolism. CFDM patients are in a more severe psychological state than children with prediabetes. They are significantly more likely to experience psychophysical discomfort and tend to fixate on the symptoms of the disease (Fisher’s angular transformation criterion 3.11, p < 0.01). These patterns should be taken into account when analyzing the psycho-emotional state of a CF child for timely prevention and correction.