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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.

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.

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.

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.

Introduction. Currently widely adopted benchmarks of normal levels of cystatin in blood and of GFR based on those levels in young children are non-existent. Objective: to determine the content of cystatin C in the blood and the glomerular filtration rate based on it in young children. Materials and methods. Two hundred thirty seven infants aged up 3 years without kidney diseases were examined and divided into subgroups by age, degree of maturity and birth weight. The serum cystatin C was studied by enzyme-immunoassay, GFR was calculated according to Larsson’s formula. Results. Normal levels of serum cystatin C and GFR levels were determined in young children with Larsson’s formula. The dependency of the serum level of cystatin C and GFR calculated on the basis of the age of the infant was proved. The serum cystatin C level depends on the degree of prematurity and body weight at birth. The level of GFR was not influenced by the degree of prematurity, however, infants born with extremely low body weight exhibited lower GFR levels in comparison to those born with normal body weight. Conclusion. The obtained serum cystatin C levels are deemed as normal for young children - full-term infants and those with varying degrees of prematurity.

Introduction. Hepatobiliary pathology (HBP) occurs in approximately 30% of patients with inflammatory bowel disease (IBD). However, the features of its course in the pediatric cohort of patients remain insufficiently studied. Purpose: to study the features of the course of autoimmune forms of HBD in children with IBD. Materials and methods. A comprehensive clinical, laboratory and instrumental examination was carried out in 84 children with autoimmune forms of HBP in combination with IBD (HBP+IBD), which made up the main group, and 79 patients with isolated forms of IBD included in the comparison group. Results. The prevalence of autoimmune HBP in IBD children was 10.2%. Primary sclerosing cholangitis (PSC) was diagnosed in 64.3% of cases, which was mainly associated with ulcerative colitis. The incidence of autoimmune hepatitis (AIH) was 8.3%. In the structure of the overlap syndrome, the most frequent combination was AIH+PSC (15.5%). The debut of the disease was manifested by diarrhea, abdominal pain syndrome, cytolysis and cholestasis syndromes, haemicolitis. With HBP+IBD, there was an increase in serum concentrations of alanine (ALT) and aspartate aminotransferases (AST), total protein, γ-glutamyl transferase (GGT), alkaline phosphatase, direct bilirubin and IgG. Approximately with the same frequency in PSC, antibodies to saccharomycetes (ASCA) - 80% and antibodies to the cytoplasm of neutrophils (ANCA) - 75% were detected. In AIH, antinuclear antibodies (ANA) and antibodies to liver and kidney microsomes (anti-LKM1) were detected in 100%. HBP-IBD equally (28.6%) revealed moderate fibrosis and cirrhosis, no fibrosis in 20.6%, moderate fibrosis in 15.9% of cases, mild fibrosis in 6,3%. Cirrhosis of the liver in 55.6% of cases was the outcome of the course of PSC, in 16.7% - AIH, in 27.8% was associated with the course of the overlap syndrome. Conclusion. Various forms of autoimmune HBP occur in 10.2% of cases, are more often associated with UC, are represented by PSC and AIH, occur in males, at the onset signs are clinically presented by diarrhea, abdominal pain syndrome, cytolysis and cholestasis syndromes, and haemicolitis.

Background. The approaches to the managing of nutrition for healthy children are not always applicable to patients with neurological disorders, since their body composition, muscle tone, level of physical activity, and energy requirements significantly differ from healthy children and, therefore, must be personalized with the mandatory involvement of a nutritionist/dietitian. The purpose is to assess nutrition in children with cerebral palsy (CP) depending on Gross Motor Function Classification System (GMFCS) level. Materials and methods. Eighty-eight 2 to 16 years nine months CP children rehabilitated at the National Medical Research Center for Children’s Health from 2019 to 2021 were included in this study. Participants were divided into two groups. The main group was patients with GMFCS levels IV-V (48 children) and the comparison group - GMFCS levels I-III (40 children). The medical and dietary history of participants was analyzed. Anthropometric parameters using the WHO AnthroPlus (2009) software were assessed in all participants, the ability to eat and drink was determined by questioning the EDACS scale (Eating and Drinking Ability Classification System). Results. The mean values of weight/age, height/age, BMI/age Z-scores were significantly below 0 (p = 0.01) in all patients (88): WAZ -1.54 ± 1.9, HAZ -1.03 ± 1.48, BAZ -1.5 [-3.11; -0.35]. Children of the main group had significantly lower Z-scores. As a result of the survey, patients of the main group were revealed to have indicators characterizing eating disorders significantly more often (p < 0.001) than the comparison group. EDACS survey revealed that children of the main group were significantly more likely (58% and 10%, respectively; p < 0.001) to have disorders corresponding to levels IV-V, characterized by significant safety restrictions. We have developed a nutritional assessment and management algorithm for children with cerebral palsy, admitted for rehabilitation at the neurological department. Conclusion. Children with cerebral palsy need regular nutritional assessment and management for timely and adequate nutritional support, including enteral nutrition.

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.

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.

Introduction. In patients with infantile cerebral palsy (CP), botulinum therapy is used to treat both muscle tone disorders and sialorrhea. Therefore, it is logical to use one preparation of botulinum toxin type A to treat spasticity and sialorrhea in one injection procedure. The aim of the work is to conduct a retrospective analysis of data from 15 centres that treat patients with cerebral palsy and use the botulinum therapy method to determine the optimal doses of IncobotulinumtoxinA (IBTA) for the treatment of spasticity and chronic sialorrhea in real clinical practice. Materials and methods. The treatment results of 389 children with cerebral palsy (including 211 (54.2%) boys) with IBTA were analyzed. The majority were children with bilateral forms of cerebral palsy - 312 (80.2%). The average age of the patients was 5.27 ± 3.71 years, the average weight of the patients was 18.8 ± 10.9 kg. Results. The total dose of IBTA in the group of 389 patients with cerebral palsy for the treatment of spasticity was 163.74 ± 80.65 U (25-550; 95% CI 155.7-171.7) and 10.4 ± 5.4 U/kg body weight (1,25-29.7; 95% CI 9.8-10.9). The total dose of IBTA in the group of patients with cerebral palsy with simultaneous treatment of spasticity and chronic sialorrhea (n = 16) was significantly higher: 267.18 ± 124.57 U (115-570; 95% CI 200.8-333.6) and 13, 0 ± 7.1 U/kg (5.8-24.6; 95% CI 9.2-16.8). In the lower extremities, the most frequent target muscles were the gastrocnemius (55.0% of cases; 95% CI 49.9-60.0) and semitendinosus / semimembranous muscle (46.3% of cases; 95% CI 41.2-51.4 ), and in the upper limbs - pronator teres (48.6% of cases; 95% CI 43.5-53.7) and biceps brachii (28.8% of cases; 95% CI 24.3-33.6). Limitations of the study. The limitations of our work are the use of an open retrospective study format, a relatively small sample of patients with chronic sialorrhea, the absence of long-term follow-up of patients and the results of repeated IBTA injections. Conclusion. If it is necessary to use botulinum therapy for the treatment of spasticity and sialorrhea in a child with CP, it is optimal to use the product IncobotulinumtoxinA, which will allow correction of two pathological manifestations in one procedure and can shorten the intervals between repeated injection cycles.

Introduction. The impact of prematurity on the functional state of the kidneys in infants has not yet been sufficiently studied. Aim. To determine the influence of birth weight and gestational age on the creatinine level in the blood and glomerular filtration rate (GFR) in early childhood. Materials and methods. A retrospective analysis was conducted on medical records of 316 children aged from 1 month to 1.5 years, hospitalized at the Department of Early Childhood Pathology (National Medical Research Center for Children’s Health, Moscow) from 2012 to 2020 due to consequences of perinatal CNS damage. Children without congenital kidney diseases, with normal urine values in medical history, without structural abnormalities on ultrasound were included in this study. Serum creatinine was determined by the enzymatic method, GFR - by the Schwartz’s formula using a coefficient of 0.413, as well as, previously proposed coefficients of 0.33 for premature and 0.44 for full-term infants. Results. In premature infants, notably born with extremely low birth weight and very low birth weight, at the age of 1 year, serum creatinine is reduced compared to full-term infants, GFR in deep-premature infants exceeds the level of GFR in full-term infants by the year. The results allow concluding the method of calculating GFR by formulas based on serum creatinine to be invalid. Due to possible hyperfiltration in preterm infants, they need regular monitoring urine tests, blood pressure, due to the risk of developing chronic kidney disease. Conclusions. It is necessary to search for other methods for determining GFR in extremely premature infants. The established indices of the blood creatinine content can be used as reference values for different periods of gestation and body weight at birth in institutions using the enzymatic method for determining blood creatinine. The obtained GFR indices as a reference can be recommended for full-term and premature babies born after 32 weeks of gestation and with a birth weight of more than 1500 g.

The aim is to identify parents’ (legal representatives’) satisfaction with the quality of medical care provided to their disabled children to improve this type of service further. Materials and methods. A sociological survey was conducted of 506 legal representatives of minors (aged from birth to 17 years) with the status of a disabled child. The study design is single-center, non-randomized, uncontrolled. Results. An analysis of the living conditions of a disabled child in the family, the parents’ assessment of his health status, the 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 position of this part of the child population in current legal and medical and social conditions. The main problems were the collection of a large number of documents when registering a disability, a long wait for the day of examination, the remoteness of the medical and social examination bureau, the lack of specialist doctors, problems with obtaining subsidized drugs, the lack of consideration of the individual needs of the child when conducting unique rehabilitation programs, the need to apply at the same time to various organizations and departments, violation of rights in the provision of medical services to a disabled child. Conclusion. The obtained information is very significant for further improving the provision of medical and social assistance to disabled children and children with disabilities. The main task today is to develop mechanisms for implementing the declared rights and freedoms of persons with disabilities, the obligations assumed by the State concerning them.

Introduction. Currently, there are still problems in the rehabilitation of children with chronic diseases and children with disabilities, as well as in the establishment of the disability itself, which is primarily due to the lack of common criteria for describing the health, functioning of the child’s body, their disorders at different ages and assessing the effectiveness of rehabilitation measures. Purpose. To develop criteria of functioning disturbance in children suffered from various chronic disabling diseases in terms of quality of life. Materials and methods. By means of the developed Russian-language version of the standardized international questionnaire (HUI) applicable for children’s age, 832 children at the age of 5-17 years were examined (healthy children, children with chronic disabling diseases and the children in need of palliative care). Results. For the first time, domestic pediatrics profiles of functioning disturbance with the use of HUI questionnaire in healthy and sick children are developed. Indices of healthy children can be used as standard criteria. Juvenile idiopathic arthritis patients were revealed to have functioning disturbances in almost all aspects, except sight, hearing, and speech. In children with the heart diseases followed by chronic heart failure, the capability to move, cognitive abilities are disturbed, emotional violations and a pain syndrome were noted. Patients with cystic fibrosis had functioning disturbance concerned emotions and pain. The most expressed disturbances on all aspects included in the HUI questionnaire, except hearing, are noted in disabled children needing palliative care. Conclusion. The data can be used for obtaining information of impact of the disease on the activity of a child, extent of functioning disturbance on this or that aspect of quality of life, for development and assessment of efficiency of individual rehabilitation programs.

Objectives To assess the influence of the genetically engineered biologic drug etanercept on the quality of life of patients with juvenile idiopathic arthritis (JIA). Methods The research included 85 children with poly-and oligoarticular variant of the JIA at the age of 5 (2; 17) years. The assessment of the quality of life of patients was carried out by means of the parental version of a special questionnaire CHAQ (Childhood Health Assessment Questionnaire), Health Utilities Index Mark 3 (HUI3) questionnaire. The doctor and parents of the patient also assessed the global activity of the illness by the 100-mm visual analog scale (VAS) before the etanercept prescription and in 1, 6 and 12 months. All patients before the etanercept prescription received immunosuppressive agents. Results Impressive increase in an average point of the quality of life (the response in 1 month after the therapy beginning) was noted by the attributes of a questionnaire of HUI3 «emotions» — from 0.82 (± 0.18) to 0.90 (± 0.13), p =0.001, «cognitive abilities» — from 0.85 (± 0.17) to 0.91 (± 0.18), p =0.006, and «pain» — from 0.78 (± 0.23) to 0.91 (± 0.1), p Conclusions Treatment with the etanercept provided the improvement of the quality of life of children with the JIA and their families, improvement of physical activity and emotional state of patients.

Introduction Health-related quality of life (HRQOL) is an important indicator of the health status of children. In the Russian Federation in children with inflammatory bowel disease (IBD), this aspect has not been studied enough, but these data may help in the choice of tactics for maintaining patients. Purpose of the study Rate HRQOL of children with IBD. Participants and methods 54 children with IBD were examined: 28 children (12 boys and 16 girls) with Crohn’s disease (CD) and 26 children (15 boys and 12 girls) with ulcerative colitis (UC). The median age was 15 years 4 months [13 years 1 month; 17 years 11 months]. The control group included 64 relatively healthy children, matched by age and sex. HRQOL was estimated using different age units of the children’s form of the overall PedsQL questionnaire on a scale from 0 to 100 points, according to the following aspects: ‘Physical Functioning’ (PF), ‘Emotional Functioning’ (EF), ‘Social Functioning’ (SocF), ‘School Functioning’ (SchF),’ Total Scale Score’ (TS). To describe the data we used the median, 25th and 75th percentiles. Comparison of two independent groups by quantitative traits was carried out using the non-parametric method using the Mann – Whitney U-test. Results When evaluating the indicators of HRQOL of patients with IBD and control group children, significant differences were obtained in the aspects of PF: 71.0 (58.25; 87.75) versus 87.0 (78.75; 93.0) points, p 0.05). Findings The study found significant differences in the form of lowering HRQOL in children with IBD of relatively healthy peers in almost all aspects, which must be considered when managing patients with this chronic pathology.

Background Registers are an effective tool for tracing the dynamics of patients with rare pathologies. Objective Our aim was to examine the demographic, clinical and genetic features of children with Gaucher disease in Russia. Methods We held a retrospective survey of the paediatric register data with regard to children suffering from Gaucher disease. The period of data accounting was from 2006 to 2016. Results: 115 children with Gaucher disease aged from 3 months to 17 years (the median age of diagnosis is 5 years) were registered; 62 of them (53.9%) are girls. The prevalence of the disease was 0.32 cases for 1 00 000 children. 95 (82,6%) children had Gaucher disease type 1; 6 (5.2%) — type 2 and 14 (12.2%) — type 3. The highest morbidity was in Central (27; 23,5%) and Volga (27; 23,5%) Federal Districts; and the least — in the Far East (3; 2.6%). At the time of diagnosis all the patients had splengomegaly. The genotype and phenotype correlations in 90 children with Gaucher disease were as follows: in case of type 1 (n=77) there are 21 (27.3%) patients with N370S/L444P genotype and 12 (15.6%) — N370S/other mutation; among 13 children with neuropathic forms (type 2 and type 3) there are 9 (62.9%) children with L444P/L444P genotype and 3 (23,1%) had L444P/D409H. The rest of genotypes were presented by other mutations, 13 of which were revealed for the first time. The p.W223R (p.W184R) mutation is specific for Russian patients. Enzyme replacement therapy was carried out for 109 patients (94,8%): in 105 (96,3%) children (Gaucher disease type 1 and type 3) with imiglucerase and in 4 (3.7%) children with type 1 — with velaglucerase alfa. Pathogenetic therapy stops the main symptoms in most patients. Conclusion The paediatric Gaucher disease registry allows to systemize the data concerning the disease course in children and optimising the approaches to its monitoring in Russia.

Background Pertussis is a highly contagious bacterial infection with a respiratory route of transmission. It remains an important public health problem in Russia and in the world. The only confirmed way of specific prevention of pertussis is vaccination. There is only one booster dose against pertussis at the age of 18 months with DTwP in Russia. This vaccine is not administered in children after 4 years of age due to its reactogenicity. The alternative way to the whole cell pertussis vaccination is the administration of DTaP, which can be used in older children. Aims to study tolerability of vaccines containing acellular pertussis after 4 years of age. Methods The retrospective study included the analysis of safety of DTaP vaccines in 123 children aged 4–9 years from 01.12.2014 to 31.12.2015. It included 62 healthy children, 30 with allergic diseases and 31 with other chronic diseases. Results In the post-vaccination period (3 days after the vaccination) local reactions were observed in 39 (32%) subjects, where 19 (31%) were healthy children, 11 (37%) – with allergic disease, 9 (29%) – with other pathology. Moreover, severe local reactions in the injection site occurred in 15% of subjects. Half of these children had different allergic diseases. Common reactions were observed in 25 (20%) children, where 11 (18%) were healthy, 6 (20%) – with allergic pathology and 8 (26%) children with other chronic diseases. Only 7% of the common reactions were considered severe. During the first week after the vaccination, no exacerbations of allergy or any other chronic diseases were observed. Conclusion A good tolerability of DTaP was demonstrated in children after 4 years of age in both healthy subjects and those having different chronic diseases. Apart from the children with allergic pathology who had severe local reactions more frequently, these two groups had no difference in the prevalence and severity of post-vaccination adverse reactions.