Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor primaryand secondary prevention, genetic counseling and family planning. Modern methods of prenatal and preimplantation DNA diagnostics significantly reduce the likelihood of havinga sickchild. At the same time, neonatal and selective screening of newborns and young children makes it possible to diagnose hereditary neurological diseases as early as possible and to start pathogenetic therapy, which is currently available for a number of pathologies. The widespreadintroduction of biochemical and molecular diagnostics of the hereditary neurological diseases in patients of various ages, including modern methods of massive parallel sequencing, gives rise to technological, ethical and financial problems.

The review presents data on the biological significance of plasmalogens, their synthesis in peroxisomes, subsequent transformation cascade, and the relevance of their role in the pathogenesis of a number of diseases. Plasmalogens, being a unique subclass of glycerophospholipids,play the role of structural proteins, signaling molecules, antioxidants. Deficiency of plasmalogens is known in genetically determined peroxisomal diseases – Refsum’s disease, rhizomelic point chondrodysplasia, Zellweger’s disease, etc. A number of age-related neurodegenerative diseases (Alzheimer’s, Parkinson’s) are also characterized by a decrease in the level of plasmalogens due to impaired synthesis and / or acceleration of their biodegradation. Along with the endogenous reasons for the decrease in the level of plasmalogens the authors consider the mechanism of their insufficient synthesis by anaerobes of the intestinal microbiota. These findings reinforce the clinicalrelevanceof the microbiota-gut-brain axis. Many companies allover the world develop drugs and biologically active additives (dietary supplements) with a high content of plasmalogens, being adsorbedin the small intestine and entering the targettissues and organs. The authors emphasizethe prospects of studying metabolites of intestinal microorganisms, directly or indirectly affecting developmental disorders in children, in particular, autism spectrum diseases.

The problem of chronickidney disease is one of the urgent problems in nephrology. There is data on the multifaceted participation of cytokines in the development and prognosis of pathological conditions. The recent studies are focusedon the mechanismsoflocal inflammation with the analysis of interleukins level in the urine. Cytokines are mediators between nonspecific defense reactions and specificimmunity. Being synthesized in the focus of inflammation, cytokines influence almost all cells involvedin inflammation. In case of local defense failure, cytokines enterthe circulation and act at the systemic level, developing an acutephaseresponse in the body. The review presents data on the cytokine status in chronic kidney disease in children and its rolein the progression oft he disease. The authors emphasize the scientific and practical significance of studies of the cytokine status in chronic kidney diseases.

Otitis media, including exudative otitis, is one of the most common childhood diseases. Almost asymptomatic course in children of early and preschool age leads to undiagnosed hearing loss. In such cases the minimal auditory deficit significantly affects the auditory-speech development and the formation of higher cortical functions in children. It is pediatricians who are the first to deal with the manifestations of exudative otitis media. Consequently, their knowledge and understanding of the disease, including the most common causes and risk factors, is important. The first part of the literature review considers the theories of the exudative otitis media formation, the role of viral and bacterial flora in the development of the disease, the effect of obstruction of the auditory tube against the background of nasopharyngeal neoplasms, craniofacial anomalies (including chromosomal aberrations), allergic diseases, rhinosinusitis and adenoiditis.

Objective. To study the course of early neonatal adaptation depending on the anesthetic aid in abdominaldelivery of pregnant women with severe preeclampsia. Characteristic o fchildren and research methods. Thea uthorscarried outaprospective cohort study o f342 childrenborn from mothers with severepreeclampsia. The children were grouped according to their gestationalage. The author sanalyzed perinatallosse sand assessed  general condition according to the Apgarscaleat the 1st and 5th minutes of life, aswell as the neurological status of newborns according to the NACS scale at the 15thminute of life and in 2 hours depending on the anesthesia method used during the caesareansection.

Results. The authors found that the newborns from mothers with severe preeclampsia, starting from the 34th week of gestation, demonstrated a significantly more pronounced negative effect of total intravenous anesthesia on their somatic (birth in a state of hypoxia) and neurological status as compared with spinalanesthesia (р<0,05). ><0,05).

Conclusion. The results are of practical value to neonatologists, as total intravenous anesthesia is expectedto causethe revealed violations of the adaptive ability of newborns and the doctor is able to provide adequate timely assistance to children.

Objective. To assess the correlation between the hemodynamic characteristics of the left ventricle and geometric features of the aortic arch in the fetus.

Methods. The study involved 31 fetuses from 29 to 34 weeks of gestation by echocardiography. The scientists assessed the morphogeometric characteristics of the left ventricle andaortic arch. They studied the following parameters: end-diastolic volume ofthe left ventricle (LVEDV), stroke volume of the leftventricle (LVSV), velocity-time integral of the flow through aortic valve (VTI AV), diameter of the aortic valve ring (AV), diameterof the aortic arch segment between brachiocephalic trunk and left carotid artery (dС).

Results. The average gestational age was 31,9±1,4weeks (95% CI: 31,4–32,4 weeks). Average body weight 1899±377 g (95% CI: 1762–2038 g). LVEDV = 1,57±0,64 ml (95% CI: 1,3–1,8). LVSV = 1,3±0,45 ml (95% CI: 1,1–1,4 ml). AV 0,4±0,07 cm (95% CI: 0,39–0,44 cm). C segment of the aorticarc is 0,37±0,07 cm (95% CI: 0,035–0,040 cm). There was direct correlation between the variables used to calculate dC (Pearson correlation coefficient: LVEDV = 0,51; p=0,002; LVSV = 0,46; p=0,005; AV = 0,52, p=0,001). The diameter of the C segment of the aortic arch can be calculated using the following equations: dС= 0,76· LVSV +2,8 (95% CI LVSV 0,2–1,3 95% CI for constant2,1–3,6; Fisher’s criterion 7,6 р=0,01). dС= 0,59· LVEDV +2,8 (95% CI LVEDV 0,2–0,98; 95% CI for constant 2,2–3,5; Fisher’s criterion 10 р=0,004). dС= 0,59·AV+1,3 (95% CI AV 0,22–0,95; 95% CI for constant – 0,23–2,9; Fisher’s criterion 10,7;р=0,003).

Conclusion. 1)hemodynamic characteristics of the left ventricle allow predicting the sizeof the aortic arch in fetuses from 29 to 34 weeks of gestation; 2)morphogeometric characteristics of the aortic arch are determined by the characteristics of the left ventricular stroke volume, end-diastolicvolume of the leftventricleand the sizeof the fibrous ring of the aortic valve.

To assess endothelial function in the newborns born to mothers with preeclampsia and without preeclampsia the scientists assessed the content of nitricoxide and hydrogen sulfide in the umbilical and venous blood of these children. The main group consisted of 80 women with moderate preeclampsia and their80 newborns; the control group included 50 children born to women without preeclampsia. The authors studied the content of nitric oxide by determining the totalnitrates and nitrites (NO_x), hydrogen sulfide in mixed cord blood collected within 30 minutes after delivery, and venous blood taken from newborns on the 1-3rd day of life. Umbilical cord blood demonstrated no significant differences in the content of NO xand hydrogen sulfide in newborns of the main and control groups. However, in general, the study of umbilical cord blood revealed a relationship between the concentration of hydrogen sulfide and the possibility of developing intraventricular hemorrhagein a newborn of the main and control groups. In the venous blood there was a significant increase in the content of NO_x and hydrogen sulfide in newborns born to mothers with preeclampsia. It may cause vasodilation asa compensatory reaction of the body during the period of postnatal adaptation of the child’s body, aimed at life support.

Protein-induced enteropathyis a common manifestation of gastrointestinal food allergy in young children. Non-invasive diagnostic methods are especially relevant for the timely diagnosis and prevention of exacerbations.

Objective. To evaluate serum, fecal and urinal levels of the intestinal fraction of fatty acids-binding proteins in children with protein-induced enteropathy and their clinical and diagnostic significance.

Material and methods. The authors examined 29 children with protein-induced enteropathy aged from 1,5 to 12 months and 20 healthy children (control group). For differential diagnosis with congenital diseases of the gastrointestinal tract, all patients underwent esophagogastroduodenoscopy with morphological examination of biopsies. The Cow’s Milk-related Symptom Score (CoMMiS) was used to assess clinical symptoms. In all children, the intestinal fraction of the protein binding fatty acids (I-FABP) was determined in blood serum, urine, coprofiltrate byenzyme-linked immunosorbent assay.

Results. The scientists found an increase in the protein level in the blood 125,20±23,79 pg/ml, in coprofiltrate 0,36±0,05 ng/ml, in urine 0,164±0,031 pg/ml compared with those in the control group (19,21±4,94pg/ml, 0,18±0,02 ng/ml and 0,039±4,62 pg/ ml, respectively; p<0,05). The authors found direct strong relationship between the degreeof morphological changes, clinical severity of gastrointestinal manifestations and the concentration of fatty acid binding protein in serum and urine, moderate relationship with the indicators in coprofiltrate (p<0,05).

Conclusion. An increase in serum, fecal and urinal levels of I-FABP in children with protein-induced enteropathy confirms the clinical and diagnostic significance of this biomarker in all biological fluids. Its high sensitivity and specificity of determination in urine is promising for pediatric practice.

Objective. To analyze the natural course of type 1 spinal muscular atrophy in children with the onset of the disease up to 6 months in the Russian population.

Material and methods. The retrospective multicenter study included data of 54 children with an established diagnosis of type 1 spinal muscular atrophy who did not receive therapy with nusinersen, risdiplam, branaplam, onasemogen abeparvovec-xioi, or other anti-sense oligonucleotides / selective SMN2 splicing modifiers or genetherapy drugs for SMN1 genetransduction. Basedon medical records, the scientists have collected all available information on the health status of children, the need for respiratory support and death or start of long-term mechanical ventilation.

Results. The median time from birth to the onset of the combined event (death or initiation of long-term respiratory support), determined using the Kaplan-Meier method, was 365 [269; 409] days (12 months). The date of death was known in 22 out of 54 children. The median age of death was 301,5 [181; 375] days (9,9 months). The initiation date of long-term respiratory support was known in 15 of 54 patients, the median was 180 [91; 276] days (5,9 months). Both the start date of long-term respiratory support and the date of death were known in 5 of 54 children; whileit was found that the median time from the initiation of long-term respiratory support to death in these children was 361 [135; 619] day (11,87 months).In a subgroup of 32 children with available date of initiation of long-term respiratory support and / or the date of death, the median time from birth to the combined event was 245,5 [173; 331] days (8,07 months).

Conclusion. In the course of a retrospective study, the authors obtained the information on the date of the onset of constant respiratory support and the date of death from the date of birth in the absence of pathogenetic treatment in children with type 1 spinal muscular atrophy. The data obtained in the Russian population are comparable with the published international data. This information can be useful for additional assessment of the health status of patients who received drugs affecting the level of SMN protein in the body, as well as reference data for the development of new approaches to therapy.

Despite significant achievements in oncopediatrics there is an increasing amount of children with remote consequences of anticancer treatment. Nutritional disorders are one of the key consequences, the main factors of which are taste disorders. Despite the interest in this issue, an increase in the number of studies, the exact genesis and causal relationships of these violations have not yet been established.

Objective. To study the characteristics of taste perception in children with hemoblastosis and CNS tumors after treatment. Material and methods. The authors carried out a cross-sectional study, which included 110 children with hematological malignancies (42 patients) and CNS tumors (68 patients) aged from 10 to 17 years. The after – treatment period was 2–5 years. They analyzed the nutritional screening data (body mass index and survey data). A test for the identification of four tastes (sour, bitter, salty, sweet) was carried out with the solutions in a regulated concentration according to the standard GOST ISO 3972-2014.

Results. The majority of children had violations of taste: to bitter taste – 64,6%, sweet – 40%, sour – 43,7%, salty – 33,6%. Children with hemoblastosis had more disorders.Parageusia was more common in children with CNS tumors. Obese children have a greater proportion of these disorders compared to children with malnutrition and normal nutritional status. There is no relationship with the frequency of food intake, its regularity andappetite.

Conclusion. The authors have confirmed the presence of nutritional disorders and problems with taste perception that persist for a long time after the end of treatment. Apparently, a significant part of them has a peripheral genesis.

The relevance of the study is conditioned by the need to study the way of eating as a method of correct in geating disorders in adolescents.

Objective. To evaluate the correction potential of the nutrition method in adolescents with eating disorders by alimentary obesity type. Characteristic of children and research methods. At the first stage of the study the research sampling was based on the criteria for body mass index assessing in adolescents. The total size of the research sample was 69 adolescents aged13–16 years with alimentary obesity. The group was equalized by gender. At the second stage, the adolescents were surveyed to assess the rules for the use and content of food consumed, including energy value. At the third stage, all patients were divided into three research groups, two groups had a separate program for the correction of eating disorders, taking in to account the measured parameters.

Results. The study confirmed the effectiveness of the nutritional disorders method by changing the eating rules and using object-mediated consumption of food (using cutlery – forks, knives, sticks). At the same time, the content, volume and frequency of food intake were preserved. The average weight loss with an indirect way of eating was up to 2 kg per week. In addition, they recorded a decrease in body mass index. The time of food intake significantly increased, which affects the control of the amount of food consumed, transferring eating actions from an involuntary level with a lack of fixation on taste sensations to an arbitrary one.

Conclusion. The technique is recommended for use as part of the eating disorders correction, since it can be easily integrated into any methodological complex and has no contraindications.

Health status of the younger generation in Russia is of particular relevance, since it is this period that forms the development potential of future generations.

Objective. To study and analyze regional features of the incidence rates of the adolescent population in Russia.

Material and methods. The authors have used various literature sources, statistical reports; the method of studying and generalizing experience. For the statistical analysis of the morbidity dynamics they used the indicators of absolute and relative growth, they assessed the chain and basic growth rates. Also the authors generalized the characteristic of the incidence dynamics by means of regression analysis.

Results. The paper provides a detailed analysis of the incidence of the adolescent population in the Russian Federation in 2012–2018. It describes the dynamics and structure of both primary and general morbidity, identifies classes of diseases with a stable trend of growth, and compares with similar indicators in other countries; the authors analyze the regional characteristics of the incidence of adolescents; compare the level of morbidity in the Russian Federation for all classes of diseases.

Conclusion. The authors revealed classes of diseases, characterized by a stable increase in indicators of both primary and general morbidity: neoplasms, endocrine diseases (obesity), eye diseases, injuries. Thus, the article identifies the directions for the health care system that require special attention and development of specific measures to reduce the level of these diseases. The results of the study demonstrate a low medical activity of adolescents, which should be taken into account when developing a set of measures aimed at increasing the coverage of adolescents with medical examinations.

Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

Autoimmune hepatitis is a chronic inflammatory liver disease of unknown etiology; the prevalence of juvenile autoimmune hepatitis is unknown. Autoimmune hepatitis occurs in 10–20% of patients with type 1 autoimmune polyendocrine syndrome, a rare (orphan) disease, which is characterized by a clinical triad in 70–100% of cases: chronic mucocutaneous candidiasis, hypopara thy roidismand adrenal insufficiency, as well as more 25 possible autoimmune endocrine and non-endocrine manifestations.

Thisstudy describes a case of a 5-year-old girl with autoimmune hepatitis as the first clinical manifestation of the disease. The symptoms of chronic mucocutaneous candidiasis enabled us to suggest and genetically confirm the diagnosis of autoimmune poly endocrine syndrome type 1 before the lesions of endocrine organs. The girl had nonsense mutations R257 * and p.Q94* of the AIRE gene in a compound heterozygous state. Later, there appeared another autoimmune disorder – common vitiligo.

Timelydiagnosisoftype1autoimmunepolyendocrinesyndromeinachildwiththefirstnon-endocrine autoimmune manifestation, initiation of therapy and further medical management made it possible to preventseve recomplications and improve the patient’s quality of life.

The article describes a clinical case of enzyme replacement therapy (ERT) with elosulfase alfa for a teenager with mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome). Treatment was started quite late, at the age of 12, against the background of a severe course of Morquio A syndrome. Nevertheless, the child showedan improvement in enduranceand fine motor skills, and an increase in muscle tone. The article discusses lack of information on modern methods of enzymereplacement therapy, as well as the limitations of this type of therapy. The paper emphasizes the need for an interdisciplinary approach to treat such diseases and alleviate the condition of patients.

Familial homozygous hypercholesterolemia is a rare life-threatening disease, the prevalence is 1: 160,000-1: 320,000. The main manifestation of the disease is an extremely high level of low-density lipoprotein cholesterol (more than 13 mmol / l), which causes early atherosclerotic vascular lesions, including coronary arteries, starting from the first decade of life, and can lead to myocardial infarction in childhood. Familial homozygous hypercholesterolemia remains a little-known disease in the clinical practice of the pediatrician; it leads to delayed diagnosis and late initiation of therapy. The most common cause of the disease is mutations in the LDLR (90%) gene, less often in the APOB (5–10%), PCSK9 (1%), LDLRAP1 (1%) genes. The article presents the criteria for the diagnosis of familial homozygous hypercholesterolemia in children. The authors discuss clinical manifestations on the skin and at the level of the cardiovascular system, eyes. They present the strategy of management and the possibilities of treating patients. The paper presents the indications for the appointment and the effectiveness of statins, ezetrol, monoclonal antibodies to PCSK9, apheresis for the treatment of the disease. It discusses prospects for further therapy.

Speech and language are the most important means of communication between a child and the outer world. Currently in the Russian Federation there is no reliable data on the prevalence of speech and language disorders in children. According to foreign authors, speech disorders are diagnosed in 3,4–6,4% in the population of preschool children, and language disorders are diagnosed in 8–10% of cases. Early identification of the causes of speech and language development disorders in children is a complex interdisciplinary problem. The authors have developed an algorithm for diagnosing speech and language developmental disorders in preschool children, where the district pediatrician plays the leading role. It is district pediatrician who can assess the speed of the child’s speech skills development, based on age norms, analyze the history data, risk factors, carry out a physical examination of the child, develop an individual program for conducting basic laboratory and instrumental studies and consult specialists. Dynamic observation of this category of children is important.

The frequency of underweight in children with cerebral palsy is about 60–70%. A benefit of nutritional support in children with cerebral palsy are underestimated. The use of nutritional support during active physical rehabilitation can have a positive effect on not only body weight, but also the component composition of the body and their rehabilitation potential.

The aim of our study was to evaluate the effectiveness of nutritional support – a hypercaloric (1,5 kcal/ml) polymer formula with fibers (Pediashure 1,5 Fiber, Abbott) in children with cerebral palsy.

Characteristics of children and research methods. Anthropometric indicators (body weight, height, body mass index, triceps skinfold thickness, subscapular skinfold thickness, mid-upper arm circumference, shoulder muscle circumference) and body composition were studied in 15 underweight children with cerebral palsy aged 4–10 years with the level of motor disorders GMFCSIII–IV. They were prescribed of nutritional support with a hyper caloric mixture (1,5kcal/ml) with fiber lasting 3months during active physical rehabilitation.

Results. Against the background of nutritional support, there was a significant increase in body weight, height, z-score of body weight, mainly due to musculoskeletal, active cell and lean mass. In addition to correcting the nutritional status of children with cerebral palsy, an improvement in their motor abilities was noted.

Posthemorrhagic hydrocephalus in newborns with ventricular occlusion leads to decompensation of CSF dynamics with a high risk of neurological disorders and child disability.

Objective. To improve the effectiveness of treatment of hydrocephalus in newborns.

Characteristics of children and research methods. The authors analyzed the treatment of hydrocephalus in 327 newborns in 2000– 2018. 184children (Group 1)underwent standard treatment with lumbar and ventricular punctures with 20-22G needles, and with progression of hydrocephalus – ventriculo-subgaleal drainage and ventriculo-peritoneal shunting. 143 children (Group 2) with ventricular occlusion underwentcomplex treatment with coronary-transluminal subarachnoventriculostomy (RF patent No. 2715535) and ventricular drainage with a ventriculo-subarachnoid stenting system (RF patent No. 2721455).

Results. The effectiveness of treatment with the inclusion of the proposed options is improvedby eliminatingocclusion, restoring circulation and absorption of cerebrospinal fluid, prolonged sanitation of cerebrospinal fluid with isotonic sodium chloridesolution. A positive result with compensation for hydrocephalus was achievedin 75,4% of cases versus 28,2% with the «standard» protocol (p <0,001).Compensation of hydrocephalus was accompanied by regression of hypertensive symptoms, stabilization of the ventricular size. The authors demonstrate a decrease in the timethe child spent in the hospital after surgery to 3-6 weeks with dynamic observation after discharge in the follow-up room, neurovisual monitoring.>

Conclusion. The data obtained allowus to consider the effectiveness of the inclusion of the proposed options in the modern algorithm for the treatment of hydrocephalus in newborns, to expand the possibilities for early rehabilitation and restorative treatment together with pediatricneurologists and doctors of related specialties.

Many studies demonstrate an increase in the number of diseases, the development of which can be influenced by poor nutrition in school-age children.

Purpose. To improve the prevention of children’s health disorders by developing an algorithm for the optimal qualitative and quantitative composition of school meals based on the identified deficiencies in the nutrition of schoolchildren of three educational school sin Cheboksary.

Methods. 212parents of pupils of the 3-4th grades and 248 pupils, 182 parents of pupils of the 10-11 grades and 220 children in these classes were anonymously surveyed in education schools in Cheboksary.

Results. Analysis of the nutritional quality of children showed that more than 90% of both junior and senior schoolchildren consume baked goods, meat dishes, cereals, soups, fruits and vegetables every day or several times a week. About 50% or more of children of both groups consume milk and sour-milk drinks, eggs, cottage cheese, fish dishes every day or several times a week. The meal regimen is more accurately followed in the primary school group. Parents of the junior and senior pupils are unanimous in their opinion about the need to teach children in school the principles of proper nutrition (96,4%).

Conclusion. The authors advise to conduct educational work among children and their parents on the formation of healthy nutrition culture. Pedagogical and medical workers of the educational institution, nutritional specialists among the parents can be involved for the implementation of educational activities.

At the final stage of the Great Patriotic War and in the first post-war years in the USSR, a large-scale restoration and expansion of the nursery network was carried out. However, in war time conditions, nursery construction was short of the necessary material and human resources, which significantly hampered the operation of the nursery as a medical institution. Despite the challenges, the nursery network has played an important role in protecting the health of young children. The article reflects the contribution of pediatric scientific institutions to nursery construction.