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Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.

Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder that increases the risk of cardiovascular disease. Currently, there is a sufficient amount of evidence that OSA increases the risk of cardiovascular diseases, but the mechanisms underlying the formation of these changes remain unclear. The use of Doppler ultrasound and functional stress tests in patients with OSA will make it possible to assess the state of the vascular wall and its changes during treatment. This method can be included in the examination program for patients with sleep-related breathing disorders.

The purpose of this studyis to evaluate the ability of L-tryptophan used in complex therapy of delayed psycho-speech development in children to influence the dynamics of cognitive performance.Materials and methods. The study included 80 children aged 3–7 years with delayed psycho-speech development (DPSD). The main group consisted of 37 children (25 male and 12 female), a control group – 43 patients (30 male and 13 female). Both groups of children were comparable in age, sex, degree of speech and cognitive impairment, and IQ level. Patients in the main group have taken standard therapy with L-tryptophan (25–50 mg per day depending on the age) supplement for 14 days. Control patients have taken standard therapy only. Psychodiagnostic tests at the entrance and exit of patients from this study was carried out for evaluation the dynamics of cognitive functions. All differences were considered significant at p < 0.05.Results. The study suggests that oral L-tryptophan intake selectively affects the dynamics of cognitive performance in children with DPSD. So, we studied pre- and post-treatment cognitive performance in both group patients and noted a significant improvement in the visual memory (p < 0.001) and an increase in thinking productivity (p < 0.001) in the tryptophan group versus similar indicators in the control group. Intergroup differences (p < 0.001 and p = 0.026, respectively, for the main and control groups) also found.Conclusion. Two-week L-tryptophan intake in complex therapy of DPSD in children can significantly improve the cognitive activity, and greatly increase both the effectiveness and sustainability of treatment outcomes, which will significantly reduce the time and frequency of hospitalization and financial costs for the rehabilitation of this patients.

Electroencephalography was performed in 7-8- and 9-10-year-old pupils. Control group consisted of healthy children; experimental group consisted of children without signs of grade IV and V sinus arrhythmia at the age of 7-8 years, but with grade IV and V sinus arrhythmia at the age of 9-10 years. In primary school-aged children (7-8 years), manifestation of marked sinus arrhythmia is associated with disturbances in age-specifi c dynamics of interhemispheric interaction and with the formation, at the initial stage, of a rigid integrated system primarily due to functional intrahemispheric connections, the major contribution being made by the posterior associative cortical areas.