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Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in order to prevent difficult complications of the desease and patient’s disablement.Aim: Analisys of the frequency of CAH case rate within children in the Republic of Tatarstan (RT) after neonatal screening and also prevalence rate of different clinic forms of empairments and types of gene CYP21A2’s mutations.Methods: Reports of the results of CAH screening by medicogenetic service in RT were analysed. Information about children born, detected cases of CAH was taken from statistic form № 12 “Information on the number of diseases, detected within patient residing in the service area of medical organization, Rosstat” during 2006–2018yrs. Materials for analysis of health clinic of children’s CAH were case histories of patient, observed in endocrinology department of GAUZ “Republican children clinic hospital” Ministry of Health of The Republic of Tatarstan (DRKB MZ RT). Molecular-genetic researches were conducted on the basis of Federal state budgetary institution “National medical center for endocrinology” of the Russian ministry of Health. (FGBU “NMIC of endocrinology) of The Russian ministry of Health) with the support of “Alfa Endo” program CAF charity foundation.Results: During 2007–2017 yrs. according to the results of neonatal screening 32 children with CAH were detected. The case rate ranged from 1:5054 to 1:56 598 newborn. The maximum of the disease case in RT was detected in 2016 (11 children). With 24 children molecular-genetic analysis was conducted, as a result 24 gene CYP21A2’s mutations were detected in homo- and heterozygotic state. The most widely spread mutation turned to be 12spl, which was found in 45,8% of cases.Conclusion: Conducted analysis confirms the necessity of the further study of the CAH case rate distinctions in different areas and cities of RT, and also upgrade of the organization and performance of the neonatal screening.

Background. Perinatal pathology of the nervous system (PPNS) of hypoxic genesis is one of the most significant causes of deviations in mental development. It is necessary to investigate the impact of mild PPNS for the child's mental ontogenesis, because coarser perinatal lesions, as a rule, lead to significant violations of development and should be analyzed separately. From our point of view, the qualitative neuropsychological syndromic analysis adopted in Russian child neuropsychology is the most productive way to study this problem.Objective. The purpose of this study was to conduct neuropsychological analysis of the features of mental development of school-age children with mild hypoxic PPNS in their anamnesis.Design. Our research involved 62 children 10-12.5 years old, who were studying in comprehensive schools in Moscow. The main group was comprised of 42 neurologically healthy children who had hypoxic-ischemic encephalopathy of mild severity in their anamnesis. The control group was comprised of 20 neurologically healthy children without indication of pathology of pregnancy and labor in their anamnesis.Methods. We used neuropsychological Luria tests that have been adapted for children, conducted an interview of parents and teachers about the peculiarities of children's behavior, and analyzed electroencephalogram reports.Results. Every child with PPNS exhibited similar features, such as neurodynamic disorders and a lack of voluntary control. We called this symptom complex "subcorticalfrontal" neuropsychological syndrome. In addition, each child in the main group had a failure of at least one neuropsychological factor. The following functions showed insufficiency most often: voluntary attention, speech development, verbal-auditory memory, kinetic and kinesthetic praxis, visual-spatial gnosis, and phonemic hearing. Left hemisphere functions and interhemispheric interaction suffered to a greater degree. The children with PPNS were divided into two subgroups, depending on the severity of the insufficiency of executive functions (EF). Children with severe insufficiency of EF more Neuropsychological analysis of the features of mental development… 29 frequently demonstrated violation of development of verbal-logical thinking, difficulties in social adaptation, emotional disorders, and deviant behavior.Conclusion. The mental development of school-age children with mild PPNS in their anamnesis differs from the development of their peers. We can talk about the longterm consequences of mild hypoxic perinatal damage of the nervous system.Abbreviations. PPNS -perinatal pathology of the nervous system; CNS -central nervous system; EEG -electroencephalogram; EF -executive functions.