The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories. Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up. Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy. Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.

В роботі подані результати використання тренажерних пристроїв Гросса і МОТОmed gracile12 в реабілітації дітей із різними формами дитячого церебрального паралічу (ДЦП), формуванні й розвитку основних рухових навичок, підвищенні фізичної підготовленості та витривалості. Відновлювальне лікування дитини з ДЦП проводилось з урахуванням індивідуальних можливостей і потреб. У реабілітаційній програмі використовували метод чергування занять на тренажерах. Терапія базувалася на ігрових формах. Реабілітація адаптувалась до індивідуального рівня розвитку дитини, робився акцент на її сильні сторони та потреби. Використовувалися поєднані режими пасивного, активного й комбінованого тренування. Завдяки впровадженню методики використання тренажерних пристроїв Гросса і МОТОmed gracile12 в комплексну реабілітацію дітей із ДЦП збільшився загальний рівень рухової активності та маніпулятивної діяльності, досягнуті результати зберігалися тривалий час.

Introduction. Inborn Errors of Metabolism (IEM) are constituted a group of genetic diseases that are associated with defects in the synthesis or catabolism of complex molecules, impaired intermediary metabolism and energy production/utilization processes. The clinical manifestation of IEM is nonspecific, that looks similar to septicemia, and most often occurs in the neonatal period with life-threatening acute metabolic crises. Expanded Newborn Screening (ENS) – a biochemical study of the blood of all newborns without exception with the purpose to identify molecular markers of these diseases proved to be the most effective instrument of early IEM diagnostics. The quality of the biological samples (dried blood spots, DBS) in great extent determines the timing, accuracy, and reliability of the results of biochemical measurements. Obtaining of equivocal results in the case of analysis of poor quality DBS requires repeated laboratory tests, that delays the diagnostic process and postpones the start of specific treatment, which usually results in irreversible damage of the brain and internal organs of the child. The aim of this work is to (i) review the first results of the implementation of Expanded Newborn Screening in Ukraine (pilot part of the Baby Screen Project), and to analyze literature data regarding the negative impact of poor quality DBS on laboratory determination of IEM marker substances contents in the specimens, (ii) to characterize the typical errors in blood sampling and drying of  blood spots, and (iii) to provide practical recommendations for the proper performance of these procedures. Materials and methods. Own data of retrospective analysis of the questionable ENS results was superimposed with dried blood specimens, that were investigated in the Pharmbiotest ENS Lab to outline most common inaccuracies. Based on the comparison of these data with the relevant publications it was formulated the practical recommendations for improving quality of DBS preparation to ensure the accuracy and reliability of laboratory measurements and speed up IEM diagnostics. Results. The quality of biomaterial selection is an important part of obtaining reliable results during expanded newborn screening. Capillary blood is collected in the maternity hospital from 48-72 hours (full-term) and for 7-11 days (in preterm babies) after the birth from the heel of babies. In this case, a few drops of blood are applied to a special test card made of filter paper, which is dried and sent to the laboratory. Blood tests are performed using a highly sensitive and accurate method of chemical analysis - tandem mass spectrometry in the laboratory "Pharmbiotest", located in Ukraine. Taking into analysis the low-quality samples lead to questionable results, which requires repeated DBS sampling and re-examining. This proved to be the most common cause of delaying IEM detection, diagnosis establishment, and initiation of treatment, which can be fatal for a child with severe IEM forms. Conclusions. Informing healthcare professionals and parents about the current results of laboratory monitoring of dried blood spots quality, typical errors in blood sampling and following on-site procedures and negative consequences of its improper performance, as well as providing clear practical recommendations of how these procedures should be done is a proven way of improving and speeding up IEM diagnostics.

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