scholarly journals Updating preventive measures of children disability

Author(s):  
A. P. Fisenko ◽  
D. I. Zelinskaya ◽  
R. N. Terleckaya ◽  
I. V. Vinyarskaya

The article provides an overview of special literature, which gives an opportunity to redefine some issues of disability prevention in children with rare (orphan) diseases, which will improve the organizational measures in this area. The prevention of children’s disability is considered as a system of measures to protect the health of the mother and child throughout childhood. The early disability prevention system in children and support for families raising children with disabilities remain among the main priorities of the State social policy of the Russian Federation. The authors describe modern technologies for reducing the genetic burden in the population from the point of view of preventing hereditary and congenital pathologies. They identify the priority areas of disability prevention in children with rare (orphan) diseases, i.e. introduction of prenatal and preimplantation diagnostics; use of the Prenatal Consultation organizational model; conducting a wider screening for congenital and hereditary metabolic diseases with the inclusion of the most common nosological forms of rare (orphan) diseases; finding pathogenetic therapy methods; increasing the knowledge of pediatricians about rare (orphan) diseases.

2017 ◽  
Vol 72 (5) ◽  
pp. 375-382 ◽  
Author(s):  
A. A. Baranov ◽  
L. S. Namazova- Baranova ◽  
V. Yu. Albitsky ◽  
R. N. Terletskaya

Development of maternity and childhood protection service is one of the priorities of the Ministry of Health of the Russian Federation. The strategy for its development is included in the National plan of action for the benefit of children formulated according to the international documents on the rights of a child. The preservation of life and health of children under 5 years has been identified as an important strategic task for preserving life and health of the population as a whole. Tendencies of mortality in children under 5 years and infant mortality as a part of the data had been studied basing on the analysis of Federal State Statistics Service of the Russian Federation and World Bank data bases. It is shown that the reduction in mortality of children under 5 years occurred in all age periods. The level of infant mortality decreased significantly to the same extent due to neonatal and post-neonatal mortality. The leading causes for mortality in children under 5 years in general and infant mortality in particular are certain conditions originating in the perinatal period and congenital malformations which slow further reduction of the mortality in children in this age group. Significant reasons for death in children aged 1−4 years are injuries, poisonings, and oncologic diseases. The reserves of infant and child mortality reduction are found in implementation of prenatal and preimplantation diagnostics and «Prenatal consultation» organizational model; broader screening for congenital and hereditary metabolic diseases in the neonatal period including the most common nosological forms of rare (orphan) diseases; expansion of the National Vaccination Calendar; improvement of quality of prehospital medical care to children under the age of 1 year; further development of specialized, rehabilitative, and medical-social support.


PEDIATRICS ◽  
1967 ◽  
Vol 40 (2) ◽  
pp. 289-304
Author(s):  
CHARLES U. LOWE ◽  
DAVID BAIRD COURSIN ◽  
FELIX P. HEALD ◽  
MALCOLM A. HOLLIDAY ◽  
DONOUGH O'BRIEN ◽  
...  

THIRTEEN YEARS AGO a dietary approach to the therapy of phenylketonuria was proposed, and data on the usefulness as well as the very real limitations of this program have accumulated in the intervening years. At the present time studies on the application of special diets for use in this disease, as well as for many other hereditary metabolic diseases, are in progress. As wider use is made of procedures for detection of hereditary metabolic disease in the newborn, an increasingly larger number of patients who may benefit from appropriate nutritional therapy will be identified very early in life. For example, calculations based on the current birth rate and apparent incidence of phenylketonuria indicate that as many as 4,000 infants with this disorder in the United States alone could require dietary therapy in the next decade. There is, therefore, a need to evaluate the principles governing nutritional management of hereditary metabolic disease in order to develop optimal treatment facilities for use in conjunction with new detection methods. It seems anomalous that comparatively little has been done either to establish good treatment practices in hereditary metabolic disease or to mobilize scientific resources to ensure an optimistic out-come for therapeutic endeavors, while so much emphasis has been placed on detection. Dietary treatment of hereditary metabolic disease is simple in theory; however, practical application may be unexpectedly difficult, or even hazardous, if not carefully supervised. It should be determined whether: (1) the untreated disease is in fact harmful, (2) the treatment is useful in preventing or reversing the unfavorable progression of the disease, (3) the therapy may be harmful by interfering with growth or development, and (4) the program may be harmful to others to whom it is inadvertently or inappropriately given.


2006 ◽  
Vol 134 (Suppl. 1) ◽  
pp. 45-49
Author(s):  
Borivoj Marjanovic ◽  
Milena Djuric ◽  
Dragan Zamurovic ◽  
Ruzica Kravljanac ◽  
Gordana Vlahovic ◽  
...  

INTRODUCTION. West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients. West Syndrome is associated with many underlying conditions and the terms idiopathic, cryptogenic, and symptomatic are used for its aetiological subgroups. OBJECTIVE. The objective of this investigation was to determine the aetiological diagnosis of patients with West Syndrome and to compare the results with other studies. METHOD. In this 34-year longitudinal prospective one-centre study, 404 patients were studied. All patients exhibiting the diagnostic criteria for West Syndrome were investigated by clinical and neurological examination, EEG, ophthalmologic, psychological, metabolic, genetic, as well as neuroradiological methods, according to their particular indications. RESULTS. 36 (8.9%) patients had normal development, in whom infantile spasms occurred without any identifiable underlying cause, forming the idiopathic group. 51 patients (12.6%) with neurological impairment of unknown aetiology formed the cryptogenic group. The greatest number of patients (317 or 78.5%) formed the symptomatic group, in which neurological features and developmental delay preceded the onset of spasms. Disgenetic disorders and hereditary metabolic diseases were aetiological factors 44 (10.8%) patients. Prenatal and perinatal aetiological factors were revealed in one third of the patients (134 or 31%). Postnatal aetiological factors were revealed in 42 (10.2%) patients. In our study, disgenetic disorders were registered less frequently and perinatal complications more frequently than in other studies. CONCLUSION. Our results indicate the possibility of preventing West Syndrome with good quality obstetric and neonatal care, as well as the early prenatal diagnosis of brain malformations. Modern, sophisticated investigation makes the more accurate aetiological diagnosis of West Syndrome possible.


2020 ◽  
Vol 52 (1) ◽  
pp. 7-39
Author(s):  
Biljana Bodroski-Spariosu ◽  
Mirjana Senic-Ruzic

The possibility of improving parenting practice in raising children became a very popular topic in the scientific literature during the last few decades. The focus is on raising children at an early age and the problem is thematised primarily from the psy discourse point of view. Within this framework, a modern parenting culture is established, which reduces family upbringing to dyadic parent-child interactions outside the context of social structures and values. The aim of this paper is a critical analysis of the pedagogical implications of contemporary parenting culture, considering two key characteristics. The first refers to the conceptualisation of parenting as a depersonalised individual competence. Raising children is understood as an individual competence of achieving predefined outcomes of child development, which neglects the complexity of education both as an intergenerational and as a personal relationship. Another characteristic is the scientification of parenting in the sense of referring to the evidence of empirical scientific research and relying on the so-called parental determinism model. Raising children is becoming a scientific endeavour, and parenting is the most important ?profession? that shapes the future of the child and society. Neglecting the socio-historical dimension of education in terms of structural and ethical frameworks, articulated by the context and the goal of upbringing, makes the pedagogical voice irrelevant in the contemporary culture of parenting.


2020 ◽  
Vol 3 (2(71)) ◽  
pp. 34-36
Author(s):  
Z.V. Zyukina ◽  
T.A. Lobaeva

The relevance of the study is due to the fact that the scientific literature does not have sufficient data on the predisposition of certain ethnic groups of people to metabolic diseases on the example of GM2 gangliosidosis, so the purpose of the work is to clarify and analyze this predisposition of some ethnic groups of people to Tey — Sachs disease (GM2 gangliosidosis, amaurotic idiocy). The research materials and methods are a scientific and analytical review of modern publications on this topic. Research result: a review of the scientific literature has shown that the Jewish population of Eastern European origin (Ashkenazi Jews) has a higher incidence of TaySachs disease and other lipid accumulation diseases. Conclusions: the frequency of hereditary metabolic diseases ranges from 1: 2000 newborns to 1:1000000, and many of these diseases are characterized by differences in the frequency of occurrence in different ethnic groups and populations. In relation to GM2 gangliosidosis, it is shown that 1 in 27-30 Ashkenazi Jews in the United States is a recessive carrier of this disease. BTS affects 1 in 3,600 newborn Jews. One in 20 Jews have a hereditary predisposition to the disease.


2020 ◽  
Vol 73 (6) ◽  
pp. 1211-1216
Author(s):  
Tetiana K. Znamenska ◽  
Olga V. Vorobiova ◽  
Тetiana V. Holota ◽  
Vera V. Kryvosheieva ◽  
Valeriy I. Pokhylko

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.


2021 ◽  
Vol 6 ◽  
pp. 129-147
Author(s):  
Yekaterina Kovalоva ◽  
◽  
Vladimir Lyfar ◽  
◽  

The paper considers the problems of informational implementation of neonatal screening of newborns in order to improve the overall picture of the nation's health and prevent the development of hereditary diseases. The methodology for solving the problems of complete neonatal screening is based on the methods and mathematical apparatus of discrete mathematics, web technologies, data warehouses, and data mining methods. An information model of the dynamic processes of neonatal screening is proposed, based on the specific processing of data presented by a tuple, which contains coherent sequential processes for obtaining the results of tests for blood analysis of newborns, conducting genetic studies and determining pathologies and deviations from an expanded list (currently up to 44 indicators for the purpose of exiting for more than 60). The block diagram of information support of information technology in the decision support system for carrying out neonatal screening of hereditary metabolic diseases is presented. On the basis of LLC «CDC «PHARMBIOTEST», the research of the algorithm for performing sequential procedures of neonatal screening was carried out. The described algorithm of actions has been tested and fully tested for the continuity of information flows, the stability of the information model graph. As a result of the research, the sufficiency and completeness of the chronological indicators of the processing of information flows have been proved. The criteria for confirming the authenticity of methods for obtaining a diagnosis have been developed.


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