Russian Family Research Articles

State Support for Families with Children during the COVID-19 Pandemic in Russia: Institutional Grammar Tool Analysis

The COVID-19 pandemic is characterised by active law-making processes aimed at health care and support of different categories of population in many countries in the world. Starting from 2019, due to negative demographic trends, Russia has experienced the active transformation of the state support system for families having children. This trend has strengthened during the pandemic. Our research aims to analyse the internal characteristics of the family policy, namely the state support for families having children, during the year preceding pandemic and within the pandemic period. We consider the dynamics of the family policy architecture by means of Institutional Grammar Tool (IGT) analysis and demonstrate the opportunities for using the results of such analyses in the highly dynamic situation of the COVID-19 pandemic. We analysed 11 federal legal acts adopted in Russia after January 1, 2020 that addressed parents and offered support for families with children. These acts contain 78 institutional statements that we coded in accordance with the IGT rules, defining the attributes, objects, deontics and conditions in each sentence. Our results are as follows: 1) Russian family policy before and during COVID-19 pandemic can be divided into three stages, including the short-term second stage from the beginning of 2020 to the beginning of the pandemic. The most obvious changes in the three stages are seen in terms of the Objects and Conditions of the institutional statements. At the second and third stages we see a major expansion of support receivers (the Objects) as well as changes in the Conditions for the benefits gain. Conditions vary greatly and differ in terms of regularity of measure and the type of the payment granted; 2) Legal acts adopted do not always indicate clear Attributes, i.e., the subjects (federal and regional authorities) responsible for the implementation of the particular rule sometimes can hinder the implementation of the regulation; 3) Classification of the parameters of the main support measures in the framework and categories of the IGT analyses lead us to the probable concept of the information policy that would be clear to the beneficiaries of support measures.

Formation of a system of real support measures large families

The article summarizes the results of the analysis of the use of instruments of state support for large families in Russia, taking into account the social and demographic situation. The purpose of the study is to analyze is to substantiate proposals for direct real support of large families to overcome the trend of depopulation in Russia. The categories «large family», «low-income family» and «low-income family» have been clarified to determine the most effective measures to support large families. Measures of state support for large families have been differentiated according to the characteristics of their direct or indirect, potential or actual receipt by such families, which allows us to assess their effectiveness in stimulating an increase in the birth rate. The analysis of the contribution of large families to the increase in natural population growth is given, the influence of such factors as a reduction in the reproductive contingent, in particular, due to a decrease in the number of women of fertile age, an increase in the average age of mothers giving birth to their first child and subsequent children, a decrease in the mother's living standards in large families is shown. A study of the state support for large families operating in Russian regions was carried out, which made it possible to reveal the prevalence of indirect potential tools over direct real ones that do not have a significant effect on improving the conditions and living standards of families with three or more children. As a result of the analytical study, a potential opportunity was revealed to solve the problems of depopulation by creating material and financial conditions for increasing the number of large families. The progressive foreign experience on the use of direct real measures to support large families, depending on the number of children being brought up, is generalized. Recommendations for improving the effectiveness of measures to support large families by providing real (direct) state support have been substantiated

Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other conditions and the immediate initiation of pathogenetic therapy.Materials and methods. Clinical manifestations, neuroimaging characteristics of the disease were studied in 46 patients with diagnosed glutaric aciduria type 1 confirmed by biochemical and molecular genetic methods. Methods: gas chromatography with mass spectrometry, tandem mass spectrometry, Sanger sequencing, chromosomal microarray analysis of the exon level.Results and discussion. A retrospective analysis of anamnestic and clinical data was carried out, and the nature and age of disease manifestation, provoking factors, a spectrum of clinical manifestations and neuroimaging data were assessed.Conclusion. How initiated treatment prevents progression of neurological symptom relief and patient adaptation. With the help of the goal, it is necessary to inform pediatricians, neurologists and neuroradiologists about this feature of the course of glutaric aciduria type 1 in order to increase the clinical alertness of this disease.

ЗДОРОВЬЕСБЕРЕГАЮЩИЕ ТЕХНОЛОГИИ КАК СОЦИАЛЬНЫЕ ПРАКТИКИ В СОВРЕМЕННОЙ РОССИЙСКОЙ СЕМЬЕ

The paper presents a study of modern social practices of health care in the family. The problem of research is determined by the need to implement health-saving technologies such as living conditions and family life, as well as the introduction of social practices of healthy lifestyles in primary groups. The relevance of the topic is determined by the conditions for the development of modern Russian society, which are characterized by the need to form a social institution of healthy lifestyle and mandatory components in the form of social practices for informal groups. From this perspective, the natural course of development is the institution of the family, which takes on the task of introducing a healthy lifestyle as a system of daily activities. The study is based on the institutional analysis of health-preserving technologies in the family, the basis for the analysis was the theoretical and methodological principles of studying society as a social system (T. Parsons, N. Luhmann). The model for representing health-saving technologies in the everyday practices of the modern Russian family is based on the model of systems of social actions by T. Parsons and the model of the functioning of the family as a social institution by R. Merton. The empirical base is based on the author's sociological research: a survey, an expert survey, document analysis, macrosociological analysis and modeling (from 2016 to 2021), as well as the results of studies conducted by All-Russia Public Opinion Research Center (VCIOM), The Levada Center (2018). As a result of the research, an analysis of the social practices of a healthy lifestyle in a modern Russian family was carried out; the components of a healthy lifestyle were presented as a condition for the development of health-saving technologies in the daily actions of an individual. The model of social practices of healthy lifestyles in a modern Russian family is based on the institutional analysis of the family.

The young families during lock-down: coping strategies

The article considers the impact of lock-down and quarantine on family relationships and adaptation strategies of young families. The results demonstrate that young families demonstrate both stability during lock-down period and capacity to resist the pandemic crisis. However, isolation period revealed psychological and social problems of family relationships. The pandemic period became the most stressogenic factor for young families with children where parents combine their family responsibilities with "remote" labor activity. The current level of emotional exhaustion of young mothers depends on two components: material well-being of family and age of children. The families with two and more children and families fostering children aged less than 5 years survive most hardly period of self-isolation. The gender inequalities that are traditional for Russian families intensified in conditions of quarantine. The most common coping strategies with these conditions for young males are "escape into Internet", loneliness, alcohol consumption and sport activities. At the same time females prefer caring of their children, housework and involvement in creative activities.

Genetic and phenotypic characteristics of 60 Russian families with Lynch syndrome

AIM: to evaluate the genetic and clinical characteristics of Russian patients with Lynch syndrome.PATIENTS AND METHODS: in the period from 2012 to 2019, patients with suspected Lynch syndrome were studied, according to the selection recommendations (Amsterdam II and original criteria). All patients underwent a microsatellite instability test in the tumor, and if it was detected, for germline mutations in the genes of MMR system. All patients underwent standard clinical procedures (colonoscopy, gastroscopy, CT, MRI, etc.).RESULTS: Lynch syndrome was genetically confirmed in 60 unrelated patients (included 30 women and 30 men, ranging in age from 24 to 68 years). Germline mutations were found in the following genes: MLH1 — 30, MSH2 — 26, MSH6 — 2, PMS1 — 1, PMS2 — 1. For the first time in the world, 12 novel mutations have been described. Clinical features of Russian patients with Lynch syndrome include: the early average age of development of the first cancer — 39.0 years; frequent 45% localization in the left colon; high (55%) incidence of poorly differentiated adenocarcinomas. A total of 234 tumors were diagnosed in Russian patients with Lynch syndrome and their relatives. It is also important to note that the stomach cancer is the third most common cancer after colon cancer.CONCLUSION: Russian patients with Lynch syndrome showed clinical and genetic and features, that distinguish them from European and North American population and should be taken into account when treating.

Genetic and phenotypic characteristics of 60 Russian families with Lynch syndrome

AIM: to evaluate the genetic and clinical characteristics of Russian patients with Lynch syndrome.PATIENTS AND METHODS: in the period from 2012 to 2019, patients with suspected Lynch syndrome were studied, according to the selection recommendations (Amsterdam II and original criteria). All patients underwent a microsatellite instability test in the tumor, and if it was detected, for germline mutations in the genes of MMR system. All patients underwent standard clinical procedures (colonoscopy, gastroscopy, CT, MRI, etc.).RESULTS: Lynch syndrome was genetically confirmed in 60 unrelated patients (included 30 women and 30 men, ranging in age from 24 to 68 years). Germline mutations were found in the following genes: MLH1 — 30, MSH2 — 26, MSH6 — 2, PMS1 — 1, PMS2 — 1. For the first time in the world, 12 novel mutations have been described. Clinical features of Russian patients with Lynch syndrome include: the early average age of development of the first cancer — 39.0 years; frequent 45% localization in the left colon; high (55%) incidence of poorly differentiated adenocarcinomas. A total of 234 tumors were diagnosed in Russian patients with Lynch syndrome and their relatives. It is also important to note that the stomach cancer is the third most common cancer after colon cancer.CONCLUSION: Russian patients with Lynch syndrome showed clinical and genetic and features, that distinguish them from European and North American population and should be taken into account when treating.

Личностные и средовые факторы жизненного успеха в российской провинции: аккумуляция или конфронтация?

The article actualizes the problem of self-assessment of personal and environmental factors of life success in the Russian province. The authors understand personal factors of success in life as a set of specific or typical characteristics of an individual that make up his human capital. Environmental factors include components of an individual's social capital, his group status, as well as macro-social conditions that have a potential impact on individual life trajectories. Based on the analysis, the authors reveal that the most significant is the combination of origin from a «good» family with sufficient financial and social capital and personal efforts and activity. At the same time, the paper note s that the majority of Russian families do not have sufficient resources for a successful life start of conditional children. Moreover, this gives in many respects the source of the growing importance of personal factors of life success in the mass consciousness, the sociocultural modernization of the Russian province and the gradual loss of the «familistic» character by Russian society.

Transformation of marriage and family values in modern russian society

The article’s purpose is a comprehensive theoretical and legal analysis of the conditions for transforming traditional marriage and family values, taking into account the modern realities of Russian family policy. The article also illustrates the main trends in family fundamentals changes, as young people of a constituent entity of the Russian Federation view it. All this will facilitate the wording of an integral concept of the value legal regulation of family relations in Russia. The general scientific and unique cognition methods were used to achieve the stated purpose of the study. A particular method of scientific research was the method of sociological survey (questionnaire survey). The theoretical conclusions and practical recommendations formulated as a result of the study aim to form an effective pro-family policy. Such policy should increase the prestige of Russian society’s spiritual and ideological traditional family values.

REPRODUCTIVE AND MIGRATION ATTITUDES OF CONTEMPORARY YOUTH OF THE EAEU STATES (RUSSIA, KAZAKHSTAN, KYRGYZSTAN: A CASE STUDY)

The article is devoted to the current aspects of demographic development in the EAEU member states in the context of studying the specifics of the reproductive and migratory behavior of young people in Russia, Kazakhstan and Kyrgyzstan. The modern generation of young people in post-Soviet countries over the past three decades has been influenced by various factors that have radically transformed their views on family, childbirth and migration. Their attitudes towards reproductive and migratory behavior will dominate the future demographic trends not only in each of the studied countries, but also in the Eurasian space as a whole. Therefore, a detailed study of the attitudes of the young and educated generation is the most important task of demographic and sociological sciences. Based on the results of a sociological survey conducted using a unified methodology, the article examines the features of reproductive and migratory behavior in countries at different stages of the “demographic transition.” It reveals the peculiarities of the respondents’ attitude from the three states to official marriage, age preferences for starting a family and giving birth to their first child. Reproductive judgments regarding anticipated and ideal number of children are identified. The use of the ranking method allowed to detect ​​the normative childbearing models in the three countries and the differences between them. The conclusion states that in all the states in question, the prevailing socio-economic conditions are an obstacle to the implementation of the existing ideal reproductive attitudes. The gender peculiarities of the views of young people in the three countries on extramarital unions, reproductive patterns and “planned childlessness” were noted. The article demonstrates that, with regard to the results of the study, in the next 25 to 30 years families in Russia will likely have a small number of children, in Kazakhstan—an average number, and reproductive behavior in Kyrgyzstan will likely retain its tendency towards having many children. The article also contains conclusions about specific migration attitudes based on the replies to questions about the preferred place to apply professional skills, create a family and have children. The dependence of migration attitudes on gender and country of residence has been revealed. Based on empirical data, the groups of respondents characterized by pragmatic, patriotic and antipatriotic migratory behavior have been identified. It was determined that young people who live in Kyrgyzstan are more focused on moving to a new place of residence, while all respondents are quite cosmopolitan in regard to the place of application of their professional skills, and students are most patriotic about the place to start a family.

Социально-экономическое самочувствие российских семей с детьми в условиях пандемии коронавирусной инфекции

 The article is devoted to the essence of the social well-being of the family. The author points out that it largely depends on the socio-economic processes taking place in the modern society, and is associated with social guarantees of the state in the specific period. The author analyzes the statistical data of the survey of Russian families with children on their social status and well-being in 2019–2020 and points out an increase in the level of anxiety of the population about their financial situation and the ability to provide their family with everything they needed. The article pays particular attention to the analysis of government support measures to this category of the population.

Autosomal recessive spastic paraplegias types 7 and 76

Introduction. Since 2017, the Research Centre for Medical Genetics has been conducting the first clinical and molecular study in Russia of a heterogeneous spastic paraplegia group based on the MPS high throughput sequencing method. Our group of molecularly diagnosed SPGs (types with known genes) includes 122 families with 22 SPG types. This article continues the publication series on the study results. The study aimed to determine the proportion and analyze the clinical, molecular, and genetic characteristics of two autosomal recessive forms, SPG7 and SPG76, in a group of identified SPGs. Materials and methods. We assessed three non-inbred Russian families: two with SPG7 (a non-familial and a familial case) and one with SPG76 (a non-familial cases). Molecular genetic methods included massive parallel sequencing (MPS) panel for spastic paraplegia, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA)). Results. SPG7 was detected in 2 families and accounted for 1.6% of the entire SPG group and 8.7% of the autosomal recessive subgroup (less than in several other studies). The compound heterozygous genotypes in both families included the most frequent mutation in the SPG7 gene, c.1529C>T (p.Ala510Val); the allelic mutation in one case was a 4-exon deletion not previously described, while the other was a known mutation, c.228T>C (p.Ile743Thr). Despite a similar age at onset (end of the 3 rd –4 th decade), the symptoms were different: ‘uncomplicated’ spastic paraplegia in the non-familial case, while in the affected brothers prevailed ataxia; in both families, brain MRI showed cerebellar atrophy. The SPG76 case is a rare one, especially in a non-inbred family, and the first in Eastern Europe. A total of 28 families, mostly inbred, have been described worldwide. Two new mutations were found in the CAPN1 gene in the compound heterozygous state: c.398_399insAGTGGTTCCGCCGGCC (p. Arg133Glnfs*39) and c.1535G>A (p.Arg512His). Clinical features of the 30-year-old patient were typical, with onset at 20 years of age, spastic paraplegia and ataxia, and without brain MRI abnormalities. Conclusion. The range of autosomal recessive SPGs in Russian patients includes both common and very rare forms occurring in non-inbred families. Of the 5 mutations found in the SPG7 and CAPN1 genes, 3 have not been previously described. Our observations demonstrate the close relationship between spastic paraplegia and ataxia and the significance of MPS and MLPA technologies in the diagnostics of SPG. For citation: Rudenskaya G.E., Kadnikova V.A., Ryzhkova O.P., Demina N.A., Sharkova I.V., Polyakov A.V. [Autosomal recessive spastic paraplegias types 7 and 76]. Annals of clinical and experimental neurology 2021; 15(2): 13–20. (In Russ.) DOI: http://dx.doi.org/10.25692/ACEN.2021.2.2

Affective States, Coping and Mutual Understanding in Russian Families During the Coronavirus Disease 2019 Pandemic Lockdown.

The purpose of the empirical study (April–May 2020) was to determine the type and level of affect, specifics of coping styles during the coronavirus disease 2019 (COVID-19) pandemic lockdown, as well as mutual understanding between parents and children. We hypothesized that the combination of positive and negative affect magnitude is a factor in well-being and mutual understanding with children, as well as the coping style during the lockdown. The study involved 705 respondents aged 16–77, including 435 parents living with children under 16. Personal traits, positive and negative affect, coping styles, and well-being were studied by Ten-Item Personality Inventory (TIPI)-RU, Positive and Negative Affect Scale (PANAS)-RU, Brief COPE, Satisfaction with Life Scale (SWLS), respectively. Mutual understanding was studied using a self-report questionnaire. Cluster analysis (k-means method) was used to divide the sample into clusters in accordance with the combination of positive and negative affect. According to the data obtained, parents from the “positive-affective” cluster have much better mutual understanding with both younger and older children than participants from other clusters.

Ethnic identity and peculiarities of coping behavior of people from interethnic marriages

The article presents the results of an empirical study of self-identification, ethnic identity and peculiarities of the transformation of ethnic identity among people from inter-ethnic marriages (Russian-Tatar families). A socio-psychological analysis of the specifics of coping behavior strategies among immigrants from families of ethnically mixed families, as well as immigrants from Russian and Tatar families is given.

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

A novel DUOXA2 mutation in russian family with thyroid dysgenesis

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

The Individual, Communal and Historical Significance of Family Archives: The Case of Russian Families with Finnish Origins in the Murmansk Region

L’intérêt pour les archives familiales tient au fait que chaque famille qui rassemble des documents et des photographies œuvre pour la préservation de sa mémoire et sa transformation en histoire. Les matériaux de ces archives ont un potentiel informatif important en tant que sources pour l’étude des communautés ethniques. Centré plus particulièrement sur la communauté finnoise de la région de Murmansk, l’article examine la composition des archives familiales afin de comprendre quels faits et circonstances de l’histoire familiale sont valorisés en vue de leur transmission. Il montre les diverses fonctions que revêt ce type d’archives : en dehors de leur intérêt pratique ou social, elles constituent une source historique précieuse sur des événements liés non seulement à une famille donnée, mais aussi à une communauté dans son ensemble.

Женщина как глава неполной семьи в современном российском обществе: стратегии самоопределения

Introduction. Large-scale sociocultural transformations of the late 20th – early 21st centuries affected the life of Russian family. The period witnesses the shaping of the so-called post-nuclear family characterized by the blurring of parental statuses and roles resulting, in particular, from the spread of incomplete families. Goals. According to official data, in Russian society, as a rule, incomplete family with a child (children) is headed by woman, and her adaptation to the conditions of incomplete family takes shape via one or another self-determination strategy. So, there emerges a need to study adaptive strategies that allow women from incomplete families to self-actualize. Methods. In terms of methodology, the study focuses on the microsociological level, namely, the ‘doing family’ microtheory which provided a turn towards the study of family practices. Results. The results of our sociological survey make it possible to delineate three main types of such strategies, namely: 1) ‘innovative, or proactive one’, 2) ‘traditional, or support-oriented one’, 3) and ‘patriarchal, or passive-reproductive one’. The first self-determination strategy is recognized as prevailing, which corresponds to sociocultural transformations experienced by the contemporary world and Russian society proper. Conclusions. The article also notes that each of the self-determination strategies adopted by women from incomplete families implies a dysfunction of education and socialization processes, which requires that the Government and related structures aimed at beneficial socialization of children take systemic measures to minimize negative consequences inherent to the phenomenon of incomplete family.

Diversity of <i>VCP</i>-related phenotypes: case report and literature review

Background.GeneVCPencoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few others) in different combinations often varying in one family. Rare unusual phenotypes are difficult for recognition. Molecular methods facilitate diagnostics.Objective:to describe first RussianVCP-related familial case detected by exome sequencing and present a review on poorly known disorder.Materials and methods.In a Russian family with 4 patients in 2 generations 6 persons were examined: 2 patients, 3 clinically unaffected possible heterozygous carriers and patient’s mother with no genetic risk; medical information was received about two deceased patients. Methods: clinical and genealogical; biochemical: blood creatine kinase, alpha-glucosidase; molecular: clinical exome sequencing, Sanger familial sequencing, bioinformatical analysis.Results.In 48-year-old proband and 50-year-old brother whose former diagnosis was hereditary neuropathy proximal muscular dystrophy with onset in 43–45 years, rapid progression and moderately raised creatine kinase (341–572 U/l) was found out. Since 45 years the proband also had Paget disease. Both brothers had no evident dementia (neuropsychological examination was not performed). The younger brother since 32 years suffered typical amyotrophic lateral sclerosis, evidently combined with dementia, he died in 43 years being severely disabled; brain is not described in autopsy record. The father had rapidly progressing walking difficulties since 40 years without mental, speech or swallowing disturbances; he was never examined and died in 48 years of heart disease (?). Clinical exome sequencing in the proband detected inVCPexon 5 one of common mutations с.463С>T (p.Arg155Cys) in heterozygous state. Familial Sanger sequencing found out the mutation in him, in the brother and in clinically unaffected 36-year-old sister, 22-year-old daughter and 15-year old son, thus diagnosing preclinical stage of the disease.Conclusions. The case illustrates diversity ofVCP-related disorders and necessity to take into consideration all phenotype spectrum. DNA-confirmed diagnosis permits genetic counseling.

Heuristics and medical errors. Part 2: How to make better medical decisions

This publication is a continuation of the article published in the 4th issue of the journal Russian family doctor for 2020 Heuristics, language and medical errors, which described the ways of making medical decisions that can lead to errors in patient management tactics, in particular affect of heuristics / visceral bias, attribution error, frame of reference, availability bias, one-word-one-meaning-fallacy. This article discusses additional sources of diagnostic error, including diagnosis momentum, confirmation bias, representativeness, and premature closure also the conflict that arises from diagnostic uncertainty is discussed. All errors in the tactics and the diagnostic process are illustrated by clinical cases from the personal practice of the author of the article.