Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Inborn errors of immunity are known to influence susceptibility to mycobacterial infections. The aim of this study was to characterize the genetic profile of nine patients with mycobacterial infections (eight with BCGitis and one with disseminated tuberculosis) from the Republic of Moldova using whole-exome sequencing. In total, 12 variants in eight genes known to be associated with Mendelian Susceptibility to Mycobacterial Disease (MSMD) were detected in six out of nine patients examined. In particular, a novel splice site mutation c.373-2A>C in STAT1 gene was found and functionally confirmed in a patient with disseminated tuberculosis. Trio analysis was possible for seven out of nine patients, and resulted in 23 candidate variants in 15 novel genes. Four of these genes - GBP2, HEATR3, PPP1R9B and KDM6A were further prioritized, considering their elevated expression in immune-related tissues. Compound heterozygosity was found in GBP2 in a single patient, comprising a maternally inherited missense variant c.412G>A/p.(Ala138Thr) predicted to be deleterious and a paternally inherited intronic mutation c.1149+14T>C. Functional studies demonstrated that the intronic mutation affects splicing and the level of transcript. Finally, we analyzed pathogenicity of variant combinations in gene pairs and identified five patients with putative oligogenic inheritance. In summary, our study expands the spectrum of genetic variation contributing to susceptibility to mycobacterial infections in children and provides insight into the complex/oligogenic disease-causing mode.

Economic development, weather shocks and child marriage in South Asia: A machine learning approach.

Globally, 21 percent of young women are married before their 18th birthday. Despite some progress in addressing child marriage, it remains a widespread practice, in particular in South Asia. While household predictors of child marriage have been studied extensively in the literature, the evidence base on macro-economic factors contributing to child marriage and models that predict where child marriage cases are most likely to occur remains limited. In this paper we aim to fill this gap and explore region-level indicators to predict the persistence of child marriage in four countries in South Asia, namely Bangladesh, India, Nepal and Pakistan. We apply machine learning techniques to child marriage data and develop a prediction model that relies largely on regional and local inputs such as droughts, floods, population growth and nightlight data to model the incidence of child marriages. We find that our gradient boosting model is able to identify a large proportion of the true child marriage cases and correctly classifies 77% of the true marriage cases, with a higher accuracy in Bangladesh (92% of the cases) and a lower accuracy in Nepal (70% of cases). In addition, all countries contain in their top 10 variables for classification nighttime light growth, a shock index of drought over the previous and the last two years and the regional level of education, suggesting that income shocks, regional economic activity and regional education levels play a significant role in predicting child marriage. Given the accuracy of the model to predict child marriage, our model is a valuable tool to support policy design in countries where household-level data remains limited.

Migration and child health in Moldova and Georgia.

There is scarce empirical evidence on the relation between migration and child health in Moldova and Georgia-two post-Soviet countries with large out-migration flows in the region. This study uses nationally representative data collected in 2011-2012 in Moldova (N = 1601) and Georgia (N = 1193) to investigate how children's health associates with five transnational characteristics: migrant and return-migrant household types, parental migration and parental divorce, maternal and/or paternal migration and caregiver's identity, the duration of migration, and remittances. Findings show that, regardless of the transnational family setting, children of migrants have overall positive or no differing health compared to children in non-migrant households. However, significant gender differences are found in both countries. More often than not, Moldovan and Georgian girls are more at risk of having poorer health when living transnationally. These results add nuance to a field of research that has mainly emphasized negative outcomes for children in transnational care.

A Longitudinal Analysis of Well-Being of Ghanaian Children in Transnational Families.

This study is the first to employ panel data to examine well-being outcomes-self-rated health, happiness, life satisfaction, and school enjoyment-of children in transnational families in an African context. It analyzes data collected in 2013, 2014, and 2015 from secondary schoolchildren and youth (ages 12-21) in Ghana (N = 741). Results indicate that children with fathers, mothers, or both parents away and those cared for by a parent, a family, or a nonfamily member are equally or more likely to have higher levels of well-being as children in nonmigrant families. Yet, there are certain risk factors-being a female, living in a family affected by divorce or by a change in caregiver while parents migrate-that may decrease child well-being.

Gendered Perceptions of Migration Among Ghanaian Children in Transnational Care.

This study empirically measures the perceptions towards maternal and paternal migration of male and female children who stay behind in Ghana. It analyses survey data collected in 2010 among secondary school children aged 11-18 in four urban areas with high out-migration rates: the greater Accra region, Kumasi, Sunyani and Cape Coast (N = 1965). The results show significant gendered differences in how children perceive parental migration. Specifically, female children have more positive views towards maternal and paternal migration when parents are abroad and in a stable marital relationship, when the assessed parent is abroad but the other parent is the caregiver in Ghana, when there is a frequent change in the care arrangement, and when female children receive remittances. These findings were not replicated for male children. The analysis highlights the sensitivity of the results to the gender of the child and to the characteristics of children's transnational lives that are being analysed.

International parental migration and the psychological well-being of children in Ghana, Nigeria, and Angola.

When parents migrate, leaving their children in the origin country, transnational families are formed. Transnational family studies on children who are "left behind" indicate that children suffer psychologically from parental migration. Many of the factors identified as affecting children's responses to parental migration however are not considered in child psychology and family sociology studies. This study aims to bridge these areas of knowledge by quantitatively investigating the association between transnational families and children's psychological well-being. It analyzes a survey conducted in three African countries in 2010-11 (Ghana N = 2760; Angola N = 2243; Nigeria N = 2168) amongst pupils of secondary schools. The study compares children in transnational families to those living with their parents in their country of origin. Children's psychological well-being is measured through the Strengths and Difficulties Questionnaire. Multiple regression analyses reveal that children in transnational families fare worse than their counterparts living with both parents but not in Ghana where living conditions mediate this relationship. This paper also looks at four characteristics of transnational families and finds that specific characteristics of transnational families and country contexts matter: (1) changing caregivers is associated with poorer well-being in all countries; (2) which parent migrates does not make a difference in Ghana, when mothers migrate and fathers are caregivers results in poorer well-being in Nigeria, and both mother's and father's migration result in worse outcomes in Angola; (3) the kin relationship of the caregiver is not associated with poorer well-being in Ghana and Nigeria but is in Angola; (4) children with parents who migrate internationally do not show different results than children whose parents migrate nationally in Ghana and Nigeria but in Angola international parental migration is associated with poorer psychological well-being. The study shows that broader characteristics in the population rather than parental migration per se are associated with decreased levels of well-being.