A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.

Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the SFMBT1 gene, a transcription factor associated with transcriptional repression during development, in a 14-yr-old boy with Poland syndrome. We further demonstrate by means of cDNA sequencing and western blot analysis that this variant results in SFMBT1 exon 10 skipping and a lower concentration of the SFMBT1 wild-type protein. To our knowledge, the heterozygous pathogenic SFMBT1 variant identified in association with this condition is novel as it has not been elsewhere described in the literature and it can be incorporated to the limited reported cases published.

Dimensions of the Parent-Child Relationship: Effects on Substance Use in Adolescence and Adulthood.

BACKGROUND: Several studies have uncovered a relationship between parenting styles and the likelihood that adolescents use tobacco, alcohol or illegal drugs. OBJECTIVES: This paper extends existing research in two ways. First, we consider a longer time-frame, investigating the relationship between parenting in adolescence and substance use in adulthood. Second, we explore the pathways by which this relationship is expressed, in particular the extent to which the relationships in question are mediated by age at first use and depression. METHODS: Our analysis is based on data from the National Longitudinal Study of Adolescent Health (Add Health), N = 2954, and is conducted using structural equation modeling (SEM). We consider warmth and control as distinct dimensions of parenting, as well as a typology of parenting which combines the two dimensions. RESULTS: Warmth is associated with reduced risks of problem substance use in adulthood, via reduced risks of early initiation and a lower risk of depression. Parental control also has a protective effect via reduced risks of early initiation, but this is offset by a detrimental effect on depression, particularly in the case of older adolescents. We also find that indulgent parenting is not associated with extra risk of any kind compared with the authoritative style, whereas authoritarian and neglectful styles are. Conclusions/Importance: The nexus of relationships which we uncover has implications for policy aimed at reducing substance use in the longer term, suggesting that initiatives to promote warm and responsive parenting may be most effective in reducing the risks of later substance use problems.

Who supports whom? Do adult children living at home share their incomes with their parents?

Across the developed world, young adults are now more likely to live with their parents than they were two or three decades ago. This is typically viewed, both in the media and in scholarly research, as an economic burden on parents. This article investigates, for the first time, the extent to which financial support is also given in the opposite direction, with young people contributing to their households' living costs. We use data on 19 European countries from the 2010 European Union Statistics on Income and Living Conditions (N = 553 in Austria to N = 2777 in Italy). Many young adults do share their incomes with their families, with the degree of sharing being the highest among the poorest households. In a substantial minority of households, particularly in lower-income countries, the contributions of young adult household members keep households out of poverty.

Housework share between partners: Experimental evidence on gender-specific preferences.

This paper uses a novel vignette-based experimental design to investigate the reasons underlying the gendered division of housework. We are particularly interested in the role of gender-specific preferences: are there differences in the utility that men and women derive from housework, and might these be responsible for the fact that women continue to do more housework than men? It is difficult to address these questions with conventional survey data, because of inherent problems with endogeneity and ex-post rationalization; our experimental design circumvents these problems. We find remarkably little evidence of any systematic gender differences in preferences, and a general inclination towards an equal distribution of housework; this suggests that the reasons for the gendered division of housework do not derive from gender differences in preferences, and must lie elsewhere.

New evidence on breastfeeding and postpartum depression: the importance of understanding women's intentions.

This study aimed to identify the causal effect of breastfeeding on postpartum depression (PPD), using data on mothers from a British survey, the Avon Longitudinal Study of Parents and Children. Multivariate linear and logistic regressions were performed to investigate the effects of breastfeeding on mothers' mental health measured at 8 weeks, 8, 21 and 32 months postpartum. The estimated effect of breastfeeding on PPD differed according to whether women had planned to breastfeed their babies, and by whether they had shown signs of depression during pregnancy. For mothers who were not depressed during pregnancy, the lowest risk of PPD was found among women who had planned to breastfeed, and who had actually breastfed their babies, while the highest risk was found among women who had planned to breastfeed and had not gone on to breastfeed. We conclude that the effect of breastfeeding on maternal depression is extremely heterogeneous, being mediated both by breastfeeding intentions during pregnancy and by mothers' mental health during pregnancy. Our results underline the importance of providing expert breastfeeding support to women who want to breastfeed; but also, of providing compassionate support for women who had intended to breastfeed, but who find themselves unable to.

Infant feeding: the effects of scheduled vs. on-demand feeding on mothers' wellbeing and children's cognitive development.

BACKGROUND: Many popular childcare books recommend feeding babies to a schedule, but no large-scale study has ever examined the effects of schedule-feeding. Here, we examine the relationship between feeding infants to a schedule and two sets of outcomes: mothers' wellbeing, and children's longer-term cognitive and academic development. METHODS: We used a sample of 10,419 children from the Avon Longitudinal Study of Parents and Children, a cohort study of children born in the 1990 s in Bristol, UK. Outcomes were compared by whether babies were fed to a schedule at 4 weeks. Maternal wellbeing indicators include measures of sleep sufficiency, maternal confidence and depression, collected when babies were between 8 weeks and 33 months. Children's outcomes were measured by standardized tests at ages 5, 7, 11 and 14, and by IQ tests at age 8. RESULTS: Mothers who fed to a schedule scored more favourably on all wellbeing measures except depression. However, schedule-fed babies went on to do less well academically than their demand-fed counterparts. After controlling for a wide range of confounders, schedule-fed babies performed around 17% of a standard deviation below demand-fed babies in standardized tests at all ages, and 4 points lower in IQ tests at age 8 years. CONCLUSIONS: Feeding infants to a schedule is associated with higher levels of maternal wellbeing, but with poorer cognitive and academic outcomes for children.

Yearning, learning, and conceding: reasons men and women change their childbearing intentions.

People's childbearing intentions change over the course of their reproductive lives. These changes have been conceptualized as occurring in response to the realization that an individual is unlikely to achieve his or her intended fertility, because of constraints such as the "biological clock" or lack of a partner. In this article, we find that changes to child-bearing plans are influenced by a much wider range of factors than this. People change their plans in response to the wishes of their partners, in response to social norms, as the result of repartnering, and as the result of learning about the costs and benefits of parenthood; there are also differences between the factors that influence men's and women's decision-making. In a departure from existing studies in this area, we use a flexible analytical framework that enables us to analyze increases in planned fertility separately from decreases. This allows us to uncover several complexities of the decision-making process that would otherwise be hidden, and leads us to conclude that the determinants of increases in planned fertility are not simply equal and opposite to the determinants of decreases.