Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes

The aim of this study was to characterize Swedish families with non-syndromic cleft lip and/or palate (NSCL/P) for mutations or other sequence variants in the interferon regulatory factor 6 (IRF6) gene, as well as to describe their cleft phenotypes and hypodontia. Seventeen Swedish families with at least two family members with NSCL/P were identified and clinically evaluated. Extracted DNA from blood samples was used for IRF6 mutation screening. Exonic fragments of the IRF6 gene were sequenced and chromatograms were inspected. Statistical analysis was undertaken with marker- and haplotype association tests. No disease-associated IRF6 mutation could be determined in the families analyzed. One new and seven known single nucleotide polymorphisms (SNPs) were detected. The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively). Hypodontia was observed more commonly in individuals affected with CL/P as compared with family members without a cleft (P < 0.01). The hypodontia most often affected the cleft area, possibly representing a secondary effect. The distribution of cleft phenotypes in 15 of the 17 families with NSCL/P differed from the mixed cleft types seen in Van der Woude syndrome (VWS), in that CLP did not occur together with an isolated cleft palate within the same family. It was concluded that mutations of the IRF6 gene are not a common cause for cleft predisposition in Swedish NSCL/P families.     

Altruism costs—the cheap signal from amygdala

When people state their willingness to pay for something, the amount usually differs from the behavior in a real purchase situation. The discrepancy between a hypothetical answer and the real act is called hypothetical bias. We investigated neural processes of hypothetical bias regarding monetary donations to public goods using fMRI with the hypothesis that amygdala codes for real costs. Real decisions activated amygdala more than hypothetical decisions. This was observed for both accepted and rejected proposals. The more the subjects accepted real donation proposals the greater was the activity in rostral anterior cingulate cortex—a region known to control amygdala but also neural processing of the cost-benefit difference. The presentation of a charitable donation goal evoked an insula activity that predicted the later decision to donate. In conclusion, we have identified the neural mechanisms underlying real donation behavior, compatible with theories on hypothetical bias. Our findings imply that the emotional system has an important role in real decision making as it signals what kind of immediate cost and reward an outcome is associated with.     

The Living Conditions of Children with Shared Residence – the Swedish Example

Among children with separated parents, shared residence – i.e., joint physical custody where the child is sharing his or her time equally between two custodial parents’ homes – is increasing in many Western countries and is particularly common in Sweden. The overall level of living among children in Sweden is high; however, the potential structural differences between children in various post-separation family arrangements have not been sufficiently studied. Potential risks for children with shared residence relate to the daily hassles and stress when having two homes. This study aims at investigating the living conditions of children with shared residence compared with children living with two custodial parents in the same household and those living with one custodial parent, respectively. Swedish national survey data collected from children aged 10–18 years (n ≈ 5000) and their parents were used. The outcomes were grouped into: Economic and material conditions, Social relations with parents and peers, Health and health behaviors, Working conditions and safety in school and in the neighborhood, and Culture and leisure time activities. Results from a series of linear probability models showed that most outcomes were similar for children with shared residence and those living with two custodial parents in the same household, while several outcomes were worse for children living with one parent. However, few differences due to living arrangements were found regarding school conditions. This study highlights the inequalities in the living conditions of Swedish children, with those living with one parent having fewer resources compared with other children.