Abstract Reasoning and Friendship in High Functioning Preadolescents with Autism Spectrum Disorders

To investigate the relationship between cognitive and social functioning, 20 Israeli individuals with HFASD aged 8–12 and 22 age, maternal education, and receptive vocabulary–matched preadolescents with typical development (TYP) came to the lab with a close friend. Measures of abstract reasoning, friendship quality, and dyadic interaction during a play session were obtained. As hypothesized, individuals with HFASD were significantly impaired in abstract reasoning, and there were significant group differences in friend and observer reports of friendship quality. There also was consistency in reports between friends. Two factors—“relationship appearance” and “relationship quality” described positive aspects of the relationships. Disability status and age related to relationship appearance. Proband abstract reasoning was related to relationship quality

Newborn examination on full-term neonate whose mother had group B streptococcus colonisation

This article presents a case report of a newborn infant physical examination (NIPE) performed while the author was studying for the post-registration NIPE qualification as caseloading midwife. The author examined infants in the community-either homebirths or infants that had been discharged from hospital. One neonate examined was born at 40 weeks' gestation to a woman identified as having group B streptococcus colonisation at 36 weeks' gestation. The woman declined birth in hospital with intrapartum antibiotics, choosing instead to birth at home. This case is used to reflect on current practices regarding the management of women colonised with group B streptococcus, and on the NIPE screening programme. The rationale for the NIPE is addressed, alongside the midwife's role and the importance of the timing of the NIPE. The evidence surrounding the management of group B streptococcus and the potential impact on the neonate is examined. All components of the general physical examination as outlined by the UK National Screening Committee were assessed, but the case study focuses on issues pertinent to a full-term healthy newborn born to a woman with group B streptococcus. It critically evaluates the relevant neurobehavioural and physiological assessments, in order that normal can be assumed or deviation from the norm identified. The techniques and tools for assessment are discussed alongside professional, legal and ethical implications.</p

Phenotypic evolution from genetic polymorphisms in a radial network architecture

<p>Abstract</p> <p>Background</p> <p>The genetic architecture of a quantitative trait influences the phenotypic response to natural or artificial selection. One of the main objectives of genetic mapping studies is to identify the genetic factors underlying complex traits and understand how they contribute to phenotypic expression. Presently, we are good at identifying and locating individual loci with large effects, but there is a void in describing more complex genetic architectures. Although large networks of connected genes have been reported, there is an almost complete lack of information on how polymorphisms in these networks contribute to phenotypic variation and change. To date, most of our understanding comes from theoretical, model-based studies, and it remains difficult to assess how realistic their conclusions are as they lack empirical support.</p> <p>Results</p> <p>A previous study provided evidence that nearly half of the difference in eight-week body weight between two divergently selected lines of chickens was a result of four loci organized in a 'radial' network (one central locus interacting with three 'radial' loci that, in turn, only interacted with the central locus). Here, we study the relationship between phenotypic change and genetic polymorphism in this empirically detected network. We use a model-free approach to study, through individual-based simulations, the dynamic properties of this polymorphic and epistatic genetic architecture. The study provides new insights to how epistasis can modify the selection response, buffer and reveal effects of major loci leading to a progressive release of genetic variation. We also illustrate the difficulty of predicting genetic architecture from observed selection response, and discuss mechanisms that might lead to misleading conclusions on underlying genetic architectures from quantitative trait locus (QTL) experiments in selected populations.</p> <p>Conclusion</p> <p>Considering both molecular (QTL) and phenotypic (selection response) data, as suggested in this work, provides additional insights into the genetic mechanisms involved in the response to selection. Such dissection of genetic architectures and in-depth studies of their ability to contribute to short- or long-term selection response represents an important step towards a better understanding of the genetic bases of complex traits and, consequently, of the evolutionary properties of populations.</p

An epigenome-wide association study meta-analysis of educational attainment

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