Individual common variants exert weak effects on the risk for autism spectrum disorders.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

Maternal tendencies in women are associated with estrogen levels and facial femininity.

Previous studies have shown that women with higher maternal tendencies are shorter and have lower testosterone levels than those with lower maternal tendencies. Here we report two studies that investigated the relationships between maternal tendencies and two further measures of physical masculinization/feminization; urinary estrogen metabolite (estrone-3-glucuronide: E1-3G) levels (Study 1) and rated facial femininity (Study 2). In Study 1, nulliparous women reported both their ideal number of children and ideal own age at first child and also provided urine samples. There was a significant positive correlation between measured late-follicular estrogen levels and reported ideal number of children. In Study 2, analyses of facial cues in two independent samples of women showed that the average facial characteristics of women who reported desiring many children were rated as more feminine than those desiring fewer children. Collectively, these results support the proposal that maternal tendencies are related to physical feminization and that this effect may, at least in part, reflect the influence of the hormone estrogen.

The Impact of Equine Therapy and an Audio-Visual Approach Emphasizing Rhythm and Beat Perception in Children with Developmental Coordination Disorder.

Objectives: This study aims to investigate the impact of a therapeutic horse riding (HR) intervention and an audiovisual (AV) intervention comprising exposure to equine rhythm and motion on developmental parameters of children with Developmental Coordination Disorder (DCD). Design: The study design was a pretest/post-test. Settings/Location: The study took place in three locations across Ireland-St. Michael's Boys School in Mervue, Co Galway, The Hunt Museum in Limerick City, Co. Limerick, and Fettercairn Youth Horse Project in Tallaght, Co. Dublin. Subjects: Eighty-three children (6-14 years) with a primary diagnosis of DCD. Interventions: Children meeting the inclusion criteria were divided into three groups: HR, AV, and a control (C) group. Those in the intervention groups participated in eight 30 min HR lessons or AV screening sessions. Outcome measures: A Childhood Depression Inventory (CDI) measured signs of depression. A Childhood Behavior CheckList (CBCL) determined any behavioral and emotional problems, while a Social Responsiveness Scale (SRS) assessed the presence and extent of any social impairment. A GAITRite system provided an overall Functional Ambulation Performance (FAP) score (an automatic accumulated score of gait parameters, including gait speed, symmetry, distance, cadence, tension, support, and velocity), which was used to evaluate gait improvements. Results: Repeated measures analysis of variance revealed a main effect of time on all variables. Bonferroni post hoc tests revealed that these effects were due to significant improvements in both HR and AV groups for CDI, CBCL, and SRS, and significant improvements in the HR group only for FAP. Conclusions: This study provides initial evidence to support the value of an equine AV perception intervention at improving developmental parameters in children with DCD and provides additional support for the benefits of therapeutic HR on social, emotional, behavioral, and gait variables in these children.

Is priesthood an adaptive strategy? : Evidence from a historical Irish population.

This study examines the socioeconomic and familial background of Irish Catholic priests born between 1867 and 1911. Previous research has hypothesized that lack of marriage opportunities may influence adoption of celibacy as part of a religious institution. The present study traced data from Irish seminary registries for 46 Catholic priests born in County Limerick, Ireland, using 1901 Irish Census returns and Land Valuation records. Priests were more likely to originate from landholding backgrounds, and with landholdings greater in size and wealth than the local average. Priests were found to originate from families with more sons than the national average, but with similar numbers of daughters. These findings are discussed in relation to competition for resources and lineage survival strategies.

Detecting subtle facial emotion recognition deficits in high-functioning Autism using dynamic stimuli of varying intensities.

Autism Spectrum Disorders (ASD) are characterised by social and communication impairment, yet evidence for deficits in the ability to recognise facial expressions of basic emotions is conflicting. Many studies reporting no deficits have used stimuli that may be too simple (with associated ceiling effects), for example, 100% 'full-blown' expressions. In order to investigate subtle deficits in facial emotion recognition, 21 adolescent males with high-functioning Austism Spectrum Disorders (ASD) and 16 age and IQ matched typically developing control males completed a new sensitive test of facial emotion recognition which uses dynamic stimuli of varying intensities of expressions of the six basic emotions (Emotion Recognition Test; Montagne et al., 2007). Participants with ASD were found to be less accurate at processing the basic emotional expressions of disgust, anger and surprise; disgust recognition was most impaired--at 100% intensity and lower levels, whereas recognition of surprise and anger were intact at 100% but impaired at lower levels of intensity.

Skin blood perfusion and oxygenation colour affect perceived human health.

Skin blood perfusion and oxygenation depends upon cardiovascular, hormonal and circulatory health in humans and provides socio-sexual signals of underlying physiology, dominance and reproductive status in some primates. We allowed participants to manipulate colour calibrated facial photographs along empirically-measured oxygenated and deoxygenated blood colour axes both separately and simultaneously, to optimise healthy appearance. Participants increased skin blood colour, particularly oxygenated, above basal levels to optimise healthy appearance. We show, therefore, that skin blood perfusion and oxygenation influence perceived health in a way that may be important to mate choice.

Facial Skin Coloration Affects Perceived Health of Human Faces.

Numerous researchers have examined the effects of skin condition, including texture and color, on the perception of health, age, and attractiveness in human faces. They have focused on facial color distribution, homogeneity of pigmentation, or skin quality. We here investigate the role of overall skin color in determining perceptions of health from faces by allowing participants to manipulate the skin portions of color-calibrated Caucasian face photographs along CIELab color axes. To enhance healthy appearance, participants increased skin redness (a*), providing additional support for previous findings that skin blood color enhances the healthy appearance of faces. Participants also increased skin yellowness (b*) and lightness (L*), suggesting a role for high carotenoid and low melanin coloration in the healthy appearance of faces. The color preferences described here resemble the red and yellow color cues to health displayed by many species of nonhuman animals.

Effects of menstrual cycle phase on face preferences.

While many studies of face preferences have emphasized high agreement among individuals about the types of faces they consider attractive and unattractive, other studies have demonstrated systematic variation in face preferences. Here, we review the evidence that women's preferences for masculinity, apparent health, and self-resemblance in faces change systematically during the menstrual cycle. Our review focuses on the proximate mechanisms that might underpin these changes (i.e., what changes in hormone levels are important for effects of menstrual cycle phase) and the possible functions of these changes (i.e., to maximize the likelihood that offspring inherit strong immune systems or to increase the likelihood of successful pregnancy by either promoting affiliation with individuals who will provide support and care during pregnancy or by promoting strategies to avoid contagion during social interactions). While evidence that differentiates between these two accounts of the function of cyclic shifts in face preferences is currently equivocal for masculinity preferences, there is compelling evidence that the function of the effects of menstrual cycle phase on preferences for apparent health and self-resemblance in faces is to increase the likelihood of successful pregnancy.

Reproductive strategy, sexual development and attraction to facial characteristics.

Sexual reproduction strategies vary both between and within species in the level of investment in offspring. Life-history theories suggest that the rate of sexual maturation is critically linked to reproductive strategy, with high investment being associated with few offspring and delayed maturation. For humans, age of puberty and age of first sex are two developmental milestones that have been associated with reproductive strategies. Stress during early development can retard or accelerate sexual maturation and reproduction. Early age of menarche is associated with absence of younger siblings, absence of a father figure during early life and increased weight. Father absence during early life is also associated with early marriage, pregnancy and divorce. Choice of partner characteristics is critical to successful implementation of sexual strategies. It has been suggested that sexually dimorphic traits (including those evident in the face) signal high-quality immune function and reproductive status. Masculinity in males has also been associated with low investment in mate and offspring. Thus, women's reproductive strategy should be matched to the probability of male investment, hence to male masculinity. Our review leads us to predict associations between the rate of sexual maturation and adult preferences for facial characteristics (enhanced sexual dimorphism and attractiveness). We find for men, engaging in sex at an early age is related to an increased preference for feminized female faces. Similarly, for women, the earlier the age of first sex the greater the preference for masculinity in opposite-sex faces. When we controlled sexual dimorphism in male faces, the speed of sexual development in women was not associated with differences in preference for male facial attractiveness. These developmental influences on partner choice were not mediated by self-rated attractiveness or parental relationships. We conclude that individuals assort in preferences based on the rapidity of their sexual development. Fast developing individuals prefer opposite-sex partners with an increased level of sexually dimorphic facial characteristics.