Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome

Background Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC. Methods The present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis. Results There was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs2268490-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD). Conclusions This study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.

Drivers of in‐group and out‐of‐group electronic word‐of‐mouth (eWOM)

Purpose– The purpose of this study is to address a recent call for additional research on electronic word‐of‐mouth (eWOM). In response to this call, this study draws on the social network paradigm and the uses and gratification theory (UGT) to propose and empirically test a conceptual framework of key drivers of two types of eWOM, namely in‐group and out‐of‐group. Design/methodology/approach– The proposed model, which examines the impact of usage motivations on eWOM in‐group and eWOM out‐of‐group, is tested in a sample of 302 internet users in Portugal. Findings– Results from the survey show that the different drivers (i.e. mood‐enhancement, escapism, experiential learning and social interaction) vary in terms of their impact on the two different types of eWOM. Surprisingly, while results show a positive relationship between experiential learning and eWOM out‐of‐group, no relationship is found between experiential learning and eWOM in‐group. Research limitations/implications– This is the first study investigating the drivers of both eWOM in‐group and eWOM out‐of‐group. Additional research in this area will contribute to the development of a general theory of eWOM. Practical implications– By understanding the drivers of different eWOM types, this study provides guidance to marketing managers on how to allocate resources more efficiently in order to achieve the company's strategic objectives. Originality/value– No published study has investigated the determinants of these two types of eWOM. This is the first study offering empirical considerations of how the various drivers differentially impact eWOM in‐group and eWOM out‐of‐group.

The experience of friendship, victimization and bullying in children with an autism spectrum disorder: associations with child characteristics and school placement

Children with an autism spectrum disorder (ASD) may be vulnerable to social isolation and bullying. We measured the friendship, fighting/bullying and victimization experiences of 10–12-year-old children with an ASD (N = 100) using parent, teacher and child self-report. Parent and teacher reports were compared to an IQ-matched group of children with special educational needs (SEN) without ASD (N = 80) and UK population data. Parents and teachers reported a lower prevalence of friendships compared to population norms and to children with SEN without an ASD. Parents but not teachers reported higher levels of victimization than the SEN group. Half of the children with an ASD reported having friendships that involved mutuality. By teacher report children with an ASD who were less socially impaired in mainstream school experienced higher levels of victimization than more socially impaired children; whereas for more socially impaired children victimization did not vary by school placement. Strategies are required to support and improve the social interaction skills of children with an ASD, to enable them to develop and maintain meaningful peer friendships and avoid victimization.

Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome

Background Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. Methods In this study, we tested 34 SNPs in ARNT2 for association with AS in 118 cases and 412 controls of Caucasian origin. P values were adjusted for multiple comparisons, and linkage disequilibrium (LD) among the SNPs analysed was calculated in our sample. Finally, SNP annotation allowed functional and structural analyses of the genetic variants in ARNT2. We tested the replicability of our result using the genome-wide association studies (GWAS) database of the Psychiatric Genomics Consortium (PGC). Results We report statistically significant association of rs17225178 with AS. This SNP modifies transcription factor binding sites and regions that regulate the chromatin state in neural cell lines. It is also included in a LD block in our sample, alongside other genetic variants that alter chromatin regulatory regions in neural cells. Conclusions These findings demonstrate that rs17225178 in the ARNT2 gene is associated with AS and support previous studies that pointed out an involvement of this gene in the predisposition to ASC.

Atypical processing of voice sounds in infants at risk for Autism Spectrum Disorder

Adults diagnosed with autism spectrum disorder (ASD) show a reduced sensitivity (degree of selective response) to social stimuli such as human voices. In order to determine whether this reduced sensitivity is a consequence of years of poor social interaction and communication or is present prior to significant experience, we used functional MRI to examine cortical sensitivity to auditory stimuli in infants at high familial risk for later emerging ASD (HR group, N = 15), and compared this to infants with no family history of ASD (LR group, N = 18). The infants (aged between 4 and 7 months) were presented with voice and environmental sounds while asleep in the scanner and their behaviour was also examined in the context of observed parent-infant interaction. Whereas LR infants showed early specialisation for human voice processing in right temporal and medial frontal regions, the HR infants did not. Similarly, LR infants showed stronger sensitivity than HR infants to sad vocalisations in the right fusiform gyrus and left hippocampus. Also, in the HR group only, there was an association between each infant's degree of engagement during social interaction and the degree of voice sensitivity in key cortical regions. These results suggest that at least some infants at high-risk for ASD have atypical neural responses to human voice with and without emotional valence. Further exploration of the relationship between behaviour during social interaction and voice processing may help better understand the mechanisms that lead to different outcomes in at risk populations.

‘I like playing on my trampoline; it makes me feel alive’ valuing physical activity: perceptions and meanings for children and implications for primary schools

This study investigated perceptions that children aged 6–10 years (n = 83) have of what it means to be physically active. Ideographic research was conducted utilising drawings and interviews to understand values that are placed on participating in physical activity (PA). The article questions the idea that whilst it may be commonly accepted by academics that there is a need to be active for health, little research has considered what this may actually mean for the child. Drawing on Bourdieu, the article utilises key concepts within the analysis of ‘capital' to frame an understanding of how children experience PA. Findings suggest that central to children's experiences is the place of social interaction and reciprocation. The article investigated the production and transference of forms of capital: physical, cultural and social. The potential for such concepts to be exploited by schools is discussed with reference to physical education and opportunities offered during free play.

A pooled genome-wide association study of Asperger Syndrome

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Spontaneous facial mimicry is modulated by joint attention and autistic traits

Joint attention (JA) and spontaneous facial mimicry (SFM) are fundamental processes in social interactions, and they are closely related to empathic abilities. When tested independently, both of these processes have been usually observed to be atypical in individuals with autism spectrum conditions (ASC). However, it is not known how these processes interact with each other in relation to autistic traits. This study addresses this question by testing the impact of JA on SFM of happy faces using a truly interactive paradigm. Sixty-two neurotypical participants engaged in gaze-based social interaction with an anthropomorphic, gaze-contingent virtual agent. The agent either established JA by initiating eye contact or looked away, before looking at an object and expressing happiness or disgust. Eye tracking was used to make the agent's gaze behavior and facial actions contingent to the participants' gaze. SFM of happy expressions was measured by Electromyography (EMG) recording over the Zygomaticus Major muscle. Results showed that JA augments SFM in individuals with low compared with high autistic traits. These findings are in line with reports of reduced impact of JA on action imitation in individuals with ASC. Moreover, they suggest that investigating atypical interactions between empathic processes, instead of testing these processes individually, might be crucial to understanding the nature of social deficits in autism

Online orthographies

The representation in online environments of non-Roman-based script languages has proved problematic. During the initial years of Computer-mediated Communication, the American Standard Code for Information Interchange character set only supported Roman-alphabeted languages. The solution for speakers of languages written in non-Roman scripts was to employ unconventional writing systems, in an effort to represent their native language in online discourse. The first aim of this chapter is to present the different ways that internet users choose to transliterate or even transcribe their native languages online, using Roman characters. With technological development, and consequently the availability of various writing scripts online, internet users now have the option to either use Roman characters or their native script. If the latter is chosen, internet users still seem to deviate from conventional ways of writing, in this case, however, with regards to spelling. The second aim, therefore, is to bring into light recent developments, by looking at the ways that internet users manipulate orthography, to achieve their communicative purposes.

Family language policy in the Chinese community in Singapore: a question of balance?

This paper focuses on the language shift phenomenon in Singapore as a consequence of the top-town policies. By looking at bilingual family language policies it examines the characteristics of Singapore’s multilingual nature and cultural diversity. Specifically, it looks at what languages are practiced and how family language policies are enacted in Singaporean English-Chinese bilingual families, and to what extend macro language policies – i.e. national and educational language policies influence and interact with family language policies. Involving 545 families and including parents and grandparents as participants, the study traces the trajectory of the policy history. Data sources include 2 parts: 1) a prescribed linguistic practices survey; and 2) participant observation of actual negotiation of FLP in face-to-face social interaction in bilingual English-Chinese families. The data provides valuable information on how family language policy is enacted and language practices are negotiated, and what linguistic practices have been changed and abandoned against the background of the Speaking Mandarin Campaign and the current bilingual policy implemented in the 1970s. Importantly, the detailed face-to-face interactions and linguistics practices are able to enhance our understanding of the subtleties and processes of language (dis)continuity in relation to policy interventions. The study also discusses the reality of language management measures in contrast to the government’s ‘separate bilingualism’ (Creese & Blackledge, 2011) expectations with regard to ‘striking a balance’ between Asian and Western culture (Curdt-Christiansen & Silver 2013; Shepherd, 2005) and between English and mother tongue languages (Curdt-Christiansen, 2014). Demonstrating how parents and children negotiate their family language policy through translanguaging or heteroglossia practices (Canagarajah, 2013; Garcia & Li Wei, 2014), this paper argues that ‘striking a balance’ as a political ideology places emphasis on discrete and separate notions of cultural and linguistic categorization and thus downplays the significant influences from historical, political and sociolinguistic contexts in which people find themselves. This simplistic view of culture and linguistic code will inevitably constrain individuals’ language expression as it regards code switching and translanguaging as delimited and incompetent language behaviour.

Human resource allocation management in multiple projects using sociometric techniques

This article describes a new application of key psychological concepts in the area of Sociometry for the selection of workers within organizations in which projects are developed. The project manager can use a new procedure to determine which individuals should be chosen from a given pool of resources and how to combine them into one or several simultaneous groups/projects in order to assure the highest possible overall work efficiency from the standpoint of social interaction. The optimization process was carried out by means of matrix calculations performed using a computer or even manually, and based on a number of new ratios generated ad-hoc and composed on the basis of indices frequently used in Sociometry.

A comprehensive meta-analysis of common genetic variants in autism spectrum conditions

Background Autism spectrum conditions (ASC) are a group of neurodevelopmental conditions characterized by difficulties in social interaction and communication alongside repetitive and stereotyped behaviours. ASC are heritable, and common genetic variants contribute substantial phenotypic variability. More than 600 genes have been implicated in ASC to date. However, a comprehensive investigation of candidate gene association studies in ASC is lacking. Methods In this study, we systematically reviewed the literature for association studies for 552 genes associated with ASC. We identified 58 common genetic variants in 27 genes that have been investigated in three or more independent cohorts and conducted a meta-analysis for 55 of these variants. We investigated publication bias and sensitivity and performed stratified analyses for a subset of these variants. Results We identified 15 variants nominally significant for the mean effect size, 8 of which had P values below a threshold of significance of 0.01. Of these 15 variants, 11 were re-investigated for effect sizes and significance in the larger Psychiatric Genomics Consortium dataset, and none of them were significant. Effect direction for 8 of the 11 variants were concordant between both the datasets, although the correlation between the effect sizes from the two datasets was poor and non-significant. Conclusions This is the first study to comprehensively examine common variants in candidate genes for ASC through meta-analysis. While for majority of the variants, the total sample size was above 500 cases and 500 controls, the total sample size was not large enough to accurately identify common variants that contribute to the aetiology of ASC.

Marketing the Damaged Self: The Construction of Identity in Advertisements Directed Towards People with HIV/AIDS

This paper explores the identities projected in advertisements directed towards HIV positive individuals and people with AIDS. Fifty such advertisements were collected from three popular American magazines for gay men over a period of seven months. Analysis of the ads reveals a paradoxical presentation of people with HIV/AIDS, which offers simultaneous conflicting images of hope and fear, power and weakness, innocence and guilt. An interactive sociolinguistic model through which this contradictory discourse might be understood is presented, drawing on Goffman’s insights on stigma management and the presentation of the self in social interaction. Advertisements directed towards people with HIV/AIDS, it is suggested, present a contradictory discourse in which the advertisers are positioned as ‘the wise’, offering to mediate the conflicting identities of the stigmatized. The identity values enacted in this contradictory discourse are further measured against American conceptions of communication and the self as observed by Carbaugh and others. The possible consequences of these positionings on the roles made available to people with HIV/AIDS in the wider social context are discussed.