Genome-wide screening for DNA variants associated with reading and language traits

Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome-wide association scan (GWAS) meta-analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading- and language-related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P≈10 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on-going international efforts to identify genes contributing to reading and language skills. Genome-wide association scan meta-analysis for reading and language ability. © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Who gives a damn about intellectually disabled people and their families? Care-less spaces personified in the case of LB

On 5 October 2015 the inquest into Connor Sparrowhawk’s death began. A young autistic man, aged 18, died in the bath on 4 July 2013. He had a seizure. The rolling tweets from @LBInquest are harrowing to say the least. Unimaginable torture for Sara and Richard (his mother and step-father), as well as his siblings and others caring. Comments from the inquest such as ‘I felt that Connor should be checked on every 5 or 10 minutes when he was in the bath because of his epilepsy’ and ‘ensuring someone was outside the door when he was bathing was basic nursing care’ sound all the alarm bells for lack of care, because allegedly this did not happen. Clearly there was no one person looking out for him when he needed it the most. On 16 October 2015 the inquest jury found Connor’s death was contributed by neglect. This article will explore the absence of care in a care-less system.

Sibling relations in preadolescence and adolescence: Compensatory and buffering effects

The current study is an examination of how support from siblings relates to psychological and academic well-being in preadolescence and adolescence in general, and the buffering and compensatory effects of sibling support in particular. Participants for the study were 694 African-American, European-American, and Hispanic-American students in grades 6 and 8. Participants were interviewed in school regarding their social support, ecological risk, and psychological well-being. Academic well-being was assessed using teacher reports and school records. Hierarchical regression analyses indicated that greater brother support was associated with more positive school attitudes and with higher overall self-esteem. In addition, sister support moderated the relationship between ecological risk and school adaptation. In terms of a compensatory effect, students under low mother support conditions receiving greater support from brothers, and students under low friend support conditions receiving greater support from brothers exhibited higher school achievement. The potential benefits of sibling support warrant a closer examination of the wide ranging issues involved in sibling relations. ^

Constructing literacy: Disadvantaged Irish mothers' attempts at developing literacy with their preschool children during storybook reading and jigsaw puzzle building

Early childhood research beginning in the 1960s has focused on the literacy experiences of preschool children in the home and the contribution of those experiences to later school success. Decades of research since then have investigated learning experiences of preschool children as they interacted with caregivers, siblings or peers prior to formal schooling (Durkin, 1966; Heath, 1983). ^ In this qualitative investigation into early literacy events that occur between disadvantaged Irish mothers and their children, four research questions were investigated. (1) How do disadvantaged Irish mothers engage their preschool children in literacy events such as storybook reading and jigsaw puzzle building? (2) How does the mother's previous school experience affect her role as the child's first teacher? (3) How does the culture of the neighborhood affect the child's developing literacy? (4) What risk factors inhibit literacy development in these Irish children? ^ This study examined the conversational exchanges between three disadvantaged Irish mothers and their preschool children living near Dublin, Ireland, as the mothers read a storybook to their children and assisted them in jigsaw puzzle building. Conversations were recorded, transcribed and analyzed into reading skill and teaching strategy categories for the purpose of determining the mothers' literacy intent during her turn. Journal notes, field notes and interviews with the mothers recorded other information and allowed for triangulation of data. ^ The results of this investigation indicated four findings. The first finding was that these disadvantaged mothers employed many of the same techniques that classroom teachers use during the reading lesson. They attempted high-level and low-level questions, teaching strategies, and other interactions that are so familiar in the classroom. The second finding was that jigsaw puzzle building produced a richer literacy interaction than storybook reading. The third finding was that the environment of the disadvantaged neighborhood posed many risks to children's literacy development. A final finding was that the mothers used thinking out loud behavior to vocalize their inner thoughts during literacy interactions. ^ Future research suggests studying mother/child dyads in other socio-economic environments and cultures to determine if other mothers practice the same skills and strategies as these mothers. ^

From foster care to college: Young adults' perceptions of factors that impacted their academic achievement

Despite increased Federal, state, and local efforts in the United States to improve outcomes among young adults who emancipate from foster care, low educational achievement and attainment continue to characterize this vulnerable subpopulation. Approximately 50% of foster children do not obtain a high school diploma or a general equivalency diploma (GED). Only about 20% of former foster children enroll in college, compared to 60% of youth not in foster care. The purpose of this study was to explore, describe and explain the perceptions of college students who had lived in foster care regarding the external and internal influences that impacted their academic achievement and attainment. Interviews with a purposefully selected sample of 24 Florida college students were conducted; transcripts were coded and analyzed thematically. Findings included that participants experienced a particular set of external and internal influences at school, in foster care settings, and in the community. External influences include interactions with (a) multiple non-relative guardians and case workers, (b) relatives, especially siblings, (c) mentors, (d) teachers and school administrators, and (e) school counselors. Internal influences include the barriers of anger and bad behavior and a newly identified set of internal characteristics, called success strengths by the researcher, that promote academic achievement and college attainment. Implications are as follows: (a) Future theory on academic achievement concerning foster youth should reflect the importance of the affective aspect of school interactions. (b) Policy should mandate awareness training for educators, social workers, and other adults who work with former foster youth to increase professionals' awareness of the barriers, supports and success strengths that impact the academic lives of children and youth in foster care. (c) Adult educators and human resource development professionals should develop and implement appropriate new education and training materials and interventions. Future research may include a similar interview with former foster youth who graduated from college and with foster youth who leave school before graduating. Finally, a study with a nationally representative sample of college enrolled former foster children should be conducted to determine the relative importance of the barriers, supports and success strengths identified in this study.

``This is your brain on drugs'': The public policy of anti -drug programming. An exploratory analysis of media and other sources of drug information for adolescents

In the 1980s, government agencies sought to utilize research on drug use prevention to design media campaigns. Enlisting the assistance of the national media, several campaigns were designed and initiated to bring anti-drug use messages to adolescents in the form of public service advertising. This research explores the sources of information selected by adolescents in grades 7 through 12 and how the selection of media and other sources of information relate to drug use behavior and attitudes and perceptions related to risk/harm and disapproval of friends' drug-using activities.^ Data collected from 1989 to 1992 in the Miami Coalition School Survey provided a random selection of secondary school studies. The responses of these students were analyzed using multivariate statistical techniques.^ Although many of the students selected media as the source for most of their information on the effects of drugs on the people who use them, the selection of media was found to be positively related to alcohol use and negatively related to marijuana use. The selection of friends, brothers, or sisters was a statistically significant source for adolescents who smoke cigarettes, use alcohol or marijuana.^ The results indicate that the anti-drug use messages received by students may be canceled out by media messages perceived to advocate substance use and that a more persuasive source of information for adolescents may be friends and siblings. As federal reports suggest that the economic costs of drug abuse will reach an estimated $150 billion by 1997 if current trends continue, prevention policy that addresses the glamorization of substance use remains a national priority. Additionally, programs that advocate prevention within the peer cluster must be supported, as peers are an influential source for both inspiring and possibly preventing drug use behavior. ^

Determinants of Waterpipe and Cigarette Smoking Progression among a School Based Sample of Adolescents in Irbid, Jordan: A Three-Year Longitudinal Study (2008-2011)

The prevalence of waterpipe smoking exceeds that of cigarettes among adolescents in the Middle East where waterpipe is believed as less harmful, less addictive and can be a safer alternative to cigarettes. This dissertation tested the gateway hypothesis that waterpipe can provide a bridge to initiate cigarette smoking, identified the predictors of cigarette smoking progression, and identified predictors of waterpipe smoking progression among a school-based sample of Jordanian adolescents (mean age ± SD) (12.7 ±0.61) years at baseline. Data for this research have been drawn from Irbid Longitudinal Study of smoking behavior, Jordan (2008-2011). The grouped-time survival analysis showed that waterpipe smoking was associated with a higher risk of cigarette smoking initiation compared to never smokers (P < 0.001) and this association was dose dependent (P < 0.001). Predictors of cigarette smoking progression were peer smoking and attending public schools for boys, siblings’ smoking for girls, and the urge to smoke for both genders. Predictors of waterpipe smoking progression were enrollment in public schools, frequent physical activity, and low refusal self-efficacy for boys, ever smoking cigarettes, friends’ and siblings’ waterpipe smoking for girls. Awareness of harms of waterpipe among boys and seeing warning labels on the tobacco packs by girls were protective against waterpipe smoking progression. In Conclusion, waterpipe can serve as a gateway to cigarette smoking initiation among adolescents. Waterpipe and cigarette smoking progressions among initiators were solely family-related among girls, and mainly peer-related among boys. The unique gender differences for both cigarette and waterpipe smoking among Jordanian adolescents in Irbid call for cultural and gender-specific smoking prevention interventions to prevent the progression of smoking among initiators.

Comparison of parental perception and therapist interpretation of child's performance of the Peabody Fine Motor Scale

Public Law 102-119 (Individuals with Disabilities Education Act of 1991), mandates that family members, if they wish, participate in developing a plan of treatment for their child. Traditionally, therapist have not relied on parental assessments based upon the assumption that parents overestimate their child's abilities. The present study compared parental perceptions about the developmental status of their child's fine motor abilities to the therapist's interpretation of a standardized assessment using the Peabody Developmental Motor Scale (Fine Motor). Thirty seven children, enrolled in an early intervention program, and their parents were recruited for the study. The results indicated that the parents and the therapist estimates were highly correlated and showed no significant differences when paired t-tests were computed for developmental ages and scaled scores. However, analyses of variances were significantly correlated for gender and number of siblings.

Histórias de adoção tardia: considerações a partir da analítica existencial heideggeriana

Adoption establishes a filiation status, resulting from a legal act, which attributes to the child and parents the rights and obligations associated with such condition, being legally irrevocable. Nevertheless, in practice there are adoptions that do not concretize and the child returns to justice during or even after the legal process is closed. Late adoption is the denomination of the adoption of children over two years and it is still permeated by myths and stigmas, leading to a frequent return of the child to justice in these cases. The late adoption involves a process of building a unique relationship with a child whose backstory is commonly marked by the dissolution of the relationship with the family of origin, due to violation of rights and, in some cases, the experience of institutional care. Given such a scenario, this research, based on the Existential Analytic proposed by Martin Heidegger, seeks to understand the experience of mothers and children in the process of late adoption, in order to obtain subsidies to psychological attention in this context. This is a qualitative, phenomenological study with a comprehensive focus. The participants were two mothers and two children who have gone through late adoption for about two years. The procedures of data generation contemplated narrative interviews with mothers and individual meetings with children, in which ludic resources were used as mediators of expression (free drawings, unfinished children's story and "Story-Drawings" on late adoption). The procedures were audiotaped and transcribed. Data analysis was grounded in Heidegger's hermeneutics. The late adoption process, permeated by historical, social and cultural determinants and the web of meanings that create the historical singularity of each person involved have proved to be complex as seen in the narratives. The construction of the meanings of parenthood and filiation has been developing in the families in the study, from the experience of being-with-the-other, caring and dwelling in their peculiar modes of expression. The family of origin and the adoptive family mingle and differentiate by means of the experience of children, especially because of the existence of biological siblings. Data point to the importance of psychological care to family core in late adoption processes

Obstetric mode of delivery and child psychological development

Background/aims: Objective of the current thesis is to investigate the potential impact of birth by Caesarean section (CS) on child psychological development, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), behavioural difficulties and school performance. Structure/methods: Published literature to date on birth by CS, ASD and ADHD was reviewed (Chapter 2). Data from the UK Millennium Cohort Study (MCS) were analysed to determine the association between CS and ASD, ADHD and parent-reported behavioural difficulties (Chapter 3). The Swedish National Registers were used to further assess the association with ASD, ADHD and school performance (Chapters 4-6). Results: In the review, children born by CS were 23% more likely to be diagnosed with ASD after controlling for potential confounders. Only two studies reported adjusted estimates on the association between birth by CS and ADHD, results were conflicting and limited. CS was not associated with ASD, ADHD or behavioural difficulties in the UK MCS. In the Swedish National Registers, children born by CS were more likely to be diagnosed with ASD or ADHD. The association with elective CS did not persist when compared amongst siblings. There was little evidence of an association between birth by elective CS and poor school performance. Children born by elective CS had slight reduction in school performance. Conclusions: The lack of association with the elective CS in the sibling design studies indicates that the association in the population is most probably due to confounding. A small but significant association was found between birth by CS and school performance. However, the effect may have been due to residual confounding or confounding by indication and should be interpreted with caution. The overall conclusion is that birth by CS does not appear to have a causal relationship with the aspects of child psychological development investigated.

The differential impact of oxytocin receptor (OXTR) genotypes on the risk of autism spectrum disorder (ASD) and resulting social communication deficits

Background: Autism spectrum disorder (ASD) is multifactorial and is likely the result of complex interactions between multiple environmental and genetic factors. Recently, it has been suggested that each symptom cluster of the disorder, such as poor social communication, may be mediated by different genetic influences. Genes in the oxytocin pathway, which mediates social behaviours in humans, have been studied with single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) being implicated in ASD. This thesis examines the presence of different oxytocin receptor genotypes, and their associations with ASD and resulting social communication deficits. Methods: The relationship between four OXTR variants and ASD was evaluated in 607 ASD simplex (SPX) families. Cases were compared to their unaffected siblings using a conditional logistic approach. Odds ratios and associated 95 percent confidence intervals were obtained. A second sample of 235 individuals with a diagnosis of ASD was examined to evaluate whether these four OXTR variants were associated with social communication scores on the Autism Diagnostic Interview – Revised (ADI-R). Parameter estimates and associated 95 percent confidence intervals were generated using a linear regression approach. Multiple testing issues were addressed using false discovery adjustments. Results: The rs53576 AG genotype was significantly associated with a lower risk of ASD (OR = 0.707, 95% CI: 0.512-0.975). A single genotype (AG) provided by the rs2254298 marker was found to be significantly associated with higher social communication scores (Parameter estimate = 1.833, SE = 0.762, p = 0.0171). This association was also seen in a Caucasian only and mothers as the respondent samples. No association was significant following false discovery rate adjustments. Conclusion: The findings from these studies provide limited support for the role of OXTR SNPs in ASD, especially in social communication skills. The clinical significance of these associations remains unknown, however, it is likely that these associations do not play a role in the severity of symptoms associated with ASD. Rather, they may be important in the appearance of social deficits due to the rs2254298 markers association with enlarged amygdalas.

Understandings of transnational families in debates on Migration and development

International migration sets in motion a range of significant transnational processes that connect countries and people. How migration interacts with development and how policies might promote and enhance such interactions have, since the turn of the millennium, gained attention on the international agenda. The recognition that transnational practices connect migrants and their families across sending and receiving societies forms part of this debate. The ways in which policy debate employs and understands transnational family ties nevertheless remain underexplored. This article sets out to discern the understandings of the family in two (often intermingled) debates concerned with transnational interactions: The largely state and policydriven discourse on the potential benefits of migration on economic development, and the largely academic transnational family literature focusing on issues of care and the micro-politics of gender and generation. Emphasizing the relation between diverse migration-development dynamics and specific family positions, we ask whether an analytical point of departure in respective transnational motherhood, fatherhood or childhood is linked to emphasizing certain outcomes. We conclude by sketching important strands of inclusions and exclusions of family matters in policy discourse and suggest ways to better integrate a transnational family perspective in global migration-development policy.

Correlation between anxiety and academic self-concept in interpreter trainees

This paper focuses on two basic issues: the anxiety-generating nature of the interpreting task and the relevance of interpreter trainees’ academic self-concept. The first has already been acknowledged, although not extensively researched, in several papers, and the second has only been mentioned briefly in interpreting literature. This study seeks to examine the relationship between the anxiety and academic self-concept constructs among interpreter trainees. An adapted version of the Foreign Language Anxiety Scale (Horwitz et al., 1986), the Academic Autoconcept Scale (Schmidt, Messoulam & Molina, 2008) and a background information questionnaire were used to collect data. Students’ t-Test analysis results indicated that female students reported experiencing significantly higher levels of anxiety than male students. No significant gender difference in self-concept levels was found. Correlation analysis results suggested, on the one hand, that younger would-be interpreters suffered from higher anxiety levels and students with higher marks tended to have lower anxiety levels; and, on the other hand, that younger students had lower self-concept levels and higher-ability students held higher self-concept levels. In addition, the results revealed that students with higher anxiety levels tended to have lower self-concept levels. Based on these findings, recommendations for interpreting pedagogy are discussed.

‘Poor prison flowers’: convict mothers and their children in Ireland, 1853-1900

Pregnant women and mothers were among the thousands of individuals who were sentenced to at least three years’ penal servitude and admitted to the nineteenth-century Irish female convict prison. While some babies were born behind bars, others were permitted to accompany their convicted mothers into the prison after the penal practice of transportation had ceased. Other dependent children were separated from their convicted mothers for years, cared for by family members or friends, or accommodated in Ireland’s growing web of institutions. Using individual case studies, this article focuses on convict mothers and their young offspring. It draws attention to the increasing restrictions on the admission of infants that were imposed as the nineteenth century progressed, the problems that children of various ages in the penal system seemed to pose for officials, and the difficulties faced by incarcerated mothers who wished to maintain communication with their offspring. This article argues that while there were benefits to parenting within the confines of the prison, sentences of penal servitude had a significant impact on the lives of dependent offspring by dislocating families, separating siblings, or initiating institutional or other care that broke familial bonds permanently. In so doing, the article reveals attitudes towards motherhood as well as female criminality and institutionalization generally during this period and sheds light on an aspect of convict life unique to the women’s prison.