Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Aim: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method: Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results: In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation: The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Analysis of functional materials by X-ray photoelectron spectroscopy

X-ray photoelectron spectroscopy (XPS) can play an important role in guiding the design of new materials, tailored to meet increasingly stringent constraints on performance devices, by providing insight into their surface compositions and the fundamental interactions between the surfaces and the environment. This chapter outlines the principles and application of XPS as a versatile, chemically specific analytical tool in determining the electronic structures and (usually surface) compositions of constituent elements within diverse functional materials. Advances in detector electronics have opened the way for development of photoelectron microscopes and instruments with XPS imaging capabilities. Advances in surface science instrumentation to enable time-resolved spectroscopic measurements offer exciting opportunities to quantitatively investigate the composition, structure and dynamics of working catalyst surfaces. Attempts to study the effects of material processing in realistic environments currently involves the use of high- or ambient-pressure XPS in which samples can be exposed to reactive environments.

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population

Background - Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this gene are also risk factors for type 2 diabetes development in a UK-resident South Asian cohort of Punjabi ancestry. Methods - We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, rs7903146, rs11196205 and rs12255372) in 831 subjects with diabetes and 437 control subjects. Results - The minor allele of each variant was significantly associated with type 2 diabetes; the greatest risk of developing the disease was conferred by rs7903146, with an allelic odds ratio (OR) of 1.31 (95% CI: 1.11 – 1.56, p = 1.96 × 10-3). For each variant, disease risk associated with homozygosity for the minor allele was greater than that for heterozygotes, with the exception of rs12255372. To determine the effect on the observed associations of including young control subjects in our data set, we reanalysed the data using subsets of the control group defined by different minimum age thresholds. Increasing the minimum age of our control subjects resulted in a corresponding increase in OR for all variants of the gene (p ≤ 1.04 × 10-7). Conclusion - Our results support recent findings that TCF7L2 is an important genetic risk factor for the development of type 2 diabetes in multiple ethnic groups.

What factors influence concordance with medications? Findings from the UK Asian Diabetes study

Aims: To investigate concordance with medication, as assessed at baseline and at 1- and 2-year follow-up, and to examine factors associated with non-concordance in a UK-resident South-Asian population. Methods: Data from the UK Asian Diabetes Study were analysed. Concordance with medications was assessed and recorded at three time points during the study. Multiple logistic regression was used to investigate the factors associated with non-concordance; the associations of baseline factors with year 1 concordance and baseline plus year 1 factors with year 2 concordance. Results: Data for 403 patients from seven practices participating in the UK Asian Diabetes Study were analysed. The numbers of patients who were non-concordant were: 63 (16%) at baseline 101 (25%) at year 1; and 122 (30%) at year 2. The baseline-measured variables that were significantly associated with year 1 non-concordance included diabetes duration, history of cardiovascular disease, components of the EuroQol quality of life questionnaire, the EQ-5D score, and number of medications prescribed. In multivariable analyses, the most important determinant of year 1 non-concordance was baseline non-concordance: odds ratio 13.6 (95% confidence limits 4.7, 39.9). Number of medications prescribed for blood pressure control was also significant: odds ratio 1.8 (95% confidence limits 1.4, 2.4). Similar results were observed for year 2 non-concordance. Conclusions: Non-concordance with medications was common and more likely in people prescribed more medications. The current target-driven management of risk factor levels may lead to increasing numbers and doses of medications. Considering the high cost of medications and the implications of poor health behaviours on morbidity and mortality, further investigation of prescribing behaviours and the factors affecting patient concordance are required.

Factors predicting recommendations for civil commitment of sexually violent predators under Florida's Jimmy Ryce Act

This study investigated the factors considered by forensic examiners when evaluating sexually violent predators (SVP) for civil commitment under Florida's “Jimmy Ryce Act.” The project was funded by a pre-doctoral research grant awarded by the Association for the Treatment of Sexual Abusers (ATSA). ^ This study proposed two specific research questions. First, what is the direct relationship between actuarial risk assessment scores and recommendations for sex offender civil commitment? Second, which other variables are likely to influence SVP commitment decisions, and to what degree? The purpose of the study was to determine if risk assessment practices are evidence-based, and whether offenders selected for commitment meet statutory criteria. ^ The purposive sample of 450 SVPs was drawn from the population of sex offenders evaluated for civil commitment in Florida between July 1, 2000 and June 30, 2001. Data were extracted from SVP evaluations provided by the Florida Department of Children and Families. Using multivariate logistic regression, this correlational research design examined the relationship between the dependent variable, commitment decision, and several sets of independent variables. The independent variables were derived from a review of the literature, and were grouped conceptually according to their degree of correlation with sex offense recidivism. Independent variables included diagnoses, actuarial risk assessment scores, empirically validated static and dynamic risk factors, consensus based risk factors, evaluator characteristics, and demographics. This study investigated the degree to which the identified variables predicted civil commitment decisions. ^ Logistic regression results revealed that the statistically significant predictors of recommendations for sex offender civil commitment were actuarial risk assessment scores, diagnoses of Pedophilia and Paraphilia NOS, psychopathy, younger age of victim, and non-minority race. Discriminant function analysis confirmed that these variables correctly predicted commitment decisions in 90% of cases. ^ It appears that civil commitment evaluators in Florida used empirically-based assessment procedures, and did not make decisions that were heavily influenced by extraneous factors. SVPs recommended for commitment consistently met the criteria set forth by the U.S. Supreme Court in Hendricks v. Kansas (1997): they suffered from a mental abnormality predisposing them to sexual violence, and risk assessment determined that they were likely to reoffend. ^

Windscapes shape seabird instantaneous energy costs but adult behavior buffers impact on offspring

Acknowledgements K. Ashbrook, M. Barrueto, K. Elner, A. Hargreaves, S. Jacobs, G. Lancton, M. LeVaillant, E. Grosbellet, A. Moody, A. Ronston, J. Provencher, P. Smith, K. Woo and P. Woodward helped in the field. J. Nakoolak kept us safe from bears. N. Sapir and two anonymous reviewers provided very useful comments on an earlier version of our manuscript. R. Armstrong at the Nunavut Research Institute, M. Mallory at the Canadian Wildlife Service Northern Research Division and C. Eberl at National Wildlife Research Centre in Ottawa provided logistical support. F. Crenner, N. Chatelain and M. Brucker customized the GPS at the IPHC-CNRS. KHE received financial support through a NSERC Vanier Canada Graduate Scholarship, ACUNS Garfield Weston Northern Studies scholarship and AINA Jennifer Robinson Scholarship and JFH received NSERC Discovery Grant funding. J. Welcker generously loaned some accelerometers. All procedures were approved under the guidelines of the Canadian Council for Animal Care.

Social Decision-Making in Bonobos and Chimpanzees

Humans are natural politicians. We obsessively collect social information that is both observable (e.g., about third-party relationships) and unobservable (e.g., about others’ psychological states), and we strategically employ that information to manage our cooperative and competitive relationships. To what extent are these abilities unique to our species, and how did they evolve? The present dissertation seeks to contribute to these two questions. To do so, I take a comparative perspective, investigating social decision-making in humans’ closest living relatives, bonobos and chimpanzees. In Chapter 1, I review existing literature on theory of mind—or the ability to understand others’ psychological states—in these species. I also present a theoretical framework to guide further investigation of social cognition in bonobos and chimpanzees based on hypotheses about the proximate and ultimate origins of their species differences. In Chapter 2, I experimentally investigate differences in the prosocial behavior of bonobos and chimpanzees, revealing species-specific prosocial motivations that appear to be less flexible than those exhibited by humans. In Chapter 3, I explore through decision-making experiments bonobos’ ability to evaluate others based on their prosocial or antisocial behavior during third-party interactions. Bonobos do track the interactions of third-parties and evaluate actors based on these interactions. However, they do not exhibit the human preference for those who are prosocial towards others, instead consistently favoring an antisocial individual. The motivation to prefer those who demonstrate a prosocial disposition may be a unique feature of human psychology that contributes to our ultra-cooperative nature. In Chapter 4, I investigate the adaptive value of social cognition in wild primates. I show that the recruitment behavior of wild chimpanzees at Gombe National Park, Tanzania is consistent with the use of third-party knowledge, and that those who appear to use third-party knowledge receive immediate proximate benefits. They escape further aggression from their opponents. These findings directly support the social intelligence hypothesis that social cognition has evolved in response to the demands of competing with one’s own group-mates. Thus, the studies presented here help to better characterize the features of social decision-making that are unique to humans, and how these abilities evolved.

THE DARK PERSONALITY AND JOB SUCCESS IN THE UNITED STATES ARMY: USE OF INTERPERSONAL MANIPULATION IN THE WORKPLACE

This dissertation relates job desires and outcomes to the Dark Personality (Psychopathy, Machiavellianism, Narcissism, Low Agreeableness, Low Honesty-Humility) in the United States Army. It purports that individuals high on the Dark Personality desire more power, money, and status, and that they obtain jobs that afford them these luxuries by using manipulation at work. Two pilot studies used samples of United States Army members to create and test index variables: Dark Personality, Total Manipulation in the workplace, Desire for Job Success, and Total Job Success in the Army. Individual personality traits, manipulation tactics, and job desires were examined in secondary analyses. Using a sample of 468 United States Army Members, central analyses indicated that Army members high on the Dark Personality desired Job Success. Likewise, army members higher on the Dark Personality used more Manipulation tactics at work, including the egregious tactics. Yet, using more Manipulation tactics at work predicted lower levels of Job Success in the Army. Most manipulation tactics had a negative impact on Job Success, with the exception of soft tactics like Reason and Responsibility Invocation. Together, these results indicate that selective use of soft manipulation predicted Job Success, but use of more manipulation tactics predicted less Job Success in the Army. Curvilinear results indicated that being either very low or very high on the Dark Personality predicted more Job Success in the Army, whereas having intermediate levels of the Dark Personality predicted less Job Success. Finally, possessing the Dark Personality and using more Manipulation tactics at work, together, predicted less Job Success in the Army. Collectively, the results indicate that army members with intermediate levels of the Dark Personality want more powerful and high paying jobs, yet their strategy of manipulating their coworkers to move up the job ladder does not result in higher ranking, higher paying Army positions. However, Army members highest on the Dark Personality achieved job success, defying the maladaptive influence that antisocial personality traits and manipulative behaviour had on job success for most Army members. Therefore, this dissertation indicates that successful corporate scoundrels exist in the Army, but there are few of them.

Task sharing within a managed clinical network to improve child health in Malawi

BACKGROUND: Eighty per cent of Malawi's 8 million children live in rural areas, and there is an extensive tiered health system infrastructure from village health clinics to district hospitals which refers patients to one of the four central hospitals. The clinics and district hospitals are staffed by nurses, non-physician clinicians and recently qualified doctors. There are 16 paediatric specialists working in two of the four central hospitals which serve the urban population as well as accepting referrals from district hospitals. In order to provide expert paediatric care as close to home as possible, we describe our plan to task share within a managed clinical network and our hypothesis that this will improve paediatric care and child health.

PRESENTATION OF THE HYPOTHESIS: Managed clinical networks have been found to improve equity of care in rural districts and to ensure that the correct care is provided as close to home as possible. A network for paediatric care in Malawi with mentoring of non-physician clinicians based in a district hospital by paediatricians based at the central hospitals will establish and sustain clinical referral pathways in both directions. Ultimately, the plan envisages four managed paediatric clinical networks, each radiating from one of Malawi's four central hospitals and covering the entire country. This model of task sharing within four hub-and-spoke networks may facilitate wider dissemination of scarce expertise and improve child healthcare in Malawi close to the child's home.

TESTING THE HYPOTHESIS: Funding has been secured to train sufficient personnel to staff all central and district hospitals in Malawi with teams of paediatric specialists in the central hospitals and specialist non-physician clinicians in each government district hospital. The hypothesis will be tested using a natural experiment model. Data routinely collected by the Ministry of Health will be corroborated at the district. This will include case fatality rates for common childhood illness, perinatal mortality and process indicators. Data from different districts will be compared at baseline and annually until 2020 as the specialists of both cadres take up posts.

IMPLICATIONS OF THE HYPOTHESIS: If a managed clinical network improves child healthcare in Malawi, it may be a potential model for the other countries in sub-Saharan Africa with similar cadres in their healthcare system and face similar challenges in terms of scarcity of specialists.

The Reliability and Validity of a Child and Adolescent Participation in Decision Making Questionnaire

Background
There is a growing impetus across the research, policy and practice communities for children and young people to participate in decisions that affect their lives. Furthermore, there is a dearth of general instruments that measure children and young people’s views on their participation in decision making. This paper presents the reliability and validity of the Child and Adolescent Participation in Decision Making Questionnaire (CAP-DMQ) and specifically looks at a population of looked-after children where a lack of participation in decision making is an acute issue.
Methods
The participants were 151 looked after children and adolescents between 10-23 years of age who completed the 10 item CAP-DMQ. Of the participants 113 were in receipt of an advocacy service that had an aim of increasing participation in decision-making with the remaining participants not having received this service.
Results
The results showed that the CAP-DMQ had good reliability (Cronbach’s alpha = .94) and showed promising uni-dimensional construct validity through an exploratory factor analysis. The items in the CAP-DMQ also demonstrated good content validity by overlapping with prominent models of child and adolescent participation (Lundy 2007) and decision making (Halpern 2014). A regression analysis showed that age and gender were not significant predictors of CAP-DMQ scores but receipt of advocacy was a significant predictor of scores (effect size d=.88), thus showing appropriate discriminant criterion validity.
Conclusion
Overall, the CAP-DMQ showed good reliability and validity. Therefore, the measure has excellent promise for theoretical investigation in the area of child and adolescent participation in decision making and equally shows empirical promise for use as a measure in evaluating services which have increasing the participation of children and adolescents in decision making as an intended outcome.

Ethnicity and the prostate cancer experience: a qualitative metasynthesis

Objectives: To summarise black and minority ethnic (BME) patients' and partners
experiences of prostate cancer (PCa) by examining the findings of existing qualitative studies
Methods:
We undertook a systematic metasynthesis of qualitative studies using a modified version of
Noblit and Hare's 'meta-ethnography' approach, with a 2000-2015 search of seven databases.
Results: Thirteen studies of men from US and UK BME groups were included. We explored
constructs with BME-specific features. Healthcare provider relationships, formation of a
spiritual alliance with God (which enhanced the participants’ feeling of empowerment and
ability to cope with the cancer) and living on for others (generally to increase cancer
awareness), often connected to spiritual regrowth, were the three constructs most commonly
reported. A magnified effect from erectile dysfunction was also common. Initially this
affected men’s disclosure to others about their cancer and their sexual problems, but
eventually men responded by shifting their conceptualisations of masculinity to sustain self
and social identities. There was also evidence of inequality resulting from financial
constraints and adversity that necessitated resilience in coping.
Conclusions: The prostate cancer experience of BME men and their partners is affected by a
complex intersection of ethnicity with other factors. Healthcare services should acknowledge
this. If providers recognise the men’s felt masculinities, social identities and spiritual beliefs
and their shifting nature, services could be improved, with community as well as individual
benefits. More studies are needed in diverse ethnic groups

ImageLearn - Decoding Britain's Landscape

Abstract Ordnance Survey, our national mapping organisation, collects vast amounts of high-resolution aerial imagery covering the entirety of the country. Currently, photogrammetrists and surveyors use this to manually capture real-world objects and characteristics for a relatively small number of features. Arguably, the vast archive of imagery that we have obtained portraying the whole of Great Britain is highly underutilised and could be ‘mined’ for much more information. Over the last year the ImageLearn project has investigated the potential of "representation learning" to automatically extract relevant features from aerial imagery. Representation learning is a form of data-mining in which the feature-extractors are learned using machine-learning techniques, rather than being manually defined. At the beginning of the project we conjectured that representations learned could help with processes such as object detection and identification, change detection and social landscape regionalisation of Britain. This seminar will give an overview of the project and highlight some of our research results.

Giving the benefit of the doubt: the role of vulnerability in the perception of Dark Triad behaviours.

The 'Dark Triad' of socially aversive personality traits (Machiavellianism, Narcissism, and Psychopathy) is typically associated with grandiosity, callousness, and exploitation. Despite this, people with such traits can be very successful in life, especially in the occupational context. This study investigated the characteristics of individuals who enable and abet people high on Dark Triad traits (e.g. through tolerating unpleasant behaviours, not challenging unethical conduct, etc.). High Dark Triad individuals may be able to identify individuals who are susceptible to social manipulation and who are therefore less likely to challenge their behaviours. This study used a 20-item Vulnerability Scale to capture the characteristics of individuals who fall victim to people high on the Dark Triad traits. Cronbach's alpha for the Vulnerability Scale was .80. Pearson's correlation between total vulnerability scores and each of the Big Five personality traits revealed that predictors of vulnerability to social manipulation include low extraversion, low conscientiousness, high neuroticism, and high agreeableness. The vignette method was used to elicit perceptions of Dark Triad behaviours from those who are found to demonstrate signs of social vulnerability. Differences in response styles on Likert-type statements and open-ended questions were found between the high and low vulnerability groups.

Substance use disorder comorbidity with schizophrenia in families of Mexican and Central American Ancestry

artículo -- Universidad de Costa Rica. Centro Investigación en Biología Molecular y Celular, 2010. Este documento es privado debido a limitaciones de derechos de autor.