54 research outputs found

    Caring for a child with a learning disability born into the family unit: Women's recollections over time

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    This is the authors' print-print version of an article published in Scandianavian journal of disability research which is available online at: http://www.tandfonline.com/doi/abs/10.1080/15017419.2010.540827Caring over time for a child/young adult with a learning disability requires that the family, and in particular the mother, negotiate their needs with services and professionals, and these negotiations are complicated further by significant behavioural issues in the children. This study reports on a series of interviews undertaken with mothers of children and young adults with learning disabilities and a history of challenging behaviours. The interviews were supplemented by documentary data from clinical and other notes in order to provide a more detailed view of the issues arising from caring over time. Detailed thematic analysis revealed five key themes demonstrating the cumulative effect of caring for someone with such complex needs, the centrality of that individual’s needs to the lives of those interviewed and the ongoing negotiation between family and professionals required in order for the former to work out how to continue caring both effectively and on their own terms. All the names of mothers and children are psuedonyms

    Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction

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    Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853(∗)]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage

    Effects of eight neuropsychiatric copy number variants on human brain structure

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    peer reviewedMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions. © 2021, The Author(s)

    ATLAS detector and physics performance: Technical Design Report, 1

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    The symbolic/value-expressive function of outgroup attitudes among homosexuals

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    The claim that attitudes toward an outgroup symbolically represent beliefs that the outgroup violates important values was examined through the investigation of the intergroup versus intragroup nature of the relations between a sample of feminist lesbians (primarily involved in the women's movement), gay movement lesbians (primarily involved in the gay movement), and gay men. Consistent with the intergroup relatio

    Value conflict, value justification, and attitudes toward nuclear weapons

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    A survey examined the relation between 264 Canadian students' value priorities (Rokeach, 1967) and their attitudes toward nuclear weapons and reasoning about the issue of allowing nuclear weapons in Canada. Regression analyses revealed that their attitudes became more favorable toward nuclear weapons as they placed more importance on the value of national security and less importance on peace. Over and above these attitudinal differences, however, they differed in the extent to which they regarded national security and peace as relevant to the issue of nuclear weapons. Hence, these findings were consistent with Kristiansen and Zanna's (1988) value justification hypothesis, which claims that people with different attitudes will attempt to justify them by appeals to different values. In addition, the degree to which subjects displayed integratively complex reasoning about nuclear weapons was a function of their attitudes: Those who opposed or favored nuclear weapons displayed less complex reasoning than those with more neutral attitudes. Finally, the integrative complexity of subjects' reasoning was not a function of the extent to which they deemed national security and peace as highly and equally important values. Possible explanations for this failure to replicate Tetlock's (1986) value pluralism model of ideological reasoning are considered

    PERCEPTIONS OF WIFE ABUSE: Effects of Gender, Attitudes toward Women, and Just‐World Beliefs among College Students

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    The effects of 157 university students’gender, attitudes toward women (Spence, Helmreich, & Stapp, 1973), and just‐world beliefs (Lerner, 1980) on their perceptions and attributions regarding the perpetrator and victim of an instance of wife abuse were examined. Hierarchical regression analyses revealed two patterns of results, each differentially associated with participants’gender. Consistent with Heider's (1958) balance theory, males blamed and derogated the wife/victim more as their attitudes toward women became less favorable. Among females, in contrast, those with positive attitudes toward women blamed, but did not derogate, the wife/victim more as their just‐world beliefs became stronger. The latter finding is interpreted in view of research which suggests that women may blame a victim of violence toward women in an effort to gain perceived control over the possibility of their own potential victimization. The implications of these findings for understanding and changing people's perceptions of the victims of wife abuse are discussed. Copyrigh

    Women's Reactions to Miscarriage: The Role of Attributions, Coping Styles, and Knowledge

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    This study examined 72 women's retrospectively reported reactions to miscarriage, including depression, stress, and a

    Justifying attitudes by appealing to values: A functional perspective

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    This study examined the ‘value‐justification hypothesis’. Derived from accentuation theory (Eiser, 1987), this hypothesis states that people with different attitudes will appeal to different values to justify, or account for, their attitudes. Subjects completed measures of their attitudes towards abortion and nuclear weapons, ranked the importance of 18 values (Rokeach, 1967) and ranked the relevance of these values to each attitude issue. Multivariate analyses revealed that subjects with negative and positive attitudes differed in the values which they regarded as relevant to each issue. For example, subjects who favoured nuclear weapons regarded ‘national security’ as more relevant in comparison to subjects opposed to nuclear weapons who viewed ‘wisdom’ as a more relevant value consideration. Further, these effects occurred over and above differences in value importance. Finally, the results suggested that these value‐justification effects were stronger among low, relative to high, self‐monitors (Snyder, 1974). The latter finding is consistent with the notion that value‐justification effects are more likely to occur when attitudes fulfil a value‐expressive function. The relation of these findings to the functional approach to the study of attitudes and Tetlock's (1986) value pluralism model is also discussed. 1988 The British Psychological Societ
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