42 research outputs found

    A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures

    Get PDF
    At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.p12) in the ATP2C2 gene. ATP2C2 was implicated in language disorders by linkage and association studies, and exactly the same variant was reported previously in a different exome sequencing study for language impairment (LI). We followed up this finding by genotyping the mutation in cohorts selected for LI and comorbid disorders. We found that the variant had a higher frequency in LI cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). Additionally, we observed that carriers of the rare variant identified from a general population cohort (N = 42, ALSPAC cohort) presented, as a group, lower scores on a range of reading and language-related measures compared to controls (N = 1825; minimum P = 0.002 for non-word reading). ATP2C2 encodes for an ATPase (SPCA2) that transports calcium and manganese ions into the Golgi lumen. Our functional characterization suggested that the rare variant influences the ATPase activity of SPCA2. Thus, our results further support the role of ATP2C2 locus in language-related phenotypes and pinpoint the possible effects of a specific rare variant at molecular level

    The importance of the altricial – precocial spectrum for social complexity in mammals and birds:A review

    Get PDF
    Various types of long-term stable relationships that individuals uphold, including cooperation and competition between group members, define social complexity in vertebrates. Numerous life history, physiological and cognitive traits have been shown to affect, or to be affected by, such social relationships. As such, differences in developmental modes, i.e. the ‘altricial-precocial’ spectrum, may play an important role in understanding the interspecific variation in occurrence of social interactions, but to what extent this is the case is unclear because the role of the developmental mode has not been studied directly in across-species studies of sociality. In other words, although there are studies on the effects of developmental mode on brain size, on the effects of brain size on cognition, and on the effects of cognition on social complexity, there are no studies directly investigating the link between developmental mode and social complexity. This is surprising because developmental differences play a significant role in the evolution of, for example, brain size, which is in turn considered an essential building block with respect to social complexity. Here, we compiled an overview of studies on various aspects of the complexity of social systems in altricial and precocial mammals and birds. Although systematic studies are scarce and do not allow for a quantitative comparison, we show that several forms of social relationships and cognitive abilities occur in species along the entire developmental spectrum. Based on the existing evidence it seems that differences in developmental modes play a minor role in whether or not individuals or species are able to meet the cognitive capabilities and requirements for maintaining complex social relationships. Given the scarcity of comparative studies and potential subtle differences, however, we suggest that future studies should consider developmental differences to determine whether our finding is general or whether some of the vast variation in social complexity across species can be explained by developmental mode. This would allow a more detailed assessment of the relative importance of developmental mode in the evolution of vertebrate social systems

    Reforming State Pension Provision in ‘Liberal’ Anglo-Saxon Countries: Re-Commodification, Cost-Containment or Recalibration?

    Get PDF
    There are good theoretical reasons for expecting pension reform in Anglo-Saxon countries to follow similar paths. Esping-Andersen (1990) famously identified these countries as belonging to the same ‘Liberal’ model of welfare, under which benefits, including pensions, are said to be residual and weakly ‘de-commodifying’, reducing individuals’ reliance on the market to a much lesser degree than elsewhere. Pierson (2001) has furthermore argued that because of path dependency welfare states are likely to follow established paths when dealing with ‘permanent austerity’. Following this logic, Aysan and Beaujot (2009) argue that pension reform in liberal countries has resulted in increasing re-commodification. In this paper, we review pension reforms in the UK, USA, Canada and New Zealand in the 2000s. We argue that because, in reality, the pension systems differed significantly at the point of reform, the paths followed varied considerably in terms of whether they focused on ‘re-commodification’, ‘cost-containment’ or ‘recalibration’

    Economic Rationalism versus the Community: Reflections on Social Democracy and State Capacity

    No full text
    In the context of calls for a 'third way' which proposes the abandonment of many of the social democratic and statist commitments of the postwar era, this paper reviews both the responsibilities accepted by peak bodies such as ACOSS and those that ought to be retained by government. It is sceptical of claims that social policy debates in Australia lead to the conclusion that welfare state development here has been satisfactory. Social democratic objectives (derived from intellectual contributions in the 1940s and 1950s as well as from the comparative political economy of the 1980s and 1990s) emphasize more decommodified provision of services than can be readily admitted in Australia. If the demand for social welfare and social policy continues to increase to the extent suggested by past and present circumstances, serious implications emerge for both public and private providers

    Book Reviews

    No full text
    Legislative, executive and judicial powers in Australia (5th ed) by W. Anstey Wynes, reviewed by Alex C. Castles. Discretionary trusts by I. J. Hardingham and R. Baxt, reviewed by J. F. Keeler. Cases and materials on evidence by J. D. Heydon, reviewed by Andrew Ligertwood. Principles of evidence by F. Bates, reviewed by Andrew Ligertwood. Declaratory orders by P. W. Young, reviewed by Alex C. Castles. Conflicts of law in Australia by P. E. Nygh, reviewed by D. St.L. Kelly. Poverty and the residential landlord-tenant relationship by Adrian J. Bradbrook, reviewed by J. J. O'Hallora

    A Brief Treatment Engagement Intervention for Individuals with Co-occurring Mental Illness and Substance Use Disorders: Results of a Randomized Clinical Trial

    No full text
    Study objectives were to evaluate a brief intervention designed to facilitate outpatient engagement following an inpatient psychiatric stay for individuals with mental illness and substance use. A total of 102 veterans were randomly assigned to one of two conditions: (1) Time Limited Care-Coordination (TLC), an eight-week co-occurring disorders intervention or (2) a matched attention (MA) control condition in the form of health education sessions. Both groups also received treatment as usual in inpatient and outpatient settings. Sixty-nine percent of TLC participants attended an outpatient appointment within 14 days of discharge, compared to only 33% of MA participants (P \u3c 0.01). TLC participants were also more likely to be engaged in outpatient services at the end of the intervention period (44 vs. 22%, P \u3c 0.01). This study provided evidence that an eight-week intervention could improve treatment engagement. Research is currently underway to examine impact of TLC intervention beyond the 8 week study period
    corecore