86 research outputs found

    Synaptic processes and immune-related pathways implicated in Tourette syndrome.

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    Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions. We employed a self-contained, set-based association method (SBA) as well as a competitive gene set method (MAGMA) using individual-level genotype data to perform a comprehensive investigation of the biological background of TS. Our SBA analysis identified three significant gene sets after Bonferroni correction, implicating ligand-gated ion channel signaling, lymphocytic, and cell adhesion and transsynaptic signaling processes. MAGMA analysis further supported the involvement of the cell adhesion and trans-synaptic signaling gene set. The lymphocytic gene set was driven by variants in FLT3, raising an intriguing hypothesis for the involvement of a neuroinflammatory element in TS pathogenesis. The indications of involvement of ligand-gated ion channel signaling reinforce the role of GABA in TS, while the association of cell adhesion and trans-synaptic signaling gene set provides additional support for the role of adhesion molecules in neuropsychiatric disorders. This study reinforces previous findings but also provides new insights into the neurobiology of TS

    A national educational campaign to raise awareness of child physical abuse among health care professionals

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    Education is necessary to improve child physical abuse detection and management. A few studies have described national child abuse training programs, but none has measured changes in knowledge among participants. A collaboration of child abuse experts from the USA, an academic pediatric department, and a non-governmental organization in child protection aimed at (a) training hospital physicians in a train-the-trainer course for the detection and management of child physical abuse and (b) conducting workshops and measuring attendance and gain of knowledge of participants. A train-the-trainer and a national curriculum were created. A 78-item and a 20-item knowledge questionnaire were used pre and post the train-the-trainer course and all workshops, respectively. Nineteen physicians from all pediatric departments of the seven medical schools in Greece attended the course. Eight workshops in seven cities took place with a total attendance of 1220 health care professionals. Gain of knowledge was demonstrated for participants in the train-the-trainer course (p = 0.0015) and local workshops (p < 0.001). Conclusion: We successfully engaged physicians from all medical schools in Greece and conducted a train-the-trainer module and eight workshops in major cities that improved the participants’ knowledge in child physical abuse. This approach may help address physician deficiencies in emerging areas of child abuse clinical practice.What is Known:• Education is necessary to improve child physical abuse detection and management.• Although national training programs have been described, none has measured participants’ changes in knowledge.What is New:• A collaboration of child abuse experts, all medical schools in Greece, and a non-governmental organization resulted in a national educational campaign in child physical abuse and gains in knowledge for participants.• This approach may help address deficiencies in emerging areas of clinical practice. © 2020, Springer-Verlag GmbH Germany, part of Springer Nature

    Social Psychology and the Stimulation of Recycling Behaviors: The Block Leader Approach

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    Recycling has been touted as an important part of the solution to solid waste problems, yet most citizens still do not recycle, even when recycling is made easy by curbside pickups. This field experiment was designed to increase participation in a city-sponsored curbside recycling program. Citizens who consistently recycled with the city program were approached and asked to be recycling block leaders. Those who agreed were instructed to give approximately 10 nonrecycling neighbors a persuasive communication advocating recycling and special recycling bags. A second treatment group (of nonrecycling households) had bags and the communication left at their door. Results indicated that the curbside recycling of the two experimental groups differed significantly from one another (with the block leader group recycling more), and both differed significantly from a control group receiving no treatment. A discussion of past recycling intervention research and its feasibility for community application is included

    A Meta-Analytic Review of the Common-Sense Model of Illness Representations

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    A meta-analysis of empirical studies (N = 45) adopting Leventhal, Meyer and Nerenz's (1980) Common Sense Model (CSM) of illness representations is presented. The average corrected intercorrelation matrix for the sample of studies showed that the CSM illness cognition dimensions of consequences, control/cure, identity and timeline followed a logical pattern supporting their construct and discriminant validity across illness types. A content analysis classified coping strategies into seven distinctive categories and health outcomes into six categories. Examining the average corrected correlation coefficients across the studies revealed that perceptions of a strong illness identity were significantly and positively related to the use of coping strategies of avoidance and emotion expression. In addition, perceived controllability of the illness was significantly associated with cognitive reappraisal, expressing emotions and problem-focused coping strategies. Perceptions of the illness as highly symptomatic, having a chronic timeline and serious consequences was significantly correlated with avoidance and expressing emotions coping strategies. Further, perceptions that the illness was curable/controllable was significantly and positively related to the adaptive outcomes of psychological well-being, social functioning and vitality and negatively related to psychological distress and disease state. Conversely, illness consequences, timeline and identity exhibited significant, negative relationships with psychological well being, role and social functioning and vitality. The analyses provide evidence for theoretically predictable relations between illness cognitions, coping and outcomes across studies

    Investigation of gene-environment interactions in relation to tic severity.

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    Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies
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