285 research outputs found

    The effects of peer influence on adolescent pedestrian road-crossing decisions

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    Objective: Adolescence is a high-risk period for pedestrian injury. It is also a time of heightened susceptibility to peer influence. The aim of this research was to examine the effects of peer influence on the pedestrian road-crossing decisions of adolescents. Methods: Using 10 videos of road-crossing sites, 80 16- to 18-year-olds were asked to make pedestrian road-crossing decisions. Participants were assigned to one of 4 experimental conditions: negative peer (influencing unsafe decisions), positive peer (influencing cautious decisions), silent peer (who observed but did not comment), and no peer (the participant completed the task alone). Peers from the adolescent’s own friendship group were recruited to influence either an unsafe or a cautious decision. Results: Statistically significant differences were found between peer conditions. Participants least often identified safe road-crossing sites when accompanied by a negative peer and more frequently identified dangerous road-crossing sites when accompanied by a positive peer. Both cautious and unsafe comments from a peer influenced adolescent pedestrians’ decisions. Conclusions: These findings showed that road-crossing decisions of adolescents were influenced by both unsafe and cautious comments from their peers. The discussion highlighted the role that peers can play in both increasing and reducing adolescent risk-taking

    Living with interpersonal data: observability and accountability in the age of pervasive ICT

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    The Internet of Things, alongside existing mobile digital technologies, heralds a world in which pervasive sensing constantly captures data about us. Simultaneous with this technology programme are moves by policymakers to shore up the digital economy through the legislating of new trust-building models of data management. These moves seek to give individuals control and oversight of their personal data. Within shared settings, the consequences of these changes are the large-scale generation of interpersonal data generated by and acting on the group rather than individual. We consider how such systems create new forms of observability and hence accountability among members of the home, and draw on the work of Simmel and Goffman to explore how these demands are managed. Such management mitigates the more extreme possibilities for domestic monitoring posited by these systems, yet without careful design there remains a considerable danger of unanticipated negative consequences

    Molecular genetic analysis of the 3p — syndrome

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    Molecular genetic analysis of five cases of 3p-syndrome (del(3)(qter-p25:)) was performed to investigate the relationship between the molecular pathology and clinical phenotype. Fluorescence in situ hybridization studies and analysis of polymorphic DNA markers from chromosome 3p25-p26 demonstrated that all four informative cases had distal deletions. However, the extent of the deletion was variable: in two patients with the most extensive deletions the deletion breakpoint mapped between RAF1 and D3S1250, in one patient the deletion breakpoint was between D3S1250 and D3S601, and in two patients the deletion commenced telomeric to D3S601 (and telomeric to D3S1317 in one of these). All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype. The three patients with the most extensive deletions had cardiac septal defects suggesting that a gene involved in normal cardiac development is contained in the interval D3S1250 and D3S18. The PMCA2 gene is contained within this region and deletion of this gene may cause congenital heart defects. At least three patients were deleted for the von Hippel - Lindau (VHL) disease gene although none had yet developed evidence of VHL disease. We conclude that molecular analysis of 3p- syndrome patients enhances the management of affected patients by identifying those at risk for VHL disease, and can be used to elucidate the critical regions for the 3p- syndrome phenotyp

    Perceptual subitizing and conceptual subitizing in Williams syndrome and Down syndrome: Insights from eye movements

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    BACKGROUND AND AIMS: Mathematical difficulties in individuals with Williams Syndrome (WS) and in individuals with Down Syndrome (DS) are well-established. Perceptual subitizing and conceptual subitizing are domain-specific precursors of mathematical achievement in typically developing (TD) population. This study employed, for the first time, eye-tracking methodology to investigate subitizing abilities in WS and DS. METHODS AND PROCEDURES: Twenty-five participants with WS and 24 participants with DS were compared to a younger group of TD children (n = 25) matched for mental age. Participants were asked to enumerate one to six dots arranged either in a dice or a random pattern. OUTCOMES AND RESULTS: Accuracy rates and analyses of reaction time showed no significant differences between the clinical groups (WS and DS) and the control group, suggesting that all participants used the same processes to perform the enumeration task in the different experimental conditions. Analyses of the eye movements showed that both individuals with WS and individuals with DS were using inefficient scanning strategies when counting. Moreover, analyses of the eye movements showed significantly shorter fixation duration in participants with DS compared to the control group in all the experimental conditions. CONCLUSIONS AND IMPLICATIONS: The current study provides evidence that individuals with WS and individuals with DS perform both perceptual subitizing and conceptual subitizing. Moreover, our results suggest a fixation instability in DS group that does not affect their performance when subitizing but might explain their low accuracy rates when counting. Findings are discussed in relation to previous studies and the impact for intervention programmes to improve counting and symbolic mathematical abilities in these populations

    The home learning environment of primary school children with down syndrome and those with williams syndrome

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    Background and aims: Research on typically developing (TD) populations has shown that the home learning environment plays a significant role in cognitive development and learning, but very little is known about the home learning environment of children with Down syndrome (DS) or children with Williams syndrome (WS). The present study examined and compared, for the first time, the home learning environment of children diagnosed with DS and children diagnosed with WS to investigate whether different cognitive profiles were reflected in their home literacy and number experiences. Methods and procedures: Quantitative and qualitative data were collected through a web-based survey from 58 parents and one foster parent of primary school children with DS (n = 35) and WS (n = 24) mostly based in the UK. The survey targeted the children’s general level of functioning and academic skills; type, format, and frequency of home learning activities; parents’ expectations for their child’s academic outcomes; parents’ attitudes towards literacy and mathematics; children’s interest towards mathematics; and the use of technology to support home learning activities. Outcomes and results: Our results showed that, overall, the home learning environment of children with DS and children with WS were similar but changed based on the child’s cognitive profile. Comparative analyses showed that parents of children with DS engaged more often in activities supporting counting than parents of children with WS, despite both groups reporting difficulties with this skill. Moreover, our results indicated that literacy-based activities occurred more often than mathematics-based activities and that the home numeracy environment was characterized by activities supporting different mathematical skills such as counting, arithmetic, and numeracy. Parents in both groups engaged with their child in both formal and informal literacy and mathematics-based activities, but informal activities occurred more often when supporting counting and number recognition skills. Conclusions and implications: The current study provides evidence that the home learning environment of children with DS and children with WS include different literacy-and mathematics-based activities and that the home learning environment changes on the basis of the child’s strengths and weaknesses. The findings are discussed in relation to previous studies and the impact on parental interventions

    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

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    BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. METHODS AND RESULTS: Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregating as an autosomal dominant trait. Screening a cohort of 52 unrelated AOS subjects, we detected 8 additional unique NOTCH1 mutations, including 3 de novo amino acid substitutions, all within the ligand-binding domain. Congenital heart anomalies were noted in 47% (8/17) of NOTCH1-positive probands and affected family members. In leukocyte-derived RNA from subjects harboring NOTCH1 extracellular domain mutations, we observed significant reduction of NOTCH1 expression, suggesting instability and degradation of mutant mRNA transcripts by the cellular machinery. Transient transfection of mutagenized NOTCH1 missense constructs also revealed significant reduction in gene expression. Mutant NOTCH1 expression was associated with downregulation of the Notch target genes HEY1 and HES1, indicating that NOTCH1-related AOS arises through dysregulation of the Notch signaling pathway. CONCLUSIONS: These findings highlight a key role for NOTCH1 across a range of developmental anomalies that include cardiac defects and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for this group of disorders

    Implementing a centralised pharmacovigilance service in a non-commercial setting in the United Kingdom

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    The implementation of a pharmacovigilance service compliant with the legal and regulatory responsibilities of clinical trial sponsors presents particular challenges for sponsors in a non-commercial setting. In this paper we examine these challenges in detail. We identify and discuss the key steps in the development of a pharmacovigilance service within a public health service and university setting in the United Kingdom. We describe how we have established a central Pharmacovigilance Office with dedicated staff and resources within our organisation. This office is supported by an electronic pharmacovigilance reporting infrastructure developed to facilitate the receipt and processing of safety information, the onward reporting in compliance with legislation and the provision of sponsor institution oversight of clinical trial participant safety. An education and training programme has also been set up to ensure that all relevant staff in the organisation are fully aware of the pharmacovigilance service and are appropriately trained in its use. We discuss possible alternatives to this approach and why we consider our solution to be the most appropriate to ensure that a non-commercial sponsor organisation and investigators are operating in a fully compliant way

    Clinical trials: minimising source data queries to streamline endpoint adjudication in a large multi-national trial

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    Background: The UK Clinical Trial Regulations and Good Clinical Practice guidelines specify that the study sponsor must ensure clinical trial data are accurately reported, recorded and verified to ensure patient safety and scientific integrity. The methods that are utilised to assess data quality and the results of any reviews undertaken are rarely reported in the literature. We have recently undertaken a quality review of trial data submitted to a Clinical Endpoint Committee for adjudication. The purpose of the review was to identify areas that could be improved for future clinical trials. The results are reported in this paper. Methods: Throughout the course of the study, all data queries were logged. Following study close out, queries were coded and categorised. A descriptive and comparative analysis was conducted to determine the frequency of occurrence for each category by country of origin. Results: From 1595 endpoint packages reviewed, 782 queries were generated. No source data queries were generated for countries with ≤ 25 recruited subjects, but both low recruiting and high recruiting countries had a high number of queries relating to subject identifiers. Conclusions: The implementation of some simple measures could help improve data quality and lead to significant savings.</p
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