419 resultados para ASD
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We investigated attention, encoding and processing of social aspects of complex photographic scenes. Twenty-four high-functioning adolescents (aged 11–16) with ASD and 24 typically developing matched control participants viewed and then described a series of scenes, each containing a person. Analyses of eye movements and verbal descriptions provided converging evidence that both groups displayed general interest in the person in each scene but the salience of the person was reduced for the ASD participants. Nevertheless, the verbal descriptions revealed that participants with ASD frequently processed the observed person’s emotion or mental state without prompting. They also often mentioned eye-gaze direction, and there was evidence from eye movements and verbal descriptions that gaze was followed accurately. The combination of evidence from eye movements and verbal descriptions provides a rich insight into the way stimuli are processed overall. The merits of using these methods within the same paradigm are discussed.
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[Abraham Danzig]
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La Especificación Aeroespacial y de Defensa 2000M, también conocida como S2000M, es un protocolo de intercambio electrónico de datos utilizado en el apoyo logístico de equipos de defensa. La S2000M, resultado de un trabajo conjunto entre Fuerzas Armadas (FFAA) y empresas de Naciones diversas desarrollado durante las últimas cuatro décadas, define tanto los procesos para la adquisición y mantenimiento de componentes militares, como los mensajes normalizados en apoyo de dichos procesos. Equipos de trabajo constituidos por representantes de las citadas FFAA e industria mantienen actualizada la S2000M, por lo que el protocolo evoluciona continuamente con objeto de adaptarse a las necesidades que puedan surgir. Como consecuencia de dicha actualización, existen diversas versiones de la S2000M actualmente en servicio, y este trabajo se basa en la versión denominada 2.1, si bien, una parte importante de las conclusiones del estudio pueden aplicarse a otras versiones del protocolo. A través de los años, la S2000M se ha convertido en un elemento esencial del comercio electrónico de piezas de repuesto y de servicios de mantenimiento y reparación de modernos sistemas aeronáuticos Europeos tales como los aviones de combate Typhoon, Tornado y Rafale, el avion de transporte A400M y los helicópteros NH90 y Tiger, por lo que la S2000M constituye un elemento esencial en el apoyo logístico necesario para asegurar la disponibilidad operativa de dichos sistemas. Así mismo, la S2000M juega un papel fundamental en el comercio electrónico entre las principales empresas aeronáuticas europeas y las organizaciones logísticas de defensa de Naciones tales como Alemania, España, Francia, Holanda, Italia, etc. En consecuencia, la importancia de la S2000M en aspectos tales como logística, nivel de operatividad de los sistemas de armas mencionados, comercio electrónico y sistemas de información es manifiesta, por lo que resulta necesario evaluar la eficacia y eficiencia del protocolo para optimizarlo al máximo. Con este propósito, el presente trabajo estudia la S2000M con objeto de encontrar una respuesta a la pregunta que ha constituido la base de la investigación: ¿Cómo medir el éxito de la Especificación Aeroespacial y de Defensa S2000M? Como la S2000M se utiliza para intercambiar información logística en formato electrónico entre organizaciones y entidades por medio de documentos estructurados y de procesos automatizados, los sistemas de información juegan un papel fundamental en este trabajo. En consecuencia, la base teoríca para tratar de responder a la pregunta anteriormente citada se sustenta en las investigaciones en curso sobre el éxito de los sistemas de información, adaptadas a la problemática específica del protocolo S2000M. Para finalizar, es importante mencionar que debido a que la investigación sobre la S2000M es prácticamente inexistente, este trabajo se centra en un área específica de conocimiento hasta ahora casi inexplorada. El resultado de la investigación se materializa en una serie de propuestas teoricas y prácticas con las que se contribuyen al desarrollo de tres áreas de conocimiento: S2000M, Sistemas de Información e Intercambio Electrónico de Datos. Asimismo, se proponen nuevas áreas de estudio en las tres áreas mencionadas. ABSTRAC The Aerospace and Defence Specification 2000M, in short S2000M, is an Electronic Data Interchange (EDI) standard used in the logistic support of defence equipment. The S2000M is the result of the joint effort undertaken by the Armed Forces and industry of several Nations over the last four decades. The protocol defines the business processes for the supply, maintenance and repair of military components, as well as the standard messages on support of the said processes. Representatives from industry and military keep the S2000M up-to-date and therefore, the protocol evolves continuously to support new requirements that may arise. Consequently, there are different versions of the standard currently available and this study is about one of them, precisely, Revision 2.1; however, many of the research outcomes are also be valid for other versions of the protocol. Through the years, the S2000M has become an essential element for the electronic trade of spare parts and repair services on support of modern European aeronautical systems such as the fighters Typhoon, Tornado and Rafale, the airlifter A400M and the helicopters NH90 and Tiger. As a result, the S2000M is at the center of the logistic support required to ensure the operational availability of these systems. Further, the protocol plays a key role in the electronic exchanges among main European aeronautical players and defence logistics organizations from Nations such as France, Germany, Italy, Netherlands, Spain, etc. Therefore, the significance of the S2000M on the operational availability of the mentioned weapon systems, and in logistics, electronic business and Information Systems (IS) terms is noticeable, and it is then worth evaluating how the S2000M is doing with respect to its effectiveness and efficiency in order to improve these two areas as much as possible. To this end, this work analyzes the S2000M with the aim to find a response to the following research question: How to measure the success of the Aerospace and Defence Specification 2000M? As in the end the S2000M is about the electronic exchange of logistics information among organizations and firms by means of standard messages and processes automation, IS are at the core of this dissertation. For that reason, the theoretical foundation to tackle the research question rests on the ongoing stream of research on IS success, which will be extended to take into consideration the S2000M standpoint as well. Last, it is worth noting that due to the practically inexistent research on the S2000M M, this investigation help filling a gap in this domain. The outcomes from this study materialize in a number of conceptual and practical proposals that contribute to the theory and practice on three main knowledge areas, that is, S2000M, IS and EDI. Further, this work opens the door for further research in the said or related fields.
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Introduction: Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk 1, and are associated with specific phenotypic manifestations 2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described 3, 4. An increased prevalence of autism - like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP) 5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS) 6 and Broad Autism Phenotype Questionnaire (BAPQ) 7 reports . The SRS is 65 - item questionnaire to identify sub - clinical social impairments and interpersonal behaviour in individuals . The BAPQ is a 36 - item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.
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Photocopy.
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Mode of access: Internet.
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Alternative splicing is widespread in mammalian gene expression, and variant splice patterns are often specific to different stages of development, particular tissues or a disease state. There is a need to systematically collect data on alternatively spliced exons, introns and splice isoforms, and to annotate this data. The Alternative Splicing Database consortium has been addressing this need, and is committed to maintaining and developing a value-added database of alternative splice events, and of experimentally verified regulatory mechanisms that mediate splice variants. In this paper we present two of the products from this project: namely, a database of computationally delineated alternative splice events as seen in alignments of EST/cDNA sequences with genome sequences, and a database of alternatively spliced exons collected from literature. The reported splice events are from nine different organisms and are annotated for various biological features including expression states and cross-species conservation. The data are presented on our ASD web pages (http://www.ebi.ac.uk/asd).
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Although atypical social behaviour remains a key characterisation of ASD, the presence ofsensory and perceptual abnormalities has been given a more central role in recentclassification changes. An understanding of the origins of such aberrations could thus prove afruitful focus for ASD research. Early neurocognitive models of ASD suggested that thestudy of high frequency activity in the brain as a measure of cortical connectivity mightprovide the key to understanding the neural correlates of sensory and perceptual deviations inASD. As our review shows, the findings from subsequent research have been inconsistent,with a lack of agreement about the nature of any high frequency disturbances in ASD brains.Based on the application of new techniques using more sophisticated measures of brainsynchronisation, direction of information flow, and invoking the coupling between high andlow frequency bands, we propose a framework which could reconcile apparently conflictingfindings in this area and would be consistent both with emerging neurocognitive models ofautism and with the heterogeneity of the condition.
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Background: Autism spectrum disorder (ASD) is multifactorial and is likely the result of complex interactions between multiple environmental and genetic factors. Recently, it has been suggested that each symptom cluster of the disorder, such as poor social communication, may be mediated by different genetic influences. Genes in the oxytocin pathway, which mediates social behaviours in humans, have been studied with single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) being implicated in ASD. This thesis examines the presence of different oxytocin receptor genotypes, and their associations with ASD and resulting social communication deficits. Methods: The relationship between four OXTR variants and ASD was evaluated in 607 ASD simplex (SPX) families. Cases were compared to their unaffected siblings using a conditional logistic approach. Odds ratios and associated 95 percent confidence intervals were obtained. A second sample of 235 individuals with a diagnosis of ASD was examined to evaluate whether these four OXTR variants were associated with social communication scores on the Autism Diagnostic Interview – Revised (ADI-R). Parameter estimates and associated 95 percent confidence intervals were generated using a linear regression approach. Multiple testing issues were addressed using false discovery adjustments. Results: The rs53576 AG genotype was significantly associated with a lower risk of ASD (OR = 0.707, 95% CI: 0.512-0.975). A single genotype (AG) provided by the rs2254298 marker was found to be significantly associated with higher social communication scores (Parameter estimate = 1.833, SE = 0.762, p = 0.0171). This association was also seen in a Caucasian only and mothers as the respondent samples. No association was significant following false discovery rate adjustments. Conclusion: The findings from these studies provide limited support for the role of OXTR SNPs in ASD, especially in social communication skills. The clinical significance of these associations remains unknown, however, it is likely that these associations do not play a role in the severity of symptoms associated with ASD. Rather, they may be important in the appearance of social deficits due to the rs2254298 markers association with enlarged amygdalas.
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Background
Temper outbursts are prevalent in individuals with PWS and are often triggered by unexpected changes to routines or plans. However, such outbursts are also common in individuals with several other neurodevelopmental disorders, including those with a diagnosis of autism spectrum disorder (ASD). We compared the profile of temper outbursts in children with PWS to that in children with ASD. We examined whether differences in the temper outburst profile predicted differences in the outcomes of two caregiver led intervention strategies aiming to reduce change triggered outbursts.
Methods and results
Thirteen 7-15 year olds with PWS – taking part in a larger study involving 60 children evidencing temper outbursts following changes – were individually matched for age to children with ASD (mean ages: 10.70; 10.76 yrs). Caregivers participated in a structured/semi-structured interview on children's outbursts; completed a web-based outburst diary over a 6 month baseline; and are currently using either a change signalling intervention to reliably warn children of forthcoming changes; or a planning ahead intervention to reduce children's exposure to unexpected changes.
As reported at interview, on average, children with PWS showed more frequent temper outbursts than those with ASD (closer to daily vs. weekly). For seven children with PWS and six with ASD, 60% or more of their temper outbursts were reported to be triggered by changes. Whilst outbursts had similar durations when triggered by changes or by other events in children with PWS; change triggered outbursts in children with ASD were generally shorter. The most commonly reported outburst components in children with PWS included indicators of heightened emotional arousal but this was not the case for children with ASD. Data on behavioural change associated with each of the intervention strategies will be discussed.
Conclusions
Change triggered temper outbursts can be a problem for children PWS and ASD, however subtle differences appear to exist in the profile of these outbursts. Some of these differences may be relevant for the expected efficacy of different behavioural intervention strategies that target outbursts.
Summary
Temper outbursts (tantrums) were compared in children with PWS or autism spectrum disorder before and during use of one of two helping strategies. Helping strategies were led by caregivers and aimed to reduce outbursts that follow changes to routines or plans by making such changes more predictable, or by reducing the quantity of changes. Characteristics of outbursts may be important to help us predict which helping strategies may be most effective.
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“Children are a kind of indicator species.
If we can build a successful city for children,
we will have a successful city for all people.”
Enrique Peñalosa (former mayor of Bogotá)
Should society be judged by how they treat their weakest members, the concept of the Child Friendly City offers more than ample scope for critiquing the genuine health and inclusivity of our urban environments. If we accept childhood as a crucial human development phase that demands inclusive and welcoming places for play, exploration and growth, many cities today are becoming increasingly barren habitats, arguably full of nothing but empty childhoods. (Raven-Ellison 2015) With children today less able to roam and explore our streets than those of yesteryear, (Bird 2007) the situation is now developing where our young are becoming increasingly socially and spatially excluded from our supposedly shared Built Environment. That progressively restrictive urban realm is particularly pronounced for those with Autism Spectrum Disorder, for whom our cities can be disorientating, difficult and even frightening places.
As a profession we have a responsibility to provide inclusive built environments that do not preclude the presence of the most vulnerable in society, among them those with ASD. Accordingly this paper seeks to introduce emerging research into the current challenges facing these young urban stakeholders before discussing how planning processes and design interventions might make our cities more accessible to those with ASD.
References:
Bird, W. (2007) Natural Thinking, Sandy, Bedfordshire: RSPB.
Raven-Ellison, D. (2015) “London’s Empty Childhoods” in London Essays – Green Spaces, Issue 3 – found at: http://essays.centreforlondon.org/issues/green/londons-empty-childhoods/ accessed 9th May 2016.
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Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk1, and are associated with specific phenotypic manifestations2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described3,4. An increased prevalence of autism-like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP)5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS)6 and Broad Autism Phenotype Questionnaire (BAPQ)7 reports. The SRS is 65-item questionnaire to identify sub-clinical social impairments and interpersonal behaviour in individuals. The BAPQ is a 36-item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.