806 resultados para Autism spectrum disorder (ASD)


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Xenomelia, the "foreign limb syndrome," is characterized by the non-acceptance of one or more of one's own extremities and the resulting desire for elective limb amputation or paralysis. Formerly labeled "body integrity identity disorder" (BIID), the condition was originally considered a psychological or psychiatric disorder, but a brain-centered Zeitgeist and a rapidly growing interest in the neural underpinnings of bodily self-consciousness has shifted the focus toward dysfunctional central nervous system circuits. The present article outlays both mind-based and brain-based views highlighting their shortcomings. We propose that full insight into what should be conceived a "xenomelia spectrum disorder" will require interpretation of individual symptomatology in a social context. A proper social neuroscience of xenomelia respects the functional neuroanatomy of corporeal awareness, but also acknowledges the brain's plasticity in response to an individual's history, which is lived against a cultural background. This integrated view of xenomelia will promote the subfield of consciousness research concerned with the unity of body and self.

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Motion-induced blindness (MIB) occurs when target stimuli are presented together with a moving distractor pattern. Most observers experience the targets disappearing and reappearing repeatedly for periods of up to several seconds. MIB can be viewed as a striking marker for the organization of cognitive functioning. In the present study, MIB rates and durations were assessed in 34 schizophrenia-spectrum disorder patients and matched controls. The results showed that positive symptoms and excitement enhanced MIB, whereas depression and negative symptoms attenuated the illusion. MIB was more frequently found in normal subjects. The results remained consistent after adjusting for reaction time and error rates. Hence, MIB may provide a valid and reliable measure of cognitive organization in schizophrenia.

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Disorganized behavior is a key symptom of schizophrenia. The objective assessment of disorganized behavior is particularly challenging. Actigraphy has enabled the objective assessment of motor behavior in various settings. Reduced motor activity was associated with negative syndrome scores, but simple motor activity analyses were not informative on other symptom dimensions. The analysis of movement patterns, however, could be more informative for assessing schizophrenia symptom dimensions. Here, we use time series analyses on actigraphic data of 100 schizophrenia spectrum disorder patients. Actigraphy recording intervals were set at 2 s. Data from 2 defined 60-min periods were analyzed, and partial autocorrelations of the actigraphy time series indicated predictability of movements in each individual. Increased positive syndrome scores were associated with reduced predictability of movements but not with the overall amount of movement. Negative syndrome scores were associated with low activity levels but unrelated with predictability of movement. The factors disorganization and excitement were related to movement predictability but emotional distress was not. Thus, the predictability of objectively assessed motor behavior may be a marker of positive symptoms and disorganized behavior. This behavior could become relevant for translational research.

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Australian research in psychiatric genetics covers molecular genetic studies of depression, anxiety, alcohol dependence, Alzheimer's disease, bipolar disorder, schizophrenia, autism, and attention deficit hyperactivity disorder. For each disorder, a variety of clinical cohorts have been recruited including affected sib pair families, trios, case/controls, and twins from a large population-based twin registry. These studies are taking place both independently and in collaboration with international groups. Microarray studies now complement DNA investigations, while animal models are in development An Australian government genome facility provides a high throughput genotyping and mutation detection service to the Australian scientific community, enhancing the contribution of Australian psychiatric genetics groups to gene discovery. (C) 2003 Lippincott Williams Wilkins.

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BACKGROUND. A strategic and prioritized approach to occupational therapy research is needed, particularly given the limited research funding available. Comparing occupational therapists' information needs with the research evidence available can potentially inform research debate within the profession. This study aimed to identify research topics most often sought by users of the OTseeker database and to compare these with the quantity of topics available in the database. METHOD. A random sample of keyword search terms submitted to OTseeker (n = 4,500) was coded according to diagnostic and intervention categories, and compared with the amount of research contained in OTseeker in 2004. RESULTS. Most frequently sought topics were relevant to the diagnostic categories of pediatric conditions (19%), neurology and neuromuscular disorders (17%), and mental health (17%). Most frequently sought intervention topics included modes of service delivery, sensory interventions, and physical modalities. Although many frequently sought topics had a correspondingly high volume of research in OTseeker, a few areas had very little content (e.g., fine motor skill acquisition, autistic spectrum disorder). This information is offered to inform discussions about research priorities and resource allocation for research within occupational therapy.

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Understanding how genes affect behavior is critical to develop precise therapies for human behavioral disorders. The ability to investigate the relationship between genes and behavior has been greatly advanced over the last few decades due to progress in gene-targeting technology. Recently, the Tet gene family was discovered and implicated in epigenetic modification of DNA methylation by converting 5-methylcytosine to 5-hydroxymethylcytosine (5hmC). 5hmC and its catalysts, the TET proteins, are highly abundant in the postnatal brain but with unclear functions. To investigate their neural functions, we generated new lines of Tet1 and Tet3 mutant mice using a gene targeting approach. We designed both mutations to cause a frameshift by deleting the largest coding exon of Tet1 (Tet1Δe4) and the catalytic domain of Tet3 (Tet3Δe7-9). As Tet1 is also highly expressed in embryonic stem cells (ESCs), we generated Tet1 homozygous deleted ESCs through sequential targeting to compare the function of Tet1 in the brain to its role in ESCs. To test our hypothesis that TET proteins epigenetically regulate transcription of key neural genes important for normal brain function, we examined transcriptional and epigenetic differences in the Tet1Δe4 mouse brain. The oxytocin receptor (OXTR), a neural gene implicated in social behaviors, is suggested to be epigenetically regulated by an unknown mechanism. Interestingly, several human studies have found associations between OXTR DNA hypermethylation and a wide spectrum of behavioral traits and neuropsychiatric disorders including autism spectrum disorders. Here we report the first evidence for an epigenetic mechanism of Oxtr transcription as expression of Oxtr is reduced in the brains of Tet1Δe4-/- mice. Likewise, the CpG island overlapping the promoter of Oxtr is hypermethylated during early embryonic development and persists into adulthood. We also discovered altered histone modifications at the hypermethylated regions, indicating the loss of TET1 has broad effects on the chromatin structure at Oxtr. Unexpectedly, we discovered an array of novel mRNA isoforms of Oxtr that are selectively reduced in Tet1Δe4-/- mice. Additionally, Tet1Δe4-/- mice display increased agonistic behaviors and impaired maternal care and short-term memory. Our findings support a novel role for TET1 in regulating Oxtr expression by preventing DNA hypermethylation and implicate TET1 in social behaviors, offering novel insight into Oxtr epigenetic regulation and its role in neuropsychiatric disorders.

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La inclusión de las personas con necesidades específicas de apoyo educativo, relacionadas con los trastornos del espectro autista (TEA), en los centros educativos, se define bajo los principios de integración curricular, realizada sobre el mismo espacio regular. En la universidad existe actualmente un importante desarrollo normativo en base a la orientación psicopedagógica que trata de responder a la equidad de la educación de las personas con discapacidad, que acceden a realizar sus estudios de grado. Desde esta perspectiva, es necesario establecer los criterios básicos y las orientaciones educativas sobre los cuales ha de apoyarse el diseño de programas en el ámbito universitario. Esta investigación trata precisamente de responder a esta cuestión, con el objetivo principal de exponer las variables predictivas más significativas que faciliten las bases de dichos programas, así como establecer las pautas de intervención psicopedagógica correspondientes. En efecto, los resultados, hallados mediante un análisis de regresión lineal por pasos facilita la deducción de conclusiones acerca de la elaboración de un programa general de intervención, que luego tendría necesariamente que adaptarse a las necesidades particulares de cada situación.

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Studies on hacking have typically focused on motivational aspects and general personality traits of the individuals who engage in hacking; little systematic research has been conducted on predispositions that may be associated not only with the choice to pursue a hacking career but also with performance in either naïve or expert populations. Here, we test the hypotheses that two traits that are typically enhanced in autism spectrum disorders—attention to detail and systemizing—may be positively related to both the choice of pursuing a career in information security and skilled performance in a prototypical hacking task (i.e., crypto-analysis or code-breaking). A group of naïve participants and of ethical hackers completed the Autism Spectrum Quotient, including an attention to detail scale, and the Systemizing Quotient (Baron-Cohen et al., 2001, 2003). They were also tested with behavioral tasks involving code-breaking and a control task involving security X-ray image interpretation. Hackers reported significantly higher systemizing and attention to detail than non-hackers. We found a positive relation between self-reported systemizing (but not attention to detail) and code-breaking skills in both hackers and non-hackers, whereas attention to detail (but not systemizing) was related with performance in the X-ray screening task in both groups, as previously reported with naïve participants (Rusconi et al., 2015). We discuss the theoretical and translational implications of our findings.

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Studies on hacking have typically focused on motivational aspects and general personality traits of the individuals who engage in hacking; little systematic research has been conducted on predispositions that may be associated not only with the choice to pursue a hacking career but also with performance in either naïve or expert populations. Here, we test the hypotheses that two traits that are typically enhanced in autism spectrum disorders—attention to detail and systemizing—may be positively related to both the choice of pursuing a career in information security and skilled performance in a prototypical hacking task (i.e., crypto-analysis or code-breaking). A group of naïve participants and of ethical hackers completed the Autism Spectrum Quotient, including an attention to detail scale, and the Systemizing Quotient (Baron-Cohen et al., 2001, 2003). They were also tested with behavioral tasks involving code-breaking and a control task involving security X-ray image interpretation. Hackers reported significantly higher systemizing and attention to detail than non-hackers. We found a positive relation between self-reported systemizing (but not attention to detail) and code-breaking skills in both hackers and non-hackers, whereas attention to detail (but not systemizing) was related with performance in the X-ray screening task in both groups, as previously reported with naïve participants (Rusconi et al., 2015). We discuss the theoretical and translational implications of our findings.

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Dissertação de Mestrado em Ciências da Educação - Especialização em Educação Especial. Apresentada à Escola Superior de Educação de Paula Frassinetti.

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O presente relatório procura refletir o trabalho desenvolvido no âmbito do estágio profissionalizante, inserido no Ramo de Aprofundamento de Competências Profissionais do Mestrado em Reabilitação Psicomotora, da Faculdade de Motricidade Humana. Este estágio decorreu na Associação Crescer com Sentido, em Lisboa, onde se procurou aprofundar as competências ao nível da observação, avaliação e intervenção psicomotora. Nesta instituição foi feita observação de sessões de psicomotricidade de crianças com Perturbações do Desenvolvimento e Dificuldades de Aprendizagem. A estagiária teve ainda oportunidade de realizar as suas atividades de estágio noutras instituições, com as quais a Associação Crescer com Sentido estabeleceu parceria. Uma das instituições foi a Creche e Jardim-de-Infância “O Botãozinho”, sediada em Carcavelos, onde foram feitos rastreios das competências pré-académicas a todas as crianças do último ano da educação pré-escolar. Após a análise dos rastreios foi selecionado um grupo de crianças, com resultados mais baixos, que foi alvo de sessões de estimulação das competências de literacia emergente, de forma a prevenir eventuais dificuldades de aprendizagem. Noutra instituição, o Externato “A Ritinha”, foram realizadas sessões semanais, em grupo, de psicomotricidade, de forma a estimular o desenvolvimento das crianças em idade pré-escolar. Por fim, a estagiária teve, ainda, oportunidade de avaliar e acompanhar uma criança, de nove anos, com Perturbação do Espectro do Autismo. As intervenções realizadas consideram-se benéficas e contributivas para um melhor desenvolvimento e percurso académico destas crianças.

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Dissertação para obtenção do grau de Mestre em Design de Comunicação, apresentada na Universidade de Lisboa - Faculdade de Arquitetura.

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A Intervenção psicomotora atua como promotora do desenvolvimento global do indivíduo, a partir do movimento e do lúdico. Nas Perturbações do Espetro do autismo existe algum comprometimento a nível motor e comportamental, caracterizado pelos interesses repetitivos e estereotipados da comunicação e consequentemente das relações interpessoais, aspetos que podem ser promovidos através de intervenção psicomotora. Neste âmbito é fulcral a criação de uma relação empática com o indivíduo, a qual atua como facilitadora no processo de intervenção. Assim, o presente relatório de estágio descreve o trabalho desenvolvido durante o ano letivo de 2014/2015 com crianças e jovens, com diagnóstico de Perturbações do Espetro do Autismo e outras comorbilidades associadas, pertencentes às três Unidades de Ensino Estruturado do Agrupamento de Escolas Dr. Azevedo Neves no Concelho da Amadora. O mesmo engloba uma revisão da literatura relativa às Perturbações do Espetro do Autismo e à prática psicomotora, o enquadramento legal e institucional, uma descrição dos alunos acompanhados, com especial enfoque nos dois estudos de caso, os quais beneficiaram de intervenção psicomotora de cariz individual e de grupo, e é apresentado o processo de intervenção e avaliação de cada individuo, bem como do restante grupo. Após o processo de intervenção foi possível constatar alguns progressos psicomotores e comportamentais dos indivíduos.

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O presente relatório descreve as atividades de estágio desenvolvidas no âmbito do Mestrado em Reabilitação Psicomotora, Ramo de Aprofundamento de Competências Profissionais, da Faculdade de Motricidade Humana, realizado na Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo (APPDA) - Lisboa, justamente no Centro de Atividades Ocupacionais (CAO) com 47 jovens e adultos e no Centro de Recursos para a Inclusão (CRI) com 21 crianças e jovens, alunos de seis escolas do ensino regular, integrados em Unidades de Ensino Estruturado para o Autismo (UEEA). O estágio profissionalizante desenrolou-se mediante sessões de intervenção psicomotora em ginásio e meio aquático, em contexto de grupo ou individual acompanhando crianças, jovens e adultos com Perturbações do Desenvolvimento e da Aprendizagem, com maior incidência com Perturbações do Espectro do Autismo. O relatório apresenta o enquadramento teórico, legal e institucional e realização da prática profissional, sendo descritos cinco estudos de caso, enquanto modelos exemplificativos do trabalho desenvolvido, adicionando-se uma reflexão acerca da experiência de estágio. Para cada estudo-caso encontra-se descrito o processo de avaliação, estabelecimento de objetivos, programa pedagógico-terapêutico, resultados e respetiva análise. Da referida intervenção foi possível constatar melhorias, tanto a nível psicomotor como emocional e comportamental, sugerindo os benefícios do contributo da intervenção psicomotora nas Perturbações do Desenvolvimento e Aprendizagem.

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Dissertação de Mestrado para obtenção do grau de Mestre em Design de Comunicação, apresentada na Universidade de Lisboa - Faculdade de Arquitectura.