241 resultados para S?ndrome de Asperger


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Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

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As someone with Asperger's Syndrome, Wendy Lawson knows all about the social difficulties that accompany the condition. In this book, she guides others on the autism spectrum through the confusing map of life, tackling the building bricks of social existence one by one with humour, insight and practical suggestions. Exploring what it is like to be an adult in an alien world, she looks at the concepts of 'self' and 'other' and talks about the people in our lives -- how to relate to them, how we can use their support and how we can protect ourselves in the process. Using poetry and illustrations, she goes on to explain the difficult notion of putting on a face, looks at how to assess personal skills in order to develop them into a suitable career and how to deal with unwelcome changes in life. This book is essential reading for all those on the higher-functioning end of the autism spectrum, helping them to get the best out of a world that is often confusing and aiding those close to them to understand their perspective. Book jacket.