21 research outputs found

    Creating a Spoken Impact: encouraging vocalization through audio visual feedback in children with ASD

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    One hallmark difficulty of children with Autism Spectrum Disorder (ASD) centers on communication and speech. Research into computer visualizations of voice has been shown to influence conversational patterns and allow users to reflect upon their speech. In this paper we present the Spoken Impact Project (SIP) examines the effect of audio and visual feedback on vocalizations in low-functioning children with ASD by providing them with additional means of understanding and exploring their voice. This researdh spans over 12 months, including the creation of multiple software packages and detailed analysis of more than 20 hours of experimental video. SIP demonstrates the potential of computer generated audio and visual feedback to shape vocalizations of children with ASD

    Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

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    Contains fulltext : 118576.pdf (publisher's version ) (Open Access)Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3' untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene-environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10(-8)) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10(-10)). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes
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