What technology for autism needs to be invented? Idea generation from the autism community via the ASCmeI.T. App

In autism and technology research, technologies are often developed by researchers targeting specific social and communication difficulties experienced by individuals with autism. In some technology-based projects, children and adults with autism as well as parents, carers, teachers, and other professionals, are involved as users, informers, and (more rarely) as co-designers. However, much less is known about the views of the autism community about the needs they identify as areas that could be addressed through innovative technological solutions. This paper describes the ASCmeI.T. project which encourages members of the autism community to download a free app to answer the question: If there was one new technology to help people with autism, what would it be? This project provides a model of e-participation in which people from the autism community are involved from the start so that new developments in digital technologies can be better matched to support the needs of users

Comprehensive detection of recurring genomic abnormalities : a targeted sequencing approach for multiple myeloma

Recent genomic research efforts in multiple myeloma have revealed clinically relevant molecular subgroups beyond conventional cytogenetic classifications. Implementing these advances in clinical trial design and in routine patient care requires a new generation of molecular diagnostic tools. Here, we present a custom capture next-generation sequencing (NGS) panel designed to identify rearrangements involving the IGH locus, arm level, and focal copy number aberrations, as well as frequently mutated genes in multiple myeloma in a single assay. We sequenced 154 patients with plasma cell disorders and performed a head-to-head comparison with the results from conventional clinical assays, i.e., fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarray. Our custom capture NGS panel had high sensitivity (>99%) and specificity (>99%) for detection of IGH translocations and relevant chromosomal gains and losses in multiple myeloma. In addition, the assay was able to capture novel genomic markers associated with poor outcome such as bi-allelic events involving TP53. In summary, we show that a multiple myeloma designed custom capture NGS panel can detect IGH translocations and CNAs with very high concordance in relation to FISH and SNP microarrays and importantly captures the most relevant and recurrent somatic mutations in multiple myeloma rendering this approach highly suitable for clinical application in the modern era

Evaluating the Effectiveness of an Autism-Specific Workplace Tool for Employers: A Randomised Controlled Trial

A randomised controlled trial evaluated the effectiveness of the Integrated Employment Success Tool (IEST™) in improving employers’ self-efficacy in modifying the workplace for individuals on the autism spectrum. Employers (N = 84) were randomised to the IEST™ or support as usual groups. Measurements of self-efficacy, knowledge and attitudes towards disability in the workplace were obtained at baseline and post-test. Results revealed a significant improvement in self-efficacy within the IEST™ group between baseline and post-test (p = 0.016). At post-test, there were no significant differences between groups in relation to self-efficacy in implementing autism-specific workplace modifications and employer attitudes towards disability in the workplace. Given the lack of significant outcomes, further research is needed to determine the effectiveness of the IEST™ for employers