2 resultados para People with intellectual disabilities

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)


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People with disabilities have a right to a full life in every sense and one of those fundamental rights is the possibility to work. In this paper, the importance of social employment integration of disabled people is highlighted as one of the stakeholders to be satisfied by companies in the new framework that corporate social responsibility is constructing. The objective of the paper is to revise the benefits of some well-known operations research/management science tools that, if applied correctly, have a double positive impact on work accessibility and improved productivity. The responses collected from managers of Valencia`s ShelteredWork Centres for Disabled by means of a structured questionnaire are used to analyse the level of implementation of these tools and their impact depending on the type of centre, the kind of disability and other structural variables.

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Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.