caa a22 4500 445860502 CHVBK 20180317145441.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s00439-011-1037-2 doi (NATIONALLICENCE)springer-10.1007/s00439-011-1037-2 Risk factors for autism: translating genomic discoveries into diagnostics [Elektronische Daten] [Stephen Scherer, Geraldine Dawson] Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a ‘standard of care' test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs. Springer-Verlag, 2011 Scherer Stephen McLaughlin Centre and The Centre for Applied Genomics, The Hospital for Sick Children, M5G 1L7, Toronto, ON, Canada aut Dawson Geraldine Autism Speaks and Department of Psychiatry, University of North Carolina, Chapel Hill, 4120 Bioinformatics Building, 130 Mason Farm Road, Campus Box 3366, 27599-3366, Chapel Hill, NC, USA aut Human Genetics Springer-Verlag 130/1(2011-07-01), 123-148 0340-6717 130:1<123 2011 130 439 https://doi.org/10.1007/s00439-011-1037-2 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1037-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Scherer Stephen McLaughlin Centre and The Centre for Applied Genomics, The Hospital for Sick Children, M5G 1L7, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Dawson Geraldine Autism Speaks and Department of Psychiatry, University of North Carolina, Chapel Hill, 4120 Bioinformatics Building, 130 Mason Farm Road, Campus Box 3366, 27599-3366, Chapel Hill, NC, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/1(2011-07-01), 123-148 0340-6717 130:1<123 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer