1. Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM. {{Peripheral blood gene expression signature differentiates children with autism from unaffected siblings}}. {Neurogenetics};2013 (Apr 28)
Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders with high heritability, yet a majority of genetic contribution to pathophysiology is not known. Siblings of individuals with ASD are at increased risk for ASD and autistic traits, but the genetic contribution for simplex families is estimated to be less when compared to multiplex families. To explore the genomic (dis-) similarity between proband and unaffected sibling in simplex families, we used genome-wide gene expression profiles of blood from 20 proband-unaffected sibling pairs and 18 unrelated control individuals. The global gene expression profiles of unaffected siblings were more similar to those from probands as they shared genetic and environmental background. A total of 189 genes were significantly differentially expressed between proband-sib pairs (nominal p < 0.01) after controlling for age, sex, and family effects. Probands and siblings were distinguished into two groups by cluster analysis with these genes. Overall, unaffected siblings were equally distant from the centroid of probands and from that of unrelated controls with the differentially expressed genes. Interestingly, five of 20 siblings had gene expression profiles that were more similar to unrelated controls than to their matched probands. In summary, we found a set of genes that distinguished probands from the unaffected siblings, and a subgroup of unaffected siblings who were more similar to probands. The pathways that characterized probands compared to siblings using peripheral blood gene expression profiles were the up-regulation of ribosomal, spliceosomal, and mitochondrial pathways, and the down-regulation of neuroreceptor-ligand, immune response and calcium signaling pathways. Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin.
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2. Verhoeven EW, Smeekens I, Didden R. {{Brief Report: Suitability of the Social Skills Performance Assessment (SSPA) for the Assessment of Social Skills in Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Apr 28)
The present study aims at examining whether the ‘Social Skills Performance Assessment’ (SSPA; Patterson et al. in Schizophr Res 48(2-3):351-360, 2001) is a suitable performance-based measure to assess social skills in adults with autism spectrum disorders (ASD). For this purpose, social skills of individuals with ASD and non-ASD participants were assessed through the SSPA role plays. Results of this study suggest that the SSPA is suitable for the assessment of social skills in adults with ASD. The SSPA discriminates between individuals with ASD and non-ASD individuals, with the ASD group scoring significantly lower. Although no evidence was found for convergent validity of the SSPA in participants with ASD, divergent validity of the SSPA and interrater reliability among adults with ASD were good.
