1. Kuo PH, Chuang LC, Su MH, Chen CH, Wu JY, Yen CJ, Wu YY, Liu SK, Chou MC, Chou WJ, Chiu YN, Tsai WC, Gau SS. {{Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population}}. {PLoS One};2015;10(9):e0138695.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic components. Several recent genome-wide association (GWA) studies in Caucasian samples have reported a number of gene regions and loci correlated with the risk of ASD-albeit with very little consensus across studies. METHODS: A two-stage GWA study was employed to identify common genetic variants for ASD in the Taiwanese Han population. The discovery stage included 315 patients with ASD and 1,115 healthy controls, using the Affymetrix SNP array 6.0 platform for genotyping. Several gene regions were then selected for fine-mapping and top markers were examined in extended samples. Single marker, haplotype, gene-based, and pathway analyses were conducted for associations. RESULTS: Seven SNPs had p-values ranging from 3.4~9.9*10-6, but none reached the genome-wide significant level. Five of them were mapped to three known genes (OR2M4, STYK1, and MNT) with significant empirical gene-based p-values in OR2M4 (p = 3.4*10-5) and MNT (p = 0.0008). Results of the fine-mapping study showed single-marker associations in the GLIS1 (rs12082358 and rs12080993) and NAALADL2 (rs3914502 and rs2222447) genes, and gene-based associations for the OR2M3-OR2T5 (olfactory receptor genes, p = 0.02), and GLIPR1/KRR1 gene regions (p = 0.015). Pathway analyses revealed important pathways for ASD, such as olfactory and G protein-coupled receptors signaling pathways. CONCLUSIONS: We reported Taiwanese Han specific susceptibility genes and variants for ASD. However, further replication in other Asian populations is warranted to validate our findings. Investigation in the biological functions of our reported genetic variants might also allow for better understanding on the underlying pathogenesis of autism.
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2. Laghi F, Federico F, Lonigro A, Levanto S, Ferraro M, Baumgartner E, Baiocco R. {{Peer and Teacher-Selected Peer Buddies for Adolescents With Autism Spectrum Disorders: The Role of Social, Emotional, and Mentalizing Abilities}}. {J Psychol};2015 (Sep 23):1-22.
This study examined mentalizing abilities, social behavior, and social impact of adolescents who expressed the willingness to become peer buddies for adolescents with Autism Spectrum Disorders, and adolescents selected by their teachers and peers. Twenty-seven teachers and 395 adolescents from public high schools completed mentalizing abilities, social status, behavioral, and peer buddy nomination measures. Findings suggest that social status and preference play a significant role in the selection of peer buddies by both teachers and classmates. Furthermore, more advanced Theory of Mind (ToM) abilities and the engagement in prosocial behaviors differentiated peers selected as buddies from other classmates. When compared with nonparticipating students, adolescents who expressed willingness to participate were more often girls, and were more prosocial. Agreement between teacher and peer nominations of best peer was moderate.
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3. Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Riviere JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. {{A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability}}. {Eur J Hum Genet};2015 (Sep 23)
Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susceptibility gene for autism spectrum disorders (ASDs). We first identified a de novo translocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5A gene. We delineated the breakpoint by NGS and observed that no gene was disrupted on chromosome 22. We then used Sanger sequencing to search for deleterious variants affecting SEMA5A in 142 patients with ASD. We also identified two independent heterozygous variants located in a conserved functional domain of the protein. Both variants were maternally inherited and predicted as deleterious. Our genetic screens identified the first case of a de novo SEMA5A microdeletion in a patient with ASD and ID. Although our study alone cannot formally associate SEMA5A with susceptibility to ASD, it provides additional evidence that Semaphorin dysfunction could lead to ASD and ID. Further studies on Semaphorins are warranted to better understand the role of this family of genes in susceptibility to neurodevelopmental disorders.European Journal of Human Genetics advance online publication, 23 September 2015; doi:10.1038/ejhg.2015.211.
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4. Percinel I, Yazici KU. {{The Use of Aripiprazole in Young Children with Autism Spectrum Disorders: The Treatment and 16 Week Follow-Up of a 23-Month-old Male Patient}}. {J Child Adolesc Psychopharmacol};2015 (Sep 23)
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5. Tang L, Bie B. {{The stigma of autism in China: an analysis of newspaper portrayals of autism between 2003 and 2012}}. {Health Commun};2015 (Sep 23):1-8.
Autism is a highly stigmatized developmental disability in many societies, and the media are major contributors to such stigma. Presented here is the first systematic analysis of Chinese newspapers’ coverage of autism for stigma-causing content. More specifically, this analysis examines the age of autistic people reported, the image of autistic people, and the use of stigma cues (in terms of peril, mark, and shame) and challenge cues (in terms of personification, hope, and fight) in five leading newspapers in China between 2003 and 2012. It finds that while the reportage of autism increases over time, which might contribute to the public’s heightened awareness of the condition, such reportage is often biased. The most common stereotypes about autism in Chinese newspapers are autistic people as children, as patients, or as savants. The most often-used challenge cues are personification and hope, but their uses significantly decrease in percentage from 2003 to 2012. The most often used stigma cues are peril and mark. The use of the shame cue is relatively less frequent, but it increases significantly over the 10-year period. Theoretically, this article provides an application of stigma communication theory in a non-Western context. Practically, it not only contributes to the current knowledge about media representation of autism in China, but also suggests that it is important for media agencies and health care professionals to promote media guidelines and train health journalists for reporting disability issues in a nonstigmatizing way.
