Pubmed du 23/09/19

lundi 23 septembre 2019

1. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States. J Autism Dev Disord ;2019 (Sep 21)

This study examined the experiences of Autism Spectrum Disorder (ASD) genetic testing among parents of children with ASD. A nationwide sample of 552 parents of children with ASD completed an online survey. Nearly one-quarter (22.5%) of the parents reported that their affected children had undergone ASD genetic testing. The testing utilization was associated with awareness of ASD genetic testing and whether information was received from healthcare providers. Among parents whose children with ASD were tested, 37.6% had negative experiences, which mainly due to lack of perceived testing benefits to their affected children and unpleasant testing experiences with healthcare providers. To provide better healthcare services, it is critical to ensure parents understand the purposes, benefits, and results of ASD genetic testing.

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2. Roubertoux PL, Tordjman S, Caubit X, di Cristopharo J, Ghata A, Fasano L, Kerkerian-Le Goff L, Gubellini P, Carlier M. Construct Validity and Cross Validity of a Test Battery Modeling Autism Spectrum Disorder (ASD) in Mice. Behav Genet ;2019 (Sep 21)

Modeling in other organism species is one of the crucial stages in ascertaining the association between gene and psychiatric disorder. Testing Autism Spectrum Disorder (ASD) in mice is very popular but construct validity of the batteries is not available. We presented here the first factor analysis of a behavioral model of ASD-like in mice coupled with empirical validation. We defined fourteen measures aligning mouse-behavior measures with the criteria defined by DSM-5 for the diagnostic of ASD. Sixty-five mice belonging to a heterogeneous pool of genotypes were tested. Reliability coefficients vary from .68 to .81. The factor analysis resulted in a three- factor solution in line with DSM criteria : social behavior, stereotypy and narrowness of the field of interest. The empirical validation with mice sharing a haplo-insufficiency of the zinc-finger transcription factor TSHZ3/Tshz3 associated with ASD shows the discriminant power of the highly loaded items.

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3. Liao X, Lei X, Li Y. Stigma among parents of children with autism : A literature review. Asian J Psychiatr ;2019 (Sep 7) ;45:88-94.

OBJECTIVE : This literature review aims to summarize current findings from studies examined experiences of stigma among parents of children with autism. METHOD : A systematic literature search was carried out to identify relevant studies. Two reviewers independently screened each records based on the selection criteria. Discrepancies were resolved through discussions. Included articles were classified by social-cultural settings. RESULT : 25 studies were identified and included in the review, including 15 qualitative, 8 quantitative, and 2 mixed method studies. Parents do in fact experience courtesy stigma which subsequently develop into affiliate stigma. The study of stigma has not received enough attention for parents of children with autism. There lacked large prevalence studies and longitudinal studies examining stigma among parents of children with autism. CONCLUSION : Parents of children with autism perceived and experienced stigma and various consequences which were varied with behaviors of autism and the severity of symptoms. Further studies should focus on developing intervention that help to erase stigma among parents of children with autism.

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4. Lavery LA, Zoghbi HY. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Curr Opin Neurobiol ;2019 (Sep 19) ;59:180-188.

Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.

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