Pubmed du 23/03/15

Pubmed du jour

2015-03-23 12:03:50

1. Blackmon K. {{Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy}}. {Epilepsy Behav};2015 (Mar 23)
Etiological factors that contribute to a high comorbidity between autism spectrum disorder (ASD) and epilepsy are the subject of much debate. Does epilepsy cause ASD or are there common underlying brain abnormalities that increase the risk of developing both disorders? This review summarizes evidence from quantitative MRI studies to suggest that abnormalities of brain structure are not necessarily the consequence of ASD and epilepsy but are antecedent to disease expression. Abnormal gray and white matter volumes are present prior to onset of ASD and evident at the time of onset in pediatric epilepsy. Aberrant brain growth trajectories are also common in both disorders, as evidenced by blunted gray matter maturation and white matter maturation. Although the etiological factors that explain these abnormalities are unclear, high heritability estimates for gray matter volume and white matter microstructure demonstrate that genetic factors assert a strong influence on brain structure. In addition, histopathological studies of ASD and epilepsy brain tissue reveal elevated rates of malformations of cortical development (MCDs), such as focal cortical dysplasia and heterotopias, which supports disruption of neuronal migration as a contributing factor. Although MCDs are not always visible on MRI with conventional radiological analysis, quantitative MRI detection methods show high sensitivity to subtle malformations in epilepsy and can be potentially applied to MCD detection in ASD. Such an approach is critical for establishing quantitative neuroanatomic endophenotypes that can be used in genetic research. In the context of emerging drug treatments for seizures and autism symptoms, such as rapamycin and rapalogs, in vivo neuroimaging markers of subtle structural brain abnormalities could improve sample stratification in human clinical trials and potentially extend the range of patients that might benefit from treatment. This article is part of a Special Issue entitled « Autism and Epilepsy ».

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2. Gillespie-Lynch K, Brooks PJ, Someki F, Obeid R, Shane-Simpson C, Kapp SK, Daou N, Smith DS. {{Changing College Students’ Conceptions of Autism: An Online Training to Increase Knowledge and Decrease Stigma}}. {J Autism Dev Disord};2015 (Mar 22)
College students with autism may be negatively impacted by lack of understanding about autism on college campuses. Thus, we developed an online training to improve knowledge and decrease stigma associated with autism among college students. Participants (N = 365) completed a pre-test, online training, and post-test. Women reported lower stigma towards autism than men. Participation in the training was associated with decreased stigma and increased knowledge about autism. Although participants exhibited relatively high baseline knowledge of autism, misconceptions were common, particularly in open-ended responses. Participants commonly confused autism with other disorders, such as learning disabilities. This study suggests that online training may be a cost-effective way to increase college students’ understanding and acceptance of their peers with autism.

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3. Hu Y, Chen Z, Fu Y, He Q, Jiang L, Zheng J, Gao Y, Mei P, Ren X. {{The amino-terminal structure of human fragile X mental retardation protein obtained using precipitant-immobilized imprinted polymers}}. {Nat Commun};2015;6:6634.

Flexibility is an intrinsic property of proteins and essential for their biological functions. However, because of structural flexibility, obtaining high-quality crystals of proteins with heterogeneous conformations remain challenging. Here, we show a novel approach to immobilize traditional precipitants onto molecularly imprinted polymers (MIPs) to facilitate protein crystallization, especially for flexible proteins. By applying this method, high-quality crystals of the flexible N-terminus of human fragile X mental retardation protein are obtained, whose absence causes the most common inherited mental retardation. A novel KH domain and an intermolecular disulfide bond are discovered, and several types of dimers are found in solution, thus providing insights into the function of this protein. Furthermore, the precipitant-immobilized MIPs (piMIPs) successfully facilitate flexible protein crystal formation for five model proteins with increased diffraction resolution. This highlights the potential of piMIPs for the crystallization of flexible proteins.

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4. Smith IC, Reichow B, Volkmar FR. {{The Effects of DSM-5 Criteria on Number of Individuals Diagnosed with Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2015 (Mar 22)
A growing body of research has raised concerns about the number of individuals diagnosed with autism spectrum disorder (ASD) according to DSM-IV-TR who may no longer qualify for diagnoses under the new DSM-5 criteria, published in May 2013. The current study systematically reviews 25 articles evaluating samples according to both DSM-IV-TR and DSM-5 ASD criteria. Consistent with previous reviews, the majority of included studies indicated between 50 and 75 % of individuals will maintain diagnoses. We conducted visual analyses of subgroups using harvest plots and found the greatest decreases among high-functioning populations with IQs over 70 and/or previous diagnoses of PDD-NOS or Asperger’s disorder. We discuss the potential research and clinical implications of reduced numbers of individuals diagnosed with ASD.

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