1. Ahmad SF, Nadeem A, Ansari MA, Bakheet SA, Attia SM, Zoheir KM, Al-Ayadhi LY, Alzahrani MZ, Alsaad AM, Alotaibi MR, Abd-Allah AR. {{Imbalance between the anti- and pro-inflammatory milieu in blood leukocytes of autistic children}}. {Mol Immunol};2016 (Dec 24);82:57-65.
Accumulating evidence suggests an association between immune dysfunction and autism disorders in a significant subset of children. In addition, an imbalance between pro- and anti-inflammatory pathways has been proposed to play an important role in the pathogenesis of several neurodevelopmental disorders including autism; however, the role of anti-inflammatory molecules IL-27 and CTLA-4 and pro-inflammatory cytokines IL-21 and IL-22 has not previously been explored in autistic children. In the current study, we investigated the expression of IL-21, IL-22, IL-27, and CD152 (CTLA-4) following an in-vitro immunological challenge of peripheral blood mononuclear cells (PBMCs) from children with autism (AU) or typically-developing children (TD) with phorbol-12-myristate 13-acetate (PMA) and ionomycin. In our study, cells from children with AU had increased IL-21 and IL-22 and decreased CTLA-4 expression on CD4+ T cells as compared with cells from the TD control. Similarly, AU cells showed decreased IL-27 production by CD14+ cells compared to that of TD control cells. These results were confirmed by real-time PCR and western blot analyses. Our study shows dysregulation of the immune balance in cells from autistic children as depicted by enhanced pro-inflammatory cytokines, ‘IL-21/IL-22’ and decreased anti-inflammatory molecules, ‘IL-27/CTLA-4’. Thus, further study of this immune imbalance in autistic children is warranted in order to facilitate development of biomarkers and therapeutics.
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2. Ali A, Cui X, Eyles D. {{Developmental Vitamin D deficiency and Autism: Putative pathogenic mechanisms}}. {J Steroid Biochem Mol Biol};2016 (Dec 24)
Autism is a neurodevelopmental disease that presents in early life. Despite a considerable amount of studies, the neurobiological mechanisms underlying autism remain obscure. Both genetic and environmental factors are involved in the development of autism. Vitamin D deficiency is emerging as a consistently reported risk factor in children. One reason for the prominence now being given to this risk factor is that it would appear to interact with several other epidemiological risk factors for autism. Vitamin D is an active neurosteroid and plays crucial neuroprotective roles in the developing brain. It has important roles in cell proliferation and differentiation, immunomodulation, regulation of neurotransmission and steroidogenesis. Animal studies have suggested that transient prenatal vitamin D deficiency is associated with altered brain development. Here we review the potential neurobiological mechanisms linking prenatal vitamin D deficiency and autism and also discuss what future research targets must now be addressed.
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3. Corbett BA. {{Autism, Art, and Accessibility to Theater}}. {AMA J Ethics};2016 (Dec 01);18(12):1232-1240.
Art has the ability to entertain and educate about many vital aspects of the human experience. Recently, innovative endeavors are providing greater accessibility to theatrical productions for people with autism spectrum disorder (ASD), prompting ethical questions about how accommodations to provide access to art and culture should be made, and for whom. This article uses an attributional model of stigma to explain potential differences in knowledge, attitudes, and behavior toward people with mental illness. This social cognitive model also provides clues about how to spur social change through translational education, familiarization, and advocacy to permit greater access to art for people with disabilities.
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4. Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, Xu L, Boyd K, Williams J, Kang JQ. {{Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation}}. {Cell Rep};2016 (Dec 20);17(12):3115-3124.
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy. Using exome and RNA sequencing, we confirmed that only the Gabrb3 gene was disrupted while the Oca2 gene was intact. However, mRNA abundance of Oca2 and other genes adjacent to Gabrb3 is substantially reduced in Gabrb3-/- mice, suggesting complex transcriptional regulation in this region. These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS.
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5. Kawa R, Saemundsen E, Loa Jonsdottir S, Hellendoorn A, Lemcke S, Canal-Bedia R, Garcia-Primo P, Moilanen I. {{European studies on prevalence and risk of autism spectrum disorders according to immigrant status-a review}}. {Eur J Public Health};2016 (Dec 24)
BACKGROUND: Autism spectrum disorders (ASDs), once considered to be rare, are now reaching prevalence estimates of 1% and higher. Studies conducted in North America indicate large racial/ethnic disparities in the diagnosis of ASDs. Others show, that immigrant children have similar prevalence rates of ASDs as native children, although they are diagnosed later compared with native children. In relation to a EU funded network action, Enhancing the Scientific Study of Early Autism, it was considered important to review the literature on this subject. METHOD: A comprehensive literature search was undertaken for original articles reporting on prevalence and risk for ASD in Europe among immigrants and ethnic minorities and data across studies were compared. RESULTS: Seventeen studies conducted in Europe concerning immigrants and ethnic minorities were found. Fifteen studies suggest a higher prevalence rate of ASDs among children of immigrants in comparison to native children (RR = 1.02-1.74; OR = 0.6-10.5). One study revealed higher prevalence of autism (OR = 2.2; 95% CI 1.6-3.1) and lower prevalence of Asperger syndrome in immigrants (OR = 0.6; 95% CI 0.3-0.97). One study showed a lower prevalence of Asperger syndrome in immigrants (aOR = 0.1, 95% CI 0.01-0.5). The majority of those analyses involved immigrants from outside Europe, e.g. from Africa and South America. CONCLUSION: After analysing the results of studies conducted in Europe, it is unclear if higher prevalence estimates of ASDs among immigrants in this region reflect true differences, especially considering many potential confounding factors, e.g. genetic, biological, environmental and cultural. Considering the number of people migrating within Europe there is a substantial need to study further the prevalence of ASDs in immigrant groups.
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6. Poon KK, Sidhu DJ. {{Adults with autism spectrum disorders: a review of outcomes, social attainment, and interventions}}. {Curr Opin Psychiatry};2016 (Dec 21)
PURPOSE OF REVIEW: With the increasing incidence of individuals diagnosed with autism spectrum disorders, there is a need to develop programs to support them throughout their lifespan but research in adulthood support is still scarce. This article aims to provide an up-to-date review of the research on the core characteristics of autism spectrum disorder (ASD), social attainments, and efforts to improve their outcomes. RECENT FINDINGS: The core social communication impairments continue into adulthood among persons with ASD, but the restrictive, repetitive patterns of behavior and activities have received less attention. Adults with ASD experience more behavioral and emotional regulation issues than their peers. In terms of social attainments, adults with ASD have a greater tendency to be overeducated for their jobs and have a lower employment rate. They are also more likely to live with their parents. Interventions make a positive impact upon social communication skills and employment. SUMMARY: Future research could focus on the repetitive behavior of adults with ASD. Likewise, interventions examining the extent to which repetitive behavior and interests can be managed, as well as the degree to which they can be supported in their community access, living arrangements, as well as family quality of life can be further conducted.
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7. Varcin KJ, Jeste SS. {{The emergence of autism spectrum disorder: insights gained from studies of brain and behaviour in high-risk infants}}. {Curr Opin Psychiatry};2016 (Dec 21)
PURPOSE OF REVIEW: We review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on prebehavioural markers of risk and mechanisms underlying the heterogeneity of ASD. RECENT FINDINGS: Prospective, longitudinal studies of infants at risk for ASD have revealed that behavioural signs of ASD are generally not observed until the second year of life. The developmental signs within the first year are often subtle and rooted in processes outside the core diagnostic domains of ASD, such as motor and visual perceptual function. However, studies examining early brain development and function have identified a myriad of atypicalities within the first year that are associated with risk for ASD. SUMMARY: Longitudinal studies of high-risk infants provide a unique opportunity to identify and quantify the sources of the atypical development and developmental heterogeneity of ASD. Integration of assays of behaviour and brain in the first year of life, expansion of the definition of high risk, and coordinated efforts in multisite investigations to adequately power integrative studies will lead to new insights into mechanisms of atypical development and, ultimately, the ideal timing and target for interventions that aim to attenuate delays or impairments.
