Experimental Neurobiology – Autism Spectrum Disorders (Décembre 2015)
Le numéro de de décembre 2015 de la revue Experimental Neurobiology propose un dossier consacré à l’autisme.
1. Ha S, Sohn IJ, Kim N, Sim HJ, Cheon KA. Characteristics of Brains in Autism Spectrum Disorder : Structure, Function and Connectivity across the Lifespan. Experimental neurobiology. 2015 Dec ;24(4):273-84.
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by impaired social communication and restricted and repetitive behaviors (RRBs). Over the past decade, neuroimaging studies have provided considerable insights underlying neurobiological mechanisms of ASD. In this review, we introduce recent findings from brain imaging studies to characterize the brains of ASD across the human lifespan. Results of structural Magnetic Resonance Imaging (MRI) studies dealing with total brain volume, regional brain structure and cortical area are summarized. Using task-based functional MRI (fMRI), many studies have shown dysfunctional activation in critical areas of social communication and RRBs. We also describe several data to show abnormal connectivity in the ASD brains. Finally, we suggest the possible strategies to study ASD brains in the future.
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2. Lee SY, Lee AR, Hwangbo R, Han J, Hong M, Bahn GH. Is Oxytocin Application for Autism Spectrum Disorder Evidence-Based ?. Experimental neurobiology. 2015 Dec ;24(4):312-24.
Autism spectrum disorder (ASD) is characterized by persistent deficits within two core symptom domains : social communication and restricted, repetitive behaviors. Although numerous studies have reported psychopharmacological treatment outcomes for the core symptom domains of ASD, there are not enough studies on fundamental treatments based on the etiological pathology of ASD. Studies on candidate medications related to the pathogenesis of ASD, such as naltrexone and secretin, were conducted, but the results were inconclusive. Oxytocin has been identified as having an important role in maternal behavior and attachment, and it has been recognized as a key factor in the social developmental deficit seen in ASD. Genetic studies have also identified associations between ASD and the oxytocin pathway. As ASD has its onset in infancy, parents are willing to try even experimental or unapproved treatments in an effort to avoid missing the critical period for diagnosis and treatment, which can place their child in an irreversible state. While therapeutic application of oxytocin for ASD is in its early stages, we have concluded that oxytocin would be a promising therapeutic substance via a thorough literature review focusing on the following : the relationship between oxytocin and sociality ; single nucleotide polymorphisms as a biological marker of ASD ; and validity verification of oxytocin treatment in humans. We also reviewed materials related to the mechanism of oxytocin action that may support its potential application in treating ASD.
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3. Mabunga DF, Gonzales EL, Kim JW, Kim KC, Shin CY. Exploring the Validity of Valproic Acid Animal Model of Autism. Experimental neurobiology. 2015 Dec ;24(4):285-300.
The valproic acid (VPA) animal model of autism spectrum disorder (ASD) is one of the most widely used animal model in the field. Like any other disease models, it can’t model the totality of the features seen in autism. Then, is it valid to model autism ? This model demonstrates many of the structural and behavioral features that can be observed in individuals with autism. These similarities enable the model to define relevant pathways of developmental dysregulation resulting from environmental manipulation. The uncovering of these complex pathways resulted to the growing pool of potential therapeutic candidates addressing the core symptoms of ASD. Here, we summarize the validity points of VPA that may or may not qualify it as a valid animal model of ASD.
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4. Penagarikano O. New Therapeutic Options for Autism Spectrum Disorder : Experimental Evidences. Experimental neurobiology. 2015 Dec ;24(4):301-11.
Autism spectrum disorder (ASD) is characterized by impairment in two behavioral domains : social interaction/communication together with the presence of stereotyped behaviors and restricted interests. The heterogeneity in the phenotype among patients and the complex etiology of the disorder have long impeded the advancement of the development of successful pharmacotherapies. However, in the recent years, the integration of findings of multiple levels of research, from human genetics to mouse models, have made considerable progress towards the understanding of ASD pathophysiology, allowing the development of more effective targeted drug therapies. The present review discusses the current state of pharmacological research in ASD based on the emerging common pathophysiology signature.
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5. Yoo H. Genetics of Autism Spectrum Disorder : Current Status and Possible Clinical Applications. Experimental neurobiology. 2015 Dec ;24(4):257-72.
Autism spectrum disorder (ASD) is one of the most complex behavioral disorders with a strong genetic influence. The objectives of this article are to review the current status of genetic research in ASD, and to provide information regarding the potential candidate genes, mutations, and genetic loci possibly related to pathogenesis in ASD. Investigations on monogenic causes of ASD, candidate genes among common variants, rare de novo mutations, and copy number variations are reviewed. The current possible clinical applications of the genetic knowledge and their future possibilities are highlighted.