1. Bekele E, Crittendon J, Zheng Z, Swanson A, Weitlauf A, Warren Z, Sarkar N. {{Assessing the Utility of a Virtual Environment for Enhancing Facial Affect Recognition in Adolescents with Autism}}. {J Autism Dev Disord}. 2014 Jan 14.
Teenagers with autism spectrum disorder (ASD) and age-matched controls participated in a dynamic facial affect recognition task within a virtual reality (VR) environment. Participants identified the emotion of a facial expression displayed at varied levels of intensity by a computer generated avatar. The system assessed performance (i.e., accuracy, confidence ratings, response latency, and stimulus discrimination) as well as how participants used their gaze to process facial information using an eye tracker. Participants in both groups were similarly accurate at basic facial affect recognition at varied levels of intensity. Despite similar performance characteristics, ASD participants endorsed lower confidence in their responses and substantial variation in gaze patterns in absence of perceptual discrimination deficits. These results add support to the hypothesis that deficits in emotion and face recognition for individuals with ASD are related to fundamental differences in information processing. We discuss implications of this finding in a VR environment with regards to potential future applications and paradigms targeting not just enhanced performance, but enhanced social information processing within intelligent systems capable of adaptation to individual processing differences.
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2. Driessen TM, Eisinger BE, Zhao C, Stevenson SA, Saul MC, Gammie SC. {{Genes showing altered expression in the medial preoptic area in the highly social maternal phenotype are related to autism and other disorders with social deficits}}. {BMC neuroscience}. 2014 Jan 14;15(1):11.
BACKGROUND: The mother-child relationship is the most fundamental social bond in mammals, and previous studies indicate that the medial preoptic area (MPOA) contributes to this increase in sociability. It is possible that the same genes that lead to elevated sociability in one condition (the maternal state) might also be dysregulated in some disorders with social deficits (e.g. autism). In this study, we examined whether there was enrichment (greater than chance overlap) for social deficit disorder related genes in MPOA microarray results between virgin and postpartum female mice. We utilized microarrays to assess large scale gene expression changes in the MPOA of virgin and postpartum mice. The Modular Single Set Enrichment Test (MSET) was used to determine if mental health disorder related genes were enriched in significant microarray results. Additional resources, such as ToppCluster, NIH DAVID, and weighted co-expression network analysis (WGCNA) were used to analyze enrichment for specific gene clusters or indirect relationships between significant genes of interest. Finally, a subset of microarray results was validated using quantitative PCR. RESULTS: Significant postpartum MPOA microarray results were enriched for multiple disorders that include social deficits, including autism, bipolar disorder, depression, and schizophrenia. Together, 98 autism-related genes were identified from the significant microarray results. Further, ToppCluser and NIH DAVID identified a large number of postpartum genes related to ion channel activity and CNS development, and also suggested a role for microRNAs in regulating maternal gene expression. WGCNA identified a module of genes associated with the postpartum phenotype, and identified indirect links between transcription factors and other genes of interest. CONCLUSION: The transition to the maternal state involves great CNS plasticity and increased sociability. We identified multiple novel genes that overlap between the postpartum MPOA (high sociability) and mental health disorders with low sociability. Thus, the activity or interactions of the same genes may be altering social behaviors in different directions in different conditions. Maternity also involves elevated risks for disorders, including depression, psychosis, and BPD, so identification of maternal genes common to these disorders may provide insights into the elevated vulnerability of the maternal brain.
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3. Ecker C, Murphy D. {{Neuroimaging in autism-from basic science to translational research}}. {Nature reviews Neurology}. 2014 Jan 14.
Over the past decade, human neuroimaging studies have provided invaluable insights into the neural substrates that underlie autism spectrum disorder (ASD). Although observations from multiple neuroimaging approaches converge in suggesting that changes in brain structure, functioning and connectivity are associated with ASD, the neurobiology of this disorder is complex, and considerable aetiological and phenotypic heterogeneity exists among individuals on the autism spectrum. Characterization of the neurobiological alterations that underlie ASD and development of novel pharmacotherapies for ASD, therefore, requires multidisciplinary collaboration. Consequently, pressure is growing to combine neuroimaging data with information provided by other disciplines to translate research findings into clinically useful biomarkers. So far, however, neuroimaging studies in patients with ASD have mainly been conducted in isolation, and the low specificity of neuroimaging measures has hindered the development of biomarkers that could aid clinical trials and/or facilitate patient identification. Novel approaches to acquiring and analysing data on brain characteristics are currently being developed to overcome these inherent limitations, and to integrate neuroimaging into translational research. Here, we discuss promising new studies of cortical pathology in patients with ASD, and outline how the novel insights thereby obtained could inform diagnosis and treatment of ASD in the future.
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4. Hadjikhani N, Zurcher NR, Rogier O, Hippolyte L, Lemonnier E, Ruest T, Ward N, Lassalle A, Gillberg N, Billstedt E, Helles A, Gillberg C, Solomon P, Prkachin KM, Gillberg C. {{Emotional contagion for pain is intact in autism spectrum disorders}}. {Translational psychiatry}. 2014;4:e343.
Perceiving others in pain generally leads to empathic concern, consisting of both emotional and cognitive processes. Empathy deficits have been considered as an element contributing to social difficulties in individuals with autism spectrum disorders (ASD). Here, we used functional magnetic resonance imaging and short video clips of facial expressions of people experiencing pain to examine the neural substrates underlying the spontaneous empathic response to pain in autism. Thirty-eight adolescents and adults of normal intelligence diagnosed with ASD and 35 matched controls participated in the study. In contrast to general assumptions, we found no significant differences in brain activation between ASD individuals and controls during the perception of pain experienced by others. Both groups showed similar levels of activation in areas associated with pain sharing, evidencing the presence of emotional empathy and emotional contagion in participants with autism as well as in controls. Differences between groups could be observed at a more liberal statistical threshold, and revealed increased activations in areas involved in cognitive reappraisal in ASD participants compared with controls. Scores of emotional empathy were positively correlated with brain activation in areas involved in embodiment of pain in ASD group only. Our findings show that simulation mechanisms involved in emotional empathy are preserved in high-functioning individuals with autism, and suggest that increased reappraisal may have a role in their apparent lack of caring behavior.
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5. Kleijer KT, Schmeisser MJ, Krueger DD, Boeckers TM, Scheiffele P, Bourgeron T, Brose N, Burbach JP. {{Neurobiology of autism gene products: towards pathogenesis and drug targets}}. {Psychopharmacology}. 2014 Jan 14.
RATIONALE: The genetic heterogeneity of autism spectrum disorders (ASDs) is enormous, and the neurobiology of proteins encoded by genes associated with ASD is very diverse. Revealing the mechanisms on which different neurobiological pathways in ASD pathogenesis converge may lead to the identification of drug targets. OBJECTIVE: The main objective is firstly to outline the main molecular networks and neuronal mechanisms in which ASD gene products participate and secondly to answer the question how these converge. Finally, we aim to pinpoint drug targets within these mechanisms. METHOD: Literature review of the neurobiological properties of ASD gene products with a special focus on the developmental consequences of genetic defects and the possibility to reverse these by genetic or pharmacological interventions. RESULTS: The regulation of activity-dependent protein synthesis appears central in the pathogenesis of ASD. Through sequential consequences for axodendritic function, neuronal disabilities arise expressed as behavioral abnormalities and autistic symptoms in ASD patients. Several known ASD gene products have their effect on this central process by affecting protein synthesis intrinsically, e.g., through enhancing the mammalian target of rapamycin (mTOR) signal transduction pathway or through impairing synaptic function in general. These are interrelated processes and can be targeted by compounds from various directions: inhibition of protein synthesis through Lovastatin, mTOR inhibition using rapamycin, or mGluR-related modulation of synaptic activity. CONCLUSIONS: ASD gene products may all feed into a central process of translational control that is important for adequate glutamatergic regulation of dendritic properties. This process can be modulated by available compounds but may also be targeted by yet unexplored routes.
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6. Manderscheid R. {{The Affordable Care Act: Overview and Implications for County and City Behavioral Health and Intellectual/Developmental Disability Programs}}. {Journal of social work in disability & rehabilitation}. 2014 Jan 14.
The author begins by reviewing the five key intended actions of the Affordable Care Act (ACA)-insurance reform, coverage reform, quality reform, performance reform, and Information Technology (IT) reform. This framework provides a basis for examining how populations served and service programs will change at the county and city levels as a result of the ACA, and how provider staff also will change over time as a result of these developments. The author concludes by outlining immediate next steps for county and city programs.
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7. Segal NL. {{Stolen Twin: Fascination and Curiosity/Twin Research Reports: Evolution of Sleep Length; Dental Treatment of Craniopagus Twins; Cryopreserved Double Embryo Transfer; Gender Options in Multiple Pregnancy/Current Events: Appendectomy in One Twin; Autistic Twin Marathon Runners; 3D Facial Recognition; Twin Biathletes}}. {Twin research and human genetics : the official journal of the International Society for Twin Studies}. 2014 Jan 14:1-6.
The story of her allegedly stolen twin brother in Armenia is recounted by a ‘singleton twin’ living in the United States. The behavioral consequences and societal implications of this loss are considered. This case is followed by twin research reports on the evolution of sleep length, dental treatment of craniopagus conjoined twins, cryopreserved double embryo transfer (DET), and gender options in multiple pregnancy. Current events include the diagnosis of appendectomy in one identical twin, the accomplishments of autistic twin marathon runners, the power of three-dimensional (3D) facial recognition, and the goals of twin biathletes heading to the 2014 Sochi Olympics in Russia.
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8. Williams K, Woolfenden S, Roberts J, Rodger S, Bartak L, Prior M. {{Autism in context 2: Assessment, intervention and services in Australia}}. {Journal of paediatrics and child health}. 2014 Jan 14.
Continuing from part 1, part 2 of the autism spectrum disorders review explores clinical practice and service delivery aspects of autism spectrum disorders including current assessment approaches in Australia, family-centred models of care, and key service structure and delivery issues. Treatments including behavioural interventions, established and emergent medication, and complementary and alternative therapies are discussed. The key role of paediatricians as both individual child and family care providers and advocates, as well as agents of service reform in Australia, is evident. Much still needs to be done.
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9. Xiao Z, Qiu T, Ke X, Xiao X, Xiao T, Liang F, Zou B, Huang H, Fang H, Chu K, Zhang J, Liu Y. {{Autism Spectrum Disorder as Early Neurodevelopmental Disorder: Evidence from the Brain Imaging Abnormalities in 2-3 Years Old Toddlers}}. {J Autism Dev Disord}. 2014 Jan 14.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that occurs within the first 3 years of life, which is marked by social skills and communication deficits along with stereotyped repetitive behavior. Although great efforts have been made to clarify the underlying neuroanatomical abnormalities and brain-behavior relationships in adolescents and adults with ASD, literature is still limited in information about the neurobiology of ASD in the early age of life. Brain images of 50 toddlers with ASD and 28 age, gender, and developmental quotient matched toddlers with developmental delay (DD) (control group) between ages 2 and 3 years were captured using combined magnetic resonance-based structural imaging and diffusion tensor imaging (DTI). Structural magnetic resonance imaging was applied to assess overall gray matter (GM) and white matter (WM) volumes, and regional alterations were assessed by voxel-based morphometry. DTI was used to investigate the white matter tract integrity. Compared with DD, significant increases were observed in ASD, primarily in global GM and WM volumes and in right superior temporal gyrus regional GM and WM volumes. Higher fractional anisotropy value was also observed in the corpus callosum, posterior cingulate cortex, and limbic lobes of ASD. The converging findings of structural and white matter abnormalities in ASD suggest that alterations in neural-anatomy of different brain regions may be involved in behavioral and cognitive deficits associated with ASD, especially in an early age of 2-3 years old toddlers.
