Pubmed du 06/07/19

samedi 6 juillet 2019

1. Black MH, Mahdi S, Milbourn B, Thompson C, D’Angelo A, Strom E, Falkmer M, Falkmer T, Lerner M, Halladay A, Gerber A, Esposito C, Girdler S, Bolte S. Perspectives of key stakeholders on employment of autistic adults across the united states, australia, and sweden. Autism Res. 2019.

Despite efforts to improve employment outcomes for autistic individuals, internationally their employment rates remain low. There is a need to better understand the factors influencing successful employment for autistic adults in the labor market from the perspectives of multiple key stakeholders. This study represents the second in a series of papers conducted as part of an International Society for Autism Research policy brief aimed at improving employment outcomes for autistic individuals. A community consultation methodology using focus groups, forums, and interviews was applied with autistic individuals (n = 19), family members (n = 18), service providers (n = 21), employers (n = 11), researchers (n = 5), and advocacy group representatives (n = 5) in Australia, Sweden, and the United States, aiming to identify the factors perceived to determine gaining and maintaining employment for autistic individuals. Directed content analysis, guided by the International Classification of Functioning, Disability and Health (ICF), was conducted to investigate the key factors influencing employment outcomes for autistic individuals. Meaningful verbal concepts, or units of text with common themes, were also derived from the qualitative data and then linked and compared to the ICF Autism Spectrum Disorder (ASD) Core-sets. Across countries, activity and participation and environmental factor categories of the ICF were the most associated with employment outcomes. Results suggest that removal of environmental barriers and enhancing environmental facilitators may assist to remediate ASD-related difficulties in the workplace. Autism Res 2019, (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study sought to understand the perspectives of autistic individuals and key stakeholders on factors influencing if autistic adults get and keep jobs. Across Australia, Sweden, and the United States, focus groups and interviews were conducted to understand international perspectives on what helps and hinders getting and keeping a job for autistic individuals. The environment, including supports, relationships, attitudes, and services, were perceived to be the most important for workplace success. Intervention targeting barriers and facilitators in the workplace environment may support autistic adults to be successful in the labor market.

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2. Bremer E, Cairney J. Reliable and Feasible Fitness Testing for Children on the Autism Spectrum. Research quarterly for exercise and sport. 2019 : 1-10.

Purpose : This study examined the test-retest reliability and feasibility of select fitness assessments in 7-12 year old children on the autism spectrum. Method : Participants (N = 14 ; n = 1 female ; Mage = 9.5 +/- 1.7 years) completed 7 fitness assessments, administered in a random order, on two occasions : Bruce protocol ; Modified 6-minute walk test (M6MWT) ; Wingate anaerobic cycling test ; muscle power sprint test (MPST) ; sit & reach ; standing long jump ; and grip strength. Intraclass correlations (two-way mixed with absolute agreement) were computed to examine test-retest reliability. Feasibility was assessed by questionnaire following the first administration of each test. Results : The Wingate (ICC = .956), standing long jump (ICC = .925), grip strength (ICC = .913), and sit and reach (ICC = .829) tests demonstrated good- to- excellent reliability, while the Bruce protocol (ICC = .811), M6MWT (ICC = .510), and MPST (ICC = .703) demonstrated moderate- to- good reliability based on the 95% confidence intervals of the ICC. All tests demonstrated assessor-rated feasibility scores of 70/100 or higher and child-rated feasibility scores of 66/100 or higher. Conclusion : The results demonstrate moderate- to excellent test-retest reliability for select fitness tests. Short, single-instruction (e.g., standing long jump) tests may be more reliable than lengthier assessments (e.g., M6MWT) in this population. Implications of this work include the ability of practitioners and researchers to feasibly and reliably measure the fitness of school-aged children on the autism spectrum for ongoing health and behavioural monitoring and intervention purposes.

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3. Chin EWM, Goh ELK. Behavioral Characterization of MeCP2 Dysfunction-Associated Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, NJ). 2019 ; 2011 : 593-605.

The methyl-CpG-binding protein 2 (MECP2) gene has been implicated in multiple neuropsychiatric disorders such as autism and schizophrenia and, most notably, Rett syndrome (RTT). Mouse models of MeCP2 dysfunction that have been developed are thus important not only for examining the protein’s contribution to RTT, but also for elucidating the etiologies of other MECP2-associated neuropsychiatric disorders. In this chapter, we present protocols for three behavioral assays for characterizing major functional domains of MeCP2 dysfunction-the open field test for measuring general locomotor activity and anxiety-like behavior, the three-chambered Crawley box test for assessing social preference and social novelty, and the rotarod assay for testing locomotor coordination. It is hoped that these information facilitate systematic characterization of mouse models that may aid in elucidating the role of MeCP2 in neurological disorders, as well as assessing the effects of putative mechanistic and therapeutic interventions.

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4. Chin EWM, Goh ELK. MeCP2 Dysfunction in Rett Syndrome and Neuropsychiatric Disorders. Methods in molecular biology (Clifton, NJ). 2019 ; 2011 : 573-91.

Elucidating the functions of a particular gene is paramount to the understanding of how its dysfunction contributes to disease. This is especially important when the gene is implicated in multiple different disorders. One such gene is methyl-CpG-binding protein 2 (MECP2), which has been most prominently associated with the neurodevelopmental disorder Rett syndrome, as well as major neuropsychiatric disorders such as autism and schizophrenia. Being initially identified as a transcriptional regulator that modulates gene expression and subsequently also shown to be involved in other molecular events, dysfunction of the MeCP2 protein has the potential to affect many cellular processes. In this chapter, we will briefly review the functions of the MeCP2 protein and how its mutations are implicated in Rett syndrome and other neuropsychiatric disorders. We will further discuss about the mouse models that have been generated to specifically dissect the function of MeCP2 in different cell types and brain regions. It is envisioned that such thorough and targeted examination of MeCP2 functions can aid in enlightening the role that it plays in normal and dysfunctional physiological systems.

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5. Dai YG, Brennan L, Como A, Hughes-Lika J, Dumont-Mathieu T, Rathwell IC, Minxhozi O, Aliaj B, Fein DA. A Video Parent-Training Program for Families of Children with Autism Spectrum Disorder in Albania. Res Autism Spectr Disord. 2018 ; 56 : 36-49.

Background : Behavioral intervention with parent participation is effective in reducing symptoms of Autism Spectrum Disorder (ASD), but access to intervention is limited. The current study explored whether a video-enriched parent-training program would (a) be comprehensible and acceptable to parents in the Republic of Albania, (b) increase parental knowledge of behavioral strategies and (c) increase parental self-efficacy. Methods : Twenty-nine parents of children with ASD aged 18-70 months completed the Early Intervention Parenting Self-Efficacy Scale (EIPSES, Guimond, Wilcox, & Lamorey, 2008) and a quiz to assess their knowledge of behavioral strategies. Parents in the Treatment Group then received access to a parent-training (PT) program on evidence-based teaching and behavior management techniques. The program was based on empirical research, but considered Albanian cultural norms and included topics Albanian parents requested. Parents in the Treatment Group rated the program using the Treatment Evaluation Inventory Short Form (TEI-SF ; Kelley, Heffer, Gresham, & Elliott, 1989). Change in parents’ quiz scores and EIPSES ratings from baseline to post-treatment were compared by group. Results : Parents rated this video training program as comprehensible and valuable. The program modestly increased aspects of self-efficacy as well as parents’ knowledge of effective teaching strategies. Conclusion : Remote PT may be useful in low-resource settings to help parents develop techniques for teaching skills and forestalling problem behavior in children with ASD. Additional research, with a larger sample size, that observes the effect of the program on child behavior is warranted.

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6. Dijkhuis R, Gurbuz E, Ziermans T, Staal W, Swaab H. Social Attention and Emotional Responsiveness in Young Adults With Autism. Frontiers in psychiatry. 2019 ; 10 : 426.

Children with autism spectrum disorder (ASD) are generally characterized by marked impairments in processing of social emotional information, but less is known about emotion processing in adults with the disorder. This study aimed to address this by collecting data on social attention (eye tracking), emotional arousal (skin conductance level, SCL), and emotional awareness (self-report) in a paradigm with social emotional video clips. Fifty-two young, intelligent adults with ASD (IQrange = 88-130, Agerange = 18-24) and 31 typically developing (TD) ASD (IQrange = 94-139, Agerange = 19-28) gender matched controls participated and reported on severity of autism symptoms [Social Responsiveness Scale for Adults (SRS-A)]. Results showed no group difference in social attention, while autism symptom severity was related to decreased attention to faces across participants (r = -.32). Average SCL was lower in the ASD group, but no group difference in arousal reactivity (change from baseline to emotional phases) was detected. Lower SCL during video clips was related to autism symptom severity across participants (r = -.29). ASD individuals reported lower emotional awareness. We conclude that, even though no deviations in social attention or emotional reactivity were found in ASD, an overall lower level of social attention and arousal may help explain difficulties in social functioning in ASD.

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7. Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, IntHout J, Zweier C, Eichler EE, von Reyn CR, Bernier RA, Asztalos Z, Schenck A. Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders. Biol Psychiatry. 2019.

BACKGROUND : Although habituation is one of the most ancient and fundamental forms of learning, its regulators and its relevance for human disease are poorly understood. METHODS : We manipulated the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid autism spectrum disorder (ASD) specifically in Drosophila neurons, and we tested these models in light-off jump habituation. We dissected neuronal substrates underlying the identified habituation deficits and integrated genotype-phenotype annotations, gene ontologies, and interaction networks to determine the clinical features and molecular processes that are associated with habituation deficits. RESULTS : We identified >100 genes required for habituation learning. For 93 of these genes, a role in habituation learning was previously unknown. These genes characterize ID disorders with macrocephaly and/or overgrowth and comorbid ASD. Moreover, individuals with ASD from the Simons Simplex Collection carrying damaging de novo mutations in these genes exhibit increased aberrant behaviors associated with inappropriate, stereotypic speech. At the molecular level, ID genes required for normal habituation are enriched in synaptic function and converge on Ras/mitogen-activated protein kinase (Ras/MAPK) signaling. Both increased Ras/MAPK signaling in gamma-aminobutyric acidergic (GABAergic) neurons and decreased Ras/MAPK signaling in cholinergic neurons specifically inhibit the adaptive habituation response. CONCLUSIONS : Our work supports the relevance of habituation learning to ASD, identifies an unprecedented number of novel habituation players, supports an emerging role for inhibitory neurons in habituation, and reveals an opposing, circuit-level-based mechanism for Ras/MAPK signaling. These findings establish habituation as a possible, widely applicable functional readout and target for pharmacologic intervention in ID/ASD.

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8. Graf WD. Deconstructing the autism concept and its semantics. Dev Med Child Neurol. 2019.

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9. Griffin MM, Fisher MH, Lane LA, Morin L. Responses to bullying among individuals with intellectual and developmental disabilities : Support needs and self-determination. J Appl Res Intellect Disabil. 2019.

BACKGROUND : Compared to the general population, individuals with intellectual and developmental disabilities (IDD) more often experience bullying and its negative social and emotional impacts. Prior studies explored bullying of individuals with IDD primarily through investigations of the perspectives of others and the negative impacts of bullying. The current study examined how individuals with IDD describe their responses to experiences of bullying, with a focus on whether responses included component skills of self-determination. METHOD : Eighteen adults with IDD (50% female) aged 18-63 years were interviewed about their experiences with bullying. Interviews were analysed to determine responses to bullying and the degree to which their responses demonstrated self-determination. RESULTS : Data analysis revealed two primary themes, outside support and self-determination, with additional subthemes. CONCLUSIONS : Findings provide a more nuanced description of the ways in which individuals with IDD respond to bullying, including the demonstration of self-determination skills. Implications for research and practice are discussed.

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10. Griffiths S, Allison C, Kenny R, Holt R, Smith P, Baron-Cohen S. The Vulnerability Experiences Quotient (VEQ) : A Study of Vulnerability, Mental Health and Life Satisfaction in Autistic Adults. Autism Res. 2019.

Co-morbid mental health conditions such as anxiety and depression are extremely common in autistic adults. Vulnerability to negative life experiences such as victimisation and unemployment may be partially responsible for the development of these conditions. Here we measure the frequency of negative life experiences in autistic adults and explore how these are associated with current anxiety and depression symptoms and life satisfaction. We developed the Vulnerability Experiences Quotient (VEQ) through stakeholder consultation. The VEQ includes 60 items across 10 domains. Autistic adults with a clinical diagnosis and non-autistic controls completed the VEQ, screening measures for anxiety and depression, and a life-satisfaction scale in an online survey. Likelihood of experiencing each VEQ event was compared between groups, using binary logistic regression. Mediation analysis was used to test whether total VEQ score mediated the relationship between autism and (1) depression (2) anxiety and (3) life satisfaction. Autistic adults (N = 426) reported higher rates of the majority of events in the VEQ than non-autistic adults (N = 268). They also reported more anxiety and depression symptoms and lower life satisfaction. Group differences in anxiety, depression and life satisfaction were partially mediated by VEQ total score. This study highlights several important understudied areas of vulnerability for autistic adults, including domestic abuse, contact with social services (as parents) and financial exploitation and hardship. Improved support, advice and advocacy services are needed to reduce the vulnerability of autistic adults to negative life experiences, which may in turn improve mental health and life satisfaction in this population. Autism Res2019. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : This study investigated whether autistic adults are more vulnerable to certain negative life experiences, and whether these experiences are related to anxiety, depression and life satisfaction. We found that autistic adults are more vulnerable to many different negative life events, including employment difficulties, financial hardship and domestic abuse. Negative life experiences partially explained the higher rates of anxiety and depression symptoms and lower life satisfaction in autistic adults compared to non-autistic adults. Improved support services are required to reduce the vulnerability of autistic adults. Reducing vulnerability may improve mental health and increase life satisfaction in this population.

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11. Lee CE, Burke M, Arnold CK, Owen A. Correlates of current caregiving among siblings of adults with intellectual and developmental disabilities. J Appl Res Intellect Disabil. 2019.

BACKGROUND : As individuals with intellectual and developmental disabilities (IDD) grow older, siblings are likely to become caregivers for their brothers and sisters with IDD. Thus, it is important to identify the correlates of sibling caregiving to facilitate transitions to caregiving roles. METHOD : This study involved the secondary analysis of a national data set of 429 adult siblings of individuals with IDD. RESULTS : Current sibling caregiving was positively correlated with sibling relationship quality, sibling advocacy and future planning, maladaptive behaviours of individuals with IDD, and family size. Current sibling caregiving was negatively correlated with parent caregiving abilities and functional abilities of individuals with IDD. Further, among siblings who provided care, the level and nature of sibling caregiving were negatively correlated with parent caregiving abilities. CONCLUSIONS : The results identify the correlates of current caregiving among siblings of individuals with IDD. More research is needed to understand current sibling caregiving.

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12. Morgan M, Hills PJ. Correlations between holistic processing, Autism quotient, extraversion, and experience and the own-gender bias in face recognition. PLoS One. 2019 ; 14(7) : e0209530.

The variability in the own-gender bias (OGB) in face-recognition is thought to be based on experience and the engagement of expert face processing mechanisms for own-gender faces. Experience is also associated with personality characteristics such as extraversion and Autism, yet the effects of these variables on the own-gender bias has not been explored. We ran a face recognition study exploring the relationships between own-gender experience, holistic processing (measured using the face-inversion effect, composite face effect, and the parts-and-wholes test), personality characteristics (extraversion and Autism Quotient) and the OGB. Findings did not support a mediational account where experience increases holistic processing and this increases the OGB. Rather, there was a direct relationship between extraversion and Autism Quotient and the OGB. We interpret this as personality characteristics having an effect on the motivation to process own-gender faces more deeply than opposite-gender faces.

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13. Ning Z, Williams JM, Kumari R, Baranov PV, Moore T. Opposite Expression Patterns of Spry3 and p75NTR in Cerebellar Vermis Suggest a Male-Specific Mechanism of Autism Pathogenesis. Frontiers in psychiatry. 2019 ; 10 : 416.

Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebellar abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene SPRY3, which is adjacent to X chromosome-linked TMLHE, a known autism susceptibility gene. SPRY3 is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse Spry3 is not expressed in cerebellar vermis lobules VI-VII and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of p75NTR, which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate SPRY3 expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of SPRY3, which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 approximately 60 kb from SPRY3 acts as a silencer of Y-linked SPRY3 expression. Deletion of a beta-satellite repeat, or alterations in chromatin structure in this region due to trans-acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked SPRY3. This proposed male-specific mechanism could contribute to the male bias in autism prevalence.

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14. Perfilyeva AV, Bespalova KB, Skvortsova LA, Surdeanu A, Garshin AA, Perfilyeva YV, Khamdiyeva OK, Bekmanov BO, Djansugurova LB. No Association between the rs1799836 Polymorphism of the Monoamine Oxidase B Gene and the Risk of Autism Spectrum Disorders in the Kazakhstani Population. Disease markers. 2019 ; 2019 : 2846394.

Autism spectrum disorders (ASDs) are heterogeneous diseases that are triggered by a number of environmental and genetic factors. The aim of the current study was to investigate an association of the rs1799836 genetic variant of the neurotransmitter-related gene MAOB with ASDs. In total, 262 patients diagnosed with ASDs and their 126 healthy siblings were included in the present study. All individuals represented a Kazakhstani population. The distributions of the rs1799836 genotype were in accordance with the Hardy-Weinberg equilibrium among both cases and controls. No statistically significant differences were found in the allelic distributions of this polymorphism between ASD and control subjects (A/G : for males OR = 1.11, 95% 0.59-2.06, p = 0.75 ; for females OR = 1.14, 95% 0.70-1.86, p = 0.76). However, the increased score in the overall CARS was significantly associated with the A allele of rs1799836 MAOB for females (OR = 2.31, 95% 1.06-5.04, p = 0.03). The obtained results suggest that the rs1799836 polymorphism of the MAOB gene may have little contribution to the development of ASDs but may be involved in pathways contributing to ASD symptom severity in females. Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.

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15. Prata J, Machado AS, von Doellinger O, Almeida MI, Barbosa MA, Coelho R, Santos SG. The Contribution of Inflammation to Autism Spectrum Disorders : Recent Clinical Evidence. Methods in molecular biology (Clifton, NJ). 2019 ; 2011 : 493-510.

Autism comprises a complex and heterogeneous spectrum of neurodevelopmental disorders, usually termed autism spectrum disorders (ASD). It is more prevalent in males than females, and genetic and environmental factors are believed to account in similar percentages to the development of ASD. In recent years, the contribution of inflammation and inflammatory mediators to disease aetiology and perpetuation has been the object of intense research. In this chapter, inflammatory aspects that contribute to ASD are discussed, including abnormal microglia activation and polarization phenotypes, increased systemic levels of pro-inflammatory mediators, and altered patterns of immune cell response to activation stimuli. Also, inflammation in the context of gut microbiome and the impact of inflammation on gender prevalence of ASD are considered. Finally, treatment impact on inflammatory parameters and the potential for use of anti-inflammatory drugs, alone or in combination with antipsychotics, to manage ASD are examined.

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16. Roestorf A, Bowler DM, Deserno MK, Howlin P, Klinger L, McConachie H, Parr JR, Powell P, Van Heijst BFC, Geurts HM. "Older Adults with ASD : The Consequences of Aging." Insights from a series of special interest group meetings held at the International Society for Autism Research 2016-2017. Res Autism Spectr Disord. 2019 ; 63 : 3-12.

A special interest group (SIG) entitled "Older Adults with ASD : The Consequences of Aging" was held at the International Society for Autism Research (INSAR) annual meetings in 2016 and 2017. The SIG and subsequent meetings brought together, for the first time, international delegates who were members of the autistic community, researchers, practitioners and service providers. Based on aging autism research that is already underway in UK, Europe, Australia and North America, discussions focussed on conceptualising the parameters of aging when referring to autism, and the measures that are appropriate to use with older adults when considering diagnostic assessment, cognitive factors and quality of life in older age. Thus, the aim of this SIG was to progress the research agenda on current and future directions for autism research in the context of aging. A global issue on how to define ’aging’ when referring to ASD was at the forefront of discussions. The ’aging’ concept can in principle refer to all developmental transitions. However, in this paper we focus on the cognitive and physical changes that take place from mid-life onwards. Accordingly, it was agreed that aging and ASD research should focus on adults over the age of 50 years, given the high rates of co-occurring physical and mental health concerns and increased risk of premature death in some individuals. Moreover, very little is known about the cognitive change, care needs and outcomes of autistic adults beyond this age. Discussions on the topics of diagnostic and cognitive assessments, and of quality of life and well-being were explored through shared knowledge about which measures are currently being used and which background questions should be asked to obtain comprehensive and informative developmental and medical histories. Accordingly, a survey was completed by SIG delegates who were representatives of international research groups across four continents, and who are currently conducting studies with older autistic adults. Considerable overlap was identified across different research groups in measures of both autism and quality of life, which pointed to combining data and shared learnings as the logical next step. Regarding the background questions that were asked, the different research groups covered similar topics but the groups differed in the way these questions were formulated when working with autistic adults across a range of cognitive abilities. It became clear that continued input from individuals on the autism spectrum is important to ensure that questionnaires used in ongoing and future are accessible and understandable for people across the whole autistic spectrum, including those with limited verbal abilities.

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17. Sadria M, Karimi S, Layton AT. Network centrality analysis of eye-gaze data in autism spectrum disorder. Computers in biology and medicine. 2019 ; 111 : 103332.

Individuals suffering from autism spectrum disorder (ASD) exhibit impaired social communication, the manifestations of which include abnormal eye contact and gaze. In this study, we first seek to characterize the spatial and temporal attributes of this atypical eye gaze. To achieve that goal, we analyze and compare eye-tracking data of ASD and typical development (TD) children. A fixation time analysis indicates that ASD children exhibit a distinct gaze pattern when looking at faces, spending significantly more time at the mouth and less at the eyes, compared with TD children. Another goal of this study is to identify an analytic approach that can better reveal differences between the face scanning patterns of ASD and TD children. Face scanning involves transitioning from one area of interest (AOI) to another and is not taken into account by the traditional fixation time analysis. Instead, we apply four network analysis approaches that measure the "importance" of a given AOI : degree centrality, betweenness centrality, closeness centrality, and eigenvector centrality. Degree centrality and eignevector centrality yield statistically significant difference in the mouth and right eye, respectively, between the ASD and TD groups, whereas betweenness centrality reveals statistically significant between-group differences in four AOIs. Closeness centrality yields statistically meaningful differences in three AOIs, but those differences are negligible. Thus, our results suggest that betweenness centrality is the most effective network analysis approach in distinguishing the eye gaze patterns between ASD and TD children.

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18. Schuwerk T, Kaltefleiter LJ, Au JQ, Hoesl A, Stachl C. Enter the Wild : Autistic Traits and Their Relationship to Mentalizing and Social Interaction in Everyday Life. J Autism Dev Disord. 2019.

Theories derived from lab-based research emphasize the importance of mentalizing for social interaction and propose a link between mentalizing, autistic traits, and social behavior. We tested these assumptions in everyday life. Via smartphone-based experience sampling and logging of smartphone usage behavior we quantified mentalizing and social interaction in our participants’ natural environment. Mentalizing occurred less frequently than reasoning about actions and participants preferred to mentalize when alone. Autistic traits were negatively correlated with communication via smartphone. Yet, they were not associated with social media usage, a more indirect way of getting in touch with others. Our findings critically inform recent theories on social cognition, social behavior, and the role of autistic traits in these phenomena.

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19. Stroth S, Paye L, Kamp-Becker I, Wermter AK, Krach S, Paulus FM, Muller-Pinzler L. Empathy in Females With Autism Spectrum Disorder. Frontiers in psychiatry. 2019 ; 10 : 428.

Objective : Despite the fact that autism spectrum disorder (ASD) is a common psychiatric diagnosis, knowledge about the special behavioral and neurobiological female phenotype is still scarce. The present study aimed to investigate neural correlates of empathy for physical and social pain and to assess the impact of egocentric perspective taking on social pain empathy in complex social situations in women and girls with ASD. Methods : Nine female individuals with high functioning ASD were compared to nine matched peers without ASD during two functional magnetic resonance imaging (fMRI) experiments, examining empathy for physical and social pain using well-established paradigms. Participants viewed multiple pictorial stimuli depicting a social target in either physically painful or socially unpleasant situations. In the social situations, the participant either shared the social target’s knowledge about the inappropriateness of the situation (observed social target is aware about the embarrassment of the situation ; e.g., tripping in public) or not (observed social target is unaware about the embarrassment of the situation ; e.g., open zipper). Results : Females with ASD did not rate the physical pain stimuli differently from non-clinical controls. Social pain situations, however, posed a greater challenge to females with ASD : For non-shared knowledge situations, females with ASD rated the social target’s embarrassment as more intense. Thus, compared to non-clinical controls, females with ASD had a stronger egocentric perspective of the situation rather than sharing the social target’s perspective. On the neural systems level, both groups showed activation of areas of the so-called empathy network that was attenuated in females with ASD during empathy for physical and social pain with a particular reduction in insula activation. Conclusion : Females with high functioning ASD are able to share another person’s physical or social pain on the neural systems level. However, hypoactivation of the anterior insula in contrast to individuals without ASD suggests that they are less able to rely on their shared representations of emotions along with difficulties to take over a person’s perspective and to make a clear distinction between their own and someone else’s experience of embarrassment.

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20. Ziats CA, Rennert OM, Ziats MN. Toward a Pathway-Driven Clinical-Molecular Framework for Classifying Autism Spectrum Disorders. Pediatric neurology. 2019.

BACKGROUND : The current classification system of neurodevelopmental disorders is based on clinical criteria ; however, this method alone fails to incorporate what is now known about genomic similarities and differences between closely related clinical neurodevelopmental disorders. Here we present an alternative clinical molecular classification system of neurodevelopmental disorders based on shared molecular and cellular pathways, using syndromes with autistic features as examples. METHODS : Using the Online Mendelian Inheritance in Man database, we identified 83 syndromes that had "autism" as a feature of disease, which in combination were associated with 69 autism disease-causing genes. Using annotation terms generated from the DAVID annotation tool, we grouped each gene and its associated autism syndrome into three biological pathways : ion transport, cellular synaptic function, and transcriptional regulation. RESULTS : The majority of the autism syndromes we analyzed (54 of 83) enriched for processes related to transcriptional regulation and were associated with more non-neurologic symptoms and co-morbid psychiatric disease when compared with the other two pathways studied. Disorders with disrupted cellular synaptic function had significantly more motor-related symptoms when compared with the other groups of disorders. CONCLUSION : Our pathway-based classification system identified unique clinical characteristics within each group that may help guide clinical diagnosis, prognosis, and treatment. These results suggest that shifting current clinical classification of autism disorders toward molecularly driven, pathway-related diagnostic groups such as this may more precisely guide clinical decision making and may be informative for future clinical trial and drug development approaches.

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