1. Carlile KA, DeBar RM, Reeve SA, Reeve KF, Meyer LS. {{Teaching help-seeking when lost to individuals with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2018.
Deficits in safety skills and communication deficits place individuals with autism spectrum disorder (ASD) at an increased risk of danger. We used a multiple-probe across-participants design to evaluate the effects of video modeling and programming common stimuli to teach low- and high-tech help-seeking responses to children with ASD when lost. Participants acquired answering or making a FaceTime(R) call and exchanging an identification card in contrived and natural settings. Responses generalized to novel community settings and maintained during a one- and two-week follow-up. Social validity measures showed that the procedures and outcomes of the study were acceptable to indirect and direct consumers, and immediate and extended community members. Implications are that children with ASD can effectively be taught both low- and high-tech help-seeking responses when lost.
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2. Fluegge K. {{The interaction of ozone and copy number variation on risk for autism: Does environmental exposure to nitrous oxide explain the interaction?}}. {Autism Res}. 2018.
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3. Gogliotti R, Fisher N, Stansley B, Jones C, Lindsley C, Conn J, Niswender C. {{Total RNA-sequencing of Rett Syndrome Autopsy Samples Identifies the M4 Muscarinic Receptor as a Novel Therapeutic Target}}. {The Journal of pharmacology and experimental therapeutics}. 2018.
Mutations in the Methyl CpG Binding Protein 2 (MECP2) gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with HDAC3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. However, to date, studies in mouse models of RTT have identified a limited number of gene or pathway-level disruptions, and even fewer genes have been identified that could be considered amenable to classical drug discovery approaches. Here, we performed RNA-sequencing (seq) on 9 motor cortex and 6 cerebellar autopsy samples from RTT patients and controls. This approach identified 1,883 significantly affected genes in the motor cortex and 2,110 genes in the cerebellum, with a global trend towards increased expression. Pathway-level analysis identified enrichment in genes associated with MAPK-signaling, long-term potentiation, and axon guidance. A survey of our RNA-seq results also identified a significant decrease in expression of the muscarinic acetylcholine receptor 4 (CHRM4) gene, which encodes a receptor (M4) that is the subject of multiple large drug discovery efforts for schizophrenia and Alzheimer’s disease. We confirmed that CHRM4 expression was decreased in RTT patients, and, excitingly, we demonstrated that M4 potentiation normalizes social and cognitive phenotypes in Mecp2+/- mice. This work provides an experimental paradigm in which translationally relevant targets can be identified using transcriptomics in RTT autopsy samples, back-modeled in Mecp2+/- mice, and assessed for preclinical efficacy using existing pharmacological tool compounds.
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4. Hu CC, Xu X, Xiong GL, Xu Q, Zhou BR, Li CY, Qin Q, Liu CX, Li HP, Sun YJ, Yu X. {{Alterations in plasma cytokine levels in chinese children with autism spectrum disorder}}. {Autism Res}. 2018.
Genetic alterations, together with environmental risk factors during infancy and childhood, contribute significantly to the etiology of autism spectrum disorder (ASD), a heterogeneous neurodevelopmental condition characterized by impairments in social interaction and restricted, repetitive behaviors. Mounting evidence points to a critical contribution of immunological risk factors to the development of ASD. By affecting multiple neurodevelopmental processes, immune system dysfunction could act as a point of convergence between genetics and environmental factors in ASD. Previous studies have shown altered cytokine levels in individuals with ASD, but research in Asian populations are limited. Here, we measured the plasma levels of 11 candidate cytokines in ASD and typically developing (TD) children. The cohort included 41 TD children and 87 children with ASD, aged 1-6 years. We found that as compared to the TD group, children with ASD had higher plasma levels of Eotaxin, TGF-beta1 and TNF-alpha. The increase in TGF-beta1 level was most significant in males, while the increase in Eotaxin was most significant in females. Eotaxin level negatively correlated with the social affect score (SA) in ADOS, while TNF-alpha level positively correlated with total development quotient (DQ), measured using GMDS. These pilot findings suggest potentially important roles of Eotaxin, TGF-beta1 and TNF-alpha in ASD in the Chinese population. Autism Res 2018. (c)2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Alteration of immune system function is an important risk factor for autism spectrum disorder (ASD). Here we found that the levels of cytokines, including Eotaxin, TGF-beta1 and TNF-alpha, are elevated in Chinese children with ASD, as compared to typically developing children. The change in TGF-beta1 level was most prominent in boys, while that of Eotaxin was more significant in girls. These results provide evidence for changes in cytokine profile in Chinese children with ASD.
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5. Li C, Wang L, Block ME, Sum RKW, Wu Y. {{Psychometric Properties of the Physical Educators’ Self-Efficacy Toward Including Students With Disabilities-Autism Among Chinese Preservice Physical Education Teachers}}. {Adapted physical activity quarterly : APAQ}. 2018: 1-16.
Teachers’ self-efficacy is a critical predictor for successful inclusive physical education. However, little is known about preservice physical educators’ self-efficacy toward teaching students with autism spectrum disorders in China. A sound instrument is necessary to measure their self-efficacy level. This validation study examined the psychometric properties of the Chinese version of the Physical Educators’ Self-Efficacy Toward Including Students with Disabilities-Autism. A multisection survey form was administered to preservice physical educators in Mainland China (n = 205) and Hong Kong (n = 227). The results of confirmatory factor analysis confirmed the one-factor model of the scale in the total sample and each of the two samples. Invariance tests across the two samples supported configural and metric invariance but not scalar invariance. The scale scores showed good internal reliability and were correlated with theoretically relevant constructs (i.e., burnout and life satisfaction) in the total sample and subsamples. These findings generally support the utility of the scale for use among Chinese preservice physical educators.
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6. Lin CY, Chang KW, Lin CY, Wu JY, Coon H, Huang PH, Ho HN, Akbarian S, Gau SS, Huang HS. {{Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes}}. {Sci Rep}. 2018; 8(1): 4277.
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder, and the exact causal mechanism is unknown. Dysregulated allele-specific expression (ASE) has been identified in persons with ASD; however, a comprehensive analysis of ASE has not been conducted in a family quartet with ASD. To fill this gap, we analyzed ASE using genomic DNA from parent and offspring and RNA from offspring’s postmortem prefrontal cortex (PFC); one of the two offspring had been diagnosed with ASD. DNA- and RNA-sequencing revealed distinct ASE patterns from the PFC of both offspring. However, only the PFC of the offspring with ASD exhibited a mono-to-biallelic switch for LRP2BP and ZNF407. We also identified a novel site of RNA-editing in KMT2C in addition to new monoallelically-expressed genes and miRNAs. Our results demonstrate the prevalence of ASE in human PFC and ASE abnormalities in the PFC of a person with ASD. Taken together, these findings may provide mechanistic insights into the pathogenesis of ASD.
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7. Mandell D. {{Dying before their time: Addressing premature mortality among autistic people}}. {Autism}. 2018: 1362361318764742.
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8. Mann BW. {{Autism Narratives in Media Coverage of the MMR Vaccine-Autism Controversy under a Crip Futurism Framework}}. {Health Commun}. 2018: 1-7.
While previous studies in health communication have examined online news media regarding autism, there is a lack of research that critically examines how such media representations may stigmatize autism and seeks to eliminate the condition, particularly in the context of the resurging measles, mumps, and rubella (MMR) vaccine-autism controversy. To address this gap in the literature, this study analyzes 153 articles that engage the MMR vaccine-autism controversy from the top 10 online news sources in the U.S. from September 2015 through July 2017. It draws from Kafer’s (2013) work in Feminist, Crip, Queer, using a lens of crip futurism to interpret three major narrative themes: a death and survival narrative that purports autism as a worst-case scenario, a societal problem narrative, and a preventative narrative that seeks to eliminate the condition. These themes suggest that online news media narratives about autism surrounding the autism-MMR controversy play into stereotypes about autism, including stigmatization and prioritization of preventive behaviors and cures over supporting the lived experiences of autistic individuals. Continued research on the impact of online media portrayals of autism specifically, and disability in health contexts generally, is called for.
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9. Muotri AR. {{Autism Spectrum Disorders: Challenges and perspectives}}. {Dev Neurobiol}. 2018.
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10. Rex C, Charlop MH, Spector V. {{Using Video Modeling as an Anti-bullying Intervention for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
In the present study, we used a multiple baseline design across participants to assess the efficacy of a video modeling intervention to teach six children with autism spectrum disorder (ASD) to assertively respond to bullying. During baseline, the children made few appropriate responses upon viewing video clips of bullying scenarios. During the video modeling intervention, participants viewed videos of models assertively responding to three types of bullying: physical, verbal bullying, and social exclusion. Results indicated that all six children learned through video modeling to make appropriate assertive responses to bullying scenarios. Four of the six children demonstrated learning in the in situ bullying probes. The results are discussed in terms of an intervention for victims of bullying with ASD.
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11. Slawinski BL, Talge N, Ingersoll B, Smith A, Glazier A, Kerver J, Paneth N, Racicot K. {{Maternal cytomegalovirus sero-positivity and autism symptoms in children}}. {American journal of reproductive immunology (New York, NY : 1989)}. 2018.
PROBLEM: Autism spectrum disorder (ASD) is one of the most commonly diagnosed neurodevelopmental disorders in the United States. While ASD can be significantly influenced by genetics, prenatal exposure to maternal infections has also been implicated in conferring risk. Despite this, the effects of several important maternal pathogens, such as cytomegalovirus (CMV) and herpes simplex virus 2 (HSV2), remain unknown. METHOD OF STUDY: We tested whether maternal CMV and/or HSV2 sero-positivity was associated with ASD symptoms in children. ELISA was used to assay for CMV IgG and HSV2 IgG in serum from the mothers of 82 children whose ASD symptoms were assessed at 3-6 years of age using the Social Responsiveness Scale version 2 (SRS-2). RESULTS: Associations between maternal viral serostatus and SRS-2 scores were estimated using linear regression with covariate adjustments. The children of mothers sero-positive for CMV, but not for HSV2, had SRS-2 scores 3.6-4.2 points higher, depending on the adjustment model, than sero-negative women, a significant finding, robust to several statistical adjustments. CONCLUSION: Our results suggest that maternal CMV infections may influence ASD symptoms. These findings are being further evaluated in ongoing prospective studies with larger population samples.
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12. Soke GN, Maenner MJ, Christensen D, Kurzius-Spencer M, Schieve LA. {{Prevalence of Co-occurring Medical and Behavioral Conditions/Symptoms Among 4- and 8-Year-Old Children with Autism Spectrum Disorder in Selected Areas of the United States in 2010}}. {J Autism Dev Disord}. 2018.
We compared the prevalence of various medical and behavioral co-occurring conditions/symptoms between 4- and 8-year-olds with autism spectrum disorder (ASD) from five sites in the Autism and Developmental Disabilities Monitoring Network during the 2010 survey year, accounting for sociodemographic differences. Over 95% of children had at least one co-occurring condition/symptom. Overall, the prevalence was higher in 8- than 4-year-olds for 67% of co-occurring conditions/symptoms examined. Further, our data suggested that co-occurring conditions/symptoms increased or decreased the age at which children were first evaluated for ASD. Similarly, among the 8-year-olds, the prevalence of most co-occurring conditions/symptoms was higher in children with a previous ASD diagnosis documented in their records. These findings are informative for understanding and screening co-occurring conditions/symptoms in ASD.
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13. Tsai MN, Wu CL, Tseng LP, An CP, Chen HC. {{Extraversion Is a Mediator of Gelotophobia: A Study of Autism Spectrum Disorder and the Big Five}}. {Front Psychol}. 2018; 9: 150.
Previous research has shown that individuals with autism are frequently mocked in their childhood and are consequently more anxious about being ridiculed. Research has also shown that autistic individuals have a higher level of gelotophobia (fear of being laughed at) compared to typically developed individuals. However, recent studies have also found that gelotophobia is strongly related to personality, which suggests that personality is a factor that helps to create a higher level of gelotophobia in autistic individuals. To investigate whether this is the case, we recruited 279 Taiwanese high school students, 123 with autism spectrum disorder (ASD) and 156 typically developed students as a control group. Self-reporting questionnaires were used to gather data on the Big Five personality traits and on the gelotophobia-related traits of gelotophobia, gelotophilia, and katagelasticism. The results were analyzed and the two groups were compared for differences in gelotophobia and personality. The ASD group was found to have a higher level of gelotophobia than the typically developed group, but lower levels of gelotophilia and katagelasticism. Additionally, the ASD group was found to have lower levels of extraversion and agreeableness than the typically developed group, but no significant difference was found between the two groups in terms of conscientiousness, openness, and emotional stability. We then investigated the possible correlations between gelotophobia-related traits and the Big Five, and consequently the mediation effect of the Big Five on gelotophobia. The results show, firstly, that extraversion rather than ASD is a direct factor in gelotophobia. Secondly, the level of gelotophilia was partly influenced by autism but also to a certain extent by the level of extraversion. Lastly, the results indicate that autism and the level of agreeableness are in conflict when predicting the level of katagelasticism.
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14. Wang L, Li G, Adeli E, Liu M, Wu Z, Meng Y, Lin W, Shen D. {{Anatomy-guided joint tissue segmentation and topological correction for 6-month infant brain MRI with risk of autism}}. {Hum Brain Mapp}. 2018.
Tissue segmentation of infant brain MRIs with risk of autism is critically important for characterizing early brain development and identifying biomarkers. However, it is challenging due to low tissue contrast caused by inherent ongoing myelination and maturation. In particular, at around 6 months of age, the voxel intensities in both gray matter and white matter are within similar ranges, thus leading to the lowest image contrast in the first postnatal year. Previous studies typically employed intensity images and tentatively estimated tissue probabilities to train a sequence of classifiers for tissue segmentation. However, the important prior knowledge of brain anatomy is largely ignored during the segmentation. Consequently, the segmentation accuracy is still limited and topological errors frequently exist, which will significantly degrade the performance of subsequent analyses. Although topological errors could be partially handled by retrospective topological correction methods, their results may still be anatomically incorrect. To address these challenges, in this article, we propose an anatomy-guided joint tissue segmentation and topological correction framework for isointense infant MRI. Particularly, we adopt a signed distance map with respect to the outer cortical surface as anatomical prior knowledge, and incorporate such prior information into the proposed framework to guide segmentation in ambiguous regions. Experimental results on the subjects acquired from National Database for Autism Research demonstrate the effectiveness to topological errors and also some levels of robustness to motion. Comparisons with the state-of-the-art methods further demonstrate the advantages of the proposed method in terms of both segmentation accuracy and topological correctness.
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15. Yang YJD, Allen T, Abdullahi SM, Pelphrey KA, Volkmar FR, Chapman SB. {{Neural mechanisms of behavioral change in young adults with high-functioning autism receiving virtual reality social cognition training: A pilot study}}. {Autism Res}. 2018.
Measuring treatment efficacy in individuals with Autism Spectrum Disorder (ASD) relies primarily on behaviors, with limited evidence as to the neural mechanisms underlying these behavioral gains. This pilot study addresses this void by investigating neural and behavioral changes in a Phase I trial in young adults with high-functioning ASD who received an evidence-based behavioral intervention, Virtual Reality-Social Cognition Training over 5 weeks for a total of 10 hr. The participants were tested pre- and post-training with a validated biological/social versus scrambled/nonsocial motion neuroimaging task, previously shown to activate regions within the social brain networks. Three significant brain-behavior changes were identified. First, the right posterior superior temporal sulcus, a hub for socio-cognitive processing, showed increased brain activation to social versus nonsocial stimuli in individuals with greater gains on a theory-of-mind measure. Second, the left inferior frontal gyrus, a region for socio-emotional processing, tracked individual gains in emotion recognition with decreased activation to social versus nonsocial stimuli. Finally, the left superior parietal lobule, a region for visual attention, showed significantly decreased activation to nonsocial versus social stimuli across all participants, where heightened attention to nonsocial contingencies has been considered a disabling aspect of ASD. This study provides, albeit preliminary, some of the first evidence of the harnessable neuroplasticity in adults with ASD through an age-appropriate intervention in brain regions tightly linked to social abilities. This pilot trial motivates future efforts to develop and test social interventions to improve behaviors and supporting brain networks in adults with ASD. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: This study addresses how the behavioral changes after treatment for ASD reflect underlying brain changes. Before and after receiving VR-SCT, young adults with high-functioning ASD passively viewed biological motion stimuli in a MRI scanner, tapping changes in the social brain network. The results reveal neuroplasticity in this age population, extending the window of opportunity for interventions to impact social competency in adults with ASD.
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16. Yu M, Cao T, Yu D, Huang F. {{Association Study Between Metallothionein-3 Protein Polymorphisms and Autism}}. {Neurotoxicity research}. 2018.
Genetic susceptibility to high mercury body burden has been suggested as an autism risk factor in children. Metallothionein III (MT3) is the brain-specific form of the metallothionein family, which plays a key role in metal metabolism. We therefore looked for genetic variations in the MT3 gene that might increase the predisposition to autism. DNA was extracted from 132 autistic children and 132 age and gender-matched unrelated controls. All the samples were analyzed for nine single nucleotide polymorphisms (SNPs) with minor allele frequency > 10% in the MT3 gene. The mRNA levels of MT3 in white blood cells were evaluated by real-time PCR. We did not detect any association between these MT3 polymorphisms and the mRNA levels of MT3. We did not detect any association between MT3 polymorphisms and autism risk. However, we detected four novel MT3 SNPs that are not in the human SNP database. The clinical importance of these SNPs needs further investigation. Our data suggest that MT3 gene polymorphisms are not associated with autism.
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17. Zwart FS, Vissers C, Maes JHR. {{The Association Between Sequence Learning on the Serial Reaction Time Task and Social Impairments in Autism}}. {J Autism Dev Disord}. 2018.
It is assumed that learning on the Serial Reaction Time (SRT) task is related to learning involved in social skill development affected in autism, but this assumption has hardly been investigated. We have therefore examined associations between SRT task learning and social impairment measured by the Social Responsiveness Scale in 72 autistic and non-autistic adults. Results revealed a positive correlation between deterministic sequence learning, putatively involving explicit learning, and social impairment in autistic adults but not in non-autistic adults. No correlations with probabilistic learning were found. These results suggest that the type of learning that helps autistic adults during a deterministic SRT task hinders them during social development, and call for further investigating the ecological validity of the SRT task.
