Pubmed du 06/02/20

jeudi 6 février 2020

1. Avila-Alvarez A, Alonso-Bidegain M, De-Rosende-Celeiro I, Vizcaino-Cela M, Larraneta-Alcalde L, Torres-Tobio G. Improving social participation of children with autism spectrum disorder : Pilot testing of an early animal-assisted intervention in Spain. Health & social care in the community. 2020.

Children with autism spectrum disorder (ASD) experience moderate to profound challenges in relation to the skills required for social participation. Animal-assisted intervention (AAI) is increasingly used within early community care. However, the results of its early application in this population group are not known. This pilot study aimed to explore the feasibility of an early intervention based on the use of therapy dogs and to examine their impact on communication and social interaction skills. A within-subject quasi-experimental longitudinal design was used. The instruments for measuring results were the Assessment of Communication and Interaction Skills (ACIS) and Animal-assisted Therapy Flow Sheet, both based on observation. A total of 19 children with confirmed or probable ASD (with mean age of 46.2 months), cared for in a Spanish therapeutic unit, participated in a median of nine AAI sessions, with a mean duration of 19.9 min per session. The total ACIS score increased significantly between the initial and final assessments of the study, with communication and social interaction skills improving with a large effect size. In the Animal-assisted Therapy Flow Sheet instrument, statistically significant improvements were found in most of the items that evaluate the frequency of child-dog social relationships (look at the dog, touch it, talk to it and get involved in an activity with the animal) and child-therapist relationships (look at the therapist and talk to him/her) ; the effect sizes ranged from medium to large. In conclusion, the early application of an AAI is feasible and seems to improve communication and social interaction skills, both essential elements for social participation. The results suggest that this intervention may be a beneficial non-pharmacological therapy as a complementary approach within community care for children with ASD in the early years of their life.

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2. Baadel S, Thabtah F, Lu J. A clustering approach for autistic trait classification. Informatics for health & social care. 2020 : 1-18.

Machine learning (ML) techniques can be utilized by physicians, clinicians, as well as other users, to discover Autism Spectrum Disorder (ASD) symptoms based on historical cases and controls to enhance autism screening efficiency and accuracy. The aim of this study is to improve the performance of detecting ASD traits by reducing data dimensionality and eliminating redundancy in the autism dataset. To achieve this, a new semi-supervised ML framework approach called Clustering-based Autistic Trait Classification (CATC) is proposed that uses a clustering technique and that validates classifiers using classification techniques. The proposed method identifies potential autism cases based on their similarity traits as opposed to a scoring function used by many ASD screening tools. Empirical results on different datasets involving children, adolescents, and adults were verified and compared to other common machine learning classification techniques. The results showed that CATC offers classifiers with higher predictive accuracy, sensitivity, and specificity rates than those of other intelligent classification approaches such as Artificial Neural Network (ANN), Random Forest, Random Trees, and Rule Induction. These classifiers are useful as they are exploited by diagnosticians and other stakeholders involved in ASD screening.

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3. Barton-Hulsey A, Sterling A. Grammatical judgment and production in male participants with idiopathic autism spectrum disorder. Clinical linguistics & phonetics. 2020 : 1-24.

This study examined grammatical judgment and production in 22 male participants with idiopathic autism spectrum disorder (ASD) who had a range of nonverbal IQ from 44 to 111 (mean = 72.23) and were between 9.42 and 16.75 years of age (mean = 13.45). Relationships between grammatical judgment and production and nonverbal IQ were examined.Participants completed the Test of Early Grammatical Impairment (TEGI) to describe relative strengths and weaknesses in their ability to judge and produce grammatical tense. Participants also completed the Leiter-R to assess the relationship between nonverbal IQ and grammatical judgment and production. Relative strengths were found across participants in judging correct use of subject-verb agreement in sentences, and correctly producing verbs that linked sentences (e.g., auxiliaries and copulas of be "Is she resting ?"). Participants had the greatest difficulty judging the correctness of a sentence using a dropped verb tense marker (e.g., "He look happy now") and producing irregular verb tense markers. Nonverbal IQ did not contribute to the variance in performance on any tasks of grammaticality judgment or production. Grammatical markers that mark tense in past tense verbs as well as the production of auxiliary do may be an important focus of language intervention for boys with ASD.

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4. Barzy M, Filik R, Williams D, Ferguson HJ. Emotional Processing of Ironic Versus Literal Criticism in Autistic and Nonautistic Adults : Evidence From Eye-Tracking. Autism Res. 2020.

Typically developing adults are able to keep track of story characters’ emotional states online while reading. Filik et al. showed that initially, participants expected the victim to be more hurt by ironic comments than literal, but later considered them less hurtful ; ironic comments were regarded as more amusing. We examined these processes in autistic adults, since previous research has demonstrated socio-emotional difficulties among autistic people, which may lead to problems processing irony and its related emotional processes despite an intact ability to integrate language in context. We recorded eye movements from autistic and nonautistic adults while they read narratives in which a character (the victim) was either criticized in an ironic or a literal manner by another character (the protagonist). A target sentence then either described the victim as feeling hurt/amused by the comment, or the protagonist as having intended to hurt/amused the victim by making the comment. Results from the nonautistic adults broadly replicated the key findings from Filik et al., supporting the two-stage account. Importantly, the autistic adults did not show comparable two-stage processing of ironic language ; they did not differentiate between the emotional responses for victims or protagonists following ironic versus literal criticism. These findings suggest that autistic people experience a specific difficulty taking into account other peoples’ communicative intentions (i.e., infer their mental state) to appropriately anticipate emotional responses to an ironic comment. We discuss how these difficulties might link to atypical socio-emotional processing in autism, and the ability to maintain successful real-life social interactions. LAY SUMMARY : In line with research showing that autistic people have difficulties considering others’ mental states, we found autistic adults were impaired at distinguishing the emotions and intentions experienced by story characters who received sarcastic comments (e.g., "That was fantastic parking" in a context where someone’s parking was particularly bad). These findings highlight the difficulties that autistic people experience taking into account other peoples’ intentions during communication to appropriately anticipate their emotional responses. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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5. Benitez-Burraco A. Genes Positively Selected in Domesticated Mammals Are Significantly Dysregulated in the Blood of Individuals with Autism Spectrum Disorders. Molecular syndromology. 2020 ; 10(6) : 306-12.

Human self-domestication (i.e., the presence of traits in our species that are commonly found in domesticated animals) has been hypothesized to have contributed to the emergence of many human-specific features, including aspects of our cognition and behavior. Signs of self-domestication have been claimed to be attenuated in individuals with autism spectrum disorders (ASD), this conceivably accounting for facets of their distinctive cognitive and behavioral profile, although this possibility needs to be properly tested. In this study, we have found that candidate genes for mammal domestication, but not for neural crest development and function, are significantly dysregulated in the blood of subjects with ASD. The set of differentially expressed genes (DEGs) is enriched in biological and molecular processes, as well as in pathological phenotypes, of relevance for the etiology of ASD, like lipid metabolism, cell apoptosis, the activity of the insulin-like growth factor, gene expression regulation, skin/hair anomalies, musculoskeletal abnormalities, and hearing impairment. Moreover, among the DEGs, there are known candidates for ASD and/or genes involved in biological processes known to be affected in ASD. Our findings give support to the view that one important aspect of the etiopathogenesis of ASD is the abnormal manifestation of features of human self-domestication.

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6. Chen KL, Chen CT, Lin CH, Huang CY, Lee YC. Prediction Of Playfulness By Pretend Play, Severity Of Autism Behaviors, And Verbal Comprehension In Children With Autism Spectrum Disorder. Neuropsychiatr Dis Treat. 2019 ; 15 : 3177-86.

Background : Children with autism spectrum disorder (ASD) often exhibit deficits in pretend play and have less playfulness. The purpose of this study was to evaluate the relationship between pretend play and playfulness in children with autism spectrum disorder, while controlling for severity of autism behaviors, verbal comprehension, and age. Methods : A sample of 72 children with ASD aged between 3 and 12 years were assessed with the Child-Initiated Pretend Play Assessment, Test of Playfulness, and Childhood Autism Rating Scale, respectively, for their pretend play, playfulness, and severity of autism behaviors. Correlation and multiple regression analyses were conducted. Results : The results of Pearson correlation coefficients revealed that the pretend play variables had mild to moderate associations with the playfulness variables (r = -0.25 to 0.68). The multiple regression analyses showed that, overall, the internal locus of control was the significant predictor of the pretend play variables (accounting for 5-47% of the variance, p < 0.001). The six pretend play variables were all important predictors of all playfulness variables (explaining 41-76% of the variance, p < 0.001-0.047). Particularly, the elaborate pretend play action was a significant predictor of all four playfulness variables. Our findings indicated that the more children with ASD engaged in pretend play, the more they experienced playfulness. Conclusion : Clinicians could help children with ASD improve their feeling of being in charge of their play in order to develop better performance in pretend play. Assisting children with ASD to engage in pretend play is important to promote their internal experience of playfulness.

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7. Gasparini S, Del Vecchio G, Gioiosa S, Flati T, Castrignano T, Legnini I, Licursi V, Ricceri L, Scattoni ML, Rinaldi A, Presutti C, Mannironi C. Differential Expression of Hippocampal Circular RNAs in the BTBR Mouse Model for Autism Spectrum Disorder. Mol Neurobiol. 2020.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with unknown etiology. Recent experimental evidences suggest the contribution of non-coding RNAs (ncRNAs) in the pathophysiology of ASD. In this work, we aimed to investigate the expression profile of the ncRNA class of circular RNAs (circRNAs) in the hippocampus of the BTBR T + tf/J (BTBR) mouse model and age-matched C57BL/6J (B6) mice. Alongside, we analyzed BTBR hippocampal gene expression profile to evaluate possible correlations between the differential abundance of circular and linear gene products. From RNA sequencing data, we identified circRNAs highly modulated in BTBR mice. Thirteen circRNAs and their corresponding linear isoforms were validated by RT-qPCR analysis. The BTBR-regulated circCdh9 was better characterized in terms of molecular structure and expression, highlighting altered levels not only in the hippocampus, but also in the cerebellum, prefrontal cortex, and amygdala. Finally, gene expression analysis of the BTBR hippocampus pinpointed altered biological and molecular pathways relevant for the ASD phenotype. By comparison of circRNA and gene expression profiles, we identified 6 genes significantly regulated at either circRNA or mRNA gene products, suggesting low overall correlation between circRNA and host gene expression. In conclusion, our results indicate a consistent deregulation of circRNA expression in the hippocampus of BTBR mice. ASD-related circRNAs should be considered in functional studies to identify their contribution to the etiology of the disorder. In addition, as abundant and highly stable molecules, circRNAs represent interesting potential biomarkers for autism.

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8. Georgescu AL, Koeroglu S, Hamilton AFC, Vogeley K, Falter-Wagner CM, Tschacher W. Reduced nonverbal interpersonal synchrony in autism spectrum disorder independent of partner diagnosis : a motion energy study. Mol Autism. 2020 ; 11(1) : 11.

BACKGROUND : One of the main diagnostic features of individuals with autism spectrum disorders is nonverbal behaviour difficulties during naturalistic social interactions. The ’Interactional Heterogeneity Hypothesis’ of ASD proposes that the degree to which individuals share a common ground substantially influences their ability to achieve smooth social interactions. METHODS : To test this hypothesis, we filmed 29 autistic and 29 matched typically developed adults engaged in several conversational tasks. Windowed cross-lagged correlations were computed using the time series of motion energy of both individuals in a dyad. These coefficients were then compared across the three dyad types that were homo- or heterogenous with respect to diagnosis : pairs of two autistic individuals, two typically developed individuals or pairs of one autistic and one typically developed person. RESULTS : We found that all dyad types achieved above-chance interpersonal synchrony, but that synchrony was more expressed in typical dyads compared to both autistic and mixed dyads. LIMITATIONS : The method presented here provides only one, albeit objective and robust, approach to explore synchrony. The methodological choices as well as the lack of consideration for other communication modalities may limit our interpretation of the findings. Moreover, the sample size is small with respect to exploring associations between synchrony and various outcome and social skill measures. CONCLUSIONS : The present results do not provide support for the Interactional Heterogeneity Hypothesis given that autistic individuals do not coordinate better when interacting with another autistic individual, compared to when interacting with a typical individual.

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9. Gilson CB, Gushanas CM, Li YF, Foster K. Defining Inclusion : Faculty and Student Attitudes Regarding Postsecondary Education for Students With Intellectual and Developmental Disabilities. Intellectual and developmental disabilities. 2020 ; 58(1) : 65-81.

Inclusion across education contexts is critical to acknowledge and inspire the full potential of people with intellectual and developmental disabilities (IDD). In the early stages of a postsecondary education program’s development, peers and faculty are integral stakeholders to promoting an inclusive campus life. We conducted a campus-wide survey at a large public university to evaluate the perspectives of 1,867 faculty and students regarding their views of inclusion in student life and their attitudes toward prospective students with IDD. We incorporated a mixed-methods approach to summarize these views by using correlations, linear regression, and qualitative analysis of open-ended responses. We offer recommendations for research and practice aimed at increasing inclusive opportunities for students with IDD and their peers on college campuses.

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10. Gomathi M, Padmapriya S, Balachandar V. Drug Studies on Rett Syndrome : From Bench to Bedside. J Autism Dev Disord. 2020.

Drug studies on Rett syndrome (RTT) have drastically increased over the past few decades. This review aims to provide master data on bench-to-bedside drug studies involving RTT. A comprehensive literature review was performed by searching in PUBMED, MEDLINE and Google Scholar, international, national and regional clinical trial registries and pharmaceutical companies using the keywords "Rett syndrome treatment and/or drug or compound or molecule". Seventy drugs were investigated in non-clinical (N = 65 animal/cell line-based studies ; N = 5 iPSC-based study) and clinical trials (N = 34) for ameliorating the symptoms of RTT. Though there is good progress in both clinical and non-clinical studies, none of these drugs entered phase III/IV for being launched as a therapeutic agent for RTT.

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11. Hu S, Meyer B, Lai BWP, Chay PL, Tong HJ. Parental acceptance of silver diamine fluoride in children with autism spectrum disorder. Int J Paediatr Dent. 2020.

BACKGROUND : Parents of children with autism spectrum disorder (ASD) may have concerns with fluoride/silver content in silver diamine fluoride (SDF). AIM : To compare parental acceptance of SDF and dental fear between children with and without ASD. DESIGN : Three hundred parents were enrolled. Demographics, dental history, and dental fear were recorded. Subjects viewed an educational video and completed survey about SDF acceptance including : a) overall acceptance, b) aesthetic concerns by tooth location, c) fluoride/silver concerns, and d) its use as a general anaesthesia (GA) alternative. Descriptive, bivariate, and multivariate analyses were used. RESULTS : Significantly more children with ASD had dental fear (ASD : 56% versus Neurotypical : 26%). No differences in acceptance existed between the two groups overall or with respect to aesthetics, fluoride/silver content, or as an alternative to GA. Overall acceptance is >60%. Regardless of group, parents of older children were less likely to accept SDF as an alternative to GA (OR=0.67 [95%CI : 0.50 to 0.90]). CONCLUSION : Parents of children with ASD had similar acceptance of SDF use compared to parents of neurotypical children. Children with ASD had higher levels of dental fear. Parents of younger children are more likely to accept SDF as an alternative to GA in both groups.

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12. Huang M, Liang C, Li S, Zhang J, Guo D, Zhao B, Liu Y, Peng Y, Xu J, Liu W, Guo G, Shi L. Two Autism/Dyslexia Linked Variations of DOCK4 Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development. Frontiers in cellular neuroscience. 2019 ; 13 : 577.

Autism spectrum disorder (ASD) and dyslexia are both neurodevelopmental disorders with high prevalence in children. Both disorders have strong genetic basis, and share similar social communication deficits co-occurring with impairments of reading or language. However, whether these two disorders share common genetic risks remain elusive. DOCK4 (dedicator for cytokinesis 4), a guanine nucleotide exchange factor (GEF) for the small GTPase Rac1, is one of few genes that are associated with both ASD and dyslexia. Dock4 is important for neuronal development and social behaviors. Two DOCK4 variations, Exon27-52 deletion (protein product : Dock4-945VS) and a missense mutation at rs2074130 (protein product : Dock4-R853H), are associated with dyslexia and/or ASD with reading difficulties. The present study explores the molecular and cellular functions of these two DOCK4 variants on neuronal development, by comparing them with the wild-type Dock4 protein. Notably, it is revealed that both mutants of Dock4 showed decreased ability to activate not only Rac1, but also another small GTPase Rap1. Consistently, both mutants were dysfunctional for regulation of cell morphology and cytoskeleton. Using Neuro-2a cells and hippocampus neurons as models, we found that both mutants had compromised function in promoting neurite outgrowth and dendritic spine formation. Electrophysiological recordings further showed that R853H partially lost the ability to promote excitatory synaptic transmission, whereas 945VS totally lost the ability. Together, we identified R853 as a previously uncharacterized site for the regulation of the integrity of Dock4 function, and provides insights in understanding the common molecular pathophysiology of ASD and dyslexia.

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13. Kelleher BL, Hogan AL, Ezell J, Caravella K, Schmidt J, Wang Q, Roberts JE. Anxiety and threat-related attentional biases in adolescents with fragile X syndrome. J Intellect Disabil Res. 2020.

BACKGROUND : Fragile X syndrome (FXS) is a single-gene disorder highly associated with anxiety ; however, measuring anxiety symptoms in FXS and other neurogenetic syndromes is challenged by common limitations in language, self-awareness and cognitive skills required for many traditional assessment tasks. Prior studies have documented group-level differences in threat-related attentional biases, assessed via eye tracking, in FXS and non-FXS groups. The present study built on this work to test whether attentional biases correspond to clinical features of anxiety among adolescents and young adults with FXS. METHODS : Participants included 21 male adolescents with FXS ages 15-20 years who completed an adapted eye-tracking task that measured attentional bias towards fearful faces of varied emotional intensity. RESULTS : Among participants without anxiety disorders, attentional bias towards fear increased across age, similar to non-FXS paediatric anxiety samples. In contrast, participants with anxiety disorders exhibited greater stability in fear-related attentional biases across age. Across analyses, subtle fear stimuli were more sensitive to within-group anxiety variability than full-intensity stimuli. CONCLUSIONS : Our results provide novel evidence that although threat-related attentional biases may correspond with anxiety outcomes in FXS, these associations are complex and vary across developmental and task factors. Future studies are needed to characterise these associations in more robust longitudinal samples, informing whether and how eye-tracking tasks might be optimised to reliably predict and track anxiety in FXS.

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14. Kengne Kamga K, Nguefack S, Minka K, Wonkam Tingang E, Esterhuizen A, Nchangwi Munung S, De Vries J, Wonkam A. Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa). Genes. 2020 ; 11(2).

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS ; among them, 58.70% (n = 27) were females. The mean age was 9.4 (+/-5) years for children and 45.9 (+/-15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

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15. Khrautieo T, Srimaneekarn N, Rirattanapong P, Smutkeeree A. Association of sensory sensitivities and tooth brushing cooperation in autism spectrum disorder. Int J Paediatr Dent. 2020.

BACKGROUND : Sensory over-responsivity (SOR) is common in autistic spectrum disorder (ASD), and it leads to a more intense response to sensory stimuli. AIM : To compare tooth brushing cooperation at home and in a dental office between SOR or sensory not over-responsivity (SNOR) children with ASD. DESIGN : This cross-sectional observational study was conducted with 51 children with ASD aged 4 to 17 years. Caregivers assessed each subject’s sensory response by completing a back-translation questionnaire listing eight sensitivities. Subjects who had three or more of the sensitivities were considered SOR subjects. Tooth brushing cooperation in the dental office were recorded on videos. Statistical analysis used the Spearman correlation coefficient, chi-square test, Fisher’s exact test, and Mann-Whitney U test. RESULTS : SNOR subjects (n=10) had significantly higher scores in tooth brushing cooperation at home and in the dental office than did SOR subjects (n=41) (p < .05). Oral sensitivity was significantly associated with tooth brushing cooperation at home, whereas oral, light, sound, and touch (face) sensitivities were significantly correlated with tooth brushing cooperation in the dental office (p < .05). CONCLUSIONS : SOR subjects showed less tooth brushing cooperation than SNOR subjects both at home and in the dental office.

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16. Kolodny T, Schallmo MP, Gerdts J, Bernier RA, Murray SO. Response dissociation in hierarchical cortical circuits : a unique feature of autism spectrum disorder. J Neurosci. 2020.

A prominent hypothesis regarding the pathophysiology of autism is that an increase in the balance between neural excitation and inhibition results in an increase in neural responses. However, previous reports of population-level response magnitude in individuals with autism have been inconsistent. Critically, network interactions have not been considered in previous neuroimaging studies of E/I in autism. In particular, a defining characteristic of cortical organization is its hierarchical and interactive structure ; sensory and cognitive systems are comprised of networks where later stages inherit and build upon the processing of earlier input stages, and also influence and shape earlier stages by top-down modulation. Here we utilized the well-established connections of the human visual system to examine response magnitudes in a higher-order motion processing region (MT+) and its primary input region (V1). Simple visual stimuli were presented to adult individuals with autism spectrum disorders (ASD ; n = 24, mean age 23 years, 8 females) and neurotypical controls (n = 24, mean age 22, 8 females) during fMRI scanning. We discovered a strong dissociation of fMRI response magnitude between region MT+ and V1 in individuals with ASD : individuals with high MT+ responses had attenuated V1 responses. The magnitude of MT+ amplification and of V1 attenuation was associated with autism severity, appeared to result from amplified suppressive feedback from MT+ to V1, and was not present in neurotypical controls. Our results reveal the potential role of altered hierarchical network interactions in the pathophysiology of ASD.SIGNIFICANCE STATEMENTAn imbalance between neural excitation and inhibition, resulting in increased neural responses, has been suggested as a pathophysiological pathway to autism, but direct evidence from humans is lacking. In the current study we consider the role of interactions between stages of sensory processing when testing increased neural responses in individuals with autism. We utilized the well-known hierarchical structure of the visual motion pathway to demonstrate a dissociation in the fMRI response magnitude between adjacent stages of processing in autism : responses are attenuated in a primary visual area but amplified in a subsequent higher-order area. This response dissociation appears to rely on enhanced suppressive feedback between regions and reveals a previously unknown cortical network alteration in autism.

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17. Larriba-Quest K, Byiers BJ, Beisang A, Merbler AM, Symons FJ. Special Education Supports and Services for Rett Syndrome : Parent Perceptions and Satisfaction. Intellectual and developmental disabilities. 2020 ; 58(1) : 49-64.

There are no published studies describing educational experiences for girls with Rett syndrome. Given the extensive educational needs associated with Rett syndrome, it is important to understand how families perceive their daughters’ educational experiences to inform education service provision. The purpose of this study was to survey parents of school-aged children with Rett syndrome to describe the educational services that they receive and understand parents’ perceptions of and satisfaction with the special educational and related services. The majority of parents were satisfied with their daughters’ educational services. Communication was the most frequently endorsed priority skill area, and many parents expressed frustration with limited access to augmentative and alternative communication (AAC) devices and staff training in their use. These results suggest there is a need for high-quality speech therapy and an emphasis on AAC support.

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18. Lu Z, Liu Z, Mao W, Wang X, Zheng X, Chen S, Cao B, Huang S, Zhang X, Zhou T, Zhang Y, Huang X, Sun Q, Li JD. Locus-specific DNA methylation of Mecp2 promoter leads to autism-like phenotypes in mice. Cell Death Dis. 2020 ; 11(2) : 85.

Autism spectrum disorder (ASD) is a neurodevelopmental disease with a strong heritability, but recent evidence suggests that epigenetic dysregulation may also contribute to the pathogenesis of ASD. Especially, increased methylation at the MECP2 promoter and decreased MECP2 expression were observed in the brains of ASD patients. However, the causative relationship of MECP2 promoter methylation and ASD has not been established. In this study, we achieved locus-specific methylation at the transcription start site (TSS) of Mecp2 in Neuro-2a cells and in mice, using nuclease-deactivated Cas9 (dCas9) fused with DNA methyltransferase catalytic domains, together with five locus-targeting sgRNAs. This locus-specific epigenetic modification led to a reduced Mecp2 expression and a series of behavioral alterations in mice, including reduced social interaction, increased grooming, enhanced anxiety/depression, and poor performance in memory tasks. We further found that specifically increasing the Mecp2 promoter methylation in the hippocampus was sufficient to induce most of the behavioral changes. Our finding therefore demonstrated for the first time the casual relationship between locus-specific DNA methylation and diseases symptoms in vivo, warranting potential therapeutic application of epigenetic editing.

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19. Maxeiner S, Benseler F, Krasteva-Christ G, Brose N, Sudhof TC. Evolution of the Autism-Associated Neuroligin-4 Gene Reveals Broad Erosion of Pseudoautosomal Regions in Rodents. Molecular biology and evolution. 2020.

Variants in genes encoding synaptic adhesion proteins of the neuroligin family, most notably neuroligin-4, are a significant cause of autism spectrum disorders in humans. While human neuroligin-4 is encoded by two genes, NLGN4X and NLGN4Y, that are localized on the X-specific and male-specific regions of the two sex chromosomes, the chromosomal localization and full genomic sequence of the mouse Nlgn4 gene remain elusive. Here, we analyzed the neuroligin-4 genes of numerous rodent species by direct sequencing and bioinformatics, generated complete drafts of multiple rodent neuroligin-4 genes, and examined their evolution. Surprisingly, we find that the murine Nlgn4 gene is localized to the pseudoautosomal region (PAR) of the sex chromosomes, different from its human orthologues. We show that the sequence differences between various neuroligin-4 proteins are restricted to hotspots in which rodent neuroligin-4 proteins contain short repetitive sequence insertions compared to neuroligin-4 proteins from other species, whereas all other protein sequences are highly conserved. Evolutionarily, these sequence insertions initiate in the clade eumuroidea of the infra-order myomorpha, and are additionally associated with dramatic changes in non-coding sequences and gene size. Importantly, these changes are not exclusively restricted to neuroligin-4 genes but reflect major evolutionary changes that substantially altered or even deleted genes from the PARs of both sex chromosomes. Our results show that despite the fact that the PAR in rodents and the neuroligin-4 genes within the rodent PAR underwent massive evolutionary changes, neuroligin-4 proteins maintained a highly conserved core structure, consistent with a substantial evolutionary pressure preserving its physiological function.

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20. Miodrag N, Richards DA, Fedoroff JP, Watson SL. Sex and genes, part 2 : A biopsychosocial approach to assess and treat challenging sexual behavior in persons with intellectual disabilities including fragile X syndrome and 22q11.2 deletion syndrome. Behavioral sciences & the law. 2020.

Individuals with intellectual disabilities (IDs) - and specifically those with genetic disorders - are more prone to medical and psychological challenges that affect their sexual development, experiences, and fertility. In this review paper we first provide an overview of the biopsychosocial (BPS) model and then explain how the model can guide and improve the assessment and treatment of challenging sexual behaviors by persons with IDs. We discuss two genetic conditions - fragile X syndrome and 22q11.2 deletion syndrome - in case studies, showing how the BPS model can be used to assess and treat the sexual problems of individuals with various types of ID. We conclude with BPS-formulated treatment considerations in three key domains : biomedical treatment (e.g., medication side effects ; stopping or changing medications), psychological treatment (e.g., providing psychological therapies), and socio-environmental interventions (e.g., providing socio-sexual education and staff training). Together, these treatment interventions can aid clinicians to prevent and/or treat problematic sexual behaviors of people with IDs.

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21. Pelsoczi P, Kelemen K, Csolle C, Nagy G, Lendvai B, Roman V, Levay G. Disrupted Social Hierarchy in Prenatally Valproate-Exposed Autistic-Like Rats. Frontiers in behavioral neuroscience. 2019 ; 13 : 295.

Autism spectrum disorder (ASD) is characterized by impaired socio-communicational function, repetitive and restricted behaviors. Valproic acid (VPA) was reported to increase the prevalence of ASD in humans as a consequence of its use during pregnancy. VPA treatment also induces autistic-like behaviors in the offspring of rats after prenatal exposure ; hence it is a preclinical disease model with high translational value. In the present study, our aim was to characterize ASD relevant behaviors of socially housed, individually identified male rats in automated home cages. The natural behavior of rats was assessed by monitoring their visits to drinking bottles in an environment without human influence aiming at reducing interventional stress. Although rodents normally tend to explore their new environment, prenatally VPA-treated rats showed a drastic impairment in initial and long-term exploratory behavior throughout their stay in the automated cage. Furthermore, VPA rats displayed psychogenic polydipsia (PPD) as well as altered circadian activity. In the competitive situation of strict water deprivation controls switched to an uneven resource sharing and only a few dominant animals had access to water. In VPA animals similar hierarchy-related changes were completely absent. While the control rats secured their chance to drink with frequent reentering visits, thereby "guarding" the water resource, VPA animals did not switch to uneven sharing and displayed no evidence of guarding behavior.

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22. Phan BN, Bohlen JF, Davis BA, Ye Z, Chen HY, Mayfield B, Sripathy SR, Cerceo Page S, Campbell MN, Smith HL, Gallop D, Kim H, Thaxton CL, Simon JM, Burke EE, Shin JH, Kennedy AJ, Sweatt JD, Philpot BD, Jaffe AE, Maher BJ. A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder. Nat Neurosci. 2020.

Autism spectrum disorder (ASD) is genetically heterogeneous with convergent symptomatology, suggesting common dysregulated pathways. In this study, we analyzed brain transcriptional changes in five mouse models of Pitt-Hopkins syndrome (PTHS), a syndromic form of ASD caused by mutations in the TCF4 gene, but not the TCF7L2 gene. Analyses of differentially expressed genes (DEGs) highlighted oligodendrocyte (OL) dysregulation, which we confirmed in two additional mouse models of syndromic ASD (Pten(m3m4/m3m4) and Mecp2(tm1.1Bird)). The PTHS mouse models showed cell-autonomous reductions in OL numbers and myelination, functionally confirming OL transcriptional signatures. We also integrated PTHS mouse model DEGs with human idiopathic ASD postmortem brain RNA-sequencing data and found significant enrichment of overlapping DEGs and common myelination-associated pathways. Notably, DEGs from syndromic ASD mouse models and reduced deconvoluted OL numbers distinguished human idiopathic ASD cases from controls across three postmortem brain data sets. These results implicate disruptions in OL biology as a cellular mechanism in ASD pathology.

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23. Ping Pang NT, Masiran R, Tan KA, Kassim A. Psychological mindedness as a mediator in the relationship between dysfunctional coping styles and depressive symptoms in caregivers of children with autism spectrum disorder. Perspectives in psychiatric care. 2020.

PURPOSE : Psychological mindedness (PM) can partly explain depressive symptoms in caregivers of autism spectrum disorder (ASD). This cross-sectional study examines PM in mediating the relationship between dysfunctional coping styles and depressive symptoms. DESIGN AND METHODS : One hundred fifty-five adult ASD caregivers completed the Malay version of Brief COPE, the Patient Health Questionnaire-9, and the Balanced Index of PM. FINDINGS : Direct paths between dysfunctional coping style and depressive symptoms, between insight and depressive symptoms, and between dysfunctional coping style and all PM variables (insight and interest) were obtained. Multiple regression analyses revealed that insight, but not interest, significantly mediates the relationship between dysfunctional coping and depressive symptoms. PRACTICAL IMPLICATIONS : PM can be enhanced via psychological interventions.

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24. Ruel A, Chiarella SS, Crivello C, Poulin-Dubois D. Concurrent Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) : Socio-cognitive and Verbal Skills in 18-Month-Old Infants. J Autism Dev Disord. 2020.

The Modified Checklist for Autism in Toddlers (M-CHAT) is a screening questionnaire for Autism Spectrum Disorder (ASD). Previous findings have confirmed the M-CHAT’s sensitivity and specificity across several cultures, yet few studies have considered M-CHAT scores as a distributed trait in a sample of typical infants. The current study examined how the M-CHAT predicts concurrent word learning (experiment 1) as well as socio-emotional understanding (experiment 2) in 18-month-old infants. Results demonstrated that the number of items endorsed on the M-CHAT negatively correlated with the proportion of trials on which infants looked at a toy named by the experimenter as well as performance on the word learning task. In experiment 2, high scores on the M-CHAT correlated with less instrumental helping, less imitation, and a smaller productive vocabulary size.

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25. Saleem TH, Shehata GA, Toghan R, Sakhr HM, Bakri AH, Desoky T, Hamdan FRA, Mohamed NF, Hassan MH. Assessments of Amino Acids, Ammonia and Oxidative Stress Among Cohort of Egyptian Autistic Children : Correlations with Electroencephalogram and Disease Severity. Neuropsychiatr Dis Treat. 2020 ; 16 : 11-24.

Objective : The current study aimed to assess the profiles of plasma amino acids, serum ammonia and oxidative stress status among autistic children in terms of electroencephalogram findings and clinical severity among the cohort of autistic Egyptian children. Patients and methods : The present study included 118 Egyptian children categorized into 54 children with autism who were comparable with 64 healthy controls. Clinical assessments of cases were performed using CARS in addition to EEG records. Plasma amino acids were measured using high-performance liquid chromatography (HPLC), while, serum ammonia and oxidative stress markers were measured using colorimetric methods for all included children. Results : The overall results revealed that 37.04% of cases had abnormal EEG findings. Amino acid profile in autistic children showed statistically significant lower levels of aspartic acid, glycine, beta-alanine, tryptophan, lysine and proline amino acids with significantly higher asparagine amino acid derivative levels among autistic patients versus the control group (p<0.05). There were significantly higher serum ammonia levels with significantly higher total oxidant status (TOS) and oxidative stress index (OSI) values among the included autistic children vs controls (p<0.05). There were significantly negative correlations between CARS with aspartic acid (r=-0.269, P=0.049), arginine (r= - 0.286, p= 0.036), and TAS (r= -0.341, p= 0.012), and significantly positive correlations between CARS with TOS (r=0.360, p= 0.007) and OSI (r= 0.338, p= 0.013). Conclusion : Dysregulated amino acid metabolism, high ammonia and oxidative stress were prevalent among autistic children and should be considered in autism management. Still EEG records were inconclusive among autistic children, although may be helpful in assessment autism severity.

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26. Samadi SA. Parental Beliefs and Feelings about Autism Spectrum Disorder in Iran. Int J Environ Res Public Health. 2020 ; 17(3).

BACKGROUND : This study provides information on beliefs that parents of children with autism hold in Iran. The main focus is on their beliefs about the cause and the way that this condition is explained based on the first signs that made them be concerned for their children. METHOD : To attain the aims of this study, 43 parents of children with ASD (27 mothers and 16 fathers) were recruited and interviewed in two sessions in their home. A mixed method approach was used to understand Iranian parents’ reaction to receive diagnosis for their children. RESULTS : Based on findings for the identification, description, and treatment of ASD in Iran, it is argued that since Iranian parents had their special justification regarding their experience with ASD, early child development and interventions must be understood within cultural context. Culturally informed research on ASD is vital to boost awareness of the importance of understanding parental concerns and their need for educational and psychological services in countries in which autism is less known, undiagnosed, misdiagnosed, or even stigmatized. Understanding the difference in ASD meaning across cultures urges stakeholders such as service providers and policymakers to accept and appreciate cultural and individual diversities in the present century.

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27. Sapey-Triomphe LA, Boets B, Van Eylen L, Noens I, Sunaert S, Steyaert J, Wagemans J. Ventral stream hierarchy underlying perceptual organization in adolescents with autism. Neuroimage Clin. 2020 ; 25 : 102197.

Object recognition relies on a hierarchically organized ventral visual stream, with both bottom-up and top-down processes. Here, we aimed at investigating the neural underpinnings of perceptual organization along the ventral visual stream in Autism Spectrum Disorders (ASD), and at determining whether this would be associated with decreased top-down processing in ASD. Nineteen typically developing (TD) adolescents and sixteen adolescents with ASD participated in an fMRI study where they had to detect visual objects. Five conditions displayed Gabor patterns (defined by texture and/or contour) with increasing levels of perceptual organization. In each condition, both groups showed similar abilities. In line with the expected cortical hierarchy, brain activity patterns revealed a progressive involvement of regions, from low-level occipital regions to higher-level frontal regions, when stimuli became more and more organized. The brain patterns were generally similar in both groups, but the ASD group showed greater activation than TD participants in the middle occipital gyrus and lateral occipital complex when perceiving fully organized everyday objects. Effective connectivity analyses suggested that top-down functional connections between the lower levels of the cortical hierarchy were less influenced by the meaning carried by the stimuli in the ASD group than in the TD group. We hypothesize that adolescents with ASD may have been less influenced by top-down processing when perceiving recognizable objects.

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28. Sherkatghanad Z, Akhondzadeh M, Salari S, Zomorodi-Moghadam M, Abdar M, Acharya UR, Khosrowabadi R, Salari V. Automated Detection of Autism Spectrum Disorder Using a Convolutional Neural Network. Front Neurosci. 2019 ; 13 : 1325.

Background : Convolutional neural networks (CNN) have enabled significant progress in speech recognition, image classification, automotive software engineering, and neuroscience. This impressive progress is largely due to a combination of algorithmic breakthroughs, computation resource improvements, and access to a large amount of data. Method : In this paper, we focus on the automated detection of autism spectrum disorder (ASD) using CNN with a brain imaging dataset. We detected ASD patients using most common resting-state functional magnetic resonance imaging (fMRI) data from a multi-site dataset named the Autism Brain Imaging Exchange (ABIDE). The proposed approach was able to classify ASD and control subjects based on the patterns of functional connectivity. Results : Our experimental outcomes indicate that the proposed model is able to detect ASD correctly with an accuracy of 70.22% using the ABIDE I dataset and the CC400 functional parcellation atlas of the brain. Also, the CNN model developed used fewer parameters than the state-of-art techniques and is hence computationally less intensive. Our developed model is ready to be tested with more data and can be used to prescreen ASD patients.

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29. Smith CA, Parton C, King M, Gallego G. Parents’ experiences of information-seeking and decision-making regarding complementary medicine for children with autism spectrum disorder : a qualitative study. BMC complementary medicine and therapies. 2020 ; 20(1) : 4.

BACKGROUND : Complementary and alternative medicine and therapies (CAM) are widely used by parents of children with autism spectrum disorder (ASD). However, there is a gap in our understanding of how and why parents of children with ASD make decisions about CAM treatment, and how "evidence" influences their decision-making. The aim of this study was to explore views and perspectives on CAM decision-making among parents of children with ASD in Australia. METHODS : Semi-structured interviews were conducted with parents of children with ASD (18 years and under) who were living in Australia. The interviews were digitally recorded, transcribed and then analysed using thematic analysis. RESULTS : Twenty-one parents were interviewed (20 women and one man). The mean age of participants was 43 years, (SD = 5.12 years), the majority of whom were born in Australia (71%), and almost half (43%) had a bachelor degree or higher. Three main themes were identifiedin the thematic analysis. First theme was ’Parents’ experiences of researching CAM treatments, the second theme was, "Navigating CAM information and practices", which comprises of the subthemes : Assessing information on CAM treatments’ What counts as ’evidence’ ? and Assessing the impact of CAM treatments on the child - What counts as effective ?, and the final theme was, "Creating a central and trustworthy source about CAM". Across themes parents’ CAM decision-making was described as pragmatic, influenced by time, cost, and feasibility. Parents also reported that information on CAM was complex and often conflicting, and the creation of a centralised and reliable source of information on CAM was identified as a potential solution to these challenges. CONCLUSION : The development of evidence-based information resources for parents and supporting CAM health literacy may assist with navigating CAM decision-making for children’s with ASD.

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30. Steinman G, Mankuta D. The role of oligopeptides in preventing autism. Med Hypotheses. 2020 ; 138 : 109604.

Previous reports in this series point to insufficient insulin-like growth factor-1 (IGF1) in the newborn as the key to brain dysconnectivity characteristic of autism. Such a deficiency should be detectable in the baby’s blood at or soon after birth. Breast-feeding exclusively for the first year of postpartum life or supplementation with oral agents to raise the serum IGF1 level, such a cyclo-glycylproline, could be helpful for this purpose.

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31. Temur HO, Yurtsever I, Yesil G, Sharifov R, Yilmaz FT, Dundar TT, Alkan A. Correlation Between DTI Findings and Volume of Corpus Callosum in Children with AUTISM. Current medical imaging reviews. 2019 ; 15(9) : 895-9.

BACKGROUND : Autism Spectrum Disorder (ASD) is a complex developmental disorder in which neurological basis is largely unknown. The Corpus Callosum (CC) is the main commissure that connects the cerebral hemispheres. Previous evidence suggests the involvement of the CC in the pathophysiology of autism. AIM : The aim of our study is to assess whether there were any changes in Corpus Callosum (CC) area and volume and to reveal the relationship between Diffusion Tensor Imaging (DTI) features in genu and splenium of corpus callosum in children with ASD. METHODS : Eighteen patient and 15 controls were recruited. The volumetric sagittal TI images were used to provide measurements of midsagittal corpus callosum surface area while FA, MD, RD, and ADC values were extracted from genu and splenium of corpus callosum after which the correlation in the area and volume in ASD children was examined. RESULTS : CC area and volume in children with ASD were decreased than controls. FA values obtained from the genu and splenum of CC were significantly lower and RD values were significantly higher. A positive correlation was observed between the FA of the genu and splenium and area and volume of the CC. There was a negative correlation between ADC, MD and RD of CC and area and volume measurements. CONCLUSION : The conclusions in the interrelations of morphometric and DTI data may demonstrate a likelihood of damages in the axons and cortical neurons. The results showed that there existed microstructural damages from the DTI findings. Furthermore, the decrease in FA could be a representation of the reduction in the myelination in nerve pathways, impaired integrity, reduced axonal density, and organization. Indeed, the changes in volumetric and microstructural of CC could be useful in evaluating underlying pathophysiology in children with autism.

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32. Travers HE, Carlton ME, Carter EW. Social Connections Among Siblings With and Without Intellectual Disability or Autism. Intellectual and developmental disabilities. 2020 ; 58(1) : 19-33.

Although the significance of sibling relationships is widely affirmed, little is known about these relationships in young adulthood. In this study, we examined the experiences and perspectives of 155 siblings (ages 18-30) of individuals with intellectual disability or autism. Our focus was on how young adults spend time with their brother or sister with a disability, the ways in which they view their relationship, and the expectations they hold for the future. We found that most siblings spent time together engaging in a wide range of activities, described their relationships as of high quality, and held varied expectations regarding their brother’s or sister’s future. Several factors were associated with more time spent together and higher quality relationships. We address implications for practice and suggest future directions for research.

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33. Wada M, Ide M, Ikeda H, Sano M, Tanaka A, Suzuki M, Agarie H, Kim S, Tajima S, Nishimaki K, Fukatsu R, Nakajima Y, Miyazaki M. Cutaneous and stick rabbit illusions in individuals with autism spectrum disorder. Sci Rep. 2020 ; 10(1) : 1665.

Prediction is the process by which future events are anticipated based on past events ; in contrast, postdiction is the retrospective interpretation of past events based on latter, more recent events. The prediction and postdiction are suggested to be similar based on theoretical models. Previous studies suggest that prediction is impaired in individuals with autism spectrum disorder (ASD). However, it is unclear whether postdiction is also impaired in individuals with ASD. In this study, we evaluated postdiction in individuals with ASD using the cutaneous and stick rabbit illusion paradigms in which the perceived location of a touch shifts postdictively in response to a subsequent touch stimulus. We observed significant cutaneous and stick rabbit illusion in both typically developing (TD) and ASD groups ; therefore, postdiction was functional in individuals with ASD. Our present results suggest that postdiction involves a different neuronal process than prediction. We also observed that the ASD group exhibited significantly larger individual difference compared with the TD group in the stick rabbit illusion, which is considered to reflect extension of body schema to external objects. We discuss implications of the individual difference among the ASD participants in the context of sports requiring interactions between the body and external objects.

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34. Wuyun G, Wang J, Zhang L, Wang K, Yi L, Wu Y. Actions Speak Louder Than Words : The Role of Action in Self-Referential Advantage in Children With Autism. Autism Res. 2020.

Impaired self-processing in children with autism spectrum disorder (ASD) is believed to be closely associated with social-communicative deficits, a core symptom of ASD. In three experiments, we aimed to investigate (a) whether children with ASD exhibited deficient in self-processing, as reflected by their superior memory for self-related items as compared to other-related items, and (b) the role that action played in promoting self-processing in ASD. In Experiment 1, children with ASD, children with intellectual disability (ID), and typically developing children were asked to memorize items on the cards assigned to them or to the experimenter. The results indicated that the TD and ID groups had a self-referential memory advantage, but the ASD group did not. Experiments 2 and 3 examined whether the deficit in self-processing among children with ASDs was ameliorated when participants performed or observed an action to indicate the ownership of the items. We found that when children with ASD performed self-generated actions or observed virtual actions, they displayed a similar self-referential memory advantage as the other two groups. Our findings reveal that action plays an important role in the self-processing in children with ASD, and thereby contribute to a more comprehensive understanding of self-processing deficits in this population.Autism Res 2020, 00 : 1-11. (c) 2020 International Society for Autism Research,Wiley Periodicals, Inc. LAY SUMMARY : We aimed to study whether children with autism spectrum disorder (ASD) exhibited deficient in self-processing and the role of action in promoting self-processing in ASD. We found that the typically developing and intellectual disability groups had a self-referential memory advantage, but the ASD group did not. However, children with ASD showed a significant self-referential advantage when they performed or observed an action to indicate the ownership of items. These findings highlight the vital role that action plays in cognitively enhancing their self-processing.

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35. Yasumatsu K, Nagao JI, Arita-Morioka KI, Narita Y, Tasaki S, Toyoda K, Ito S, Kido H, Tanaka Y. Bacterial-induced maternal interleukin 17A pathway promotes autistic-like behaviors in mouse offspring. Experimental animals. 2020.

Maternal immune activation (MIA) by an infection is considered to be an important environmental factor of fetal brain development. Recent animal model on MIA induced by polyinosinic:polycytidylic acid, a mimic of viral infection, demonstrates that maternal interleukin 17A (IL-17A) signaling is required for the development of autism spectrum disorder (ASD)-like behaviors of offspring. However, there is little information on bacterial infection. In this study, we aim to elucidate the influence of MIA induced by lipopolysaccharide (LPS) to mimic a bacterial infection on fetal brain development. We demonstrated that LPS-induced MIA promoted ASD-like behaviors in mouse offspring. We further found that LPS exposure induced acute phase immune response : elevation of serum IL-17A levels in MIA mothers, upregulation of Il17a mRNA expression and increase of IL-17A-producing gammadelta T cells in the uterus, and upregulation of Il17ra mRNA expression in the fetal brain. Blocking of IL-17A in LPS-induced MIA ameliorated ASD-like behaviors in offspring. Our data suggest that bacterial-induced maternal IL-17A pathway promotes ASD-like behaviors in offspring.

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