Pubmed du 10/09/20

jeudi 10 septembre 2020

1. Alsaedi RH. An Assessment of the Motor Performance Skills of Children with Autism Spectrum Disorder in the Gulf Region. Brain Sci ;2020 (Sep 3) ;10(9)

This study aims to determine the prevalence, severity, and nature of the motor abnormalities seen in children with autism spectrum disorder (ASD) as well as to elucidate the associated developmental profiles. The short-form of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) was used to assess various aspects of the motor performance of 119 children with ASD and 30 typically developing children (age range : 6-12 years) from three Gulf states. The results revealed the high prevalence of motor abnormalities among the ASD group when compared with the normative data derived from the BOT-2 manual as well as with the data concerning the typically developing group. The results also indicated that the motor performance of the children with ASD fell within the below-average range according to the BOT-2 cut-off score. Further, the results suggested that the age variable may influence the overall motor performance of children with ASD, since the children’s motor abnormalities may decrease with maturation. The results concerning the specific motor dysfunction profiles seen in individuals with ASD could help practitioners, parents, and educators to better understand the nature of the motor deficits exhibited by children with ASD, which could assist with the design and implementation of treatment and rehabilitation programs for such children. Overall, motor performance represents an important aspect that should be considered during the clinical evaluation of ASD and that should not be ignored during early interventions.

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2. Chen LW, Wang ST, Wang LW, Kao YC, Chu CL, Wu CC, Chiang CH, Huang CC. Early Neurodevelopmental Trajectories for Autism Spectrum Disorder in Children Born Very Preterm. Pediatrics ;2020 (Sep 8)

BACKGROUND : Children born preterm are at high risk for autism spectrum disorder (ASD). However, there is still a lack of appropriate developmental markers. In this study, we aim to examine whether early mental performance trajectory is related to ASD outcome in the preterm population. METHODS : The population-based cohort included 414 very preterm survivors born between 2008 and 2014. After excluding children with severe neurosensory impairment, 319 children with available records of developmental quotients before age 2 years were enrolled. The trajectory of mental performance evaluated by using the Bayley Scales of Infant Development across 6, 12, and 24 months of age was analyzed with group-based trajectory modeling. At 5 years of age, the ASD diagnosis was established by using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. RESULTS : There were 29 children with ASD and 290 children without ASD. The mental performances from age 6 to 24 months could be classified into 3 trajectory patterns : low declining, high declining, and high stable, which corresponded to ASD prevalence at age 5 years of 35%, 9%, and 3%, respectively. ASD odds was 15 times higher in the low-declining group than in the high-stable group (odds ratio 15 ; 95% confidence interval 3.8-59 ; P < .001). Through the analysis of multinomial logistic regression, we found that male infants with longer exposure to oxygen therapy whose mothers had lower maternal education levels tended to follow the low-declining trajectory. CONCLUSIONS : The early-life mental trajectory patterns, by using the Bayley Scales of Infant Development, may lead to identification of vulnerable children born preterm for early ASD diagnosis and targeted intervention.

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3. Cheroni C, Caporale N, Testa G. Autism spectrum disorder at the crossroad between genes and environment : contributions, convergences, and interactions in ASD developmental pathophysiology. Mol Autism ;2020 (Sep 10) ;11(1):69.

The complex pathophysiology of autism spectrum disorder encompasses interactions between genetic and environmental factors. On the one hand, hundreds of genes, converging at the functional level on selective biological domains such as epigenetic regulation and synaptic function, have been identified to be either causative or risk factors of autism. On the other hand, exposure to chemicals that are widespread in the environment, such as endocrine disruptors, has been associated with adverse effects on human health, including neurodevelopmental disorders. Interestingly, experimental results suggest an overlap in the regulatory pathways perturbed by genetic mutations and environmental factors, depicting convergences and complex interplays between genetic susceptibility and toxic insults. The pervasive nature of chemical exposure poses pivotal challenges for neurotoxicological studies, regulatory agencies, and policy makers. This highlights an emerging need of developing new integrative models, including biomonitoring, epidemiology, experimental, and computational tools, able to capture real-life scenarios encompassing the interaction between chronic exposure to mixture of substances and individuals’ genetic backgrounds. In this review, we address the intertwined roles of genetic lesions and environmental insults. Specifically, we outline the transformative potential of stem cell models, coupled with omics analytical approaches at increasingly single cell resolution, as converging tools to experimentally dissect the pathogenic mechanisms underlying neurodevelopmental disorders, as well as to improve developmental neurotoxicology risk assessment.

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4. Farmani S, Ajami S, Babanouri N. Prevalence of Malocclusion and Occlusal Traits in Children with Autism Spectrum Disorders. Clin Cosmet Investig Dent ;2020 ;12:343-349.

BACKGROUND : The purpose of this cross-sectional study was to evaluate the prevalence of malocclusion in children with autism spectrum disorders (ASDs) and to determine the most common occlusal traits. MATERIALS AND METHODS : The present cross-sectional study was conducted among 7-15 years old children with ASDs and randomly selected healthy children with the same demographic characteristics. Molar relationship, lip incompetence, overbite, overjet, midline deviation, crossbite, and crowding/spacing were recorded. A descriptive analysis was performed for all variables. A comparison of the presence or absence of malocclusion traits between children with and without ASDs was assessed using the chi-square test. Univariate and multivariate logistic regressions were used to calculate odds ratio (OR) and 95% confidence intervals (95% CI) to assay various parameters between autism and non-autism group. RESULTS : A total of 96 patients were assessed, 47 patients in the ASD group, and 49 in the control (non-ASD) group. The results showed no significant difference between the ASD and control groups in terms of the overall prevalence of malocclusion (P>0.05). However, the prevalence of increased overjet and Class II molar relationship was significantly higher in the ASD group compared to the control group (P=0.03). Patients in the control group showed a higher prevalence of midline deviation (P=0.001). CONCLUSION : Despite a higher prevalence of overjet and Class II molar relationship in children with ASDs, the prevalence of malocclusion was not higher in this group of patients.

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5. Forseth B, Papanek PE, Polfuss ML. Feasibility and applicability of Evenson sedentary behavior cut points applied to children with and without intellectual and developmental disabilities. Disabil Rehabil ;2020 (Sep 10):1-6.

AIM : Sedentary behavior (SB) is widely studied as it is associated with cardiometabolic health and obesity issues. However, children with Intellectual and Developmental Disabilities (IDD) have been understudied. Accelerometers are commonly used to measure SB in typically developing populations but may be inappropriate for IDD populations due to differences in body movement and physiologic responses to the activity. The use of Evenson sedentary cut-points, created based on typically developing children, has yet to be applied and/or examined in children with IDD. PURPOSE : A descriptive cross-sectional study was conducted to (1) Assess the feasibility of applying Evenson sedentary cut-points in children with IDD (2) Describe SB over a two-week period between diagnosis groups. METHODS : The SB of 22 participants (8 children with Down syndrome, 6 children with spina bifida, 8 children with no chronic illness) was assessed on two separate occasions : (1) during a 7-minute sedentary protocol, and (2) over a two-week period. RESULTS : The study supports the preliminary efficacy of using Evenson cut-points for this population, with 100% of participants being within the Evenson counts per minute (0-100 cpm) during the 7-minute sedentary protocol. The total volume of SB over a two-week period was not significantly different between diagnosis groups (8.8 h, 8.6 h, and 7.1 h of SB for children with Down syndrome, spina bifida, or those with no chronic illness, respectively ; p = 0.36). CONCLUSIONS : Evenson sedentary cut-points can be used for children with IDD. Preliminary data suggest that children with IDD do not engage in significantly different SB than children without a chronic illness. Further study is warranted. Implications for rehabilitation Objective measures of physical activity and sedentary behavior for children with Down syndrome or spina bifida are rarely used due to potential differences in body movement (e.g., gait) during ambulation compared to typically developing peers that may influence the accuracy of cut-points. This study supports that Evenson sedentary cut-points can be used in children with Down syndrome or spina bifida to assess sedentary activity. Preliminary findings from this study demonstrate similarities in patterns of sedentary behaviors exhibited by our sample of children with Down syndrome, spina bifida, or no chronic illness.

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6. Howes A, Richards G, Galvin J. A Preliminary Investigation Into the Relationship Between Autistic Traits and Self-Compassion. Psychol Rep ;2020 (Sep 9):33294120957244.

Self-compassion refers to the extension of kindness to oneself when faced with feelings of inadequacies, shortcomings or failures. It is possible that individuals high in autistic traits may encounter difficulties with self-compassion, and this could be particularly pronounced due to the social challenges they might face. To explore this potential relationship, we recruited university students and members of the general population to an online survey (n = 176). Participants completed measures on demographics, autistic traits, and self-compassion. We found that autistic traits were indeed negatively correlated with self-compassion in both males and females. Interestingly, a comparison of the slopes showed significantly stronger relationships in males compared to females for the negative (but not the positive) subscales of the self-compassion scale. Although speculative at this point, it is possible that self-compassion acts as a mediator between autistic traits and psychopathology. With this in mind, further work is warranted to determine whether self-compassion could be a target for therapeutic intervention.

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7. Hyman SL, Iadarola S. Simpler Than Possible : Insurance Mandates for Autism Spectrum Disorders. Pediatrics ;2020 (Sep 8)

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8. Jacobs D, Steyaert J, Dierickx K, Hens K. Parents’ multi-layered expectations when requesting an Autism Spectrum Disorder assessment of their young child : an in-depth interview study. BMC Psychiatry ;2020 (Sep 10) ;20(1):440.

BACKGROUND : Parents are valued stakeholders in research, clinical practice and policy development concerning autism spectrum disorder (ASD). However, little is known about what drives and moves parents besides their obvious worries and help request when they ask for a diagnostic ASD assessment of their child. METHODS : Seventeen Flemish parents of 11 young children participated in a longitudinal study consisting of three in-depth interviews before and after their child’s diagnostic ASD assessment. Data were analysed in Nvivo 11 according to the procedures of Interpretative Phenomenological Analysis. RESULTS : In this paper we report the results of the first series of interviews which were conducted after parents had asked for an ASD assessment of their young child, and before this assessment started. The pre-assessment experiences of the parents were dominated by the anticipation of various implications of an ASD diagnosis, comprising both positive and negative expectations. The theme of positive expectations consisted of two equally prominent subthemes : treatment-related implications but also expectations pertaining to their psychological and relational experiences. CONCLUSIONS : This study suggests important issues for clinicians to bear in mind during a consultation with parents who request an ASD assessment of their young child. We argue that attending to and communicating about parents’ expectations prior to their child’s ASD assessment may help clinicians to better understand parents’ requests for help, and to address their needs more effectively.

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9. Kerr-Gaffney J, Mason L, Jones E, Hayward H, Harrison A, Murphy D, Tchanturia K. Autistic Traits Mediate Reductions in Social Attention in Adults with Anorexia Nervosa. J Autism Dev Disord ;2020 (Sep 10)

Anorexia nervosa (AN) is associated with difficulties in social and emotional functioning. A significant proportion of individuals with AN show autistic traits, which may influence social attention. This study examined attention to faces and facial features in AN, recovered AN (REC), and healthy controls, as well as relationships with comorbid psychopathology. One hundred and forty-eight participants’ eye movements were tracked while watching a naturalistic social scene. Anxiety, depression, alexithymia, and autistic traits were assessed via self-report questionnaires. Participants with AN spent significantly less time looking at faces compared to REC and controls ; patterns of attention to individual facial features did not differ across groups. Autistic traits mediated the relationship between group and time spent looking at faces.

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10. Kim B, Lee D, Min A, Paik S, Frey G, Bellini S, Han K, Shih PC. PuzzleWalk : A theory-driven iterative design inquiry of a mobile game for promoting physical activity in adults with autism spectrum disorder. PLoS One ;2020 ;15(9):e0237966.

Primary symptoms of adults with autism spectrum disorder (ASD), such as pervasive social deficits in social interaction and communication, cause adults with ASD to adopt a sedentary lifestyle. Meanwhile, gamified and behavioral theory-based interventions have been shown to improve physical activity in a fun and unobtrusive way. In this paper, we describe the iterative design inquiry process of PuzzleWalk, a gamified, physical activity-promoting mobile app designed for adults with ASD. We report the design rationales and lessons learned across four user-centered design phases with ASD experts and adults with ASD, including user requirement gathering, iterative participatory design, usability evaluation, and field deployment. The design insights generated from this work could inform future research focusing on designing sociotechnical systems, games, and interventions for people with ASD.

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11. Kirkovski M, Fuelscher I, Hyde C, Donaldson PH, Ford TC, Rossell SL, Fitzgerald PB, Enticott PG. Fixel Based Analysis Reveals Atypical White Matter Micro- and Macrostructure in Adults With Autism Spectrum Disorder : An Investigation of the Role of Biological Sex. Front Integr Neurosci ;2020 ;14:40.

Atypical white matter (WM) microstructure is commonly implicated in the neuropathophysiology of autism spectrum disorder (ASD). Fixel based analysis (FBA), at the cutting-edge of diffusion-weighted imaging, can account for crossing WM fibers and can provide indices of both WM micro- and macrostructure. We applied FBA to investigate WM structure between 25 (12 males, 13 females) adults with ASD and 24 (12 males, 12 females) matched controls. As the role of biological sex on the neuropathophysiology of ASD is of increasing interest, this was also explored. There were no significant differences in WM micro- or macrostructure between adults with ASD and matched healthy controls. When data were stratified by sex, females with ASD had reduced fiber density and cross-section (FDC), a combined metric comprised of micro- and macrostructural measures, in the corpus callosum, a finding not detected between the male sub-groups. We conclude that micro- and macrostructural WM aberrations are present in ASD, and may be influenced by biological sex.

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12. Lambrechts A, Cook J, Ludvig EA, Alonso E, Anns S, Taylor M, Gaigg SB. Reward Devaluation in Autistic Children and Adolescents with Complex Needs : A Feasibility Study. Autism Res ;2020 (Sep 10)

Rewards act as a motivator for positive behavior and learning. Although compounding evidence indicates that reward processing operates differently in autistic individuals who do not have co-occurring learning disabilities, little is known about individuals who have such difficulties or other complex needs. This study aimed first to assess the feasibility of using an adapted reward devaluation paradigm to examine basic reward processes in this underrepresented population, and second to investigate whether autistic children and adolescents with complex needs would show dynamic behavioral changes in response to changes in the motivational value of a reward. Twenty-seven autistic children and adolescents with complex needs and 20 typically developing 5-year-old children took part in the study. Participants were presented with two visual cues on a touchscreen laptop, which triggered the delivery of a video, music, or physical reward. One of the rewards was then presented in abundance to decrease its motivational value. Participants showed decreased interest in the video and music rewards after devaluation. The experimental setup was found to be suitable to test individuals with complex needs, although recommendations are made for the use of physical rewards. The results suggest that autistic participants with complex needs demonstrate goal-directed behavior and that it is feasible to develop experimental paradigms that can shed important light on learning processes that are fundamental to many education and intervention strategies for this population. LAY SUMMARY : We adapted an experimental task to conduct research with autistic children and adolescents with complex needs, who remain grossly underrepresented in autism research. We found that once a reward was presented in great quantity, participants were less motivated to obtain it, showing that they adapted their behavior to changes in the value of that reward. This is an important finding to help promote learning and design better interventions for this population.

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13. Lee TM, Lee KM, Lee CY, Lee HC, Tam KW, Loh EW. Effectiveness of N-acetylcysteine in autism spectrum disorders : A meta-analysis of randomized controlled trials. Aust N Z J Psychiatry ;2020 (Sep 8):4867420952540.

OBJECTIVE : Currently, pharmaceutical treatment options for autism spectrum disorder are limited. Brain glutaminergic dysregulation is observed in autism spectrum disorder. N-acetylcysteine, which can be converted to glutathione and subsequently release glutamate into the extracellular space, and thus reduce glutamatergic neurotransmission at synapses, is considered a potential drug for autism spectrum disorder treatment. Here, we analyzed the treatment effects of N-acetylcysteine on autism spectrum disorder in randomized controlled trials. STUDY DESIGN : Updated systematic review and meta-analysis. DATA SOURCES : By systematically searching the PubMed, Embase and Cochrane Library, we obtained five randomized controlled trials. STUDY SELECTION : Meta-analyses were performed to examine the improvement in autistic behaviors as measured by the Aberrant Behavior Checklist, Social Responsiveness Scale and Repetitive Behavior Scale-Revised, using mean difference with a 95% confidence interval and a random-effects model. DATA SYNTHESIS : After 8-12 weeks of N-acetylcysteine supplementation, the pooled result of four trials revealed an improvement in Aberrant Behavior Checklist total score (mean difference = 1.31, 95% confidence interval = [0.42, 2.20]). When one trial was excluded, the sensitivity test result was stronger (mean difference = 1.88, 95% confidence interval = [0.92, 2.83]). The pooled results of three trials revealed significant improvements in hyperactivity (mean difference = 4.80, 95% confidence interval = [1.20, 8.40]) and irritability (mean difference = 4.07, 95% confidence interval = [1.13, 7.04]). Regarding Social Responsiveness Scale, the pooled result of two trials showed significant improvement in social awareness after 8-12 weeks of N-acetylcysteine supplementation (mean difference = 1.34, 95% confidence interval = [0.09, 2.59]). No differences were observed in the pooled results of two trials using Repetitive Behavior Scale, either in the total or the subscales. CONCLUSION : We concluded that N-acetylcysteine is safe and tolerable, reduces hyperactivity and irritability and enhances social awareness in children with autism spectrum disorder. However, further evidence should be sought before a general recommendation.

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14. Malihi M, Nguyen J, Cardy RE, Eldon S, Petta C, Kushki A. Data-Driven Discovery of Predictors of Virtual Reality Safety and Sense of Presence for Children With Autism Spectrum Disorder : A Pilot Study. Front Psychiatry ;2020 ;11:669.

Virtual reality (VR) offers children with autism spectrum disorder (ASD) an inexpensive and motivating medium to learn and practice skills in a personalized, controlled, and safe setting ; however, outcomes of VR interventions can vary widely. In particular, there is a need to understand the predictors of VR experience in children with ASD to inform the design of these interventions. To address this gap, a sample of children with ASD (n=35, mean age : 13.0 ± 2.6 years ; 10 female) participated in a pilot study involving an immersive VR experience delivered through a head-mounted display. A data-driven approach was used to discover predictors of VR safety and sense of presence among a range of demographic and phenotypic user characteristics. Our results suggest that IQ may be a key predictor of VR sense of presence and that anxiety may modify the association between IQ and sense of presence. In particular, in low-anxiety participants, IQ was linearly related to experienced spatial presence and engagement, whereas, in high-anxiety participants, this association followed a quadratic form. The results of this pilot study, when replicated in larger samples, will inform the design of future studies on VR interventions for children with ASD.

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15. Maltman N, DaWalt LS, Hong J, Mailick M. Brief Report : Socioeconomic Factors Associated with Minimally Verbal Status in Individuals with ASD. J Autism Dev Disord ;2020 (Sep 10)

About 30% of adults with autism are minimally verbal. Past research suggested that after age five, few gain verbal fluency, but studies have rarely investigated whether family environmental factors contribute to the acquisition of verbal fluency. The present study utilized data from the Autism Diagnostic Interview-Revised to compare changes in verbal fluency for 404 individuals with autism from childhood to adolescence and adulthood. Socioeconomic factors were examined across fluency groups (i.e., those who did/did not achieve verbal fluency). Findings indicated that fully 60% of those who were minimally verbal in early childhood acquired verbal fluency in adolescence and adulthood. Parent socioeconomic status differed across fluency groups, suggesting the importance of environmental factors for individual development.

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16. McBain RK, Cantor JH, Kofner A, Stein BD, Yu H. State Insurance Mandates and the Workforce for Children With Autism. Pediatrics ;2020 (Sep 8)

BACKGROUND : State mandates have required insurance companies to provide coverage for autism-related child health care services ; however, it has not been determined if insurance mandates have improved the supply of child health care providers. We investigate the effect of state insurance mandates on the supply of child psychiatrists, pediatricians, and board-certified behavioral analysts (BCBAs). METHODS : We used data from the National Conference of State Legislatures and Health Resources and Services Administration’s Area Health Resource Files to examine child psychiatrists, pediatricians, and BCBAs in all 50 states from 2003 to 2017. Fixed-effects regression models compared change in workforce density before versus one year after mandate implementation and the effect of mandate generosity across 44 US states implementing mandates between 2003 and 2017. RESULTS : From 2003 to 2017, child psychiatrists increased from 7.40 to 10.03 per 100 000 children, pediatricians from 62.35 to 68.86, and BCBAs from 1.34 to 29.88. Mandate introduction was associated with an additional increase of 0.77 BCBAs per 100 000 children (95% confidence interval [CI] : 0.18 to 1.42) one year after mandate enactment. Mandate introduction was also associated with a more modest increase among child psychiatrists (95% CI : 0.10 to 0.91) and was not associated with the prevalence of pediatricians (95% CI : -0.76 to 1.13). We also found evidence that more generous mandate benefits were associated with larger effects on workforce supply. CONCLUSIONS : State insurance mandates were associated with an ∼16% increase in BCBAs from 2003 to 2017, but the association with child psychiatrists was smaller and nonsignificant among pediatricians. In these findings, it is suggested that policies are needed that specifically address workforce constraints in the provision of services for children with autism spectrum disorder.

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17. Nguyen Thanh L, Nguyen HP, Ngo MD, Bui VA, Dam PTM, Bui HTP, Ngo DV, Tran KT, Dang TTT, Duong BD, Nguyen PAT, Forsyth N, Heke M. Outcomes of bone marrow mononuclear cell transplantation combined with interventional education for autism spectrum disorder. Stem Cells Transl Med ;2020 (Sep 9)

The aim of this study was to evaluate the safety and efficacy of autologous bone marrow mononuclear cell transplantation combined with educational intervention for children with autism spectrum disorder. An open-label clinical trial was performed from July 2017 to August 2019 at Vinmec International Hospital, Hanoi, Vietnam. Thirty children who fulfilled the autism criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and had Childhood Autism Rating Scale (CARS) scores >37 were selected. Bone marrow was harvested by anterior iliac crest puncture under general anesthesia. The volume collected was as follows : 8 mL/kg for patients under 10 kg (80 mL + [body weight in kg - 10] × 7 mL) for patients above 10 kg. Mononuclear cells were isolated with a Ficoll gradient and then infused intrathecally. The same procedure was repeated 6 months later. After the first transplantation, all patients underwent 8 weeks of educational intervention based on the Early Start Denver Model. There were no severe adverse events associated with transplantation. The severity of autism spectrum disorder (ASD) was significantly reduced, with the median CARS score decreasing from 50 (range 40-55.5) to 46.5 (range 33.5-53.5) (P < .05). Adaptive capacity increased, with the median Vineland Adaptive Behavior Scales score rising from 53.5 to 60.5. Social communication, language, and daily skills improved markedly within 18 months after transplantation. Conversely, repetitive behaviors and hyperactivity decreased remarkably. Autologous bone marrow mononuclear cell transplantation in combination with behavioral intervention was safe and well tolerated in children with ASD (Trial registration : identifier : NCT03225651).

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18. Nicholson T, Williams DM, Lind SE, Grainger C, Carruthers P. Linking metacognition and mindreading : Evidence from autism and dual-task investigations. J Exp Psychol Gen ;2020 (Sep 10)

Questions of how we know our own and other minds, and whether metacognition and mindreading rely on the same processes, are longstanding in psychology and philosophy. In Experiment 1, children/adolescents with autism (who tend to show attenuated mindreading) showed significantly lower accuracy on an explicit metacognition task than neurotypical children/adolescents, but not on an allegedly metacognitive implicit one. In Experiment 2, neurotypical adults completed these tasks in a single-task condition or a dual-task condition that required concurrent completion of a secondary task that tapped mindreading. Metacognitive accuracy was significantly diminished by the dual-mindreading-task on the explicit task but not the implicit task. In Experiment 3, we included additional dual-tasks to rule out the possibility that any secondary task (regardless of whether it required mindreading) would diminish metacognitive accuracy. Finally, in both Experiments 1 and 2, metacognitive accuracy on the explicit task, but not the implicit task, was associated significantly with performance on a measure of mindreading ability. These results suggest that explicit metacognitive tasks (used frequently to measure metacognition in humans) share metarepresentational processing resources with mindreading, whereas implicit tasks (which are claimed by some comparative psychologists to measure metacognition in nonhuman animals) do not. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

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19. Niu Y, Chen X, Li J, Huang S, Xu P, Gao Y. [Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi ;2020 (Sep 10) ;37(9):968-971.

OBJECTIVE : To detect potential variants of MECP2 gene in three pedigrees affected with Rett syndrome (RTT). METHODS : All exons and their flanking regions of the MECP2 gene were subjected to Sanger sequencing and multiplex ligation-dependent probe amplification assay. RESULTS : The probands of pedigrees 1 and 2 have respectively carried a c.965C>G and a c.1157_1197del41 variant of the MECP2 gene, while the proband of pedigree 3 carried a heterozygous deletional variant in exon 4 of the MECP2 gene. CONCLUSION : Variants of the MECP2 gene probably underlay the RTT in the three pedigrees. Above finding has enriched the spectrum of MECP2 gene variants, and provided a guidance for the patients upon preimplantation genetic testing and prenatal diagnosis.

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20. Ogba FN, Onyishi CN, Victor-Aigbodion V, Abada IM, Eze UN, Obiweluozo PE, Ugodulunwa CN, Igu NCN, Okorie CO, Onu JC, Eze A, Ezeani EO, Ebizie EN, Onwu AO. Managing job stress in teachers of children with autism : A rational emotive occupational health coaching control trial. Medicine (Baltimore) ;2020 (Sep 4) ;99(36):e21651.

BACKGROUND/OBJECTIVE : Teaching has been found to be 1 of the most stressful occupations worldwide. Stress associated with teaching is more critical among teachers teaching children with special needs in general and those with autism specifically, partly due to the heterogeneous nature of the disorders. The purpose of this study was to investigate the effectiveness of Rational Emotive Occupational Health Coaching (REOHC) in minimizing job stress in teachers of children with autism (CWA). METHODS : A group-randomized waitlist control-trial design was adopted. A sample of 87 teachers of CWA who participated in the study was randomized into the immediate intervention group (IIG) and waitlist group (WLG). Participants were evaluated on 3 occasions : pretest, post-test and follow-up. Three instruments (Occupational Stress Index, Perceived Occupational Stress Scale and Stress Symptom Scale) were used to measure dimensions of job stress. After the pretest exercise, the IIG participated in a 2-hour REOHC programme weekly for a period of 12 weeks. Post- and follow-up evaluations were conducted respectively at 2 weeks and 3 months after the REOHC programme. Those in WLG were exposed to the REOHC after the follow-up assessment. Data collected were analysed using t-test statistics, repeated measures analysis of variance and bar charts. RESULTS : Results revealed that the perceived stress and stress symptoms of the REOHC group reduced significantly over WLG at post-test, and follow-up assessments. Changes in the occupational stress index scores across pre-, post- and follow-up measurements were minimal and could not account for a significant difference between the IIG and WLG. CONCLUSION : It was concluded that REOHC is effective in reducing subjective feelings and physiological symptoms of job stress, even when the objective stressors remain constant among teachers of CWA and other employees who work in stressful occupational environments.

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21. Soul JS, Spence SJ. Predicting Autism Spectrum Disorder in Very Preterm Infants. Pediatrics ;2020 (Sep 8)

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22. Suzuki K, Oi Y, Inagaki M. The Relationships Among Autism Spectrum Disorder Traits, Loneliness, and Social Networking Service Use in College Students. J Autism Dev Disord ;2020 (Sep 10)

This study aimed to explore the relationships among autism spectrum disorder (ASD) traits, loneliness, and social networking services (SNS) use. We created a questionnaire to evaluate manners during LINE use, which included five factors : "low literacy," "inactive use," "low responsiveness," "lack of consideration," and "low group activity." Structural equation modeling revealed that difficulties in attention switching and low communication skills were associated with low literacy, low social skills were associated with inactive use, and low literacy and inactive use were associated with loneliness. We suggested that SNS use plays a role in maintaining and enhancing friendships, whereas college students with higher ASD traits tend to use inappropriate manners for SNS, which is associated with loneliness.

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23. Tarbox CM, Silverman EA, Chastain AN, Little A, Bermudez TL, Tarbox J. Taking ACTion : 18 Simple Strategies for Supporting Children With Autism During the COVID-19 Pandemic. Behav Anal Pract ;2020 (Sep 2):1-29.

The COVID-19 pandemic has dramatically uprooted the lives of families around the world. Families living with children with autism spectrum disorder (ASD) may be particularly affected due to being abruptly deprived of their usual in-person support from applied behavior analysis (ABA) service providers. This article gives how-to instructions on 18 simple acceptance and commitment training (ACT) programs that can be used as supplements to ongoing ABA services to support children with ASD whose verbal repertoires may play a part in the challenges they are facing during the current crisis. We describe several challenges that have been frequently reported by families and ABA practitioners during the pandemic. For each behavioral challenge, we provide a brief practical description, brief behavioral conceptual description, and how-to guidance on implementing ACT procedures that address each behavioral challenge at a functional level. The Appendix contains child-friendly worksheets for practitioners to use as visual supports while implementing the intervention procedures.

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24. Thom RP, Hazen MM, McDougle CJ, Hazen EP. Providing Inpatient Medical Care to Children With Autism Spectrum Disorder. Hosp Pediatr ;2020 (Sep 8)

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, affecting an estimated 1 in 40 children. Children with ASD have high rates of medical comorbidity and often experience high levels of distress during medical admissions, increasing the risk of agitation. Pediatric hospitalists receive minimal formal training on the inpatient care of children with ASD. In this article, we review strategies that pediatric hospitalists can use to optimize the care of children with ASD during inpatient admissions. These include gathering an ASD-related history early in the admission to understand the child’s baseline core ASD symptoms, including social and communication ability, sensory needs, and restricted or repetitive behaviors. This information can be used to tailor the hospitalist’s approach in each of these 3 domains. We conclude by reviewing procedure-related considerations, an approach to managing agitation, and quality improvement interventions.

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25. Trujillo Villarreal LA, Cárdenas-Tueme M, Maldonado-Ruiz R, Reséndez-Pérez D, Camacho-Morales A. Potential role of primed microglia during obesity on the mesocorticolimbic circuit in autism spectrum disorder. J Neurochem ;2020 (Aug 9)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disease which involves functional and structural defects in selective central nervous system (CNS) regions that harm function and individual ability to process and respond to external stimuli. Individuals with ASD spend less time engaging in social interaction compared to non-affected subjects. Studies employing structural and functional magnetic resonance imaging reported morphological and functional abnormalities in the connectivity of the mesocorticolimbic reward pathway between the nucleus accumbens and the ventral tegmental area (VTA) in response to social stimuli, as well as diminished medial prefrontal cortex in response to visual cues, whereas stronger reward system responses for the non-social realm (e.g., video games) than social rewards (e.g., approval), associated with caudate nucleus responsiveness in ASD children. Defects in the mesocorticolimbic reward pathway have been modulated in transgenic murine models using D2 dopamine receptor heterozygous (D2+/-) or dopamine transporter knockout mice, which exhibit sociability deficits and repetitive behaviors observed in ASD phenotypes. Notably, the mesocorticolimbic reward pathway is modulated by systemic and central inflammation, such as primed microglia, which occurs during obesity or maternal overnutrition. Therefore, we propose that a positive energy balance during obesity/maternal overnutrition coordinates a systemic and central inflammatory crosstalk that modulates the dopaminergic neurotransmission in selective brain areas of the mesocorticolimbic reward pathway. Here, we will describe how obesity/maternal overnutrition may prime microglia, causing abnormalities in dopamine neurotransmission of the mesocorticolimbic reward pathway, postulating a possible immune role in the development of ASD.

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26. Vetri L. Autism and Migraine : An Unexplored Association ?. Brain Sci ;2020 (Sep 6) ;10(9)

Autism spectrum disorder is characterized by neurological, psychiatric and medical comorbidities-some conditions co-occur so frequently that comorbidity in autism is the rule rather than the exception. The most common autism co-occurring conditions are intellectual disability, language disorders, attention-deficit hyperactivity disorder, epilepsy, gastrointestinal problems, sleep disorders, anxiety, depression, obsessive-compulsive disorder, psychotic disorders, oppositional defiant disorder, and eating disorders. They are well known and studied. Migraine is the most common brain disease in the world, but surprisingly only a few studies investigate the comorbidity between autism and migraine. The aim of this narrative review is to explore the literature reports about the comorbidity between autism and migraine and to investigate the common neurotransmitter, immune, anatomical and genetic abnormalities at the base of these two conditions.

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27. Weiss JA, Lai JKY, Lee V, Lunsky Y. Predictors of Changes in Daily Activity in Transition-Age Autistic Youth. Autism Res ;2020 (Sep 9)

Transitioning into adulthood is fraught with challenges for autistic youth. A greater understanding of the facilitators of community involvement in school and employment during this period is warranted. The current study examines changes in service need and receipt, and the stability of accessing daily structured activities, for autistic young adults over their transition period compared to adolescents and adults that did not enter the transition period. Baseline caregiver survey data were taken from the Canadian Autism Spectrum Disorders Alliance National Autism Needs Assessment Survey in 2014, and caregivers (n = 304) completed the same set of questions in 2017 about sociodemographic factors, clinical need, service receipt and typical weekday activities. Three cohorts were compared : (1) pretransition age youth, (2) transition-age youth, and (3) young adults who were past transition age. Results suggest that transition-age youth were found to have a unique set of priority service needs compared to pre transition-age adolescent and to adult groups, and both transition-age and adult groups had lower levels of priority service receipt compared to pretransition-age adolescents. The transition-age group experienced the greatest loss of structured weekday activity between time points, and were more likely than pretransition-age adolescents to not have structured weekday activities at Time 2. A recovery of structured daily activity was not observed in young adults. Our results highlight the tumultuous nature of the transition period for autistic youth, which continues into adulthood, and the urgent need for supports during this time. LAY SUMMARY : This research highlights that autistic young people who are transitioning to adulthood are at greatest risk of losing structured weekday activities, and that once in adulthood, many continue to struggle to obtain meaningful community engagement. These results can help guide the design of adolescent and young adult transition programs.

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28. Wongpaiboonwattana W, Plong-On O, Hnoonual A, Limprasert P. Significant associations between 5-hydroxytryptaminetransporter-linked promoter region polymorphisms of the serotonin transporter (solute carrier family 6 member 4) gene and Thai patients with autism spectrum disorder. Medicine (Baltimore) ;2020 (Sep 4) ;99(36):e21946.

Autism spectrum disorder (ASD) is a form of pervasive developmental disorder manifested by impairment in social interactions and repetitive behaviors. Although genetic contribution is strongly suspected in autism, the specific genetic factors remain unidentified. Hyperserotoninemia has been reported in some autistic patients, and several studies have demonstrated an association between 5-hydroxytryptamine-transporter-linked promoter region (5-HTTLPR) polymorphisms and rs25531 single nucleotide polymorphism in the serotonin transporter gene (solute carrier family 6 member 4 ; SLC6A4) and ASD, indicating a possible involvement of the serotonin system in the etiology of ASD.To explore this situation further, a case-control association study of 5-HTTLPR and rs25531 polymorphisms on Thai ASD patients was conducted. A total of 188 ASD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM-IV) criteria (156 males and 32 females) and a total of 250 normal controls were recruited from the same ethnic backgrounds. 5-HTTLPR polymorphisms (Long, L ; Short, S) and rs25531 (A/G) single nucleotide polymorphism were genotyped and compared between the patients and normal controls using chi-square statistics.The L/L genotype was more common in patients than in the controls (13.8% vs 5.2%, P = .006), and the LA haplotype was found in patients more than the controls (16.9% vs 12.2%, P = .048). When male patients were analyzed alone (156 individuals), the associations were also statistically significant with P = .017 for L/L genotype, and P = .019 for LA haplotype distribution.Our findings support previous reports suggesting an association between the 5-HTTLPR and rs25531 polymorphisms of SLC6A4 and patients with ASD.

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