1. Baker EK, Butler MG, Hartin SN, Ling L, Bui M, Francis D, Rogers C, Field MJ, Slee J, Gamage D, Amor DJ, Godler DE. {{Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders}}. {Translational psychiatry}. 2020; 10(1): 362.
Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region, associated with abnormal DNA methylation and/or copy number changes. This study compared changes in mRNA levels of UBE3A and SNORD116 located within the 15q11-q13 region between these disorders and their subtypes and related these to the clinical phenotypes. The study cohort included 58 participants affected with a C15 imprinting disorder (PWS = 27, AS = 21, Dup15q = 10) and 20 typically developing controls. Semi-quantitative analysis of mRNA from peripheral blood mononuclear cells (PBMCs) was performed using reverse transcription droplet digital polymerase chain reaction (PCR) for UBE3A and SNORD116 normalised to a panel of internal control genes determined using the geNorm approach. Participants completed an intellectual/developmental functioning assessment and the Autism Diagnostic Observation Schedule-2nd Edition. The Dup15q group was the only condition with significantly increased UBE3A mRNA levels when compared to the control group (p < 0.001). Both the AS and Dup15q groups also had significantly elevated SNORD116 mRNA levels compared to controls (AS: p < 0.0001; Dup15q: p = 0.002). Both UBE3A and SNORD116 mRNA levels were positively correlated with all developmental functioning scores in the deletion AS group (p < 0.001), and autism features (p < 0.001) in the non-deletion PWS group. The findings suggest presence of novel interactions between expression of UBE3A and SNORD116 in PBMCs and brain specific processes underlying motor and language impairments and autism features in these disorders. Lien vers le texte intégral (Open Access ou abonnement)
2. Briševac D, Scholz R, Du D, Elagabani MN, Köhr G, Kornau HC. {{The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome}}. {Journal of neurochemistry}. 2020.
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, results from silencing of the Fragile X mental retardation gene 1 (FMR1). Analyses of FXS patients’ brain autopsies revealed an increased density of immature dendritic spines in cortical areas. We hypothesize that the small GTPase Arf6, an actin regulator critical for the development of glutamatergic synapses and dendritic spines, is implicated in FXS. Here, we determined the fraction of active, GTP-bound Arf6 in cortical neuron cultures and synaptoneurosomes from Fmr1 knockout mice, measured actin polymerization in neurons expressing Arf6 mutants with variant GTP- or GDP-binding properties, and recorded hippocampal long-term depression induced by metabotropic glutamate receptors (mGluR-LTD) in acute brain slices. We detected a persistently elevated Arf6 activity, a loss of Arf6 sensitivity to synaptic stimulation and an increased Arf6-dependent dendritic actin polymerization in mature Fmr1 knockout neurons. Similar imbalances in Arf6-GTP levels and actin filament assembly were caused in wild-type neurons by RNAi-mediated depletion of the postsynaptic Arf6 guanylate exchange factors IQSEC1 (BRAG2) or IQSEC2 (BRAG1). Targeted deletion of Iqsec1 in hippocampal neurons of three-week-old mice interfered with mGluR-LTD in wild-type, but not in Fmr1 knockout mice. Collectively, these data suggest an aberrant Arf6 regulation in Fmr1 knockout neurons with consequences for the actin cytoskeleton, spine morphology and synaptic plasticity. Moreover, FXS and syndromes caused by genetic variants in IQSEC1 and IQSEC2 share intellectual disabilities and developmental delay as main symptoms. Therefore, dysregulation of Arf6 may contribute to the cognitive impairment in FXS.
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3. Cha IJ, Lee D, Park SS, Chung CG, Kim SY, Jo MG, Kim SY, Lee BH, Lee YS, Lee SB. {{Ataxin-2 Dysregulation Triggers a Compensatory Fragile X Mental Retardation Protein Decrease in Drosophila C4da Neurons}}. {Molecules and cells}. 2020; 43(10): 870-9.
Dendrites require precise and timely delivery of protein substrates to distal areas to ensure the correct morphology and function of neurons. Many of these protein substrates are supplied in the form of ribonucleoprotein (RNP) complex consisting of RNA-binding proteins (RBPs) and mRNAs, which are subsequently translated in distal dendritic areas. It remains elusive, however, whether key RBPs supply mRNA according to local demands individually or in a coordinated manner. In this study, we investigated how Drosophila sensory neurons respond to the dysregulation of a disease-associated RBP, Ataxin-2 (ATX2), which leads to dendritic defects. We found that ATX2 plays a crucial role in spacing dendritic branches for the optimal dendritic receptive fields in Drosophila class IV dendritic arborization (C4da) neurons, where both expression level and subcellular location of ATX2 contribute significantly to this effect. We showed that translational upregulation through the expression of eukaryotic translation initiation factor 4E (eIF4E) further enhanced the ATX2-induced dendritic phenotypes. Additionally, we found that the expression level of another disease-associated RBP, fragile X mental retardation protein (FMRP), decreased in both cell bodies and dendrites when neurons were faced with aberrant upregulation of ATX2. Finally, we revealed that the PAM2 motif of ATX2, which mediates its interaction with poly(A)-binding protein (PABP), is potentially necessary for the decrease of FMRP in certain neuronal stress conditions. Collectively, our data suggest that dysregulation of RBPs triggers a compensatory regulation of other functionally-overlapping RBPs to minimize RBP dysregulation-associated aberrations that hinder neuronal homeostasis in dendrites.
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4. Chen HR, Chen CW, Mandhani N, Short-Miller JC, Smucker MR, Sun YY, Kuan CY. {{Monocytic Infiltrates Contribute to Autistic-like Behaviors in a Two-Hit Model of Neurodevelopmental Defects}}. {J Neurosci}. 2020.
Growing evidence suggests that early-life interactions among genetic, immune, and environment factors may modulate neurodevelopment and cause psycho-cognitive deficits. Maternal immune activation (MIA) induces autism-like behaviors in offspring, but how it interplays with perinatal brain injury (especially birth asphyxia or hypoxia-ischemia [HI]) is unclear. Herein we compared the effects of MIA (injection of poly[I:C] to dam at gestational day 12.5), HI at postnatal day 10, and the combined MIA/HI insult in murine offspring of both sexes. We found that MIA induced autistic-like behaviors without microglial activation, but amplified post-HI NFκB signaling, pro-inflammatory responses, and brain injury in offspring. Conversely, HI neither provoked autistic-like behaviors nor concealed them in the MIA-offspring. Instead, the dual MIA/HI insult added autistic-like behaviors with diminished synaptic density and reduction of autism-related PSD-95 and Homer-1 in the hippocampus, which were missing in the singular MIA or HI insult. Further, the dual MIA/HI insult enhanced the brain influx of Otx2-positive monocytes that are associated with an increase of perineuronal net (PNN)-enwrapped parvalbumin (PV) neurons. Using CCR2-CreER mice to distinguish monocytes from the resident microglia, we found that the monocytic infiltrates gradually adopted a ramified morphology and expressed the microglial signature genes (Tmem119, P2RY12, and Sall1) in post-MIA/HI brains, while some continuing to express the pro-inflammatory cytokine TNFα. Finally, genetic or pharmacological obstruction of monocytic influx significantly reduced PNN-enwrapped PV neurons and autistic-like behaviors in MIA/HI offspring. Taken together, these results suggest a pathological role of monocytes in the two-hit (immune plus neonatal HI) model of neurodevelopmental defects.SIGNIFICANCE STATEMENTIn Autism Spectrum Disorders (ASD), prenatal infection or maternal immune activation (MIA) may act as a primer for multiple genetic and environmental factors to impair neurodevelopment. This study examined whether MIA cooperates with neonatal cerebral hypoxia-ischemia (HI) to promote ASD-like aberrations in mice using a novel two-hit model. It was shown that the combination of MIA and neonatal HI produces autistic-like behaviors in the offspring, and has synergistic effects in inducing neuroinflammation, monocytic infiltrates, synaptic defects, and perineuronal nets (PNNs). Furthermore, genetic or pharmacological intervention of the MCP1-CCR2 chemoattractant pathway markedly reduced monocytic infiltrates, PNNs, and autistic-like behaviors. These results suggest reciprocal escalation of immune and neonatal brain injury in a subset of ASD that may benefit from monocyte-targeted treatments.
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5. Chien CW, Lai YYC, Lin CY, Graham F. {{Occupational Performance Coaching with Parents to Promote Community Participation and Quality of Life of Young Children with Developmental Disabilities: A Feasibility Evaluation in Hong Kong}}. {Int J Environ Res Public Health}. 2020; 17(21).
Participation in community activities contributes to child development and health-related quality of life (HRQOL), but restricted participation has been reported in children with disabilities. Occupational performance coaching (OPC) is an intervention that targets participatory goals in child performance through coaching parents, with evidence of effectiveness for pediatric populations. Little is known about the feasibility of OPC in Hong Kong, or its effect on children’s community participation and HRQOL. A mixed-methods case study design was applied to explore Hong Kong parents’ experience of OPC in relation to goal achievement, community participation, and HRQOL change in children. Four parents of young children with developmental disabilities (aged five to six years) received OPC for three to eight sessions within one to three months. Quantitative pre- and post-intervention data were analyzed descriptively. Semi-structured interviews with parents were conducted at post-intervention, and analyzed using content analysis. Results showed a trend of improvement in goal performance, child involvement in community activities, and specific aspects of HRQOL among most participants. Parents perceived undertaking OPC positively, described gaining insights and skills, and felt supported. The findings suggest that OPC warrants further investigation for use in Hong Kong, to promote children’s community participation and quality of life.
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6. Feldman JI, Cassidy M, Liu Y, Kirby AV, Wallace MT, Woynaroski TG. {{Relations between Sensory Responsiveness and Features of Autism in Children}}. {Brain Sci}. 2020; 10(11).
Autism is a neurodevelopmental condition defined by differences in social communication and by the presence of restricted and repetitive patterns of behavior, interests, and activities (RRBs). Individuals with autism also commonly present with atypical patterns of sensory responsiveness (i.e., hyporesponsiveness, hyperresponsiveness, and sensory seeking), which are theorized to produce cascading effects across other domains of development. The purpose of this study was to examine differences in sensory responsiveness in children with and without autism (ages 8-18 years), as well as relations between patterns of sensory responsiveness and core and related features of autism. Participants were 50 children with autism and 50 non-autistic peers matched on age and sex. A comprehensive clinical battery included multiple measures of sensory responsiveness, core features of autism, adaptive behavior, internalizing behaviors, cognitive ability, and language ability. Groups significantly differed on all three patterns of sensory responsiveness. Some indices of core and related autism features were robustly associated with all three patterns of sensory responsiveness (e.g., RRBs), while others were more strongly associated with discrete patterns of sensory responsiveness (i.e., internalizing problem behaviors and hyperresponsiveness, language and sensory seeking). This study extends prior work to show that differences in sensory responsiveness that are linked with core and related features of autism persist in older children and adolescents on the spectrum.
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7. Fombonne E, Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O’Roak BJ. {{Autism questionnaire scores do not only rise because of autism}}. {Dev Med Child Neurol}. 2020.
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8. Garcia-Gutierrez E, Narbad A, Rodríguez JM. {{Autism Spectrum Disorder Associated With Gut Microbiota at Immune, Metabolomic, and Neuroactive Level}}. {Front Neurosci}. 2020; 14: 578666.
There is increasing evidence suggesting a link between the autism spectrum disorder (ASD) and the gastrointestinal (GI) microbiome. Experimental and clinical studies have shown that patients diagnosed with ASD display alterations of the gut microbiota. These alterations do not only extend to the gut microbiota composition but also to the metabolites they produce, as a result of its connections with diet and the bidirectional interaction with the host. Thus, production of metabolites and neurotransmitters stimulate the immune system and influence the central nervous system (CNS) by stimulation of the vagal nerve, as an example of the gut-brain axis pathway. In this review we compose an overview of the interconnectivity of the different GI-related elements that have been associated with the development and severity of the ASD in patients and animal models. We review potential biomarkers to be used in future studies to unlock further connections and interventions in the treatment of ASD.
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9. Hernández-García I, Chamorro AJ, Ternavasio-de la Vega HG, Carbonell C, Marcos M, Mirón-Canelo JA. {{Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies}}. {Int J Environ Res Public Health}. 2020; 17(21).
Autistic spectrum disorder (ASD) is a complex neurodevelopmental disability with a genetic basis, and several studies have suggested a potential role of the reelin gene (RELN) in ASD susceptibility. Accordingly, genetic association studies have explored this potential association, but the results have been controversial thus far. For this reason, we assessed the association of four genetic variants of RELN (the 5’UTR CGG triplet repeat and polymorphisms rs736707, rs362691, and rs2229864) with ASD by means of a systematic review and meta-analysis. We retrieved studies comparing the distribution of the above-mentioned genetic variants between ASD patients and healthy controls. A meta-analysis was conducted using a random effects model, and calculations of the odds ratios (ORs) and confidence intervals (CIs) were performed. A sensitivity analysis and tests to determine the heterogeneity of the results were also performed. Eleven previous studies fulfilled the inclusion criteria and analyzed the association of the above-mentioned genetic variants and ASD. We did not find any significant association between the allele or genotype frequencies of the analyzed polymorphisms and ASD, and large heterogeneity was found for the rs736707 polymorphism. Moreover, no significant differences were found between the 5’UTR triplet repeat and this disorder. In light of current evidence, no single genetic variant within this gene is clearly associated with the development of ASD, and ethnic differences may explain part of the observed heterogeneity. Larger studies among different ethnic groups are needed to establish the role of specific genetic variants within RELN in the etiology of this disorder.
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10. Levy Y. {{Commentary: Time to reconceptualize ASD? comments on Happe and Frith (2020) and Sonuga-Barke (2020)}}. {J Child Psychol Psychiatry}. 2020.
Happe and Frith (2020) list seven changes in the concept of autism that have taken place since the 80s when autism became the focus of clinical concerns and research interests. These dramatic changes, supported by additional research results, have not convinced Sonuga-Barke (2020) that a Kuhnian revolution in psychiatric nosology may be at our front door. This commentary will discuss this conclusion, calling on ASD researchers to re-evaluate the benefits of a paradigm shift in the nosology of ASD.
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11. Liddle M, Sonnentag TL. {{Effectiveness of Adaptive Care Plans for Children with Developmental Disabilities During Outpatient Clinic Appointments}}. {J Autism Dev Disord}. 2020.
Children with developmental disabilities require more medical experiences than typically-developing children and struggle to cooperate with healthcare encounters. Adaptive care plans, delivered by child life specialists, are individualized patient-centered plans created to address the challenges that children with developmental disabilities experience. The current study evaluated if adaptive care plans affect the psychosocial outcomes of children with ASD compared to those with other developmental disabilities. One-hundred and sixty children between 3 and 18 years of age (child’s M(age) = 8.10, SD = 3.75) participated. Although children with developmental disabilities who had adaptive care plans did not generally experience less psychosocial distress; children with ASD who had adaptive care plans experienced fewer challenges with anxiety and coping compared to children with ASD who did not have adaptive care plans.
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12. Mei T, Llera A, Floris DL, Forde NJ, Tillmann J, Durston S, Moessnang C, Banaschewski T, Holt RJ, Baron-Cohen S, Rausch A, Loth E, Dell’Acqua F, Charman T, Murphy DGM, Ecker C, Beckmann CF, Buitelaar JK. {{Gray matter covariations and core symptoms of autism: the EU-AIMS Longitudinal European Autism Project}}. {Mol Autism}. 2020; 11(1): 86.
BACKGROUND: Voxel-based morphometry (VBM) studies in autism spectrum disorder (autism) have yielded diverging results. This might partly be attributed to structural alterations being associating with the combined influence of several regions rather than with a single region. Further, these structural covariation differences may relate to continuous measures of autism rather than with categorical case-control contrasts. The current study aimed to identify structural covariation alterations in autism, and assessed canonical correlations between brain covariation patterns and core autism symptoms. METHODS: We studied 347 individuals with autism and 252 typically developing individuals, aged between 6 and 30 years, who have been deeply phenotyped in the Longitudinal European Autism Project. All participants’ VBM maps were decomposed into spatially independent components using independent component analysis. A generalized linear model (GLM) was used to examine case-control differences. Next, canonical correlation analysis (CCA) was performed to separately explore the integrated effects between all the brain sources of gray matter variation and two sets of core autism symptoms. RESULTS: GLM analyses showed significant case-control differences for two independent components. The first component was primarily associated with decreased density of bilateral insula, inferior frontal gyrus, orbitofrontal cortex, and increased density of caudate nucleus in the autism group relative to typically developing individuals. The second component was related to decreased densities of the bilateral amygdala, hippocampus, and parahippocampal gyrus in the autism group relative to typically developing individuals. The CCA results showed significant correlations between components that involved variation of thalamus, putamen, precentral gyrus, frontal, parietal, and occipital lobes, and the cerebellum, and repetitive, rigid and stereotyped behaviors and abnormal sensory behaviors in autism individuals. LIMITATIONS: Only 55.9% of the participants with autism had complete questionnaire data on continuous parent-reported symptom measures. CONCLUSIONS: Covaried areas associated with autism diagnosis and/or symptoms are scattered across the whole brain and include the limbic system, basal ganglia, thalamus, cerebellum, precentral gyrus, and parts of the frontal, parietal, and occipital lobes. Some of these areas potentially subserve social-communicative behavior, whereas others may underpin sensory processing and integration, and motor behavior.
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13. Miller LE, Kaseda ET, Koop JI, Mau KA, Heffelfinger AK. {{Differential access to neuropsychological evaluation in children with perinatal complications or autism spectrum disorder: Impact of sociodemographic factors}}. {The Clinical neuropsychologist}. 2020: 1-21.
Early childhood evaluation can identify deficits related to disruptions in early brain development and facilitate interventions. Access to care may differ by race/ethnicity or socioeconomic status. We explored neuropsychological evaluation access patterns and examined potential sociodemographic disparities in evaluation timing. Method: Participants were 213 children (age: M = 46.4 months, SD = 15.3 months) with a history of disrupted neural development due to perinatal complications (PC; n = 109) or autism spectrum disorder (ASD; n = 104). We used chi square tests of independence and one-way ANOVAs to compare groups on sociodemographics, referral sources, and cognition. Clinical sample means for cognitive and adaptive variables were compared to normative means to determine the presence of developmental delays. Differences in age at evaluation by race/ethnicity, caregiver education, and referral source, accounting for cognition, were explored with ANCOVAs. Results: The ASD group included significantly more White children and the PC group relatively more Black/African Americans. Children with ASD were referred by primary care physicians and caregivers/school staff; those with PC were referred by other medical providers. All participants performed more poorly than expected across all intellectual and adaptive domains, with greater delays in the ASD group. Children of caregivers with lower education were evaluated earlier in the PC group. For ASD, participants referred by primary care physicians were evaluated earlier. Conclusions: Children with PC and ASD exhibit cognitive delays and require neuropsychological evaluation. Disparities in access to care exist, particularly for minority children with ASD. Ways to promote equal access are discussed.
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14. Nuñez-Gomez P, Alvarez-Ruiz A, Ortega-Mohedano F, Alvarez-Flores EP. {{Neuromarketing Highlights in How Asperger Syndrome Youth Perceive Advertising}}. {Front Psychol}. 2020; 11: 2103.
This study examines how advertising material and brands related to organizational communication are perceived by people with Asperger syndrome, a form of autism. The main objective of the study was to understand whether the perception of advertising differs between individuals with AS and a neurotypical population. Neuromarketing techniques were used to examine two key variables, attention and emotion, which were also measured by physiological and biometric variables. The results were compared with those of a control group from a neurotypical population; i.e., participants who had not been diagnosed with any type of developmental disorder. Commercial advertisements were the preferred material used in this research although social-themed advertisements were also included, some produced by commercial companies and others by institutional advertisers (NGOs and foundations). Qualitative techniques were also used to explain the observed phenomena. Data revealed significant differences between the two groups in their perception of advertising and organizational communication with respect to attention and emotion variables.
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15. Redquest BK, Tint A, Ries H, Lunsky Y. {{Exploring the experiences of siblings of adults with intellectual/developmental disabilities during the COVID-19 pandemic}}. {J Intellect Disabil Res}. 2020.
BACKGROUND: The COVID-19 pandemic has caused many adults with intellectual/developmental disabilities (IDD) to lose their daily routines and social support, and as a result, many adults with IDD are increasingly reliant on their family caregivers. Siblings often play a crucial support role for their brothers and sisters with IDD. As such, this study aimed to describe the experiences of adult siblings of people with IDD during the COVID-19 pandemic. METHODS: The Sibling Collaborative worked with researchers to codesign an online survey, completed by 91 people, exploring sibling supports and concerns during the COVID-19 pandemic. The survey also aimed to identify helpful resources for siblings during this time. RESULTS: The results showed that the majority of siblings are supporting their brother or sister with IDD during the COVID-19 pandemic and are concerned about the health and well-being of their brother/sister. The most common concern related to disruption of their brother’s or sister’s routine and activities. Although responses of older and younger siblings did not differ from each other, siblings whose brother or sister with IDD lived with family had some unique concerns relative to those whose siblings no longer lived with family. Siblings described how their own self-care and relationships with others, as well as support for their brother/sister, were particularly helpful during the COVID-19 pandemic. CONCLUSIONS: Siblings are providing key support to their brother or sister with IDD during the COVID-19 pandemic, and they too must be supported. Siblings should be included in efforts to disseminate resources targeting people with IDD and their feedback and input must be obtained. It is also important to include sibling mental wellness as caregiver supports are created and implemented. More research is needed to further understand how to support sibling caregivers.
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16. Scheithauer M, Call NA, Lomas Mevers J, McCracken CE, Scahill L. {{A Feasibility Randomized Clinical Trial of a Structured Function-Based Intervention for Elopement in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Elopement is a common and dangerous concern in autism spectrum disorder (ASD). There is evidence that behavior analytic treatments can successfully treat elopement, but the research is limited due to small samples and treatment components varying across studies. The current study evaluated the feasibility of studying a manualized intervention for elopement, based on strategies from single-subject research, in a randomized clinical trial with 24 individuals with ASD. Results demonstrated that recruitment was feasible; the manual was acceptable to parents; and therapists followed the manual with high-integrity. Initial efficacy results measured by the Aberrant Behavior Checklist, Clinical Global Impression Scale, and a Home Elopement Safety Checklist suggested improvement in the treatment group that should be studied in future research.
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17. Schiltz HK, McVey AJ, Dolan Wozniak B, Haendel AD, Stanley R, Arias A, Gordon N, Van Hecke AV. {{The role of loneliness as a mediator between autism features and mental health among autistic young adults}}. {Autism}. 2020: 1362361320967789.
Autistic adults commonly experience mental health concerns including social anxiety and depression, which can have negative effects on their quality of life. It is not completely clear, however, why rates of mental health concerns are so high. Some evidence suggests that social connectedness might play a key role. The goal of this study was to explore links between loneliness, mental health concerns, autism features, and social contact among autistic adults and test whether the links between mental health with autism features and social contact can be explained by loneliness. Researchers in this study collected data using questionnaires completed by 69 autistic young adults. Autistic adults who reported more autism features also reported more social and family loneliness, higher levels of social anxiety and depression, and fewer initiated social contacts. In addition, adults with more social contact initiations were likely to report lower levels of social and family loneliness and social anxiety but not depression. Results showed that the link from social engagement and autism features to social anxiety and depression symptoms could be mostly explained by loneliness. The results of this study expand previous findings by illustrating one factor (loneliness) that might be responsible for the high rates of mental health concerns among adults on the autism spectrum. These findings highlight the importance of studying factors related to mental health concerns among autistic adults and ways to best support social connectedness for the mental well-being of autistic young adults.
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18. Schiltz HK, Van Hecke AV. {{Applying the Vulnerability Stress Adaptation Model of Marriage to Couples Raising an Autistic Child: A Call for Research on Adaptive Processes}}. {Clinical child and family psychology review}. 2020.
Parents of children on the autism spectrum are particularly susceptible to strain in their romantic relationships due to unique risk factors. While some relationships deteriorate, however, others endure and thrive. The Vulnerability Stress Adaptation (VSA) Model of Marriage (Karney & Bradbury, 1995; Fig. 1) offers a framework to explain, not only poor marital outcomes, but also the process by which degradation of relationships occurs over time. The VSA Model posits that a combination of internal (within-person) vulnerabilities and external stressors influence relationship quality and, in turn, stability, by affecting couples’ abilities to collaborate to adapt to stressors and solve problems (i.e., adaptive processes). With robust theoretical grounding, this review comprehensively summarizes and integrates literature pertaining to the romantic relationships of couples raising an autistic child through the lens of the VSA Model. Vulnerabilities, stressors, and adaptive processes relevant to these couples are identified, and empirical evidence pertaining to the proposed pathways in the VSA Model is explored. The body of research reviewed provides support for many of the proposed pathways in the VSA Model, especially related to certain stressors (i.e., child behavior problems) and vulnerabilities (i.e., parent depression), yet it falls short in exploring mechanisms by which these factors beget marital dysfunction (i.e., through adaptive processes). Additional gaps and methodological limitations in the literature are highlighted, and recommendations for future research are provided.
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19. Su WC, Culotta M, Mueller J, Tsuzuki D, Pelphrey K, Bhat A. {{Differences in cortical activation patterns during action observation, action execution, and interpersonal synchrony between children with or without autism spectrum disorder (ASD): An fNIRS pilot study}}. {PLoS One}. 2020; 15(10): e0240301.
Engaging in socially embedded actions such as imitation and interpersonal synchrony facilitates relationships with peers and caregivers. Imitation and interpersonal synchrony impairments of children with Autism Spectrum Disorder (ASD) might contribute to their difficulties in connecting and learning from others. Previous fMRI studies investigated cortical activation in children with ASD during finger/hand movement imitation; however, we do not know whether these findings generalize to naturalistic face-to-face imitation/interpersonal synchrony tasks. Using functional near infrared spectroscopy (fNIRS), the current study assessed the cortical activation of children with and without ASD during a face-to-face interpersonal synchrony task. Fourteen children with ASD and 17 typically developing (TD) children completed three conditions: a) Watch-observed an adult clean up blocks; b) Do-cleaned up the blocks on their own; and c) Together-synchronized their block clean up actions to that of an adult. Children with ASD showed lower spatial and temporal synchrony accuracies but intact motor accuracy during the Together/interpersonal synchrony condition. In terms of cortical activation, children with ASD had hypoactivation in the middle and inferior frontal gyri (MIFG) as well as middle and superior temporal gyri (MSTG) while showing hyperactivation in the inferior parietal cortices/lobule (IPL) compared to the TD children. During the Together condition, the TD children showed bilaterally symmetrical activation whereas children with ASD showed more left-lateralized activation over MIFG and right-lateralized activation over MSTG. Additionally, using ADOS scores, in children with ASD greater social affect impairment was associated with lower activation in the left MIFG and more repetitive behavior impairment was associated with greater activation over bilateral MSTG. In children with ASD better communication performance on the VABS was associated with greater MIFG and/or MSTG activation. We identified objective neural biomarkers that could be utilized as outcome predictors or treatment response indicators in future intervention studies.
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20. Swanson MW, Lee SD, Frazier MG, Bade A, Coulter RA. {{Vision Screening among Children with Autism Spectrum Disorder}}. {Optometry and vision science : official publication of the American Academy of Optometry}. 2020.
SIGNIFICANCE: Vision problems occur at higher rates in children with autism spectrum disorder (ASD) than in the general population. Some professional organizations recommend that children with neurodevelopmental disorders need comprehensive assessment by eye care professionals rather than vision screening. METHODS: Data from the 2011 to 2012 National Survey of Children’s Health (NSCH) were accessed. Logistic regression was used to evaluate differences between vision screening rates in eye care professionals’ offices and other screening locations among children with and without ASD. RESULTS: Overall, 82.21% (95% confidence interval [CI], 78.35 to 86.06%) of children with ASD were reported to have had a vision screening as defined by the NSCH criteria. Among children younger than 5 years with ASD, 8.87% (95% CI, 1.27 to 16.5%) had a vision screening at a pediatrician’s office, 41.1% (95% CI, 20.54 to 61.70%) were screened at school, and 37.62% (95% CI, 9.80 to 55.45%) were examined by an eye care professionals. Among children with ASD older than 5 years, 24.84% (95% CI, 18.42 to 31.26%) were screened at school, 22.24% (95% CI, 17.26 to 27.21%) were screened at the pediatricians’ office, and 50.15% (95% CI, 44.22 to 56.08%) were examined by eye care professionals. Based on estimates from NSCH, no children in the U.S. population younger than 5 years with ASD screened in a pediatrician’s office were also seen by an eye care provider. CONCLUSIONS: If the public health goal is to have all children with ASD assessed in an eye care professional’s office, data from the NSCH indicate that we as a nation are falling far short of that target.
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21. Tromans S, Kinney M, Chester V, Alexander R, Roy A, Sander JW, Dudson H, Shankar R. {{Priority concerns for people with intellectual and developmental disabilities during the COVID-19 pandemic}}. {BJPsych open}. 2020; 6(6): e128.
BACKGROUND: The approach taken to support individuals during the coronavirus disease 2019 (COVID-19) pandemic needs to take into account the requirements of people with intellectual disabilities and/or autism, who represent a major vulnerable group, with higher rates of co-occurring health conditions and a greater risk of dying prematurely. To date, little evidence on COVID-related concerns have been produced and no report has provided structured feedback from the point of view of people with intellectual disabilities and/or autism or of their family/carers. AIMS: To provide systemised evidence-based information of the priority concerns for people with intellectual disabilities and/or autism regarding the COVID-19 pandemic. METHOD: Senior representatives of major UK-based professional and service-user representative organisations with a stake in the care of people with intellectual disabilities and/or autism were contacted to provide a list of concerns across three domains: ‘mental health and challenging behaviour’, ‘physical health and epilepsy’ and ‘social circumstances and support’. The feedback was developed into statements on frequently reported priorities. These statements were then rated independently by expert clinicians. A video-conference meeting to reconcile outliers and to generate a consensus statement list was held. RESULTS: Thirty-two organisations were contacted, of which 26 (81%) replied. From the respondent’s data, 30 draft consensus statements were generated. Following expert clinician review, there was initially strong consensus for seven statements (23%), increasing to 27 statements (90%) following video conferencing. CONCLUSIONS: These recommendations highlight the expectations of people with intellectual disabilities and/or autism in the current pandemic. This could support policymakers and professionals’ deliver and evidence person-centred care.
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22. Ueoka I, Pham HTN, Matsumoto K, Yamaguchi M. {{Correction: Ueoka, I., et al. Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents. Int. J. Mol. Sci. 2019, 20, 4071}}. {International journal of molecular sciences}. 2020; 21(21).
The author wishes to make the following correction to this paper […].
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23. Vetri L, Roccella M. {{On the Playing Field to Improve: A Goal for Autism}}. {Medicina (Kaunas, Lithuania)}. 2020; 56(11).
In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to report studies about the effects, improvements and difficulties that people with autism have to face when they play the world’s most popular team sport: soccer.
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24. Wagner L, Corona LL, Weitlauf AS, Marsh KL, Berman AF, Broderick NA, Francis S, Hine J, Nicholson A, Stone C, Warren Z. {{Use of the TELE-ASD-PEDS for Autism Evaluations in Response to COVID-19: Preliminary Outcomes and Clinician Acceptability}}. {J Autism Dev Disord}. 2020: 1-10.
The COVID-19 pandemic has caused unprecedented disruptions to healthcare, including direct impacts on service delivery related to autism spectrum disorder (ASD). Caregiver-mediated tele-assessment offers an opportunity to continue services while adhering to social distancing guidelines. The present study describes a model of tele-assessment for ASD in young children, implemented in direct response to disruptions in care caused by the COVID-19 pandemic. We present preliminary data on the outcomes and provider perceptions of tele-assessments, together with several lessons learned during the period of initial implementation.
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25. Wiggs KK, Rickert ME, Sujan AC, Quinn PD, Larsson H, Lichtenstein P, Oberg AS, D’Onofrio BM. {{Anti-seizure medication use during pregnancy and risk of ASD and ADHD in children}}. {Neurology}. 2020.
OBJECTIVE: To determine whether children born to women who use anti-seizure medications (ASMs) during pregnancy have higher risk of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) independent of confounding factors. METHODS: We used Swedish-register data (n = 14,614 children born 1996-2011 and followed through 2013) to examine associations in children of women with epilepsy, using the largest sample to date and adjusting for a range of measured confounders. We examined maternal-reported first-trimester use of any ASM (22.7%); and the 3 most commonly reported individual drugs (valproic acid, 4.8%; lamotrigine, 6.8%; and carbamazepine, 9.7%). We identified ASD with ICD-10 diagnoses and ADHD with ICD-10 diagnoses or filled prescriptions of ADHD medication. RESULTS: Examination of individual drugs revealed that after adjustment for confounding, use of valproic acid was associated with ASD (Hazard Ratio = 2.30, 95% CI = 1.53-3.47) and ADHD (HR = 1.74, 95% CI = 1.28-2.38). Whereas a small, non-statistically significant association with ASD (HR = 1.25, 95% CI = 0.88-1.79) and ADHD (HR = 1.18, 95% CI = 0.91-1.52) remained for reported use of carbamazepine, confounding explained all of the associations with lamotrigine (HR(ASD) = 0.86, 95% CI = 0.67-1.53; HR(ADHD) = 1.01, 95% CI = 0.67-1.53). CONCLUSIONS: We found no evidence of risk related to exposure to lamotrigine, whereas we observed elevated risk of ASD and ADHD related to maternal use of valproic acid. Associations with carbamazepine were weak and not statistically significant. Our findings add to a growing body of evidence that suggest that certain ASMs may be safer than others in pregnancy.
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26. Zhao J, Song J, Li X, Kang J. {{A study on EEG feature extraction and classification in autistic children based on singular spectrum analysis method}}. {Brain and behavior}. 2020: e01721.
INTRODUCTION: The clinical diagnosis of Autism spectrum disorder (ASD) depends on rating scale evaluation, which introduces subjectivity. Thus, objective indicators of ASD are of great interest to clinicians. In this study, we sought biomarkers from resting-state electroencephalography (EEG) data that could be used to accurately distinguish children with ASD and typically developing (TD) children. METHODS: We recorded resting-state EEG from 46 children with ASD and 63 age-matched TD children aged 3 to 5 years. We applied singular spectrum analysis (SSA) to the EEG sequences to eliminate noise components and accurately extract the alpha rhythm. RESULTS: When we used individualized alpha peak frequency (iAPF) and individualized alpha absolute power (iABP) as features for a linear support vector machine, ASD versus TD classification accuracy was 92.7%. CONCLUSION: This study suggested that our methods have potential to assist in clinical diagnosis.
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27. Zuckerman KE, Broder-Fingert S, Sheldrick RC. {{To reduce the average age of autism diagnosis, screen preschoolers in primary care}}. {Autism}. 2020: 1362361320968974.
Pediatric primary care providers check for autism signs, usually using a standard checklist, at 18- and 24-month well-child visits. When the checklist shows possible autism, children should be referred for additional treatment and evaluation with an autism specialist. However, many children with autism spectrum disorder are not detected as toddlers. Low-income and minority children are particularly likely to have a late autism spectrum disorder diagnosis. Checking for autism at preschool-aged well-child visits might be one way to identify autism spectrum disorder earlier, especially for low-income and minority children.
