1. Amorim R, Catarino S, Miragaia P, Ferreras C, Viana V, Guardiano M. {{The impact of COVID-19 on children with autism spectrum disorder}}. {Revista de neurologia}. 2020; 71(8): 285-91.
INTRODUCTION: Children with autism spectrum disorder (ASD) often experience changing routines as a major challenge. For that reason, the need for adaptation during COVID-19 pandemic may have brought major problems to families with children with this pathology. AIM: To explore how children with ASD and their parents experienced the social isolation during COVID-19 outbreak period. SUBJECTS AND METHODS: We conducted an observational, cross-sectional and analytical study. We applied an anonymous questionnaire that included children’s demographic and clinical characteristics, along with the impact of the COVID-19 outbreak in different aspects of family’s daily life. RESULTS: Out of 99 questionnaires obtained, 43 were related to children with ASD and 56 to control group. Children with ASD predominantly had changes in behavior, while children from control group mostly found no changes. The majority of parents of ASD children reported a negative impact in emotion management against those in control group reporting mostly positive or no impact. Caregivers reported higher mean scores of anxiety levels in themselves than in their children. ASD children and their parents had higher levels of anxiety than healthy ones. In the group with ASD, children that did not maintain routines had higher mean levels of anxiety than children that maintained routines. CONCLUSION: Our results show a potential important psychological impact of the COVID-19 pandemic not only in children with neurodevelopmental disorders but in their caregivers as well. Physicians must be prepared for the post-pandemic surveillance of mental disorders among families.
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2. Bernie C, Williams K, O’Connor B, Rogers S, May T. {{Referral, Assessment and Use of Screening Measures Related to Autism Spectrum Disorder at a Tertiary Hospital Setting}}. {J Autism Dev Disord}. 2020.
Children with developmental concerns in Australia continue to experience inequitable healthcare and service-related delays, even when diagnostic risk is identified. This study sought to explore service and demographic pathway factors leading up to autism spectrum disorder (ASD) assessment, including value of screening measures applied at triage. Following a trial of centralised intake for referred young children with suspected ASD, observational, retrospective pathway data was explored using bivariate and regression analyses. The mean age of 159 children referred with autism symptoms was 3.6 years, and 64% were diagnosed with ASD. Service allocation was associated with diagnosis, whilst screening tool results were not. Improved pathways are needed to limit wasted waiting times and direct each child to needs-based services.
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3. Cervantes PE, Matheis M, Estabillo J, Seag DEM, Nelson KL, Peth-Pierce R, Hoagwood KE, Horwitz SM. {{Trends Over a Decade in NIH Funding for Autism Spectrum Disorder Services Research}}. {J Autism Dev Disord}. 2020.
Investments in autism spectrum disorder (ASD) research, guided by the Interagency Autism Coordinating Committee (IACC), have focused disproportionately on etiology over a well-established stakeholder priority area: research to improve accessibility and quality of community-based services. This study analyzed National Institutes of Health ASD services research funding from 2008 to 2018 to examine funding patterns, evaluate the impact of IACC objectives, and identify future directions. Approximately 9% of total funds were allocated to services research. This investment remained relatively stable across time and lacked diversity across domains (e.g., area of focus, ages sampled, implementation strategies used). While advancements were observed, including increased prevalence of projects focused on adult samples and on dissemination/implementation and prevention areas, greater investment in service research is critically needed.
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4. Chen S, Wang J, Cicek E, Roeder K, Yu H, Devlin B. {{De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types}}. {Mol Autism}. 2020; 11(1): 76.
BACKGROUND: Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association signal primarily arises from de novo protein-truncating variants, as opposed to the more common missense variants. Despite their commonness in humans, determining which missense variants affect phenotypes and how remains a challenge. We investigate the functional relevance of de novo missense variants, specifically whether they are likely to disrupt protein interactions, and nominate novel genes in risk for ASD through integrated genomic, transcriptomic, and proteomic analyses. METHODS: Utilizing our previous interactome perturbation predictor, we identify a set of missense variants that are likely disruptive to protein-protein interactions. For genes encoding the disrupted interactions, we evaluate their expression patterns across developing brains and within specific cell types, using both bulk and inferred cell-type-specific brain transcriptomes. Connecting all disrupted pairs of proteins, we construct an « ASD disrupted network. » Finally, we integrate protein interactions and cell-type-specific co-expression networks together with published association data to implicate novel genes in ASD risk in a cell-type-specific manner. RESULTS: Extending earlier work, we show that de novo missense variants that disrupt protein interactions are enriched in individuals with ASD, often affecting hub proteins and disrupting hub interactions. Genes encoding disrupted complementary interactors tend to be risk genes, and an interaction network built from these proteins is enriched for ASD proteins. Consistent with other studies, genes identified by disrupted protein interactions are expressed early in development and in excitatory and inhibitory neuronal lineages. Using inferred gene co-expression for three neuronal cell types-excitatory, inhibitory, and neural progenitor-we implicate several hundred genes in risk (FDR [Formula: see text]0.05), ~ 60% novel, with characteristics of genuine ASD genes. Across cell types, these genes affect neuronal morphogenesis and neuronal communication, while neural progenitor cells show strong enrichment for development of the limbic system. LIMITATIONS: Some analyses use the imperfect guilt-by-association principle; results are statistical, not functional. CONCLUSIONS: Disrupted protein interactions identify gene sets involved in risk for ASD. Their gene expression during brain development and within cell types highlights how they relate to ASD.
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5. Columna L, Felizola G, Prieto L, Myers B, Streete D, Lightburn A. {{The experiences of Hispanic families of children with autism spectrum disorder regarding physical activity}}. {Res Dev Disabil}. 2020; 107: 103785.
BACKGROUND: Researchers seldom focus on the services needed for Hispanic children with ASD, especially in regard to physical activity (PA). PURPOSE: The purpose of this study was: (a) to explore why Hispanic families with children with ASD seek out and participate in PA, and (b) to describe the strategies and supports needed by Hispanic families of children with ASD to improve PA participation. METHODS: Participants in this descriptive-qualitative study were Hispanic parents of children with ASD (n = 9) who participated in one-on-one semi-structured telephone interviews. Interviews were transcribed and then analyzed using thematic line-by-line analysis. RESULTS: Two major themes emerged from the data: 1) Personal Responsibility and 2) « Every Day is a Different Challenge ». Parents were motivated to engage in PA because of perceived health benefits for themselves and their children. Parents faced famililal and external barriers that impacted their participation. Participants commented on the role of culture (e.g., customs, lack of family support after immigration) in the context of these barriers. IMPLICATIONS: Further research is needed regarding culturally responsive PA interventions for Hispanic families with children with ASD.
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6. Hirota T, McElroy E, So R. {{Network Analysis of Internet Addiction Symptoms Among a Clinical Sample of Japanese Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
In the present study, we employed network analysis that conceptualizes internet addiction (IA) as a complex network of mutually influencing symptoms in 108 adolescents with autism spectrum disorder (ASD) to examine the network architecture of IA symptoms and identify central/influential symptoms. Our analysis revealed that defensive and secretive behaviors and concealment of internet use were identified as central symptoms in this population, suggesting that mitigating these symptoms potentially prevent the development and/or maintenance of IA in adolescents with ASD. Providing adolescents and their caregivers with psychoeducation on the role of central symptoms above in IA can be a salient intervention. Doing so may facilitate nonconflicting conversations between them about adolescents’ internet use and promote more healthy adolescents’ internet use behavior.
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7. Martin CA, Sciberras E, Papadopoulos N, Engel L, Hiscock H, Williams K, Howlin P, McGillivray J, Rinehart NJ. {{Associations Between Child Sleep Problem Severity and Maternal Well-Being in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
This study investigated whether sleep problem severity in children with autism spectrum disorder was associated with maternal well-being. Mothers of 234 children reported on their mental health (Kessler Psychological Distress Scale), parenting stress (Parenting Stress Index-4-SF), health-related quality of life (HRQoL; Assessment of Quality of Life-4D) and their child’s sleep (Children’s Sleep Habits Questionnaire-ASD). Analyses revealed sleep initiation and duration problem severity scores were associated with increased mental health difficulties. Specific child sleep problems were not associated with parenting stress or HRQoL. This study revealed the importance of considering sleep and the family system when assessing maternal well-being. Future research considering parent, child and family factors will be important to informing a family focused approach to mental health.
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8. Martinot M, Giacobi C, De Stefano C, Rezzoug D, Baubet T, Klein A. {{Âge au diagnostic de trouble du spectre autistique en fonction de l’appartenance à une minorité ethnoculturelle ou du statut migratoire, une revue de la littérature systématisée}}. {L’Encephale}. 2020.
INTRODUCTION: The early identification and access to health care of toddlers with autism spectrum disorder (ASD) – or at risk of developing it – is a crucial public health issue, as care and intervention may be more effective in younger children in order to improve their development and prognosis. However, there are still disparities in identification and health care access for children with ASD despite better screening methods. Given that misdiagnosis and delayed diagnosis are often due to the cultural gap between clinician and patient in some psychiatric disorders such as depression or schizophrenia, we examined this question concerning ASD and wondered to what extent ethno-cultural or migratory status might have an impact on the age at which a child is diagnosed. The only published review looking for independent factors influencing age of diagnosis concludes that the factors that have been proved to play a role are: socioeconomic status; symptom severity; level of parental concern, and family interactions with the health and education systems prior to diagnosis. The impact of ethno-cultural or migratory status is less clear. And yet, all these factors may be interconnected: migrants have on average a lower socioeconomic status, minorities don’t have the same access to health care, and cultural background can have an influence on what is expected of a child’s development and health. In order to try and clarify this issue and to analyze the way in which the international literature approaches the subject, we carried out a systematic review. METHOD: Six databases were interrogated: Pubmed, Embase, Psychinfo, WebOfScience, Cochrane and Cinahl using the key words « ASD », « pervasive developmental disorder », « diagnosis », « age », « migrant », « ethnicity », « cross cultural ». We narrowed neither the period of time not selected the articles by their method, as our objective was to collect the entirety of the articles written on the subject. We completed this review by including the pertinent references made in the articles. RESULTS: Twenty articles were included, all epidemiological and observational, about children diagnosed in specialized centers. Published between 2002 and 2019, they cover a 20-year research period, between 1992 and 2016. The methods are disparate: the diagnosis criteria used are from DSM IV, IV TR and ICD; data originate from medical records, phone or internet surveys, and Medicaid healthcare claims. Comparison of the age at diagnosis is the principal objective for only thirteen studies; statistical data analyses vary, especially concerning adjustments. Seventy-five percent of the articles originate from North America where the compared populations are defined by ethnic and racial categories that are not used in some other countries, notably in Europe. Only five explore the link between migratory status and age at diagnosis. The research results concerning the impact of ethnicity are contradictory, while those concerning migratory status seem to indicate that migrant children are likely to be diagnosed later. But the articles and their methods being too heterogeneous, it was difficult to make a meta-analysis and impossible to reach a scientific conclusion. CONCLUSION: Nevertheless, this review highlights the existence of a lot of confounding factors and raises many issues. It shows that the United States produces most of the studies whose conclusions cannot be generalized because of the particular history and organization of this country. In Europe, where belonging to minority groups is thought to be through migratory status, studies are rare. There is an urgent need for new research in order to clarify the connection between migratory status and socioeconomic factors, to precisely define the independent variables influencing diagnosis -such as access to healthcare- and finally to explore the possibility of different symptomatic expressions depending on cultural backgrounds. This review falls within studies currently carried out by the psychiatric service at Avicenne hospital in Bobigny, France about ASD in a transcultural context.
Publisher: Abstract available from the publisher.
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9. Nowell KP, Bernardin CJ, Brown C, Kanne S. {{Characterization of Special Interests in Autism Spectrum Disorder: A Brief Review and Pilot Study Using the Special Interests Survey}}. {J Autism Dev Disord}. 2020.
Special interests (SIs) are part of the diagnostic criteria for autism spectrum disorder (ASD). Though they can have both positive and negative effects on functioning and long-term outcomes, research on SIs is limited. This pilot study used a newly developed parent-report measure, the Special Interest Survey, to characterize SIs in 1992 children with ASD. The mean number of current special interests reported was 9, with television, objects, and music being most commonly endorsed interests. The mean age of onset reported across all categories was 5.24 years, with duration of past interests most often exceeding 2 years. Age of onset, interference, and relative unusualness of the SI was varied across categories. Interference was significantly correlated with the unusualness of the SIs.
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10. Simmons GL, Ioannou S, Smith JV, Corbett BA, Lerner MD, White SW. {{Utility of an Observational Social Skill Assessment as a Measure of Social Cognition in Autism}}. {Autism Res}. 2020.
Models of impaired social competence in autism spectrum disorder (ASD) highlight deficits in social cognition and social behavior. The Contextual Assessment of Social Skills (CASS) is a laboratory-based assessment of conversation ability in which participants interact with trained confederates who act interested (CASS-I) and bored (CASS-B), sequentially. The increased ecological validity of the CASS allows for better generalization to real-world social situations. Participants’ perceptions of confederate behavior, assessed by the CASS Conversation Rating Scale (CRS), might offer additional utility as a metric of social cognition. The current study examined CASS confederate behavior (adherence to interested or bored condition) and both internal validity and convergent validity of the CASS as a measure of social behavior and social cognition. Fifty adolescents with ASD participated as part of a multisite randomized clinical trial. Adherence ratings were consistent across gender and site, with interested confederates significantly out-performing bored confederates. The ability to distinguish between interested and bored confederates was positively associated with CASS social behavior and social cognition tasks, although social behavior during the CASS was not consistently associated with parent-rated social behavior. Controlling for confederate behavior did not significantly alter these associations. Findings demonstrate strong internal validity of the CASS and, partially, external validity of the CASS as a measure of social cognition. Findings highlight nuanced differences in social behavior and social cognition. The CASS shows promise as an outcome measure for clinical interventions and should be incorporated into a multimethod battery to assess social competence in individuals with ASD. LAY SUMMARY: Social cognition and social behavior should be studied together to examine social competence in youth with autism. The Contextual Assessment of Social Skills (CASS), a behavioral observation measure, shows promise toward this end; findings suggest the CASS taps social cognition and social behavior when administered alongside a participant rating scale of their conversation partner’s engagement. Continued research, including examination of the CASS, may inform best practices in comprehensive assessment of social competence in autism.
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11. Wang J, Zheng B, Zhou D, Xing J, Li H, Li J, Zhang Z, Zhang B, Li P. {{Supplementation of Diet With Different n-3/n-6 PUFA Ratios Ameliorates Autistic Behavior, Reduces Serotonin, and Improves Intestinal Barrier Impairments in a Valproic Acid Rat Model of Autism}}. {Frontiers in psychiatry}. 2020; 11: 552345.
The implication of different dietary n-3/n-6 polyunsaturated fatty acids (PUFAs) ratios has been investigated in some neurodevelopmental disorders (including autism and depression). However, the mechanisms underlying the effects of different PUFAs ratios on the autism are still poorly understood. In the present study, a valproic acid (VPA) rat model of autism was used to study the effects of diet with different n-3/n-6 PUFA ratios on the autism, and the underlying mechanisms explored. Our results showed that rats with prenatal administration of VPA took less response time to sniff three odorants in the olfactory habituation/dishabituation tests, had lower frequency of pinning and following patterns, and had decreased hippocampal 5-hydroxytryptamine (5-HT), increased serum 5-HT and downregulated expression of tight junction protein (occludin and claudin-1) in the colon. However, supplementation of n-3/n-6 PUFAs (1:5) in the VPA treated rats ameliorated the autistic behaviors, increased hippocampal 5-HT and tight junction expression in the colon, and decreased serum 5-HT. In conclusion, dietary supplementation of n-3/n-6 PUFAs (1:5) significantly improves VPA-induced autism-like behaviors in rats, which may be, at least partially, related to the increased hippocampal 5-HT. Furthermore, this diet can increase the expression of tight junction proteins to improve intestinal barrier impairment.
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12. Yuk V, Urbain C, Anagnostou E, Taylor MJ. {{Frontoparietal Network Connectivity During an N-Back Task in Adults With Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2020; 11: 551808.
BACKGROUND: Short-term and working memory (STM and WM) deficits have been demonstrated in individuals with autism spectrum disorder (ASD) and may emerge through atypical functional activity and connectivity of the frontoparietal network, which exerts top-down control necessary for successful STM and WM processes. Little is known regarding the spectral properties of the frontoparietal network during STM or WM processes in ASD, although certain neural frequencies have been linked to specific neural mechanisms. METHODS: We analysed magnetoencephalographic data from 39 control adults (26 males; 27.15 ± 5.91 years old) and 40 adults with ASD (26 males; 27.17 ± 6.27 years old) during a 1-back condition (STM) of an n-back task, and from a subset of this sample during a 2-back condition (WM). We performed seed-based connectivity analyses using regions of the frontoparietal network. Interregional synchrony in theta, alpha, and beta bands was assessed with the phase difference derivative and compared between groups during periods of maintenance and recognition. RESULTS: During maintenance of newly presented vs. repeated stimuli, the two groups did not differ significantly in theta, alpha, or beta phase synchrony for either condition. Adults with ASD showed alpha-band synchrony in a network containing the right dorsolateral prefrontal cortex, bilateral inferior parietal lobules (IPL), and precuneus in both 1- and 2-back tasks, whereas controls demonstrated alpha-band synchrony in a sparser set of regions, including the left insula and IPL, in only the 1-back task. During recognition of repeated vs. newly presented stimuli, adults with ASD exhibited decreased theta-band connectivity compared to controls in a network with hubs in the right inferior frontal gyrus and left IPL in the 1-back condition. Whilst there were no group differences in connectivity in the 2-back condition, adults with ASD showed no frontoparietal network recruitment during recognition, whilst controls activated networks in the theta and beta bands. CONCLUSIONS: Our findings suggest that since adults with ASD performed well on the n-back task, their appropriate, but effortful recruitment of alpha-band mechanisms in the frontoparietal network to maintain items in STM and WM may compensate for atypical modulation of this network in the theta band to recognise previously presented items in STM.
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13. Zhou HY, Yang HX, Cui XL, Shi LJ, Gong JB, Lui SSY, Cheung EFC, Watanabe K, Chan RCK. {{Self-reported sensory responsiveness patterns in typically-developing and early-onset schizophrenia adolescents: Its relationship with schizotypal and autistic traits}}. {Journal of psychiatric research}. 2020; 131: 255-62.
Altered behavioural responses to sensory stimuli, including both hypo- and hyper-reactivity, have been found in individuals with schizophrenia. However, how specific sensory responsiveness patterns are associated with symptomatology of schizophrenia remains largely unknown. The present study aimed to examine sensory responsiveness in typically-developing (TD) adolescents (n = 98) and adolescents with early-onset schizophrenia (EOS) (n = 29) and investigate the relationship between schizotypal traits and sensory responsiveness patterns. All participants completed the Adult/Adolescent Sensory Profile (AASP), the Schizotypal Personality Questionnaire (SPQ) and the Autism Spectrum Quotient (AQ). Results showed that higher levels of hypersensitivity and hyposensitivity coexisted in EOS patients and were correlated with positive and negative symptoms of schizophrenia. Atypical sensory experiences except for sensory seeking were found to be positively correlated with higher levels of schizotypal traits regardless of diagnostic status. Moreover, the strength and pattern of such correlations were comparable in both EOS and TD groups. This study also provided evidence that higher levels of autistic traits would intensify the positive correlation between schizotypal traits and sensory responsiveness abnormalities, suggesting an additive effect of co-occurring schizotypal and autistic traits on atypical sensory experiences. These findings extend previous research by depicting sensory responsiveness patterns in younger populations with schizophrenia, and may have implications for future development of sensory-related interventions in clinical settings.
