Pubmed du 06/11/22

Pubmed du jour

1. Abouelseoud MO, Saini P, Almuraisi MJ, Khan YS. Short Report. An innovative training programme for families of children and adolescents with Autism Spectrum Disorder in Qatar: Parents as interventionists. Research in developmental disabilities. 2022; 131: 104368.

INTRODUCTION: Previous research has established the association of maladaptive behaviours exhibited by individuals with Autism Spectrum Disorder (ASD) with an increase in the extent of care burden among their caregivers. The mental health needs of caregivers and their effective management, therefore, need to be given due consideration. The main aim of this paper is to reiterate the significance of the role of training programmes for caregivers in enhancing their knowledge and enabling them to manage behavioural challenges with more independence and confidence. METHODS: The aims, structure, and content of the ASD training programme for caregivers implemented by the specialist child and adolescent mental health service, Hamad Medical Corporation, are described. Sixty families have benefited from this initiative so far. A summary of the feedback provided by forty caregivers, all biological parents, is also summarised. RESULTS: The mean score related to knowledge among participants before and after attending the training increased from 3.28 to 4.41. Out of the 40 parents who provided feedback, 27 (67.5%) reported an increase in their understanding of the topic after attendance. CONCLUSION: This initiative consolidates the significance of programmes focusing on enhancing awareness and improving coping among caregivers of children and young people with ASD.

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2. Díaz-Agea JL, Macías-Martínez N, Leal-Costa C, Girón-Poves G, García-Méndez JA, Jiménez-Ruiz I. What can be improved in learning to care for people with autism? A qualitative study based on clinical nursing simulation. Nurse education in practice. 2022; 65: 103488.

AIM/OBJECTIVE: The aim of this study was to identify the main patterns of errors that 4th year nursing students made in simulated clinical practice with scenarios of care for people with Autism Spectrum Disorder (ASD). BACKGROUND: Clinical simulation currently plays a major role in the training of nursing students and provides the participants with the opportunity to practice and develop their clinical sills with a pediatric patient diagnosed with ASD. DESIGN: A retrospective longitudinal qualitative study was performed. METHODS: Content analysis of the existing debriefing records from a period of 7 academic years (2016-2022) was carried out. The scenario was simulated by a standardized patient diagnosed with ASD, with 23 groups of nursing students. RESULTS: The results showed different patterns of errors. These patterns were grouped into 1 main category (weaknesses) and 5 major subcategories: clinical, communication, knowledge about ASD, emotions, and behavior towards parents. The most repeated errors were excessive use of verbal communication, abundant stimuli, low demand for information from primary caregivers, low demand for information about the child’s emotions and interests, and a lack of knowledge of the profile of the child with ASD. CONCLUSION: From the findings of this study, we can highlight the lack of training that students received on the practical approach for providing care to these individuals. It has also been inferred in this study that clinical simulation is a tool that favors reflection and experiential learning for students when they are faced with caring for people with ASD.

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3. Dirix H, Ross V, Brijs K, Bertels L, Alhajyaseen W, Brijs T, Wets G, Spooren A. Autism-friendly public bus transport: A personal experience-based perspective. Autism : the international journal of research and practice. 2022: 13623613221132106.

Transportation plays an essential role in daily life, allowing people to participate in the community and form social relationships. Many autistic people rely on public transportation to meet their mobility needs. However, research shows that it is not always easy for them to use it. The exact issues autistic individuals face when traveling with public transportation and how public transportation can be made more autism-friendly have yet to be researched. The current study allowed autistic individuals to express themselves regarding issues they face while traveling by public bus transportation, to raise awareness for making public transportation more autism-friendly. We interviewed 17 autistic individuals about their experiences riding the bus. Three main themes emerged from the results: creating predictability, limiting stimuli, and open and accessible communication. If transport companies take initiatives related to these themes, autistic people traveling by bus can have a more pleasant experience. Participants also described coping strategies for stressful or uncomfortable situations while using public bus transportation, such as using noise-cancelling headphones or digital applications for real-time route tracking, etc. These findings may lead to a more autism-friendly public transportation.

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4. Enav Y, Knudtson MV, Hardan AY, Gross JJ. Maladaptive behaviors in children with autism and parental hopelessness: The moderating role of parental reflective functioning. Autism research : official journal of the International Society for Autism Research. 2022.

Hopelessness in parents has implications for parents’ own well-being as well as their ability to meet the needs of their children. In the present study, we examined the effect of maladaptive behaviors in children with autism on parental hopelessness, with particular attention to whether parental reflective functioning would moderate the effect of maladaptive behaviors on parental hopelessness. Our sample included 68 parents of children with autism between the ages of 3 and 18. Findings revealed a significant positive relationship between maladaptive behaviors in the children and hopelessness in the parents. Moreover, parental reflective functioning moderated the effect of child maladaptive behaviors on parental hopelessness, such that children’s maladaptive behaviors were positively associated with parental hopelessness in parents with low (but not high) reflective functioning. Findings suggest parental reflective functioning may be a protective factor against parental hopelessness, and thus a possible target for interventions for hopelessness in parents whose children with autism exhibit greater maladaptive behaviors.

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5. Fisher N, Patel H, van Diest C, Spain D. Using eye movement desensitisation and reprocessing (EMDR) with autistic individuals: A qualitative interview study with EMDR therapists. Psychology and psychotherapy. 2022; 95(4): 1071-89.

OBJECTIVES: Eye Movement Desensitisation and Reprocessing (EMDR) is an evidence-based psychological therapy that targets distress associated with trauma and affective disturbance. Few studies have examined EMDR for autistic individuals who have co-occurring mental health conditions, but there is preliminary evidence of effectiveness. The current study explored EMDR therapists’ experiences of working with autistic individuals, and adaptations incorporated into clinical practice to make this more accessible and effective. DESIGN: A qualitative interview design was used. Data were thematically analysed. METHOD: Twenty-three UK-based EMDR therapists attended one-off semi-structured qualitative interviews. RESULTS: Four main themes emerged: (1) the experience of being autistic; (2) factors around accessing EMDR; (3) adapting EMDR; and (4) supervision and support for EMDR therapists. Participants described offering a nuanced and tailored approach; one that retained the integral components of the eight phases of EMDR, while also being flexible and responsive to each client. CONCLUSIONS: Findings reinforce the importance of offering formulation-based psychological therapy that flexes in an evidence-informed way, according to the preferences and needs of autistic individuals. Further research should establish factors influencing accessibility and effectiveness of EMDR for autistic individuals, and the impact of autism-relevant training on the knowledge, skills and confidence of EMDR therapists and clinical supervisors working with this client group.

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6. Galvin J, Richards G. The indirect effect of self-compassion in the association between autistic traits and anxiety/depression: A cross-sectional study in autistic and non-autistic adults. Autism : the international journal of research and practice. 2022: 13623613221132109.

Previous research on non-autistic adults suggests self-compassion may serve to reduce mental health problems and promote psychological well-being. Correlations between autistic traits and self-compassion have been observed in non-clinical populations. In this study, we were interested in extending previous research by exploring relationships between autistic traits, self-compassion and anxiety/depression in autistic adults without intellectual disability. The findings revealed that on average autistic people reported lower self-compassion than non-autistic people. Once we accounted for levels of self-compassion in our statistical model, this resulted in a complete loss of statistical significance in the relationships between autistic traits and anxiety/depression. Self-compassion may be a useful target for clinical intervention in autistic adults with co-occurring mental health difficulties.

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7. Garcia JM, Hahs-Vaughn D, Shurack R. Health behaviors, psychosocial factors, and academic engagement in youth with autism spectrum disorder: A latent class analysis. Autism research : official journal of the International Society for Autism Research. 2022.

The purpose of this study was to identify behavioral and health-related profiles of children with autism spectrum disorder (ASD), based on the 2016 National Survey of Children’s Health. A sample of 894 children with ASD (weighted sample N = 768,181) were included in the analysis. All data were parent-reported and included measures on current diagnosis of ASD, general child health, weight status, physical activity (PA), screen time (ST), sleep duration, academic engagement, and social engagement. Latent class analysis, estimated with Mplus v. 8.4, was used to identify latent profiles of children with ASD. A three-profile solution was the best fitting model, per model fit criteria. Children in profile 1 had overall more positive attributes (better health and weight, PA, more engaged in school, little difficulty in making friends, and modest ST) relative to children in either profiles 2 or 3. Children in profile 2 had distinctly increased ST and more difficulty in making friends when compared with children in either other profile. A greater proportion of children in profiles 2 and 3 were receiving behavioral treatment compared to profile 1; however, no differences were observed among profiles according to ASD severity, medication status, or additional health conditions. Studies should examine causal mechanisms among health behaviors, academic achievement, and social engagement in youth with ASD.

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8. Leung CNW, Leung CSY, Chan RWS, Leung PWL. Can the UK AQ-10 be applicable to Chinese samples with autism spectrum disorder in Hong Kong? Cross-cultural similarities and differences. Autism research : official journal of the International Society for Autism Research. 2022.

The current study aimed at testing and developing alternative short versions of autism spectrum quotient (AQ-10) (adult [self-report], adult [parent-report], adolescent, and child versions) for use in Hong Kong. First, the various versions of AQ-10 developed in the United Kingdom (the AQ-10-UK) were applied to Hong Kong Chinese samples and demonstrated satisfactory discriminative power (AUCs 0.77-0.94). Second, the Hong Kong Chinese versions of AQ-10 (AQ-10-HK) were developed, using the same methodology as in the original UK study. There were some changes in the choice of items and cut-offs. The AQ-10-HK demonstrated slightly greater discriminative power (AUCs 0.88-0.97) to that of the AQ-10-UK, but the differences in AUCs were not statistically significant. Compared to the corresponding full-length versions, both the UK and HK short forms did not seem to lose any significant discriminative power. Yet, the various versions of AQ, be they the full-length or AQ-10, appeared to consistently exhibit slightly smaller AUCs with the Hong Kong Chinese samples than with the UK samples. So, this study found both cross-cultural similarities and differences. The AQ-10-HK was recommended for local practice to maximize the advantage gained. Yet, for international multi-site research collaboration, involving the UK and HK, the original AQ-10-UK can be used for direct comparison of data.

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9. Li L, Wen G, Cao P, Liu X, O RZ, Yang J. Exploring interpretable graph convolutional networks for autism spectrum disorder diagnosis. International journal of computer assisted radiology and surgery. 2022.

PURPOSE: Finding the biomarkers associated with autism spectrum disorder (ASD) is helpful for understanding the underlying roots of the disorder and can lead to earlier diagnosis and more targeted treatments. In essence, we are faced with two challenges (i) how to learn a node representation and a clean graph structure from original graph data with high dimensionality and (ii) how to jointly model the procedure of node representation learning, structure learning and graph classification. METHODS: We propose FSL-BrainNet, an interpretable graph convolution network (GCN) model for jointly Learning of node Features and clean Structures in brain networks for automatic brain network classification and interpretation. We formulate an end-to-end trainable and interpretable framework for graph classification and biomarkers (salient brain regions and potential subnetworks) identification. RESULTS: The experimental results on the ABIDE dataset show that our proposed methods not only achieve improved prediction performance compared with the state-of-the-art methods, but also find a compact set of highly suggestive biomarkers including relevant brain regions and subnetworks to ASD. CONCLUSION: Through node feature learning and structure learning, our model can simultaneously select important brain regions and identify subnetworks.

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10. Linder J, Koplik SE, Kundaje A, Seelig G. Deciphering the impact of genetic variation on human polyadenylation using APARENT2. Genome biology. 2022; 23(1): 232.

BACKGROUND: 3′-end processing by cleavage and polyadenylation is an important and finely tuned regulatory process during mRNA maturation. Numerous genetic variants are known to cause or contribute to human disorders by disrupting the cis-regulatory code of polyadenylation signals. Yet, due to the complexity of this code, variant interpretation remains challenging. RESULTS: We introduce a residual neural network model, APARENT2, that can infer 3′-cleavage and polyadenylation from DNA sequence more accurately than any previous model. This model generalizes to the case of alternative polyadenylation (APA) for a variable number of polyadenylation signals. We demonstrate APARENT2’s performance on several variant datasets, including functional reporter data and human 3′ aQTLs from GTEx. We apply neural network interpretation methods to gain insights into disrupted or protective higher-order features of polyadenylation. We fine-tune APARENT2 on human tissue-resolved transcriptomic data to elucidate tissue-specific variant effects. By combining APARENT2 with models of mRNA stability, we extend aQTL effect size predictions to the entire 3′ untranslated region. Finally, we perform in silico saturation mutagenesis of all human polyadenylation signals and compare the predicted effects of [Formula: see text] million variants against gnomAD. While loss-of-function variants were generally selected against, we also find specific clinical conditions linked to gain-of-function mutations. For example, we detect an association between gain-of-function mutations in the 3′-end and autism spectrum disorder. To experimentally validate APARENT2’s predictions, we assayed clinically relevant variants in multiple cell lines, including microglia-derived cells. CONCLUSIONS: A sequence-to-function model based on deep residual learning enables accurate functional interpretation of genetic variants in polyadenylation signals and, when coupled with large human variation databases, elucidates the link between functional 3′-end mutations and human health.

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11. Sigar P, Uddin LQ, Roy D. Altered global modular organization of intrinsic functional connectivity in autism arises from atypical node-level processing. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by restricted interests and repetitive behaviors as well as social-communication deficits. These traits are associated with atypicality of functional brain networks. Modular organization in the brain plays a crucial role in network stability and adaptability for neurodevelopment. Previous neuroimaging research demonstrates discrepancies in studies of functional brain modular organization in ASD. These discrepancies result from the examination of mixed age groups. Furthermore, recent findings suggest that while much attention has been given to deriving atlases and measuring the connections between nodes, within node information may also be crucial in determining altered modular organization in ASD compared with typical development (TD). However, altered modular organization originating from systematic nodal changes are yet to be explored in younger children with ASD. Here, we used graph-theoretical measures to fill this knowledge gap. To this end, we utilized multicenter resting-state fMRI data collected from 5 to 10-year-old children-34 ASD and 40 TD obtained from the Autism Brain Image Data Exchange (ABIDE) I and II. We demonstrate that alterations in topological roles and modular cohesiveness are the two key properties of brain regions anchored in default mode, sensorimotor, and salience networks, and primarily relate to social and sensory deficits in children with ASD. These results demonstrate that atypical global network organization in children with ASD arises from nodal role changes, and contribute to the growing body of literature suggesting that there is interesting information within nodes providing critical markers of functional brain networks in autistic children.

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12. Wolff N, Kohls G, Mack JT, Vahid A, Elster EM, Stroth S, Poustka L, Kuepper C, Roepke S, Kamp-Becker I, Roessner V. A data driven machine learning approach to differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder based on the best-practice diagnostic instruments for autism. Scientific reports. 2022; 12(1): 18744.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two frequently co-occurring neurodevelopmental conditions that share certain symptomatology, including social difficulties. This presents practitioners with challenging (differential) diagnostic considerations, particularly in clinically more complex cases with co-occurring ASD and ADHD. Therefore, the primary aim of the current study was to apply a data-driven machine learning approach (support vector machine) to determine whether and which items from the best-practice clinical instruments for diagnosing ASD (ADOS, ADI-R) would best differentiate between four groups of individuals referred to specialized ASD clinics (i.e., ASD, ADHD, ASD + ADHD, ND = no diagnosis). We found that a subset of five features from both ADOS (clinical observation) and ADI-R (parental interview) reliably differentiated between ASD groups (ASD & ASD + ADHD) and non-ASD groups (ADHD & ND), and these features corresponded to the social-communication but also restrictive and repetitive behavior domains. In conclusion, the results of the current study support the idea that detecting ASD in individuals with suspected signs of the diagnosis, including those with co-occurring ADHD, is possible with considerably fewer items relative to the original ADOS/2 and ADI-R algorithms (i.e., 92% item reduction) while preserving relatively high diagnostic accuracy. Clinical implications and study limitations are discussed.

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