1. Abedinzadeh Torghabeh F, Modaresnia Y, Moattar MH. Hybrid deep transfer learning-based early diagnosis of autism spectrum disorder using scalogram representation of electroencephalography signals. Medical & biological engineering & computing. 2023.

Early diagnosis of autism spectrum disorder (ASD) plays an important role in the rehabilitation of the patient. This goal necessitates higher-level pattern representation and a strong modeling approach. The proposed approach applies scalogram images of electroencephalography signals for the first purpose and a two-level deep learning architecture for better classification. Scalogram images embed both the temporal and spectral information of the signal. On the other hand, the hybrid deep learning hierarchy of convolutional neural network followed by long short-term memory models both spatial and temporal information of the scalogram image. The approach is evaluated on a dataset of 34 ASD samples and 11 normal cases in without-voice and with-voice conditions. To validate the early diagnosis hypothesis, signals from children older than 5 years are used as the training set, and signals from younger subjects are used as the validation set. The proposed method achieves excellent performance of 99.50% and 98.43% for automatically detecting ASD with and without voice, respectively. This classification performance is higher than most recent reported approaches, and the results show the effectiveness of the approach in early diagnosis of ASD and demonstrate the auditory impact on the diagnosis of autism.

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2. Alharthi AG, Alzahrani SM. Do it the transformer way: A comprehensive review of brain and vision transformers for autism spectrum disorder diagnosis and classification. Computers in biology and medicine. 2023; 167: 107667.

Autism spectrum disorder (ASD) is a condition observed in children who display abnormal patterns of interaction, behavior, and communication with others. Despite extensive research efforts, the underlying causes of this neurodevelopmental disorder and its biomarkers remain unknown. However, advancements in artificial intelligence and machine learning have improved clinicians’ ability to diagnose ASD. This review paper investigates various MRI modalities to identify distinct features that characterize individuals with ASD compared to typical control subjects. The review then moves on to explore deep learning models for ASD diagnosis, including convolutional neural networks (CNNs), autoencoders, graph convolutions, attention networks, and other models. CNNs and their variations are particularly effective due to their capacity to learn structured image representations and identify reliable biomarkers for brain disorders. Computer vision transformers often employ CNN architectures with transfer learning techniques like fine-tuning and layer freezing to enhance image classification performance, surpassing traditional machine learning models. This review paper contributes in three main ways. Firstly, it provides a comprehensive overview of a recommended architecture for using vision transformers in the systematic ASD diagnostic process. To this end, the paper investigates various pre-trained vision architectures such as VGG, ResNet, Inception, InceptionResNet, DenseNet, and Swin models that were fine-tuned for ASD diagnosis and classification. Secondly, it discusses the vision transformers of 2020th like BiT, ViT, MobileViT, and ConvNeXt, and applying transfer learning methods in relation to their prospective practicality in ASD classification. Thirdly, it explores brain transformers that are pre-trained on medically rich data and MRI neuroimaging datasets. The paper recommends a systematic architecture for ASD diagnosis using brain transformers. It also reviews recently developed brain transformer-based models, such as METAFormer, Com-BrainTF, Brain Network, ST-Transformer, STCAL, BolT, and BrainFormer, discussing their deep transfer learning architectures and results in ASD detection. Additionally, the paper summarizes and discusses brain-related transformers for various brain disorders, such as MSGTN, STAGIN, and MedTransformer, in relation to their potential usefulness in ASD. The study suggests that developing specialized transformer-based models, following the success of natural language processing (NLP), can offer new directions for image classification problems in ASD brain biomarkers learning and classification. By incorporating the attention mechanism, treating MRI modalities as sequence prediction tasks trained on brain disorder classification problems, and fine-tuned on ASD datasets, brain transformers can show a great promise in ASD diagnosis.

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3. Bogatova D, Smirnakis SM, Palagina G. Tug-of-peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 duplication Syndrome of Autism. eNeuro. 2023.

Extracting common patterns of neural circuit computations in the autism spectrum and confirming them as a cause of specific core traits of autism is the first step towards identifying cell- and circuit-level targets for effective clinical intervention. Studies in humans with autism have identified functional links and common anatomical substrates between core restricted behavioral repertoire, cognitive rigidity, and over-stability of visual percepts during visual rivalry. To study these processes with single-cell precision and comprehensive neuronal population coverage, we developed the visual bi-stable perception paradigm for mice based on ambiguous moving plaid patterns consisting of two transparent gratings drifting at an angle of 120°. This results in spontaneous reversals of the perception between local component motion (plaid perceived as two separate moving grating components) and integrated global pattern motion (plaid perceived as a fused moving texture). This robust paradigm doesn’t depend on the explicit report of the mouse, since the direction of the optokinetic nystagmus (OKN) is used to infer the dominant percept. Using this paradigm, we found that the rate of perceptual reversals between global and local motion interpretations is reduced in the methyl-CpG binding protein 2 duplication syndrome (MECP2-ds) mouse model of autism. Moreover, the stability of local motion percepts is greatly increased in MECP2-ds mice at the expense of global motion percepts. Thus, our model reproduces a subclass of the core features in human autism (reduced rate of visual rivalry and atypical perception of visual motion). This further offers a well-controlled approach for dissecting neuronal circuits underlying these core features.Significance StatementAutism is a disorder of distributed computations, spanning low-level sensation and high-level sensorimotor integration, decision-making and social cognition. A distributed computation involving both low-level sensory and high-level executive processes, visual rivalry represents a potential candidate approach for the study of autism. We developed and applied the monocular rivalry paradigm based on competition between local and global visual motion in the mouse model of monogenic autism – MECP2 duplication syndrome. MECP2 duplication mice show slowed visual rivalry and favor local over global motion interpretation of the stimulus. This recapitulates the phenotype of human idiopathic autism and offers a way to dissect the circuit of altered visual motion processing and visual rivalry in autism using mouse models of autism.

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4. Cheng Y, Lu JW, Wang JH, Loh CH, Chen TL. Associations of atopic dermatitis with attention deficit/hyperactivity disorder and autism spectrum disorder: a systematic review and meta-analysis. Dermatology (Basel, Switzerland). 2023.

BACKGROUND: Atopic dermatitis (AD) shares similarities with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) regarding pathogenesis involving inflammation and genetics. Nevertheless, evidence on the associations of AD with ADHD and/or ASD is inconclusive. This study aimed to systematically examine the existing evidence on the associations between AD, ADHD, and ASD. METHODS: The Meta-analysis of Observational Studies in Epidemiology guideline was followed. We searched MEDLINE, Embase, Cochrane Library, and Web of Science databases from their respective inceptions through February 4, 2022. Observational studies providing adjusted estimates and/or prevalences for ADHD and ASD in patients with AD were enrolled. A random-effects model meta-analysis was conducted to calculate pooled odds ratios (ORs) and confidence intervals (CIs). Subgroup analyses according to AD severity, age, geographic location, and study design were performed. RESULTS: Overall, a total of 24 studies with 71,373,639 subjects were enrolled. Our meta-analysis demonstrated significant associations of AD with ADHD (pooled OR, 1.28; 95% CI, 1.18-1.40) and ASD (pooled OR, 1.87; 95% CI, 1.30-2.68). Subgroup analyses revealed that the associations for ADHD were most prominent in studies evaluating severe AD patients as well as in studies focusing on school-age children and adolescents. Among patients with AD, the pooled prevalence of ADHD was 6.6% and the respective prevalence of ASD was 1.6%. CONCLUSION: The evidence to date suggests significant associations of AD with ADHD and ASD. Psychiatric consultation and an interdisciplinary approach would benefit patients with AD presented with behavioral symptoms suggestive of ADHD or ASD.

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5. Dastamooz S, Tham CCY, Yam JCS, Li M, Wong SHS, Sit CHP. A systematic review and meta-analysis on the ocular characteristics in children and adolescents with neurodevelopmental disorders. Scientific reports. 2023; 13(1): 19397.

To conduct a systematic review and meta-analysis of the association between children and adolescents with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) and ocular characteristics. Systematic review with meta-analysis. Six databases (PubMed, Scopus, APA PsycInfo, Embase, EBSCOhost, and Cochrane library) were selected for a systematic literature search from database inception to July 2022. The observational studies assessing and reporting at least one outcome regarding ocular characteristics in children and adolescents with ADHD or ASD aged 6-17 were included. Studies in languages other than English, studies of adult or elderly human populations, and animal studies were excluded. The results were analyzed following the PRISMA guideline 2020. The findings of 15 studies, including 433 participants with ADHD, 253 participants with ASD, and 514 participants with typical development (TD), revealed that there were no significant differences in retinal nerve fiber layer, ganglion cell complex, and macular thickness between the ADHD group and the TD group. In subgroup analysis, significant differences in inferior ganglion cell (MD = - 3.19; 95% CI = [- 6.06, - 0.31], p = 0.03) and nasal macular thickness (MD = 5.88; 95% CI = [- 0.01, 11.76], p = 0.05) were detected between the ADHD group and the TD group. A significant difference in pupillary light reflex (PLR) was also observed between the ASD group and the TD group (MD = 29.7; 95% CI = [18.79, 40.63], p < 0.001). Existing evidence suggests a possible association between children and adolescents with ADHD or ASD and ocular characteristics. Given the limited number of studies, further research on a larger cohort is necessary to claim a possible diagnosis of ADHD or ASD through ocular characteristics.

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6. Fernandes AC, Souto DO, de Sousa Junior RR, Clutterbuck GL, Wright FV, de Souza MG, Ferreira LFB, Cardoso Rodrigues AA, Camargos ACR, Leite HR. Sports Stars Brazil in children with autism spectrum disorder: A feasibility randomized controlled trial protocol. PloS one. 2023; 18(11): e0291488.

BACKGROUND: Autism Spectrum Disorder (ASD) children have lower levels of participation in recreational and sporting activities when compared to their peers. Participation has been defined based on the Family of Participation-Related Constructs (fPRC) which defines participation as including both attendance and involvement, with sense of self, preferences and activity competence related to a child’s participation. Modified sports interventions such as Sports Stars can act on physical literacy and some of the fPRCs components. This study aims to assess the feasibility of the Sports Stars Brazil intervention for children with ASD. METHODS: This study will be conducted with 36 participants with ASD aged 6 to 12 years old following the CONSORT for pilot and feasibility recommendation. Participants will be randomly allocated into two groups. Intervention group will receive eight, weekly Sports Stars sessions. Each session will include of sports-focused gross motor activity training, confidence building, sports-education and teamwork development. Study assessments will occur at baseline, immediately post-intervention and 20-weeks post-randomization. First, we will assess process feasibility measures: recruitment, assessment completion, adherence, adverse events and satisfaction. Second, we will investigate the scientific feasibility of the intervention by estimating the effect size and variance at the level of achievement sports-related activity and physical activity participation goals (Goal Attainment Scaling), activity competence (Ignite Challenge, Test of Gross Motor Development-second edition, Physical Literacy Profile Questionnaire, Pediatric Disability Assessment Inventory-Computer Adaptive Test-PEDI-CAT-mobility, 10×5 Sprint Test and Muscle Power Sprint Test), sense of self (PEDI-CAT-responsibility), and overall participation at home, school and community, (Participation and Environment Measure for children and young people, PEM-CY). DISCUSSION: The results of this feasibility study will inform which components are critical to planning and preparing a future RCT study, aiming to ensure that the RCT will be feasible, rigorous and justifiable. TRIAL REGISTRATION: The trial was registered with the Brazilian Registry of Clinical Trials database (ID: RBR-9d5kyq4) on June 15, 2022.

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7. Ge H, Lee AKL, Yuen HK, Liu F, Yip V. Bilingual exposure might enhance L1 development in Cantonese-English bilingual autistic children: Evidence from the production of focus. Autism : the international journal of research and practice. 2023: 13623613231207449.

It is commonly believed among professionals and parents that exposure to two languages imposes an additional burden on children with autism spectrum disorder. However, there is a lack of empirical evidence to support or reject this belief. With the prevalence of autism and an increasing number of children growing up bilingual, it is urgent to understand how bilingual exposure interacts with autism. Bilingual autistic children from Hong Kong, with Cantonese as their first language and English as their second language, took part in the study. We used a production game to test how bilingual autistic children use different levels of linguistic knowledge to produce contrastive information in real conversations, compared to their monolingual autistic peers and typically developing children matched in language abilities, nonverbal IQ, working memory and maternal education. We found that bilingual autistic children performed as good as typically developing children in general, and they even performed better than monolingual autistic children. Our findings suggest a bilingual advantage in autistic children in conveying constative information in sentences. We thus encourage parents to engage their children in rich bilingual environments. Clinicians, educators and other professionals may also consider adding bilingual aspects in training programmes to support families raising bilingual autistic children.

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8. Halepoto DM, Al-Ayadhi LY, Alhowikan AM, Elamin NE. Role of autoimmunity in Neuronal damage in children with Autism spectrum disorder. Pakistan journal of medical sciences. 2023; 39(6): 1858-64.

« Autism spectrum disorder (ASD) is complex neurodevelopmental disorder characterized by impairments in three core behavioral: social deficits, impaired communication, and repetitive behaviors. » There is developing indication and emerging data that irregular autoimmune responses to the central nervous system may play a pathogenic role in patients with autism spectrum disorder. » The aim of this review was to discuss the updated research carried out at Autism research and treatment center, King Saud University, Riyadh, Kingdom of Saudi Arabia particularly on the role of autoimmunity in Autism spectrum disorder. This review also present state of information available about the role of autoimmunity biomarkers involved in the neuronal damage of central nervous system in autistic children. The systematic literature search was carried out using Google Scholar, Science direct and PubMed databases on the role of autoimmunity in autism and reviewed all relevant articles published in peer reviewed journals by Autism research and treatment center, King Saud University, Riyadh, Kingdom of Saudi Arabia till April, 2022. We searched relevant articles using key words Autism spectrum disorder, Autoimmunity, Neuroinflamation and Central nervous system. This review revealed that plasma levels of autoimmunity related factors/ markers were altered in patients with autism. Significant change in blood markers in subjects with ASD may resulted in several years of decreased neutrotrophic support along with increasing impairment in relationship with down-regulated inflammation that may play a role in the ASD. Overall, the role of autoimmunity in ASD subjects with excess of anti-brain antibodies suggest that in some patients, autoantibodies that target the CNS may be pathological factor in neuronal growth in autistic children. Large cohort studies with well-defined and specially pheno typed autistic groups and matched healthy controls are required to examine the role of autoantibodies in the pathology of subjects with ASD.

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9. Imre Z, Prickett C, Sapp L, Ferguson B, Nowell K, Mohrland M. Memory performance on the ChAMP in autism spectrum disorder with and without attention-deficit/hyperactivity disorder. Applied neuropsychology Child. 2023: 1-11.

Memory difficulties have been identified in youth with neurodevelopmental conditions including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The Child and Adolescent Memory Profile (ChAMP) is a newer memory measure with a burgeoning research base. This study seeks to explore memory performance on the Lists and Objects subtests of the ChAMP in a clinical sample of those with ASD with/without co-occurring ADHD. Participants were 146 youth referred for a neuropsychological evaluation (M age = 11.8 years; 76.03% male) diagnosed with ASD (N = 92 with ADHD, N = 54 without). Logistic regression (p = .393) indicated ChAMP performance is not predictive of whether the ASD group had co-occurring ADHD indicating there is no additive effect on memory. Compared to the ChAMP examiner’s manual ASD sample, this study sample performed significantly better (p <.001) on all ChAMP measures. While the ChAMP is sensitive to memory difficulties in neurodevelopmental disorders, as indicated by the performance of the manual sample, the ASD sample of the manual may differ from other ASD samples. There were no differences between verbal and visual memory performance across the present study's sample.

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10. Jang H, Chen J, Iakoucheva LM, Nussinov R. Cancer and Autism: How PTEN Mutations Degrade Function at the Membrane and Isoform Expression in the Human Brain. Journal of molecular biology. 2023: 168354.

Mutations causing loss of PTEN lipid phosphatase activity can promote cancer, benign tumors (PHTS), and neurodevelopmental disorders (NDDs). Exactly how they preferentially trigger distinct phenotypic outcomes has been puzzling. Here, we demonstrate that PTEN mutations differentially allosterically bias P loop dynamics and its connection to the catalytic site, affecting catalytic activity. NDD-related mutations are likely to sample conformations of the functional wild-type state, while sampled conformations for the strong, cancer-related driver mutation hotspots favor catalysis-primed conformations, suggesting that NDD mutations are likely to be weaker, and our large-scale simulations show why. Prenatal PTEN isoform expression data suggest exons 5 and 7, which harbor NDD mutations, as cancer-risk carriers. Since cancer requires more than a single mutation, our conformational and genomic analysis helps discover how same protein mutations can foster different clinical manifestations, articulates a role for co-occurring background latent driver mutations, and uncovers relationships of splicing isoform expression to life expectancy.

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11. Kundu K, Maharjan S, Saini LK, Gupta R. Sleep architecture is associated with core symptom severity in autism spectrum disorder: a few methodological observations. Sleep. 2023; 46(11).

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12. Mohan K, Omar BJ, Chacham S, Bharti A. Perinatal Exposure to Trace Elements: The Dubious Culprit of Autistic Spectrum Disorder in Children. Current pediatric reviews. 2023.

There is evidence that few trace elements in the environment work as hazardous materials in terms of their exposure in the perinatal period, causing autistic spectrum disorder (ASD) in children, and avoiding these exposures in the environment can reduce the number of new cases. This perspective study provides preliminary evidence to consider a few trace elements as culprits for ASD. More studies with larger cohorts are needed, but meanwhile, as per available evidence, exposure to these hazardous materials must be warranted during pregnancy and early stages of life.

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13. Power SD, Stewart E, Zielke LG, Byrne EP, Douglas A, Ortega-de San Luis C, Lynch L, Ryan TJ. Immune activation state modulates infant engram expression across development. Science advances. 2023; 9(45): eadg9921.

Infantile amnesia is possibly the most ubiquitous form of memory loss in mammals. We investigated how memories are stored in the brain throughout development by integrating engram labeling technology with mouse models of infantile amnesia. Here, we found a phenomenon in which male offspring in maternal immune activation models of autism spectrum disorder do not experience infantile amnesia. Maternal immune activation altered engram ensemble size and dendritic spine plasticity. We rescued the same apparently forgotten infantile memories in neurotypical mice by optogenetically reactivating dentate gyrus engram cells labeled during complex experiences in infancy. Furthermore, we permanently reinstated lost infantile memories by artificially updating the memory engram, demonstrating that infantile amnesia is a reversible process. Our findings suggest not only that infantile amnesia is due to a reversible retrieval deficit in engram expression but also that immune activation during development modulates innate, and reversible, forgetting switches that determine whether infantile amnesia will occur.

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14. Rudolph S, Badura A, Lutzu S, Pathak SS, Thieme A, Verpeut JL, Wagner MJ, Yang YM, Fioravante D. Cognitive-Affective Functions of the Cerebellum. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023; 43(45): 7554-64.

The cerebellum, traditionally associated with motor coordination and balance, also plays a crucial role in various aspects of higher-order function and dysfunction. Emerging research has shed light on the cerebellum’s broader contributions to cognitive, emotional, and reward processes. The cerebellum’s influence on autonomic function further highlights its significance in regulating motivational and emotional states. Perturbations in cerebellar development and function have been implicated in various neurodevelopmental disorders, including autism spectrum disorder and attention deficit hyperactivity disorder. An increasing appreciation for neuropsychiatric symptoms that arise from cerebellar dysfunction underscores the importance of elucidating the circuit mechanisms that underlie complex interactions between the cerebellum and other brain regions for a comprehensive understanding of complex behavior. By briefly discussing new advances in mapping cerebellar function in affective, cognitive, autonomic, and social processing and reviewing the role of the cerebellum in neuropathology beyond the motor domain, this Mini-Symposium review aims to provide a broad perspective of cerebellar intersections with the limbic brain in health and disease.

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15. Schmidt M, Newbutt N, Lee M, Lu J, Francois MS, Antonenko PD, Glaser N. Toward a strengths-based model for designing virtual reality learning experiences for autistic users. Autism : the international journal of research and practice. 2023: 13623613231208579.

Virtual reality has been studied for its potential in supporting individuals with autism, but existing research often focuses on deficits and lacks consideration of individual preferences and strengths. This article introduces a framework that emphasizes the strengths and abilities of autistic individuals when designing virtual reality interventions. It builds upon an existing taxonomy of educational technology affordances and extends it to align with the unique needs of autistic individuals. The framework provides guidance for incorporating virtual reality technology that supports and amplifies autistic strengths, such as visual perception and response to positive feedback. The framework has implications for practice, research, and policy. For practitioners, it offers a tool for designing virtual reality experiences that cater to the strengths of autistic individuals, enhancing engagement and educational outcomes. Researchers can utilize the framework to guide the development of user-centered virtual reality interventions and expand our understanding of the potential benefits of virtual reality for autistic populations. Policymakers and educators can consider this framework when incorporating virtual reality into educational settings, ensuring that virtual reality technology is used in a way that aligns with the strengths and needs of autistic learners. Overall, the framework promotes a strengths-based approach in utilizing virtual reality technology for individuals with autism, fostering inclusivity and maximizing the benefits of immersive experiences.

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16. Spiegel R, Notter M, Lazari O, Schmeck K, Herbrecht E. Clinical utility of the standardized observation tool Autism Behavior Coding System for early intervention research in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2023.

The Autism Behavior Coding System (ABCS) was developed to help evaluating the effectiveness of early intensive interventions in children with autism spectrum disorder (ASD). The video-based ABCS assesses eight core autistic behavioral variables during therapist-child interaction using standardized quantitative criteria, four behaviors according to their frequency of occurrence, four according to their duration. The present study focuses (1) on the correspondence of ABCS scores with scores on two standard clinical instruments (the ADOS-2 and an ASD-adaptation of the Children’s Global Assessment Scale, DD-CGAS), (2) on the sensitivity to change of ABCS scores by the end of an intensive 18 days intervention period (EIP) and (c) on the predictability of short- and longer-term changes in social and repetitive behaviors from ABCS scores at baseline and EIP. Data from 51 children (42 M, 9 F; median age 45 months) followed over 1 year were available. There were significant correlations at baseline between several ABCS scores and ADOS-2 as well as DD-CGAS scores. Correlations at EIP between some ABCS and DD-CGAS scores were highly significant. Four ABCS scores reflected significant changes from baseline to EIP. Several baseline ABCS scores were predictive of DD-CGAS and ADOS-2 scores at EIP and Year 1. However, associations between ABCS score changes from baseline to EIP and the clinical scale changes by Year 1 were not significant. It is concluded that several ABCS scores have adequate clinical validity and sensitivity to change. The short-term changes in ABCS scores and their relationship to longer-term clinical changes need further study.

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17. Sreckovic MA, Schultz TR, Kucharczyk S, Welsh-Young N. Coming out autistic at work: A review of the literature. Autism : the international journal of research and practice. 2023: 13623613231206420.

Research consistently documents the poor postsecondary outcomes of autistic individuals. It is important to identify supports that help autistic individuals get and keep jobs to improve postsecondary outcomes. Autism diagnosis disclosure at work may serve as a support (e.g., receiving accommodations) or as a barrier (e.g., discrimination) to getting and keeping employment, but little is known about the lived experiences of autistic individuals on diagnosis disclosure at work. To better understand why individuals on the spectrum choose to pursue disclosure or choose not to disclose at work, how they disclose, and the consequences of that disclosure, a state-of-the-art literature review was conducted. Ten studies met the final inclusion criteria and were synthesized to provide guidance to autistic individuals, families, and professionals who support their transition to employment. Findings from the review indicate that diagnosis disclosure is a highly complex decision. Across reviewed studies, participants chose to pursue disclosure for specific reasons, including access to accommodations or support, increase understanding, and advocate for self or others. Autistic individuals participating across reviewed studies shared they chose not to disclose primarily due to fears of discrimination and experience of stigma. Both the hopes (access to accommodations and supports) and fears (bullying and discrimination) were validated in the experienced consequences of disclosure. More research is needed on the contextual experiences of how individuals on the spectrum disclose their diagnosis at work.

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18. Tal A, Salzer MS. Exploring the Impact of COVID-19 on Community Functioning and Participation of Adults with Severe Mental Illness or Autism Spectrum Disorders: Global Perspectives and Future Implications. Community mental health journal. 2023.

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19. Zhao S, Jiang X, Han L, Jiang Y, Wang Y, Meng J, Zhu X, Zhang X, Luo H, Zhang YW. Tau reduction attenuates autism-like features in Fmr1 knockout mice. Molecular autism. 2023; 14(1): 42.

BACKGROUND: Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown. METHODS: Tau was genetically reduced in Fmr1 KO mice through crossing Fmr1(±) female mice with Mapt(±) male mice. The male offspring with different genotypes were subjected to various autism-related behavioral tests, RNA sequencing, and biochemical analysis. Fmr1 KO male mice were treated with Tau-targeting antisense oligonucleotide (ASO) and then subjected to behavioral tests and biochemical analysis. RESULTS: Tau expression was increased in the cortex of Fmr1 KO mice. Genetically reducing Tau prevented social defects, stereotyped and repetitive behavior, and spine abnormality in Fmr1 KO mice. Tau reduction also reversed increased periodic activity and partially rescued Per1 expression reduction in Fmr1 KO mice. Moreover, Tau reduction reversed compromised P38/MAPK signaling in Fmr1 KO mice. Finally, Tau-targeting ASO also effectively alleviated autism-like phenotypes and promoted P38/MAPK signaling in Fmr1 KO mice. LIMITATIONS: Our study is limited to male mice, in agreement with the higher incidence of FXS in males than females. Whether Tau reduction also exerts protection in females deserves further scrutiny. Moreover, although Tau reduction rescues impaired P38/MAPK signaling in Fmr1 KO mice, whether this is the responsible molecular mechanism requires further determination. CONCLUSION: Our data indicate that Tau reduction prevents autism-like phenotypes in Fmr1 KO mice. Tau may become a new target for FXS treatment.

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