Pubmed du 14/09/23

Pubmed du jour

1. Abdulah DM, Abdulla BMO, Liamputtong P. Impact of short and intensive art-based intervention on symptomatology and social interactions among children with autism spectrum disorder. Clinical and experimental pediatrics. 2023.

BACKGROUND: Consensus on the effectiveness of art therapy in children with autism spectrum disorders (ASDs) is lacking in the literature. PURPOSE: Here, we examined the effectiveness of a short and intensive art-based intervention on autistic symptomatology and social skills among children with ASD levels 2 and 3. METHODS: This pre- and postexperimental investigation included 13 children previously diagnosed with ASD levels 2 and 3 in Kurdistan Region in 2019. They completed the art-based intervention 2 hours/day for 3 days/week for 1 month. The activities included cutting and pasting squares and triangles, coloring black-and-white images, and recognizing and coloring shapes. Children used wooden and aquatic pens and scissors under guidance. Symptom severity was measured using the Social Responsiveness Scale (SRS-2), a validated tool for measuring the severity of autistic traits and symptoms that features subscales of social awareness, social cognition, social communication, social motivation, and autistic mannerisms. Children with ASD level 2 require significant support and experience notable difficulties in verbal and social communication, while those with ASD level 3 require extensive support and have the most severe form of autism. The outcome was measured one day before the course commenced and one week after completion. RESULTS: The mean patient age (n=13) was 8.15 years (standard deviation, 1.95; range, 5-11 years). Most patients were male (n=11, 84.62%). The mean SRS-2 score did not change significantly pre- to postexperiment (159 vs. 157, P=0.601). Similarly, we found no significant changes in social awareness (19 vs. 19, P=0.779); social cognition (28 vs. 27, P=0.199); social communication (56 vs. 54, P=0.600); social motivation (26 vs. 24, P=0.684); and autistic mannerisms (33 vs. 32; P= 0.780), respectively. CONCLUSION: The art-based intervention did not improve autism symptoms or social interactions among children with ASD levels 2 and 3.

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2. Bilgeç N, Balasar Ö, Uzun N, Pekcan S, Bedel FM, Çaksen H. Case of twin achondroplasia and autism coexistence and literature review. Psychiatric genetics. 2023.

Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with Down syndrome and microdeletion syndromes helps to shed light on the genetic basis of ASD. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.

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3. Brown C, Lerner M, Stadheim J, Kerns C, Moskowitz L, Cohn E, Drahota A, Soorya L, Wainer A. Provider Self-Reported Use and Usefulness of Intervention Strategies for Externalizing Behaviors in Youths with ASD. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2023: 1-15.

OBJECTIVE: To examine predictors of implementation and perceived usefulness of four empirically supported strategies for treating externalizing behavior in youths with ASD. METHOD: Participants were 557 providers in the United States with experience treating externalizing behavior in youths with ASD. Generalized estimating equations were used to determine whether self-reported use and usefulness of four empirically supported intervention strategies (functional communication training, functional behavior analysis, visual tools/supports, token economy) were predicted by key provider characteristics: professional discipline, experience, and practice specialization (across three indices) in ASD. Post-hoc contrasts were performed to identify provider groups reporting the greatest use and usefulness of the four strategies. RESULTS: Strategies were most often used by providers with behavioral backgrounds, though perceived usefulness of strategies varied by providers’ professional discipline. Compared to providers with more than 10 years of experience, less experienced providers endorsed the highest average use and usefulness of almost all strategies. Regarding ASD practice specialization, a lower volume of ASD cases, treating fewer youths with ASD over a 5-year period, and having a higher proportion of practice time working with youths with ASD reported were associated with greater use and usefulness of the strategies. CONCLUSIONS: Empirically supported strategies are widely used by and perceived as useful by providers who treat youths with ASD and co-occurring externalizing behaviors. Use and usefulness varies based on provider discipline, experience, and ASD practice specialization.

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4. Choi H, Kim JH, Kim H, Cheon KA. Identifying major predictors for parenting stress in a caregiver of autism spectrum disorder using machine learning models. Frontiers in neuroscience. 2023; 17: 1229155.

INTRODUCTION: Previous studies have investigated predictive factors for parenting stress in caregivers of autism spectrum disorder (ASD) patients using traditional statistical approaches, but their study settings and results were inconsistent. Herein, this study aimed to identify major predictors for parenting stress in this population by developing explainable machine learning models. METHODS: Study participants were collected from the Department of Child and Adolescent Psychiatry, Severance Hospital, Yonsei University College of Medicine, Seoul, the Republic of Korea between March 2016 and October 2020. A total of 36 model features were used, which include subscales of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) for caregivers’ psychopathology, Social Responsiveness Scale-2 for core symptoms, and Child Behavior Checklist (CBCL) for behavioral problems. Machine learning classifiers [eXtreme Gradient Boosting (XGBoost), random forest (RF), logistic regression, and support vector machine (SVM) classifier] were generated to predict severe total parenting stress and its subscales (parental distress, parent-child dysfunctional interaction, and difficult child). Model performance was assessed by area under the receiver operating curve (AUC), sensitivity, specificity, accuracy, positive predictive value, and negative predictive value. We utilized the SHapley Additive exPlanations tree explainer to investigate major predictors. RESULTS: A total of 496 participants were included [mean age of ASD patients 6.39 (SD 2.24); 413 men (83.3%)]. The best-performing models achieved an AUC of 0.831 (RF model; 95% CI 0.740-0.910) for parental distress, 0.814 (SVM model; 95% CI 0.720-0.896) for parent-child dysfunctional interaction, 0.813 (RF model; 95% CI 0.724-0.891) for difficult child, and 0.862 (RF model; 95% CI 0.783-0.930) for total parenting stress on the test set. For the total parenting stress, ASD patients’ aggressive behavior and anxious/depressed, and caregivers’ depression, social introversion, and psychasthenia were the top 5 leading predictors. CONCLUSION: By using explainable machine learning models (XGBoost and RF), we investigated major predictors for each subscale of the parenting stress index in caregivers of ASD patients. Identified predictors for parenting stress in this population might help alert clinicians whether a caregiver is at a high risk of experiencing severe parenting stress and if so, providing timely interventions, which could eventually improve the treatment outcome for ASD patients.

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5. Gemmell M, Walsh T, Sherby M, Imbeah A, Bono K, Baldenweck M, Gurnett C, Newland JG. Clusters of SARS-CoV-2 Infection Across Six Schools for Students with Intellectual and Developmental Disabilities. Infectious diseases and therapy. 2023.

INTRODUCTION: Individuals with intellectual and developmental disabilities are at increased risk for adverse outcomes from coronavirus disease 2019. Clusters of COVID-19 infections can be used to track SARS-CoV-2 transmission. This is particularly important in environments frequently used for individuals with intellectual and developmental disabilities, such as schools. The objective of this study was to compare the number of clusters of student and staff cases identified during three distinct periods (pre-Delta, Delta, and Omicron) of the COVID-19 pandemic. METHODS: Weekly COVID-19 testing occurred from November 23, 2020 to May 27, 2022 during three phases of the COVID-19 pandemic: pre-Delta, Delta, and Omicron. Structured interviews were conducted with positive cases to determine if they contracted COVID-19 in the school environment, and interviews with school administrators responsible for contact tracing determined school-based clusters. RESULTS: 160 cases of COVID-19 were identified and 55 cluster positives were recorded during the study period. 0 (0%) cluster positives were recorded during the pre-Delta variant wave, 3 (5%) cluster positives were recorded during the Delta variant wave, and 52 (95%) cluster positives were recorded during the Omicron variant wave. Additionally, 23 (85%) of all positives during pre-Delta, 12 (50%) of all positives during Delta, 66 (61%) of all positives during Omicron, and 36 (69%) of cluster positives during Omicron did not receive CDC-recommended dosages of the COVID-19 vaccine. CONCLUSION: The Omicron variant led to an increase in cluster-based transmission, and staying up to date with vaccination guidelines was crucial in limiting transmission. CLINICAL TRIAL REGISTRATION: Prior to enrollment, this study was registered at ClinicalTrials.gov on September 25, 2020 (identifier NCT04565509; titled « Supporting the Health and Well-being of Children with Intellectual and Developmental Disability During COVID-19 Pandemic »).

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6. Genovese D, Quatrosi G. Considering the Family of Autistic Individuals – The Hidden Struggles of Non-Autistic Siblings. Indian pediatrics. 2023; 60(9): 705-6.

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7. Gignac GG, Palermo R, Bothe E, Walker D, Wilmer JB. EXPRESS: Face Perception and Facial Emotional Expression Recognition Ability: Both Unique Predictors of the Broader Autism Phenotype. Quarterly journal of experimental psychology (2006). 2023: 17470218231203679.

Autism spectrum disorder (ASD) and the Broader Autistic Phenotype (BAP) have been suggested to be associated with perceptual-cognitive difficulties processing human faces. However, the empirical results are mixed, arguably, in part, due to inadequate samples and analyses. Consequently, we administered the Cambridge Face Perception Test (CFPT), the Reading the Mind in the Eyes Test (RMET), a vocabulary test, and the Autism Quotient (AQ) to a sample of 318 adults in the general community. Based on a disattenuated path analytic modeling strategy, we found that both face perception ability (β = -.21) and facial emotional expression recognition ability (β = -.27) predicted uniquely and significantly the Communication dimension of the AQ. Vocabulary failed to yield a significant, direct effect onto the Communication dimension of the AQ. We conclude that difficulties perceiving information from the faces of others may contribute to difficulties in nonverbal communication, as conceptualised and measured within the context of the BAP.

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8. Haoues M, Mokni R. Toward an autism-friendly environment based on mobile apps user feedback analysis using deep learning and machine learning models. PeerJ Computer science. 2023; 9: e1442.

Autistic people are often disadvantaged in employment, education, etc. In fact, autistic students/employees face several challenges navigating and communicating with their superiors and colleagues. Mobile applications for people with Autism Spectrum Disorder (ASD apps for short) have been increasingly being adapted to help autistic people manage their conditions and daily activities. User feedback analysis is an effective method that can be used to improve ASD apps’ services. In this article, we investigate the usage of ASD apps to improve the quality of life for autistic students/employees based on user feedback analysis. For this purpose, we analyze user reviews suggested on highly ranked ASD apps for college students, and workers. A total of 97,051 reviews have been collected from 13 ASD apps available on Google Play and Apple App stores. The collected reviews have been classified into negative, positive, and neutral opinions. This analysis has been performed using machine learning and deep learning models. The best performances were provided by combining RNN and LSTM models with an accuracy of 96.58% and an AUC of 99.41%. Finally, we provide some recommendations to improve ASD apps to assist developers in upgrading the main services provided by their apps.

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9. Hope S, Shadrin AA, Lin A, Bahrami S, Rødevand L, Frei O, Hübenette SJ, Cheng W, Hindley G, Nag H, Ulstein L, Efrim-Budisteanu M, O’Connell K, Dale AM, Djurovic S, Nærland T, Andreassen OA. Bidirectional genetic overlap between autism spectrum disorder and cognitive traits. Translational psychiatry. 2023; 13(1): 295.

Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59-68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (r(g) = 0.21, p = 2e-13) and INT (r(g) = 0.22, p = 4e-12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

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10. Joung WJ. Phenomenological Study on the Lived Experiences of Mothers Caring for Their Pubescent Children with Developmental Disabilities. Asian nursing research. 2023.

PURPOSE: This phenomenological study explored and revealed the mothers’ lived experiences of caring for pubescent children with developmental disabilities (DDs) in Korea. METHODS: Data were collected from semi-structured individual in-depth interviews with nine mothers. This study adopted Giorgi’s phenomenological analysis, through which a general structure of mothers’ caregiving experiences with their pubescent adolescents with DD was formulated. RESULTS: The lived experiences of mothers caring for pubescent children with DD were clustered into four themes and nine subthemes from 19 meaning units: 1) Not being allowed to take delight in child’s growth due to unbalanced growth pace; 2) Feeling marginalized along with the disabled child; 3) Feeling like being kicked out of society slowly and permanently; 4) Rearrangement of care direction and purpose. CONCLUSIONS: This qualitative study captured vivid experiences of mothers who care for pubescent children with DD by illustrating these mothers’ detailed physical, emotional, and relational difficulties in their caring. Most importantly, this study found that it is puberty that these mothers come to clearly understand that their children and their disabilities are inseparable, and change the purpose and direction of childcare. The findings of this study can help health professionals better understand that these mothers are in urgent need for emotional support, and need to be included in nursing care. And this study can be used as base data for increasing disability awareness for both healthcare workers and public in general.

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11. Koum DCK, Enyama D, Foko LPK, Noukeu D, Nguedia B, Mbono R, Eposse C, Eboumbou PE, Engome CB, Mapoure YN. Diagnosis and treatment challenges of autism spectrum disorder at a reference hospital in Douala, Cameroon. BMC pediatrics. 2023; 23(1): 459.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disability associated with deficiency in social interaction, unusual development of social communication, and restricted or repetitive behaviors, interests and activities. This study aimed to describe management of pediatric ASD in Cameroon, a resource-constrained Central Africa country. METHODS: A retrospective study was conducted between December 2021 and May 2022 at the Pediatrics department of a reference hospital in the town of Douala. Data of interest of children with ASD were collected through eligible medical records and telephone discussions with their parents/guardians. RESULTS: Medical records of 145 children with ASD aged 2-15 years were included in the study, giving a hospital ASD prevalence of 3.7%. Time delay between parental concerns and hospital management was specified in 69 (47.58%) children, and among them 38 (55.07%) had a mean delay ± SD was less than five months. Children were mainly males (76%) and aged 4-5 years (37.93%), with mean age ± SD of 44.4 ± 22.2 months old. The main consultation reason was delayed language development (100%). Mean time delay between parental concerns and the first medical consultation was 18 months (range 1-60 month). Attention deficit hyperactivity disorder were found in 68.18% of children aged ≥ 6 years old. Neuropsychology (66.2%) was the most frequently used intervention. Some children were treated using traditional medicine. CONCLUSIONS: Management of pediatric ASD is strongly influenced by socioeconomic and cultural context. It is crucial to implement behavioral change campaigns in community, organize training sessions to medical staff on diagnosis and treatment of ASD, and provide specialized centers with skilled staff and equipped material.

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12. Lee J, Kang E, Heo DW, Suk HI. Site-Invariant Meta-Modulation Learning for Multisite Autism Spectrum Disorders Diagnosis. IEEE transactions on neural networks and learning systems. 2023; Pp.

Large amounts of fMRI data are essential to building generalized predictive models for brain disease diagnosis. In order to conduct extensive data analysis, it is often necessary to gather data from multiple organizations. However, the site variation inherent in multisite resting-state functional magnetic resonance imaging (rs-fMRI) leads to unfavorable heterogeneity in data distribution, negatively impacting the identification of biomarkers and the diagnostic decision. Several existing methods have alleviated this shift of domain distribution (i.e., multisite problem). Statistical tuning schemes directly regress out site disparity factors from the data prior to model training. Such methods have a limitation in processing data each time through variance estimation according to the added site. In the model adjustment approaches, domain adaptation (DA) methods adjust the features or models of the source domain according to the target domain during model training. Thus, it is inevitable that it needs updating model parameters according to the samples of a target site, causing great limitations in practical applicability. Meanwhile, the approach of domain generalization (DG) aims to create a universal model that can be quickly adapted to multiple domains. In this study, we propose a novel framework for disease diagnosis that alleviates the multisite problem by adaptively calibrating site-specific features into site-invariant features. Specifically, it applies directly to samples from unseen sites without the need for fine-tuning. With a learning-to-learn strategy that learns how to calibrate the features under the various domain shift environments, our novel modulation mechanism extracts site-invariant features. In our experiments over the Autism Brain Imaging Data Exchange (ABIDE I and II) dataset, we validated the generalization ability of the proposed network by improving diagnostic accuracy in both seen and unseen multisite samples.

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13. Li C, Fleck JS, Martins-Costa C, Burkard TR, Themann J, Stuempflen M, Peer AM, Vertesy Á, Littleboy JB, Esk C, Elling U, Kasprian G, Corsini NS, Treutlein B, Knoblich JA. Single-cell brain organoid screening identifies developmental defects in autism. Nature. 2023; 621(7978): 373-80.

The development of the human brain involves unique processes (not observed in many other species) that can contribute to neurodevelopmental disorders(1-4). Cerebral organoids enable the study of neurodevelopmental disorders in a human context. We have developed the CRISPR-human organoids-single-cell RNA sequencing (CHOOSE) system, which uses verified pairs of guide RNAs, inducible CRISPR-Cas9-based genetic disruption and single-cell transcriptomics for pooled loss-of-function screening in mosaic organoids. Here we show that perturbation of 36 high-risk autism spectrum disorder genes related to transcriptional regulation uncovers their effects on cell fate determination. We find that dorsal intermediate progenitors, ventral progenitors and upper-layer excitatory neurons are among the most vulnerable cell types. We construct a developmental gene regulatory network of cerebral organoids from single-cell transcriptomes and chromatin modalities and identify autism spectrum disorder-associated and perturbation-enriched regulatory modules. Perturbing members of the BRG1/BRM-associated factor (BAF) chromatin remodelling complex leads to enrichment of ventral telencephalon progenitors. Specifically, mutating the BAF subunit ARID1B affects the fate transition of progenitors to oligodendrocyte and interneuron precursor cells, a phenotype that we confirmed in patient-specific induced pluripotent stem cell-derived organoids. Our study paves the way for high-throughput phenotypic characterization of disease susceptibility genes in organoid models with cell state, molecular pathway and gene regulatory network readouts.

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14. Lopes LPN, Itria A, Lopes LC. Budget Impact Analysis of Risperidone Use and Adverse Event Monitoring in Autism Spectrum Disorder in Brazil: Assessment of Theoretical Versus Real Data. PharmacoEconomics – open. 2023.

BACKGROUND AND AIMS: Risperidone is used in autism spectrum disorder (ASD) to manage aggressive behavior. Budget impact analysis (BIA) assists managers in promoting more sustainable health systems; however, it is unclear whether BIAs underestimate or overestimate the estimates derived from real-world data. This study aimed to compare the estimated BIA values of risperidone use and the monitoring of adverse events in ASD using theoretical and real data. METHODS: Analyses were conducted based on the clinical protocol and the Brazilian therapeutic guidelines for ASD. The perspective adopted was that of the Unified Health System (SUS), considering a time horizon of 5 years. Three possible scenarios were considered based on the maximum daily dose of risperidone. Expenses related to the acquisition of risperidone and the monitoring of adverse events were taken into account using health databases in Brazil. For the calculation based on theoretical data, the prevalence of ASD was estimated using information from the scientific literature and the Brazilian demographic census. The model calculated from real data was obtained by analyzing the linear trend of the number of users assisted in the SUS from 2017 to 2021. RESULTS: The population estimated by the theoretical model compared with the model calculated from the real data was higher. Likewise, the 5-year budgetary impact of the theoretical model versus the model calculated from the real data was higher, with statistical significance in all scenarios (p < 0.001). In the real data model, the most economically advantageous scenarios were Scenario 1 for children (International dollars [I$] 7,630,040.73) and Scenario 3 for adults (I$60,329,288.17). Estimated expenditures for monitoring adverse events ranged from 17 to 74% in children and from 50% to 63% in adults. CONCLUSIONS: The data revealed significant differences in population and cost estimation between theoretical data and real-world data. The expenses associated with monitoring adverse events represented a substantial expenditure estimate for the SUS.

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15. Nijhof AD. Recent neural advances in studies on theory of mind and autism. Social neuroscience. 2023.

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16. Sonuga-Barke EJS. Paradigm ‘flipping’ to reinvigorate translational science: Outlining a neurodevelopmental science framework from a ‘neurodiversity’ perspective. Journal of child psychology and psychiatry, and allied disciplines. 2023; 64(10): 1405-8.

For the most part the science of neuro-developmental conditions, such as autism and ADHD, is conducted within a framework defined by a paradigm that assumes that these expressions of neuro-developmental variation are disorders resulting from brain dysfunction. the translational goal being to identify, then target, the source of such dysfunction to reduce disorder and resolve impairment. By shifting this perspective to one that defines such conditions as divergence in thought and action underpinned by brain atypicality, the neurodiversity paradigm offers a fresh scientific vision shaped by a new translational imperative. It shifts the focus of enquiry to understanding the way environments shape experience to either stifle or promote the well-being and development of neurodivergent people. It also encourages the fullest possible participation of neurodivergent people in the scientific process. Together these two elements provide a platform for a new translational science of neurodevelopment.

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17. Wang Q, Tang B, Hao S, Wu Z, Yang T, Tang J. Forniceal deep brain stimulation in a mouse model of Rett syndrome increases neurogenesis and hippocampal memory beyond the treatment period. Brain stimulation. 2023.

BACKGROUND: Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2), severely impairs learning and memory. We previously showed that forniceal deep brain stimulation (DBS) stimulates hippocampal neurogenesis with concomitant improvements in hippocampal-dependent learning and memory in a mouse model of RTT. OBJECTIVES: To determine the duration of DBS benefits; characterize DBS effects on hippocampal neurogenesis; and determine whether DBS influences MECP2 genotype and survival of newborn dentate granular cells (DGCs) in RTT mice. METHODS: Chronic DBS was delivered through an electrode implanted in the fimbria-fornix. We tested separate cohorts of mice in contextual and cued fear memory at different time points after DBS. We then examined neurogenesis, DGC apoptosis, and the expression of brain-derived neurotrophic factor (BDNF) and vascular endothelial growth factor (VEGF) after DBS by immunohistochemistry. RESULTS: After two weeks of forniceal DBS, memory improvements lasted between 6 and 9 weeks. Repeating DBS every 6 weeks was sufficient to maintain the improvement. Forniceal DBS stimulated the birth of more MeCP2-positive than MeCP2-negative DGCs and had no effect on DGC survival. It also increased the expression of BDNF but not VEGF in the RTT mouse dentate gyrus. CONCLUSION: Improvements in learning and memory from forniceal DBS in RTT mice extends well beyond the treatment period and can be maintained by repeated DBS. Stimulation of BDNF expression correlates with improvements in hippocampal neurogenesis and memory benefits.

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18. Zhang Q, Wang Y, Tao J, Xia R, Zhang Y, Liu Z, Cheng J. Sex-biased single cell genetic landscape in mice with autism spectrum disorder. Journal of genetics and genomics = Yi chuan xue bao. 2023.

Autistic spectrum disorder (ASD) is a male-biased heterogeneous neurodevelopmental disorder that affects approximately 1%-2% of the population. Prenatal exposure to valproic acid (VPA) is a recognized risk factor for ASD, but the cellular and molecular basis of VPA-induced ASD at the single-cell resolution is unclear. Here, we aimed to compare the cellular and molecular differences in the hippocampus between male and female prenatal mice with ASD at the single-cell transcriptomic level. The transcriptomes of more than 45,000 cells were assigned to 12 major cell types, including neurons, glial cells, vascular cells, and immune cells. Cell type-specific genes with altered expression after prenatal VPA exposure were analyzed, and the largest number of differentially expressed genes (DEGs) were found in neurons, choroid plexus epithelial cells, and microglia. In microglia, several pathways related to inflammation were found in both males and females, including the TNF, NF-κB, Toll-like receptor, and MAPK signaling pathways, which are important for the induction of autistic-like behavior. Additionally, we noted that several X-linked genes, including Bex1, Bex3, and Gria3, were among the male-specific DEGs of neurons. This pioneering study describes the landscape of the transcriptome in the hippocampus of autistic individuals. The elucidation of sexual differences could provide innovative strategies for the prevention and treatment of ASD.

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19. Zhou Q, Lei Y, Du H, Tao Y. Public concerns and attitudes towards autism on Chinese social media based on K-means algorithm. Scientific reports. 2023; 13(1): 15173.

To investigate the hot topics and attitudes of autism in the larger community. In this study, we analyzed and summarized experimental texts from the social media platform Zhihu using the TF-IDF algorithm and K-means clustering approach. Based on the analysis of the 1,740,826-word experimental text, we found that the popularity of autism has steadily risen over recent years. Sufferers and their parents primarily discuss autism. The K-means clustering algorithm revealed that the most popular topics are divided into four categories: self-experience of individuals with autism, external views of individuals with autism, caring and stressful behaviors of caregivers, and information about autism. This study concluded that people with autism face more incredible negative emotions, external cognitive evaluations of the autistic group reflect stereotypes, the caregiver’s family suffers high financial and psychological stress, and disorders caused by disease in autistic individuals.

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