1. Ahire C, Kaur G. Targeting the P2X7 receptor signaling pathway: Unlocking therapeutic strategies for autism spectrum disorder. Brain Behav Immun Health;2025 (Aug);47:101037.

Autism spectrum disorder (ASD) is a common developmental neurological disorder that has a significant genetic predisposition and is marked by an early beginning of impairment of social communication and restricted repetitive behaviors, as well as loss of interest in activities. Though it is a common condition, pathogenetic mechanisms and etiologic foundations are still unclear; diagnostic strategies and treatments remain inadequate and restricted. Hence, there is an ongoing need to develop safer and more effective therapeutic strategies. Recent findings indicate P2X7 receptor upregulation plays a key role in ASD development through multiple pathological mechanisms, including maternal immune activation, mitochondrial dysfunctioning, oxidative stress, and neuroinflammation. When ATP from outside the cell attaches to P2X7 receptors, it opens channels that let sodium, calcium, and potassium flow in and out of the cell. Long-term receptor stimulation generates large pores in the membrane, potentially facilitating apoptotic and inflammatory mechanisms. So, based on studies using drugs that block the P2X7 receptor and genetic methods, stopping the P2X7 receptor appears to improve the harmful effects related to ASD. So, the therapeutic lead is the brain-permeable P2X7 receptor antagonists that deserve more complete clinical validation. This review discusses how the P2X7 receptor is involved in the development of ASD and looks at possible drug strategies to slow down the disease.

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2. Cai CQ, Ma R, Ng TH, White SJ, Lavan N. Autistic adults form first impressions from voices in similar ways to non-autistic adults. Br J Psychol;2025 (Jul 3)

In everyday life, listeners spontaneously and rapidly form first impressions from others’ voices. Previous research shows that, compared to non-autistic people, autistic people show similarities and differences in how they evaluate others based on their faces. However, it remains unclear whether autistic people form first impressions from voices in the same way as non-autistic people. We asked both autistic and non-autistic listeners to rate an inferred characteristic (trustworthiness) and an apparent characteristic (age) from voice recordings to establish how they form first impressions from voices. Non-autistic and autistic listeners formed first impressions for age and trustworthiness in similar ways. Specifically, both groups showed comparable overall ratings of age and trustworthiness of voices. Further, both autistic and non-autistic listeners required similar amounts of information to form an impression. Finally, when comparing trait impressions within- and across-groups, we again found no systematic evidence of impression formation differing between autistic and non-autistic people. These findings indicate that first impression formation is potentially a relative social strength in autism. This suggests that the social challenges encountered by autistic people may be confined to specific areas of social perception rather than being universally pervasive.

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3. Campanale A, Siniscalco D, Di Marzo V. The endocannabinoidome-gut microbiome-brain axis as a novel therapeutic target for autism spectrum disorder. J Biomed Sci;2025 (Jul 2);32(1):60.

INTRODUCTION: Autism spectrum disorder (ASD) is characterized by disruption of the gut-brain axis, which leads to behavioral, psychiatric, metabolic and gastrointestinal symptoms. Effective ASD treatments are limited. Research highlights the roles of the endocannabinoidome (eCBome) and gut microbiome (GM), both crucial for brain and gut function. This review summarizes research on therapeutic targets within the eCBome-GM-brain axis for ASD and related comorbidities. DISCUSSION: Evidence suggests that reduced levels of eCBome mediators, like oleoylethanolamide and anandamide, and altered cannabinoid type 1 and type 2 (CB1 and CB2) receptors activity may contribute to ASD symptoms, making them promising targets. Modulating the eCBome-GM-brain axis with inhibitors of fatty acid amide hydrolase (FAAH), transient receptor potential vanilloid 1, and monoacylglycerol lipase (MAGL) may improve repetitive, stereotypical, and sensory behaviors, and alleviate sociability impairments, depression and anxiety. However, inhibition of FAAH and MAGL may also induce ADHD-like behaviors, which can be reversed by CB1 inverse agonists. Targeting metabotropic glutamate receptor 5 to increase levels of the eCBome mediator 2-arachidonoylglycerol (2-AG) may benefit ASD-related behaviors. eCBome mediators such as 2-AG, 1/2-palmitoylglycerol and palmitoylethanolamide may also help manage ASD- and GI-related symptoms, and systemic inflammation. Other potential therapeutic targets that deserve further investigation are eCBome-related receptors G-protein-coupled receptor 55 and peroxisome proliferator-activated receptors-alpha and -gamma, and the cyclooxygenase-2/prostaglandin E2 pathway, which may address hyperactivity and repetitive behaviors. Additionally, mucin-degrading genera like Akkermansia and Ruminococcus may improve ASD-related GI symptoms such as hypersensitivity and inflammation. Selective antibiotics against specific Clostridium strains may improve irritability and aggression. In ASD with ADHD and OCD, treatments may involve modulating the CB1 and CB2 receptor, and bacterial families like Ruminococcaceae and Lachnospiraceae. Lastly, modulating the abundance of anti-inflammatory genera like Prevotella and Anaeroplasma, and taxa associated with gut health such as Roseburia may also offer therapeutic value. CONCLUSION: The eCBome-GM-brain axis is a promising target for ASD treatment, meriting further clinical and preclinical research.

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4. Chan RCH, Hung FN. Correction: Sexual, Romantic, and Community Experiences of Individuals at the Intersection of Autism and Asexuality. Arch Sex Behav;2025 (Jul 2)

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5. Chen H, Ding Y, Xu D, Xiong Z. Resilience and Affiliate Stigma Among Parents of Children with Autism Spectrum Disorder: The Mediating Role of Life Satisfaction and the Moderating Role of Ostracism. Psychol Res Behav Manag;2025;18:1519-1529.

PURPOSE: Parents of children with autism spectrum disorder (ASD) often encounter multifaceted challenges when addressing their children’s special needs. While existing studies have examined the relationship between parental resilience and mental health in this population, the underlying mechanisms governing this association remain poorly understood. The present study aims to investigate the association between parental resilience and affiliate stigma, examine the mediating role of life satisfaction in this relationship, and assess the moderating effect of ostracism on these pathways. METHODS: This study employed a cross-sectional design to examine the relationship between resilience and affiliate stigma among parents of children with ASD, as well as the underlying mechanism. A total of 380 caregivers were recruited from autism intervention centers in Jiangsu Province, mainland China. Participants voluntarily completed questionnaires including the Brief Resilience Scale, the Affiliate Stigma Scale, the Satisfaction With Life Scale, and the Ostracism Short Scale. RESULTS: (1) Resilience of parents of children with autism negatively predicted affiliate stigma; (2) Life satisfaction partially mediated the relationship between resilience and affiliate stigma; and (3) Ostracism significantly moderated the relationship between life satisfaction and affiliate stigma. CONCLUSION: This study reveals the complex relationship between resilience, affiliate stigma, life satisfaction, and ostracism among parents of children with ASD. It highlights the significance of enhancing parental resilience, improving life satisfaction, and reducing ostracism in alleviating the stress of affiliate stigma in families of children with autism. In the family support system for children with ASD, it is necessary to build an inclusive social environment and provide resources for psychological interventions to enhance parents’ resilience in the face of challenges.

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6. de Los Santos M, Eslava VH, Guerra MA, Lozano-Ramirez JF, Enriquez J, Martinez AP, de la Cruz B. Applied Behavior Analysis in Mexico: Efforts and Challenges in Public Policy, Advocacy, and Autism Intervention. Behav Anal Pract;2025 (Jun);18(2):448-457.

Behavior analysis has a long tradition in academic institutions in Mexico. However, Applied Behavior Analysis (ABA) remains an underdeveloped component of public policies in healthcare, education, and welfare. This paper aims to assess the current state of ABA in Mexico, including its practice, recognition, regulation, and integration into public policies. An overview of the Mexican healthcare and education systems is provided as ABA services should be integrated into these structures. There is a specific focus on the management of developmental disabilities (DD) and autism spectrum disorder (ASD), for which ABA has been historically used. Recent advancements in Mexican legislation regarding the protection of people with DD and ASD and their right to receive effective attention and treatment are discussed. Also discussed are recent efforts for the creation of a professional association aimed at recognizing the effectiveness of ABA when designing empirically validated interventions. The potential impact of ABA services on public policies regarding healthcare and education in Mexico is highlighted. Finally, challenges are identified and recommendations are made to expand the reach of ABA in Mexico.

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7. Domarecki P, Plata-Nazar K, Nazar W. A proposed algorithm for early autism screening in Polish primary care settings – a pilot study. BMC Prim Care;2025 (Jul 3);26(1):216.

BACKGROUND: The rising rate of autism spectrum disorder (ASD) prevalence worldwide demands new screening algorithms to make the process of diagnosis more effective. General practitioners and pediatricians are well-positioned to screen all children aged 16 to 30 months during regular check-ups. In the research, the original algorithm for early autism screening in Polish primary care settings was proposed and tested. METHODS: Based on the literature review, the original algorithm of early autism screening employing observational tool was developed and tested. Personal data and M-CHAT-R/F were collected online. In the second phase, chosen patients participated in the Screening Tool for Autism in Toddlers and Young Children (STAT). Children who scored positive were referred for the comprehensive ASD evaluation. Normal distribution was analyzed with the use of the Shapiro-Wilk test. Chosen variables were compared using the U-Mann Whitney (nonparametric data) or Student’s t-test (parametric data). The Spearman’s rank correlation coefficient was calculated to analyze the strength of association between selected continuous variables. The threshold of the two-sided statistical significance was set at p < 0.05. RESULTS: Of 187 parents invited to the project, 159 filled the form in the first phase. According to the protocol, 29 children were chosen for the second stage. 10 children scored positive in the STAT session and were referred for comprehensive evaluation. 5 children out of the seven who attended the evaluation received a final diagnosis of ASD. Parental concerns were found the strongest predictor of M-CHAT-R/F results. Fear of having a child with ASD diagnosis was the most common reason for withdrawal from further steps of the protocol. CONCLUSIONS: The proposed algorithm for early developmental screening in the Polish primary care settings is a promising pathway with the potential to be implemented in clinical practice. It contributes to the early detection of developmental difficulties and therefore results in positive therapeutic outcomes. Further research is needed.

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8. Ebadi A, Allouch S, Mheich A, Tabbal J, Kabbara A, Robert G, Lefebvre A, Iftimovici A, Rodríguez-Herreros B, Chabane N, Hassan M. Beyond homogeneity: charting the landscape of heterogeneity in neurodevelopmental and psychiatric electroencephalography. Transl Psychiatry;2025 (Jul 2);15(1):223.

Electroencephalography (EEG) has been thoroughly studied for decades in neurodevelopmental and psychiatric research. Yet its integration into clinical practice as a diagnostic/prognostic tool remains unachieved. We hypothesize that a key reason is the underlying patient’s heterogeneity, overlooked in EEG research relying on a case-control approach. We combine high-density EEG with normative modeling to quantify this heterogeneity using two well-established and extensively investigated EEG characteristics -spectral power and functional connectivity- across a cohort of 1674 patients with attention-deficit/hyperactivity disorder, autism spectrum disorder, learning disorder, or anxiety, and 560 matched controls. Normative models showed that deviations from population norms among patients were highly heterogeneous and frequency-dependent. Deviation spatial overlap across patients did not exceed 40% and 24% for spectral and connectivity, respectively. Considering individual deviations in patients has significantly enhanced comparative analysis, and the identification of patient-specific markers has demonstrated a correlation with clinical assessments, representing a crucial step towards attaining precision psychiatry through EEG.

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9. Ferreira MC, De Beir J, Barreto MI, Ribeiro JA, Pereira C, Oliveira G. Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study. Eur J Pediatr;2025 (Jul 3);184(7):465.

Rett syndrome (RTT) is a neurological disorder caused by mutations in the MECP2 gene. It is characterized by apparently normal early neurodevelopment followed by psychomotor regression between 6 and 18 months. There is no cure, and treatment is multidisciplinary, focusing on improving quality of life and functionality. This study aims to characterize RTT patients and evaluate clinical patterns, interventions, and outcomes. A retrospective cohort study was conducted of children diagnosed with RTT and a pathogenic MECP2 variant, followed at a Portuguese tertiary pediatric hospital from 2010 to 2024. Electronic medical records were reviewed, and epidemiological and clinical data were collected. Twelve RTT patients were followed (91.7% female). The median age at symptom onset was 15 months, and at diagnosis, 35 months. Seven patients (58.3%) had classic RTT. Molecular analysis identified 10 different MECP2 variants, all de novo mutations. Epilepsy and constipation were the most common comorbidities. Five patients (41.7%) were wheelchair-dependent, and two required non-invasive respiratory support. Almost all patients received physical, occupational, and speech therapies. The median number of chronic medications per patient was two, primarily anticonvulsants. The median number of medical specialties per patient was two, with neuropediatrics and neurodevelopmental pediatrics being the most frequent. CONCLUSIONS: RTT prevalence remained stable over 20 years, with a decreased median age at diagnosis, likely due to increased awareness and genetic testing. No clear genotype-phenotype correlation was found. RTT diagnosis remains based on clinical features, particularly neurodevelopmental regression. A multidisciplinary approach was critical, with patients receiving various therapies and support. This study provides valuable insights into RTT in Portugal, contributing to global knowledge. WHAT IS KNOWN: • Rett syndrome is a rare neurodevelopmental disorder primarily affecting females, characterized by regression of motor and communication skills. • Limited long-term data exist on clinical progression and functional outcomes in pediatric Rett syndrome. WHAT IS NEW: • A decreasing age at diagnosis was observed, likely reflecting increased awareness and access to genetic testing. • In an era of promising clinical trials for potential curative treatments, an individualized, multidisciplinary approach remains the standard of care in most countries, including Portugal.

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10. Guo X, Xing Y, Cui D, Zhou R, Gao L. Heterogeneity of Degree Centrality Revealed Different Subtypes in Children with Autism Spectrum Disorder. Brain Connect;2025 (Jul 3)

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition that exhibits a wide range of clinical heterogeneity. This study aimed to explore the heterogeneity of ASD based on deviations in brain functional networks. Methods: Resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange database were analyzed in 105 children with ASD and 102 demographically matched typical controls (TC) children. Heterogeneity through discriminative analysis (HYDRA) was utilized to identify subtypes of ASD based on the degree centrality (DC) maps. Voxel-wise group comparisons were then performed between ASD subtypes and the TC group. The relationship between the altered DC and the symptom severity was finally analyzed for ASD subtypes using the multivariate support vector regression approach. Results: HYDRA identified three subtypes of ASD. Distinct DC alteration patterns were observed in brain regions including the fusiform gyrus, insula, and inferior frontal gyrus in ASD subtypes. Moreover, the altered DC values for ASD subtype 1 and subtype 3 can predict the restricted and repetitive behavior and social communication impairments in ASD, respectively. Conclusions: Our findings demonstrated the heterogeneity of brain functional networks in ASD and provided a promising way to explain the high heterogeneity of clinical symptoms and outcomes.

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11. Jeuniaux L, Van West D. [Autism spectrum disorders in adolescent sexually inappropriate behavior and sex offending]. Tijdschr Psychiatr;2025;67(5):280-286.

BACKGROUND: Autism spectrum disorders (ASD) in juvenile sex offenders present a unique challenge in forensic child and adolescent psychiatry. Specific characteristics of ASD, such as deficits in social cognition and obsessions, may theoretically contribute to sexually inappropriate behavior (SIB), however this has been scarcely studied in adolescents. Research on normative sexual development in adolescents with ASD shows no significant differences compared to neurotypical peers. AIM: To synthesize the available evidence of the relationship between ASD, SIB and sexual offending in adolescents. METHOD: A systematic search was conducted across multiple databases, yielding 16 relevant studies. RESULTS: There is evidence suggesting a higher prevalence of ASD among juvenile sexual offenders and preference for specific sexual offenses. Few specific therapeutic approaches have been identified for this group. Although there is some consensus regarding the use of cognitive behavioral therapy (CBT) and multisystemic therapy (MST), there is limited evidence supporting pharmacological interventions. Research into prevention and risk factors is limited. CONCLUSION: There is a need for further research into the prevalence, prevention, the role of parental knowledge, family dynamics, and how specific developmental skills in ASD may contribute to the emergence of problematic sexual behavior. No specific treatment strategy is currently favored for this population. We highlight several factors that warrant further investigation regarding the relationship between ASD and SIB or sexual delinquency.

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12. Ju Y, Zhao T, Gao Z, Hu W, Luo J, Cheng N, Liu C, Jiang Y, Hong B, Ji T, Yan Y. Brain age prediction model based on electroencephalogram signal and its application in children with autism spectrum disorders. Front Neurol;2025;16:1605291.

BACKGROUND: There is a lack of objective biomarkers for brain developmental abnormalities of autism spectrum disorder (ASD). We used EEG and deep learning to conduct a brain aging study in ASD. METHODS: (1) A total of 659 healthy children and 98 ASD patients were retrospectively recruited. (2) An Auto-EEG-Brain AGE prediction model based on the Gate Recurrent Unit (GRU) neural network method was constructed. (3) Using the constructed model, we evaluated the difference between the brain age of ASD and that of healthy controls, and assessed the feasibility in the clinical assessment of ASD. RESULTS: (1) The correlation coefficient (r-value) of the model exceeded 0.8 at the whole-brain level, with the highest value reaching 0.91. (2) r-values of the ASD group amounted to 0.76 at the level of the whole brain and ranged from 0.66 to 0.7 at the level of the sub-brain regions. The mean value of the brain age gap estimate (Brain AGE) in the whole brain is 0.76 years; in the sub-brain model, was 0.64-1.18 years. CONCLUSION: We constructed the EEG-Brain AGE prediction model, which can identify an individual’s brain development and be used as a biomarker for the brain development assessment in ASD.

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13. Kato D. Impact of Sex Differences in Oligodendrocytes and Their Progenitor Cells on the Pathophysiology of Neuropsychiatric Disorders. J Nippon Med Sch;2025;92(3):226-233.

Neuropsychiatric disorders such as multiple sclerosis, Alzheimer’s disease, and autism spectrum disorder exhibit significant sex differences in prevalence, progression, and response to treatment. Emerging evidence suggests that oligodendrocytes (OLs) and oligodendrocyte precursor cells (OPCs) play pivotal roles in these pathologies via mechanisms involving neuroinflammation, energy metabolism, and hormonal modulation, resulting in distinct functional outcomes. Specifically, female OPCs display higher proliferative and migratory capacities, whereas male OPCs are more prone to differentiation and myelination, thus contributing to robust myelin integrity. Dysregulation of these cells disrupts myelination and exacerbates disease progression. Addressing sex-specific gene expression in OPCs and OLs is therefore considered crucial for the development of targeted therapeutic strategies. This review highlights the significance of sex differences in the proliferation and differentiation of OPCs, as well as gene expression changes in OPCs and OLs, and emphasizes their contribution to the pathophysiology of neuropsychiatric disorders. Improved understanding of these differences is vital for advancing personalized sex-specific treatments and improving the clinical outcomes of neuropsychiatric disorders.

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14. Khandan Khadem-Reza Z, Ahmadi Lashaki R, Shahram MA, Zare H. Automatic diagnosis of autism spectrum disorders in children through resting-state functional magnetic resonance imaging with machine vision. Quant Imaging Med Surg;2025 (Jun 6);15(6):4935-4946.

BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interactions, communication, repetitive behaviors, and restricted interests. Magnetic resonance imaging (MRI) has been increasingly used to identify common patterns in individuals with autism for classification purposes. This study aims to develop an intelligent system for diagnosing ASD in children using resting-state functional magnetic resonance imaging (fMRI) and machine learning algorithms. METHODS: This study proposes a method for classifying children with ASD versus healthy control (HC) using resting-state fMRI. This study used images from 26 autistic children and 26 controls, aged 5 to 10 years. Image features were extracted from both groups, and the children with ASD were classified from the HCs using support vector machine (SVM), random forest (RF), K-nearest neighbor (KNN), and artificial neural network (ANN) algorithms. RESULTS: Our experimental results reveal that the proposed method accurately detects ASD using the ABIDE dataset and achieves accuracy of 88.46%, 73.07%, 82.69%, and 90.38% with SVM, RF, KNN and ANN algorithms, respectively. CONCLUSIONS: Diagnosing autism through clinical evaluations is time-consuming and relies on expert expertise, highlighting the importance of intelligent diagnosis for this disorder. In this study, we developed an intelligent system that demonstrated high accuracy in ASD diagnosis using resting-state fMRI and machine learning techniques.

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15. Khanh TL, Mai ATL, Duong TL, Nguyen LA. Factors Associated with Stigma Among Parents of Children with Autism Spectrum Disability in Vietnam. J Autism Dev Disord;2025 (Jul 3)

Parents of children with autism spectrum disability frequently encounter significant stigma. There has not been any research identifying all three types of stigma -perceived, self, and enacted-, especially none involving Vietnamese parents, nor exploring the experience of stigma due to language and cultural differences. This cross-sectional descriptive study aimed to identify factors associated with stigma among parents of children with autism spectrum disorder in Hanoi, Vietnam. Using a stratified sampling method, the study collected data from 846 parents at the National Children’s Hospital and five special education centers for children with disabilities in Hanoi between February and October 2023 through structured self-administered questionnaires. The study identified several factors that influence the three types of stigma experienced by parents of children with ASD. Among parent-related factors, hours of sleep and marital status were significantly linked to all three stigma types, while parental age and economic status affected one or two types of stigma. Child-related factors such as age, disability duration, and disability levels were associated with all three stigma types, whereas health insurance schooling and gender were linked to one or two types. Additionally, distressed behaviours, social support, and caregiver burden were significant predictors of all three types of stigma, with caregiver burden emerging as the strongest predictor overall (β = 0.34, 0.42 and 0.31 respectively, p < 0.001). This study can assist in identifying populations at risk and suggests that healthcare professionals should provide effective personalized care and early interventions to reduce stigma for parents of children with ASD.

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16. Lin K, M KAH, Thapa S, Allan J, Buys N, Sun J. Relationship of parental caregiving and child labour with developmental problems and mental health in children in low-to-middle-income countries using the socioecological resilience model. BMC Public Health;2025 (Jul 3);25(1):2323.

BACKGROUND: The socioecological resilience (SER) model explains that individual, relational, and structural factors influence child development and mental health. Children in low-to middle-income countries (LMICs) are affected by multiple risk factors on different SER levels. This cross-sectional study aimed assess the influence of experience of child labour and poor caregiving practices on child development in LMICs using the SER model. METHOD: Data regarding child development, caregiving practices, and child labour collected through Multiple Indicator Cluster Surveys (MICS) by UNICEF were analysed. Differences in prevalence of developmental delays, mental illness, child labour, and poor caregiving practices were compared across countries and across different sociodemographic index (SDI) levels. Multi-level modelling was used to determine factors associated with developmental difficulties, and anxiety, and depression symptoms in children. RESULTS: 251,681 children were included in the analysis. Significant variations in child labour engagement existed across low to upper-middle SDI countries. Prevalence of anxiety (30.8%), depression (40.8%) and socio-emotional difficulties (mean score = 0.115) were highest in low SDI countries. Poor physical caregiving, engagement in child labour, and low maternal education was significantly associated with higher socio-emotional difficulties, anxiety, and depression. CONCLUSION: To address the complex interplay between extreme poverty and adverse child health outcomes across low SDI countries, a multifaceted approach aimed at alleviating poverty, improving access to education, strengthening social protection systems, and promoting effective caregiving practices are required.

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17. Liu Y, Luo Y, Liu J, Gong M, Xia M, Fan X. Stem Cell Therapy and Models for Autism Spectrum Disorder: Insights and Research. Curr Neuropharmacol;2025 (Jul 3)

Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions characterized by impaired social communication, repetitive behavior patterns, and atypical sensory perception. The Autism and Developmental Disabilities Monitoring Network reports that approximately 1 in 36 children are diagnosed with ASD, highlighting the increasing prevalence and the pressing need for innovative treatment approaches. Medications commonly used in ASD primarily aim to manage associated symptoms, as there are currently no FDA-approved medications specifically for treating ASD core symptoms. Stem cells have demonstrated significant potential in cell-based therapies for ASD and have been utilized in in vitro models to investigate the pathogenesis of the condition. This review focuses on the recent advancements in stem cell-based transplantation in animal models of ASD, aiming to explore the improvement of ASD symptoms and the underlying mechanisms involved. It also discussed the application of stem cell-based transplantation in pediatric and adolescent populations with ASD to evaluate treatment efficacy and potential preventive strategies. Furthermore, recent efforts are addressed in developing stem cell-based models for both syndromic and non-syndromic forms of ASD, emphasizing studies that utilize cerebral organoids for modeling ASD, which facilitate the exploration of disease mechanisms within a tissue-like environment.

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18. Odamah K, Nishizawa Criales MT, Man HY. NEXMIF overexpression is associated with autism-like behaviors and alterations in dendritic arborization and spine formation in mice. Front Neurosci;2025;19:1556570.

We previously found that loss of the X-linked gene NEXMIF results in ASD and intellectual disability (ID). Duplication of chromosomal segments containing NEXMIF has been associated with ASD/ID in humans, but the direct link to the NEXMIF gene, as well as the behavioral and cellular consequences of NEXMIF overexpression, have not yet been explored. Here, we developed a lentivirus containing the human NEXMIF gene which was bilaterally injected into the ventricles of newborn mice. At adolescent ages, the mice were subjected to various behavioral assays to assess the presence of ASD-like behaviors and comorbidities, followed by the collection of brain tissue to examine changes in neuron morphology, protein expression, and the transcriptome. We report that NEXMIF overexpression in mice led to impaired communication, short-term memory deficits, reduced social behavior, hyperactivity, repetitive/restrictive behaviors, anxiety-like behavior, and altered nociception at adolescent ages, accompanied by attenuated dendritic spine density. RNA sequencing revealed that elevated NEXMIF dosage leads to strong dysregulation in the expression of genes involved in synaptic transmission, neuron differentiation, and post-synaptic membrane potential. Moreover, cultured neurons overexpressing NEXMIF displayed increased dendritic arborization. These findings indicate that NEXMIF overexpression results in transcriptional and cellular deficits that contribute to the development of ASD-like behaviors.

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19. Purcsel B, Farkas K. [Computational psychiatric approaches to autism]. Neuropsychopharmacol Hung;2025 (Jun);27(2):121-133.

OBJECTIVES: Over the last decades studies on the field of computational neuroscience have been striving to achieve a deeper understanding of the relationship between the pathophysiological basis, the complex brain processes involved and the behavioural characteristics of a continuously expanding circle of mental and neurodevelopmental disorders, while focusing on predictive coding accounts. The purpose of this study is to uncover the different ways of creating representations of the world (priors) by people living with autism as well as the related neurobiological and cognitive mechanisms. METHODS: The study helps to understand the implications of the theory of predictive coding by reviewing the relevant scientific literature in a systematic manner. Three dominant hypotheses stand out in the current computational neuroscientific approach of autism: the sensory precision hypothesis, the weak priors hypothesis and the rigid priors hypothesis. This study analyses the relevant research findings in the context of these hypotheses. The literature review centers on the process of prior acquisition in the analyses of related findings. RESULTS: The analyses found several differences within the three main fields the included studies have been assigned to. The differences in the sensory precision (precision of processing) come from the special characteristics of processing perceptual information in autism. According to the weak prior hypothesis, past experiences cannot properly influence the processing of current information, the integration of relevant information thus limiting the effective use of preexisting knowledge. Finally we direct our attention to the empirical results pointing to problems of prior acquisition and updating by autistic people that could lead to unusual responses to environmental changes. CONCLUSIONS: The study points to different developmental trajectories of predictive abilities by neurotypical and autistic populations. To better understand the developmental process of the predictive abilities, further studies are needed, comparing these differences in various ages.

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20. Ramme A, Zachow M, Habelt B, Vojtechova I, Petrasek T, Waltereit R, Bernhardt N. Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model. Behav Brain Funct;2025 (Jul 3);21(1):20.

Besides deficits in social communication and interaction, repetitive behavior patterns are core manifestations of autism spectrum disorder (ASD). Phenotypes are heterogeneous and can range from simple lower-order motor stereotypies to more complex higher-order cognitive inflexibility and fixated interests. Due to ASD’s multifaceted etiology, animal models are often generated from monogenic diseases associated with ASD, such as Tuberous Sclerosis Complex (TSC), and are expected to copy behavioral core deficits to increase the model´s translational value for ASD disease research and novel treatment development. The global haploinsufficient Tsc2(+/-) Eker rat model has been shown to display ASD core symptoms in the social domain. However, the presence and extent of aberrant repetitive behavior patterns in the Eker rat remain to be investigated. Thus, the present study applied a set of behavioral tests to determine the repetitive behavioral profile in Tsc2(+/-) Eker rats and used brain-region-specific neurotransmitter analysis to support findings on a molecular level. Tsc2(+/-) animals demonstrated lower-order repetitive behavior in the form of excessive self-grooming and nestlet shredding under non-stressful conditions that co-occurred alongside social interaction deficits. However, no higher-order repetitive behavior was detected in Tsc2(+/-) rats. Interestingly, Tsc2(+/-) rats exhibited increased levels of homeostatic dopamine in the prefrontal cortex, supporting the link between aberrant cortical dopaminergic transmission and the appearance of lower-order repetitive phenotypes. Together, our results support the Tsc2(+/-) Eker rat as a model of ASD-like behavior for further investigation of ASD-related development and neurobiology.

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21. Riera R, de Toledo IP, Farinasso CM, Pacheco RL, Silva RB, Colpani V, Martimbianco ALC, Cruz CM, Parreira P, Latorraca COC. Therapeutic Use of Cannabis Derivatives and Their Analogs for Autism Spectrum Disorder: A Systematic Review. J Clin Pharmacol;2025 (Jul 2)

Autism spectrum disorders are characterized by some difficulties with social interactions and communication, atypical patterns of behavior, and unusual reactions to emotions. Studies have found promising results regarding the effects of cannabis on autism. We conducted a systematic review of randomized clinical trials on the effects of cannabis derivatives and their analogs for autism. This review was developed according to the Cochrane Handbook for Systematic Reviews of Interventions and reported according to PRISMA 2020. The protocol was prospectively published in the PROSPERO database (CRD42023468300). We included randomized controlled trials with autism-diagnosed participants treated with any cannabis derivate or its analogs for therapeutic purposes. Two reviewers assessed titles and abstracts independently and potentially eligible full texts were assessed to confirm eligibility. After that, they extracted data using a standardized worksheet. Searches retrieved 1264 references, only 11 RCTs were included, four with available results for children/adolescents with autism. Five different cannabis presentations were tested. One trial pointed that cannabis may improve global assessment symptoms, but for other outcomes results were uncertain. No included study assessed quality of life. The certainty of evidence ranged from very low to low certainty for the assessed outcomes. Cannabis whole plant extract may improve global assessment symptoms, but the different cannabis presentations, outcome assessments and very low certainty of evidence from the included studies make it difficult to draw conclusions about cannabis for people with autism. This scenario of uncertainties impacts directly clinical practice and decision making.

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22. Shioda N. [Development of Therapeutic Agents Targeting Higher-order Structures of Nucleic Acids in Neurodegenerative Diseases]. Yakugaku Zasshi;2025;145(7):589-600.

G-quadruplex (G4) is a unique nucleic acid structure that formed when a four-stranded structure is produced within a single-stranded guanine-rich sequence. Four guanine molecules form a square planar arrangement, termed G-quartet, which are stacked on top of each other to form the G4 structure in DNA (G4DNA) and in RNA (G4RNA). Recent studies have revealed that G4DNA and G4RNA are folded in cells, which suggested their biological and pharmacological significance in DNA replication, transcription, epigenetic modification, and RNA metabolism. In this review, I will provide an overview of G4, its identification methods, and the biological functions « G4 biology » that have been reported, as well as its relevance to the neurological diseases that we have reported. 1) we found a neuropathogenic mechanism, « G4 prionoids » in a CGG triplet repeat disease, Fragile X-associated tremor/ataxia syndrome (FXTAS). 2) G4 is a target of cognitive function therapy for ATR-X intellectual disability syndrome, in which mutations are found in a G4 binding protein ATRX. 3) 5-aminolevulinic acid is a potential candidate drug for treating some neurological diseases through the G4 binding ability.

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23. Smith L, Kirton J, West H, Jackson L, Herron K, Cherry MG. The interpersonal experiences of autistic women and birthing people in the perinatal period: a systematic review using the autistic SPACE framework. J Reprod Infant Psychol;2025 (Jul 3):1-23.

AIMS/BACKGROUND: Autistic women and birthing people encounter challenges beyond those typically experienced in the perinatal period. In non-perinatal healthcare settings, autistic people do not feel well-understood and supported by healthcare professionals. Little is known about how autistic people experience maternity and perinatal healthcare services. This systematic review synthesises studies exploring autistic women and birthing people’s interpersonal experiences when engaging with perinatal healthcare services, using the Autistic SPACE Framework to guide interpretation. DESIGN/METHODS: Searches of MEDLINE, CINAHL, Embase, PsycINFO, Scopus and Web of Science were supplemented with hand searching. Studies were included if they included qualitative data from peer-reviewed publications relating to autistic women and birthing people’s experiences of perinatal healthcare. Studies were assessed using the Critical Appraisal Skills Programme (CASP) qualitative checklist. Data were extracted and synthesised using thematic synthesis; confidence in findings was assessed using the GRADE CER-Qual framework. RESULTS: Ten high-quality studies, with 301 participants, were included. Eight over-arching themes were identified with high confidence, mapping onto the SPACE framework: (1) Feeling over-stimulated; (2) The need to build rapport with healthcare professionals; (3) The need for clear factual information; (4) Feeling judged; (5) Poor understanding of autism; (6) Not asking for help does not mean not needing help, (7) The need for autism-tailored communication and (8) Feeling uncared for. CONCLUSION: Autistic women and birthing people’s needs are not well-understood and supported in perinatal and maternity services, which negatively effects access to, and experience of, care. More autism-nuanced training, including education on sensory and communication differences, is needed.

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24. Son E, Kim S. « Yes, yes, you are right »: experiences of first-generation Korean immigrant parents of children and youth with developmental disabilities interacting with healthcare and education professionals. Disabil Rehabil;2025 (Jul 3):1-11.

PURPOSE: Parent-professional interactions are critical to providing appropriate and effective services supporting children and youth with disabilities. There are few studies exploring the experience of Asian immigrant parents of children and youth with developmental disabilities (DD), particularly long-term first-generation Korean immigrant parents, in their interaction with healthcare and education professionals. This study aims to explore experiences concerning parent-professional interactions and the use of interpreters of 14 first-generation Korean immigrant parents of children and youth with DD. METHODS: One-on-one interviews were conducted with parents of children and youth with DD who identified as first-generation immigrants living in the New York metropolitan area. The data were translated and analyzed using the grounded theory method. RESULTS: The interviews revealed two main themes: (1) challenges of intercultural communication, including sub-themes such as lack of cultural awareness, adaptability and flexibility, and interpersonal sensitivity; and (2) language barriers, including sub-themes such as parental reluctance to use interpreter services. CONCLUSIONS: Cultural awareness, adaptability, and understanding emotional aspects of communication are vital for professionals to foster comfortable interactions with parents, improving healthcare and educational outcomes. The findings emphasize the urgent need for quality interpretation services, interpreter training, peer navigators, and tech education for immigrant families. Professionals need to understand the challenges of intercultural communication when interacting with immigrant parents of children and youth with developmental disabilities.Professionals need to engage parents by fostering cultural awareness, maintaining an open mind, adapting to diverse needs, actively listening, demonstrating empathy, and exercising patience while working with historically marginalized families, such as immigrant families of color.Teaching immigrant parents to use technology empowers them to navigate systems and express their needs with confidence.Improving interpretation services through pre-meetings, targeted training, appropriate accommodations, and the use of peer navigators is essential for effectively meeting the needs of immigrant families. eng

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25. Wang Z, Zhao Y, Yang S, Wang Y, Wang L. Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations. Genet Res (Camb);2025;2025:5724454.

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single-nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics. Here, we performed WES on 50 Chinese children with ASD who tested negative for copy number variants (CNVs). The analysis achieved a diagnostic yield of 10% (5/50 cases). All SNVs and InDels were loss-of-function (LOF) and were slightly more frequent among females (male vs. female: 9.3% vs. 14.3%). A total of five causative genes (PRODH9, PTEN, DEPDC5, SATB2, and CYFIP1) were identified in this study. Variants in ASD-associated genes (CHD8, FOXP1, and SHANK1) and genes linked to other neurodevelopmental disorders (CDH15, GATAD2B, and SHROOM4) were also detected. Despite the small sample size, our findings contribute partially to the dataset on the phenotype and genetic etiology of ASD and underscore WES as a critical tool for elucidating genetic etiologies in CNV-negative ASD cohorts.

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26. Wills BC, Matthews MM, Johnston J, Bolo I, Ottman R, Appelbaum PS. Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing. J Am Acad Child Adolesc Psychiatry;2025 (Jul 3)

OBJECTIVE: To perform a systematic literature review of the psychosocial impacts on parents and autistic people of receiving autism-related genetic test results. METHOD: Systematic searches of MEDLINE, PsycINFO, CINAHL, Web of Science Core Collection, Sociological Index, and Scopus were conducted for articles appearing through October 27, 2024. The authors screened 3,606 articles. The quality of the included articles was assessed with the QuADS appraisal tool. RESULTS: Twenty-two articles met inclusion criteria. Across research and clinical settings, articles assessed impacts of receiving actual (n=18) or hypothetical (n=4) genetic test results. Twenty articles assessed impacts on parents and prospective parents, while two assessed impacts on autistic adults. Psychological impacts of receiving results varied and included relief, peace of mind, reduced guilt, disappointment, fear, frustration, stress, blame, and guilt. Comparison of the frequencies of these responses was limited by heterogeneous assessment methods, variable reporting formats, and inconsistent outcome measures across studies. Receiving results sometimes confirmed diagnoses, led to altered care plans, influenced family planning, or impacted the decision to end or continue a pregnancy. Most articles reported low-to-mild or highly variable satisfaction with the testing experience. Studies of autistic adults reported strong concerns about testing without consent and discriminatory uses of genetics. CONCLUSION: Impacts on parents and prospective parents appear relatively modest, albeit with mixed valences-a finding broadly similar to return-of-results studies for other complex genetic conditions. Although the findings of the two studies of autistic adults differ substantially, they suggest that autistic people and current and prospective parents of autistic children may have significantly different experiences and perspectives. Clinicians should recognize these differences and help parents understand and weigh them in decision-making.

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27. Xia D, Xu Y, He Z, Chen R, Xiao X, Li X, Deng K, Deng S, Zhang L, Zhang J, Peng X, Meng Z, Wu R, Wang D, Liu Z, Chen H, Li L, Liang L. Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder. J Neurodev Disord;2025 (Jul 2);17(1):36.

ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases with novel de novo heterozygous ANKRD17 variants. Case 1 describes a fetus with multiple congenital anomalies, where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene. Case 2 involves a 12-year-old male presenting with mild ID and progressive social impairments, associated with a NM_032217.5: c.1252 C > T (p.Arg418*) variation in ANKRD17. Our study highlighted in mouse models an association between Ankrd17 haploinsufficiency and deficits in social behavior, spatial learning and memory, as well as elevated anxiety. Furthermore, our studies suggest dysregulation of synaptic proteins and mitochondrial function, along with impaired neural circuits following Ankrd17 knockdown. These results expand the genetic and phenotypic spectrum of ANKRD17-related disorders, underscore the critical role of mitochondrial dysfunction in the pathophysiology of ANKRD17-related ID and ASD.

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