1. Abbo N, Mitchell T, Tonekaboni SH, Anagnostou E, Andrade BF, Thorpe K, Beal DS. Feasibility and usability of remote transcranial direct current stimulation (tDCS) for self-regulation in children with autism: protocol for a randomized controlled pilot study. Pilot Feasibility Stud. 2025; 11(1): 57.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication and self-regulation impairments. Impaired response inhibition and self-regulation in ASD have been shown to be related to abnormal functional network connectivity in the dorsolateral prefrontal cortices (DLPFC). Transcranial direct current stimulation (tDCS) of DLPFC is a safe, tolerable, and precise intervention that has shown promise for the improvement of self-regulatory behavior in ASD. However, clinical translation has been prevented by a lack of effective systematic design, experimental control, and a high participation burden. The proposed protocol aims to evaluate the feasibility and usability of home-based tDCS to promote self-regulation in children with ASD. METHODS: Participants will be randomized into an active or sham tDCS group and will receive 20 min of stimulation 5 days per week for 3 weeks. Participants in the sham group receive a negligible amount of stimulation. Sessions will be virtually supported by the study team. Assessments are taken at baseline, 1-week post-treatment, and 18 weeks post-treatment. These assessments include clinical measures of self-regulation and social communication (participant-, parent-, and clinician-reported), a response inhibition task, and magnetic resonance imaging. Recruitment, retention, and adherence rates will be used to assess the feasibility of the protocol. The usability of the remote tDCS device will be assessed via a usability survey, user interviews, and video analysis of device use. DISCUSSION: Home-based tDCS may benefit children by providing an efficient, passive, and tolerable treatment that positively impacts function, activities, and participation. This study will identify potential challenges for the clinical translation of this therapy so that home-based tDCS can be positioned for success in healthcare delivery implementation. TRIAL REGISTRATION: ClinicalTrials.gov, NCT06129058. Registered on November 8, 2024.

Lien vers le texte intégral (Open Access ou abonnement)

2. Abdukalikova D, Auezova A, Baymuratova M, Yessembayeva S, Yermukhanova G, Yerkibayeva Z. WORKSHOP AS A PRACTICE-ORIENTED METHOD OF TEACHING DENTISTS: INTRODUCTION TO EDUCATIONAL PROGRAMS FOR WORKING WITH CHILDREN WITH AUTISM SPECTRUM DISORDERS. Georgian Med News. 2025; (359): 126-32.

This article addresses the pressing issue of providing dental care to children with Autism Spectrum Disorder (ASD) and emphasizes the need for an innovative approach in the training of dental professionals. The intensive course we have developed for practical training, based on the use of clinical cases and patient management algorithms for ASD, represents an important step toward improving the quality of dental care. During their education in medical universities, students master various types of simulations, which allow them to integrate theoretical knowledge with practical skills. However, given the dynamic nature of medical practice and societal needs, continuous updating of this knowledge is essential. We present a « portrait » of a dentist working with children with ASD, which includes a list of criteria in line with current medical standards and innovations. The key aspects of our approach include adherence to WHO standards and the « Health for All » principle, highlighting the dentist’s responsibility to society; the development of communication skills necessary for effective interaction with children facing communication challenges; the use of clinical cases in the educational process, which promotes the formation of a comprehensive approach to organizing patient appointments and treatment based on successful interactions with patients.

Lien vers le texte intégral (Open Access ou abonnement)

3. Ashwood P. One cell to rule them all: Immune regulation of the brain in autism spectrum disorder. Cereb Cortex. 2025; 35(4).

For 80 years there has been a link between autism and immune activation. Studies point to dysfunction in immune responses in peripheral blood, gut mucosa, and brain. Human postmortem brain studies in autism show increased differential expression of inflammatory immune genes, increased pro-inflammatory cytokine levels, and glial activation. Immune cells in the brain are comprised of both tissue-resident cells and those recruited from the blood. This includes regulatory T cells (Tregs) that foster immune tolerance and tissue repair. Tregs reduce microglial reactivity, assist in regenerative and reparative processes, and promote differentiation of myelin-producing oligodendrocytes in the brain, thus modulating white matter development. Neuroinflammation may be a universal autism phenotype independent of the underlying etiology that can be controlled by Tregs promoting homeostasis, microglia and oligodendrocyte function, and white matter development.

Lien vers le texte intégral (Open Access ou abonnement)

4. Ashworth E, Bray L, Hanlon C, Stanway H, Pavlopoulou G, Moore D, Donaghy B, Coen E, Firth E. ‘Accumulating harm and waiting for crisis’: Parents’ perspectives of accessing Child and Adolescent Mental Health Services for their autistic child experiencing mental health difficulties. Autism. 2025: 13623613251335715.

Autistic children and young people are at increased risk of mental health difficulties, but often face barriers when seeking help from Child and Adolescent Mental Health Services. This study aimed to (1) explore the experiences of parents/carers seeking help from Child and Adolescent Mental Health Services for their autistic child’s mental health difficulties, and (2) gain parents’ perceptions of the accessibility of Child and Adolescent Mental Health Services for their child. A mixed-methods survey design was used. In total, 300 parents/carers took part from across the United Kingdom. Quantitative data were analysed using descriptive statistics, and qualitative data using qualitative content analysis. Findings demonstrated ongoing struggles that parents/carers faced when seeking help from Child and Adolescent Mental Health Services. Those who were referred reported a lack of reasonable adjustments and offers of ineffective or inappropriate therapies. Ultimately, parents felt their child’s mental health difficulties either did not improve or declined to the point of crisis. However, there was a recognition that some professionals were kind and compassionate. There is a need for a more neuro-inclusive and personalised approach in Child and Adolescent Mental Health Services. Further research, funding and training are urgently needed to ensure support is accessible, timely and effective for autistic young people.Lay abstractAutistic children and young people are more likely to experience mental health difficulties than neurotypical peers, but also face more barriers when seeking help from Child and Adolescent Mental Health Services. Findings highlight the need for a more neuroaffirmative approach from the professionals themselves, in the adjustments offered, and in the therapies provided. Barriers to Child and Adolescent Mental Health Services for autistic children and young people include diagnostic overshadowing (i.e. assuming mental health difficulties are part of autism), high thresholds for assessment and a lack of professional knowledge about autism and care pathways. Healthcare policies should ensure that all Child and Adolescent Mental Health Services professionals receive neuroaffirmative training and that resources/funding are provided for appropriate adjustments and early support. There is also a need for further research and funding to develop and evaluate effective neuroaffirmative therapeutic interventions.

Lien vers le texte intégral (Open Access ou abonnement)

5. Bozzi Y. Unraveling white matter alterations in autism: the role of oligodendrocytes, microglia, and neuroinflammation. Cereb Cortex. 2025; 35(4).

Researchers are increasingly investigating the developmental origins of white matter alterations in autism spectrum disorder (ASD). A recent review by Canada, Evans, and Pelphrey highlights the roles of oligodendrocytes and microglia in ASD-related white matter abnormalities. Evidence suggests that ASD risk genes impact oligodendrocyte development and myelination, while microglia dysfunction due to immune challenges may further disrupt white matter formation. Emerging studies link neuroinflammation to altered white matter trajectories, supporting early intervention strategies. Future research integrating neuroimaging, genetics, and immune profiling may enhance our understanding and facilitate the development of targeted neuroimmune therapies for ASD.

Lien vers le texte intégral (Open Access ou abonnement)

6. Brannick SF. Risky business: How assumptions about evidence can exclude autistic voices. Autism. 2025: 13623613251339006.

Gestalt Language Development has been proposed as a theoretical foundation for neurodiversity-affirming intervention, yet its adoption remains controversial. Critics cite limited high-quality research as justification for rejecting its use, raising valid concerns about its scientific backing. However, such rejection rests on two assumptions that may lead to risky clinical decisions: (1) that research evidence should be the sole or primary driver of evidence-based practice and (2) that research-backed interventions are inherently neurodiversity-affirming. Using Gestalt Language Development as an example, this letter critiques these assumptions and illustrates how over-reliance on research alone-without integrating clinical expertise and autistic perspectives-can delay meaningful, inclusive care. I argue that centering autistic voices is essential to both neurodiversity-affirming practice and evidence-based decision-making. A more balanced model of evidence-based practice is needed-one that evaluates emerging interventions not only by their research base but also by their alignment with autistic values and their impact in clinical practice.Lay AbstractMany autistic individuals and clinicians find Gestalt Language Development to be a helpful approach for supporting autistic communication. However, some researchers argue that Gestalt Language Development should not be widely used until stronger research evidence is available. This argument introduces two risks. First, it assumes that research is the only kind of evidence that matters-overlooking the value of autistic lived experience and clinical expertise in making good intervention decisions. Second, it assumes that research-based interventions are automatically neurodiversity-affirming, even when they are developed without input from autistic people. This letter argues that excluding autistic voices from intervention decisions is risky. A more balanced approach to evidence-one that includes autistic perspectives, clinical expertise, and research-leads to inclusive, more responsive, and more effective support. While research on Gestalt Language Development is still growing, real-world experiences from autistic people and families offer valuable insight into what works and why it matters.

Lien vers le texte intégral (Open Access ou abonnement)

7. Canada K, Evans TM, Pelphrey KA. Microglial regulation of white matter development and its disruption in autism spectrum disorder. Cereb Cortex. 2025; 35(4).

White matter, comprising approximately 50% of the human brain, is crucial for efficient neuronal signaling and a wide range of brain functions, including social cognition, sensation, memory, motor control, and information integration across cortical brain regions in the service of perception and cognition. White matter, composed of myelinated axons, results from complex interactions between different cell types, with oligodendrocytes (OLs) and microglia playing integral roles. Microglia, the brain’s resident immune cells, regulate oligodendrogenesis through phagocytosis and molecular signaling, for example through cytokines, which promote and inhibit maturation stages of OL lineage cells. Maternal immune activation (MIA) is a recognized risk factor for neurodevelopmental disorders, especially autism spectrum disorder (ASD). The physiological presentation of ASD includes white matter abnormalities and immune dysregulation. Emerging evidence indicates that MIA may reduce microglial reactivity and alter cytokine release in offspring, potentially disrupting the delicate balance required for proper white matter development. Understanding the intricate interplay between oligodendrocytes, microglia, inflammation, and white matter development in the context of MIA provides valuable insights into the etiology of and core symptoms of ASD and possible therapeutic targets.

Lien vers le texte intégral (Open Access ou abonnement)

8. Cejas G, Steigerwald AJ, Chrisman M, Yadlapalli T, Beversdorf DQ. Relationship Between Antipsychotic Use and Cholesterol Levels in a Retrospective Chart Review of an Adult Autism Clinic Patient Population. Autism Res. 2025.

Individuals with autism spectrum disorder (ASD) experience a high prevalence of metabolic and gastrointestinal (GI) comorbidities. Antipsychotics are commonly prescribed for adults with ASD. Our study investigated the effect of antipsychotic medication on metabolic and GI comorbidities, as well as effects across age, in an adult ASD population. We retrospectively analyzed 279 charts from patients with ASD, ages 16-62 (mean = 27.97, SD = 8.89, 18.3% female). Data abstracted included demographic information, medications taken, GI and metabolic comorbidities, and recent values for body mass index (BMI), triglycerides, and total cholesterol. Participants were separated into two groups based on antipsychotic use. Between-group differences were calculated for the prevalence of GI comorbidities and mean values for BMI, triglycerides, and total cholesterol. Lastly, binary correlations were calculated for age and total cholesterol as well as triglycerides, and age and BMI. No significant difference was found between the prevalence of GI comorbidities for the two groups. For metabolic factors, no significant difference was found in the mean BMI, triglycerides, or total cholesterol. Binary correlation analysis also revealed no significant correlation between age and BMI or triglycerides for patients in either group. A significant correlation was found between age and total cholesterol for patients both taking and not taking antipsychotics. Despite approximately one in three patients in this study taking an antipsychotic medication, no significant differences in GI or metabolic comorbidities were found. However, cholesterol increased with age regardless of the presence or absence of antipsychotics. Future research is needed to better understand the long-term effects of antipsychotics on adults with ASD and metabolic monitoring in those not on antipsychotics.

Lien vers le texte intégral (Open Access ou abonnement)

9. Della-Flora Nunes G. Can microglia negatively impact myelin development in autism?. Cereb Cortex. 2025; 35(4).

There is emerging evidence for the involvement of microglia and oligodendrocytes in the pathophysiology of autism. The accompanying review article summarize this evidence and explore potential ways microglia can modulate oligodendrocyte function in autism. Further investigation of the role of microglia and oligodendrocytes in autism may help clarify autism pathogenesis and holds promise to ameliorate autism phenotypes.

Lien vers le texte intégral (Open Access ou abonnement)

10. Dunsky A, Barak S. A Six-Month Nordic Walking Program for Adults With Intellectual and Developmental Disabilities: Feasibility and Effect. J Appl Res Intellect Disabil. 2025; 38(3): e70063.

BACKGROUND: Individuals with intellectual and developmental disabilities tend to engage in low levels of physical activity, which puts them at risk for chronic health conditions, poor balance and gait difficulties. Nordic walking could improve gait, balance, strength, endurance and respiratory function while enjoying nature. METHOD: Thirty-four adults with intellectual and developmental disabilities were assessed for physical performance and emotional status before and after participating in a six-month intervention comprised of weekly Nordic walking sessions. Five staff members were also interviewed about the programme. RESULTS: Nordic walking was found to be feasible, with an average monthly attendance of 60.75%. Following the intervention, significant improvements were seen in lower-extremity strength, flexibility and waist-to-hip ratios. CONCLUSIONS: Nordic walking motivates participants to engage in physical activity, strengthens muscles, and increases flexibility. Thus, people who work with adults with intellectual and developmental disabilities may consider including Nordic walking in their health enhancement and maintenance programmes.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hrycko AJ, Sinderbrand M. Inpatient Hospitalization of Adolescents Diagnosed with Autism Spectrum Disorder: An Ethical Analysis. Am J Bioeth. 2025: 1-7.

Adolescents with Autism Spectrum Disorder (ASD) are admitted to inpatient psychiatric hospitalization (IPH) at an alarmingly high rate. IPH is often intended for the immediate benefit and betterment of the individual, however, the result often incurs a degree of harm on the adolescent. With the rising prevalence of ASD and lack of physicians with ASD care experience, the adolescent is left with inadequate treatment, causing heightened anxiety and behavioral regression. While IPH may offer temporary relief and behavior management, it lacks sustainable long-term benefits while conflicting with the bioethical principle of beneficence. Here, we argue for a paradigm shift toward outpatient preventative resources (OPR), providing individualized, community-based care aimed at preventing the need of IPH, using it as mainly a last resort. By reallocating funding from IPH to OPR, the overall patient outcomes and support for caregivers will improve and effectively will reduce the harm on the ASD adolescent.

Lien vers le texte intégral (Open Access ou abonnement)

12. Kaster L, Hillis E, Oh IY, Aravamuthan BR, Lanzotti VC, Vickstrom CR, Gurnett CA, Payne PRO, Gupta A. Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models. J Neurodev Disord. 2025; 17(1): 24.

BACKGROUND: Functional biomarkers in neurodevelopmental disorders, such as verbal and ambulatory abilities, are essential for clinical care and research activities. Treatment planning, intervention monitoring, and identifying comorbid conditions in individuals with intellectual and developmental disabilities (IDDs) rely on standardized assessments of these abilities. However, traditional assessments impose a burden on patients and providers, often leading to longitudinal inconsistencies and inequities due to evolving guidelines and associated time-cost. Therefore, this study aimed to develop an automated approach to classify verbal and ambulatory abilities from EHR data of IDD and cerebral palsy (CP) patients. Application of large language models (LLMs) to clinical notes, which are rich in longitudinal data, may provide a low-burden pipeline for extracting functional biomarkers efficiently and accurately. METHODS: Data from the multi-institutional National Brain Gene Registry (BGR) and a CP clinic cohort were utilized, comprising 3,245 notes from 125 individuals and 5,462 clinical notes from 260 individuals, respectively. Employing three LLMs-GPT-3.5 Turbo, GPT-4 Turbo, and GPT-4 Omni-we provided the models with a clinical note and utilized a detailed conversational format to prompt the models to answer: « Does the individual use any words? » and « Can the individual walk without aid? » These responses were evaluated against ground-truth abilities, which were established using neurobehavioral assessments collected for each dataset. RESULTS: LLM pipelines demonstrated high accuracy (weighted-F1 scores > .90) in predicting ambulatory ability for both cohorts, likely due to the consistent use of Gross Motor Functional Classification System (GMFCS) as a consistent ground-truth standard. However, verbal ability predictions were more accurate in the BGR cohort, likely due to higher adherence between the prompt and ground-truth assessment questions. While LLMs can be computationally expensive, analysis of our protocol affirmed the cost effectiveness when applied to select notes from the EHR. CONCLUSIONS: LLMs are effective at extracting functional biomarkers from EHR data and broadly generalizable across variable note-taking practices and institutions. Individual verbal and ambulatory ability were accurately extracted, supporting the method’s ability to streamline workflows by offering automated, efficient data extraction for patient care and research. Future studies are needed to extend this methodology to additional populations and to demonstrate more granular functional data classification.

Lien vers le texte intégral (Open Access ou abonnement)

13. Lee A, Park EJ, Kim Y. Family management styles of families of children and adolescents with developmental disabilities during the COVID-19 pandemic: a cross-sectional study. Sci Rep. 2025; 15(1): 15260.

Raising a child with developmental disabilities (DDs) involves both rewards and challenges, with family management styles influencing the quality of life (QoL) of both children and families, particularly during crises. This study identified family management styles and their relationships with the QoL of children and adolescents and family functioning during the COVID-19 pandemic. Conducted between September 2020 and October 2021, the study included 200 Korean parents of individuals with DDs under the age of 21. Online data collection assessed family management styles, family functioning, and children’s QoL. Cluster analysis and analysis of variance were used to identify family management styles and to compare demographics, family functioning, and QoL across groups, respectively. Three clusters were identified: « Thriving » (n = 20), « Somewhat Resilient » (n = 118), and « Struggling » (n = 62). The Thriving cluster demonstrated effective condition management, a positive outlook, and high parental cooperation. The Somewhat Resilient cluster displayed moderate functioning. The Struggling cluster demonstrated the greatest challenges and the lowest capacity for managing the condition. Significant differences in children’s QoL, family functioning, and demographic variables were observed across clusters. These findings highlight how families manage DDs during the pandemic and the need for tailored interventions based on family management styles.

Lien vers le texte intégral (Open Access ou abonnement)

14. Liu Y, Zhao Q, Zhao L, Liu Y, Li X. Modeling Temporal Dependencies in Brain Functional Connectivity to Identify Autism Spectrum Disorders Based on Heterogeneous rs-fMRI Data. Exp Neurobiol. 2025; 34(2): 77-86.

Brain functional connectivity has shown promise for developing objective biomarkers for autism spectrum disorder (ASD). Although many imaging studies have demonstrated its potential, most have focused on static measurements. In this study, we explored the dynamic changes in functional connectivity over time to uncover potential temporal dependencies. These dynamic patterns were abstracted into high-level representations and used as predictors to identify individuals at risk of ASD. To achieve this, we employed a deep learning framework that combines attention mechanism with long short-term memory (LSTM) neural network. Experiments were conducted using heterogeneous resting-state functional magnetic resonance imaging (rs-fMRI) data from the Autism Brain Imaging Data Exchange (ABIDE) database. The resulting classification achieved an accuracy of 74.9% and precision of 75.5% under intra-site cross-validation, outperforming traditional classifiers such as support vector machines (SVM), random forests (RF), and single LSTM network. Further analyses demonstrated the robustness and generalizability of our model, with classification performance less affected by subjects’ gender or age. The optimal model’s weights revealed atypical temporal dependencies in the brain functional connectivity of individuals with ASD, highlighting the potential for these patterns to serve as biomarkers. Our findings underscore the importance of dynamic functional connectivity in understanding ASD and suggest that our deep learning framework could aid in the development of more accurate and reliable diagnostic tools for this disorder.

Lien vers le texte intégral (Open Access ou abonnement)

15. Mahdi ES, Komijani M, Alaghmand A. Metagenomics study suggests the role of vitamins and gut microbiome in autism spectrum disorder. Digestion. 2025: 1-20.

INTRODUCTION: Autism is a neurological disability that often appears after the age of three in children, also known as an Autism Spectrum Disorder (ASD). Several studies have examined the influence of some environmental factors, and many parameters related to the behavior of autistic patients have been measured in order to find ways to reduce ASD. This study investigates the relationship between ASD and serum levels of vitamin D3, B12, folic acid, and the gut microbiome. METHODS: The serum levels of vitamin D3, B12, and folic acid in ASD patients were measured by the ELISA method and compared to healthy groups. DNA was extracted from stool samples of ASD patients and the control group, and then the gut microbiome was investigated via a metagenomics approach. Metagenomics sequencing was performed to analyze the 16S rRNA gene sequencing for phylum and sub phylum level microbiome. RESULT: The result showed no significant change in the VitD3 and folate levels of ASD patients compared to the control group (p=0.157 and p=0.0505, respectively). There was a significant difference in the VitB12 level between control healthy individuals and ASD patients, in which the serum VitB12 concentration was significantly lower than the control group (p=0.0001). Our results regarding gut metagenomics showed that the abundance of the Actinobacteria by the phylum level were significantly higher in the ASD patients compared to the control group (p=0.0013). The abundance of the Firmicutes by the phylum level were significantly lower in the ASD patients compared to the control group (p=0.0016).The abundance of Bifidobacteriaceae, and Ruminococcaceae by the family level were significantly higher in the ASD patients compared to the control group (p=0.0004. and p=0.0489, respectively).Our results indicated less species richness in the ASD patients compared to the control group. CONCLUSION: Patients with ASD have lower serum levels of vitamin B12 and different gut microbiome compared to healthy controls. Low vitamin B12 levels and altered gut microbiome are significantly associated with ASD in this study. However, further research is needed to determine whether these factors could serve as predictors of severe outcomes in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

16. McGugin RW, Newton AT, Lewis BJ, Convery CA, Eyoh EE, Gauthier I, Cascio CJ. Ultra-high resolution imaging of laminar thickness in face-selective cortex in autism. Cogn Affect Behav Neurosci. 2025.

Gray matter cortical thickness (CT) is related to perceptual abilities. The fusiform face area (FFA) (Kanwisher et al., The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 17, 4302-4311, 1997) in the inferior temporal lobe is defined by its face selectivity, and the CT of the FFA correlates with the ability to make difficult visual decisions (Bi et al., Current Biology, 24, 222-227, 2014; McGugin et al., Journal of Cognitive Neuroscience, 28, 282-294, 2016, Journal of Cognitive Neuroscience, 32, 1316-1329, 2020). In McGugin et al. Journal of Cognitive Neuroscience, 32, 1316-1329, (2020), individuals with better face recognition had relatively thinner FFAs, whereas those with better car recognition had thicker FFAs. This opposite correlation effect (OCE) for faces and cars was pronounced when we look selectively at the deepest laminar subdivision of the FFA. The OCE is thought to arise because car and face recognition abilities are fine-tuned by experience during different developmental periods. Given autism’s impact on face recognition development, we predicted the OCE would not appear in autistic individuals. Our results replicate the OCE in total FFA thickness and in deep layers in neurotypical adults. Importantly, we find a significant reduction of these effects in adults with autism. This supports the idea that the OCE observed in neurotypical adults has a developmental basis. The abnormal OCE in autism is specific to the right FFA, suggesting that group differences depend on local specialization of the FFA, which did not occur in autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

17. McQuaid GA, Lee NR, Wallace GL. Self-reported masking in sexual minority and heterosexual autistic adults. Autism. 2025: 13623613251335738.

Masking can include suppressing or concealing certain behaviors to appear « non-autistic » and is one response to the excess social stressors of being a neurominority in a neurotypical-majority society. It is important to understand how persons who are multiply marginalized (e.g. an autistic person assigned female sex at birth who is bisexual), who experience multiple layers of excess social stressors, may face additional pressures to conceal their authentic selves. Autistic persons may be more likely than neurotypical persons to identify with a sexual minority orientation, such as asexual, bisexual, gay or pansexual. To advance our understanding of how marginalized identities may be associated with masking, we examined self-reported masking using the Camouflaging Autistic Traits Questionnaire in a sample of autistic adults (N = 462). After matching participants for assigned sex at birth and age, and after controlling for these effects in modeling, we found that sexual minority autistic adults reported significantly higher levels of masking relative to heterosexual autistic adults. We situate these findings within literatures on masking, minority stress, and stigma.Lay AbstractMasking can include hiding certain behaviors to appear « non-autistic. » Masking is one response to the stress of being autistic in a non-autistic world. Being autistic is only one part of someone’s identity, though. Other parts of a person’s identity include things like a person’s sexual orientation. Autistic people are more likely than non-autistic people to have a sexual orientation other than heterosexual, like asexual, bisexual, gay, or pansexual. People who are both autistic and a sexual minority may experience social stress because of different pressures from society. These different pressures may mean sexual minority autistic adults feel pressured to social camouflage more than heterosexual autistic adults. Thus, we compared masking in sexual minority autistic and heterosexual autistic adults. In the statistical models, we controlled for two other factors that may impact masking: sex assigned at birth and age. We found that sexual minority autistic adults reported significantly higher levels of masking relative to heterosexual autistic adults. We discuss how these findings fit within previous research on masking and minority stress.

Lien vers le texte intégral (Open Access ou abonnement)

18. Mouat JS, Krigbaum NY, Hakam S, Thrall E, Kuodza GE, Mellis J, Yasui DH, Cirillo PM, Ludena YJ, Schmidt RJ, La Merrill MA, Hertz-Picciotto I, Cohn BA, LaSalle JM. Sex-specific DNA methylation signatures of autism spectrum disorder from whole genome bisulfite sequencing of newborn blood. Biol Sex Differ. 2025; 16(1): 30.

BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental conditions currently diagnosed through behavioral assessments in childhood, though neuropathological changes begin in utero. ASD is more commonly diagnosed in males, a disparity attributed to both biological sex differences and diagnostic biases. Identifying molecular biomarkers, such as DNA methylation signatures, could provide more objective screening for ASD-risk in newborns, allowing for early intervention. Epigenetic dysregulation has been reported in multiple tissues from newborns who are later diagnosed with ASD, but this is the first study to investigate sex-specific DNA methylation signatures for ASD in newborn blood, an accessible and widely banked tissue. METHODS: We assayed DNA methylation from newborn blood of ASD and typically developing (TD) individuals (discovery set n = 196, replication set n = 90) using whole genome bisulfite sequencing (WGBS). Sex-stratified differentially methylated regions (DMRs) were assessed for replication, comparisons by sex, overlaps with DMRs from other tissues, and enrichment for biological processes and SFARI ASD-risk genes. RESULTS: We found that newborn blood ASD DMRs from both sexes significantly replicated in an independent cohort and were enriched for hypomethylation in ASD compared to TD samples, as well as location in promoters, CpG islands, and CpG island shores. By comparing female to male samples, we found that most sex-associated DMRs in TD individuals were also found in ASD individuals, alongside additional ASD-specific sex differences. Female-specific DMRs were enriched for X chromosomal location. Across both sexes, newborn blood DMRs overlapped significantly with DMRs from umbilical cord blood and placenta but not post-mortem cerebral cortex. DMRs from all tissues were enriched for neurodevelopmental processes (females) and known ASD genes (both sexes). CONCLUSIONS: Overall, we identified and replicated a sex-specific DNA methylation signature of ASD in newborn blood that supported the female protective effect and highlighted convergence of epigenetic and genetic signatures of ASD in newborns. Despite the study’s limitations, particularly in female sample sizes, our results demonstrate the potential of newborn blood in ASD screening and emphasize the importance of sex-stratification in future studies. Autism spectrum disorder (ASD) is a group of conditions that affect the developing brain during pregnancy but is not diagnosed until childhood based on a behavioral test. Males are diagnosed with ASD more often than females, likely due to both biological sex differences and cultural biases. A molecular/biological test that can predict ASD risk in newborns would provide a more consistent and objective diagnosis and earlier interventions. DNA methylation marks help regulate our genes to respond to a changing environment. DNA methylation differences in ASD have been previously reported, but sex differences in ASD newborn blood have not been explored. We discovered ASD DNA methylation differences through whole-genome bisulfite sequencing in a discovery cohort (n = 196) and replicated findings in another (n = 90). ASD DNA methylation differences were strongest when samples were separated by sex. Females showed stronger and more consistent DNA methylation patterns related to ASD, supporting the “female protective effect,” which hypothesizes that females may require more substantial genetic or environmental changes to develop ASD. Female-specific DNA methylation changes in ASD were notably enriched on the X chromosome. We also observed overlap between ASD-related DNA methylation changes in newborn blood and other tissues (cord blood, placenta, and brain cortex), with significant enrichment for genes involved in neurodevelopment and known ASD-risk genes. These results highlight the potential utility of newborn blood in ASD screening and the importance of separating analysis by sex in future studies. eng.

Lien vers le texte intégral (Open Access ou abonnement)

19. Shin KC, Hasan W, Ali G, Abdelrahman D, Abuarja T, Stanton LW, Da’as SI, Park Y. Seizure-like behavior and hyperactivity in napb knockout zebrafish as a model for autism and epilepsy. Sci Rep. 2025; 15(1): 14579.

We identified N-ethylmaleimide-sensitive factor attachment protein beta (NAPB) as a potential risk gene for autism and epilepsy. Notably, Qatari monozygotic triplets with loss of function mutations in NAPB exhibit early onset epileptic encephalopathy and varying degrees of autism. In this study, we generated NAPB zebrafish model using CRISPR-Cas9-sgRNAs technology for gene editing of the two orthologs napba and napbb. We observed that napb crispants (CR) show shorter motor neuron axons length together with altered locomotion behavior, including significant increases in larvae total distance traveled, swimming velocity, and rotation frequency, indicating that these behavioral changes effectively mimic the human epileptic phenotype. We applied microelectrode array (MEA) technology to monitor neural activity and hyperactivity in the zebrafish model. The napb CR shows hyperexcitability in the brain region. By combining behavioral tests with electrophysiological MEA assays, the established NAPB zebrafish model can be employed to study the pathophysiological mechanisms of ASD and epilepsy to screen potential therapeutic drugs.

Lien vers le texte intégral (Open Access ou abonnement)

20. Silver H, Greenberg R, Siper PM, Zweifach J, Soufer R, Sahin M, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Kolevzon A, Grice DE, Buxbaum JD, Levy T. Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns. J Neurodev Disord. 2025; 17(1): 25.

BACKGROUND: SHANK2 disorder is a rare neurodevelopmental disorder caused by a deletion or pathogenic sequence variant of the SHANK2 gene and is associated with autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay. To date, research in SHANK2 has focused on laboratory-based in vivo and in vitro studies with few prospective clinical studies in humans. METHODS: A remote assessment battery was comprised of caregiver interviews with a psychiatrist, psychologists, and a genetic counselor, caregiver-reports, and review of records. Results from this cohort were reported using descriptive statistics. An age-matched sample of participants with SHANK3 haploinsufficiency (Phelan-McDermid syndrome, PMS) was used to compare adaptive behavior between the two groups. RESULTS: All ten participants demonstrated delays in adaptive behavior, with most motor skills preserved and a weakness in communication. According to parent report, 90% of participants carried a formal diagnosis of ASD, 50% of participants carried a diagnosis of attention-deficit/hyperactivity disorder (ADHD), and mild-to-moderate developmental delays were noted. Sensory hyperreactivity and seeking behaviors were more pronounced than sensory hyporeactivity. Medical features included hypotonia, recurrent ear infections, and gastrointestinal abnormalities. No similar facial dysmorphic features were observed. Compared to PMS participants, individuals with SHANK2 disorder had significantly higher adaptive functioning. CONCLUSIONS: Consistent with previous studies of SHANK2 disorder, these results indicate mild to moderate developmental impairment. Overall, SHANK2 disorder is associated with developmental and adaptive functioning delays, high rates of autism, including sensory symptoms and repetitive behaviors, and ADHD. This study was limited by its remote nature, diverse age range, and the homogeneous racial and ethnic sample. Future studies should examine larger, diverse cohorts, add cognitive testing, capture longitudinal data, and include in-person assessments.

Lien vers le texte intégral (Open Access ou abonnement)

21. Smith JR, Sengstack DG, McCoy AB, Lim S, Marler S, Williams ZJ, Hossain N, Luccarelli J. High-Frequency Utilization of the Outpatient Messaging System in a Specialized Outpatient Catatonia Clinic for Individuals with Autism Spectrum Disorder. J Child Adolesc Psychopharmacol. 2025.

Purpose: Catatonia is a highly morbid psychomotor disorder that impacts autistic adults and children. There is very little literature that describes outpatient catatonia management practices, none of which discusses the use of the electronic health record (EHR). Thus, we conducted this study to analyze patient messages in a specialized catatonia clinic. Methods: We conducted a retrospective analysis of messaging practices in the EHR for patients in a specialized clinic with autism and catatonia from July 1, 2021, to May 31, 2024. Catatonic symptom severity was recorded via the Bush Francis Catatonia Rating Scale (BFCRS), Kanner Catatonia Severity Scale (KCS), and Kanner Catatonia Examination (KCE). We conducted Spearman and Pearson correlation coefficients to determine whether a relationship exists between the frequency of patient messages, catatonic symptoms, and length of follow-up. Results: A total of 12,972 messages were sent to the health system or received by the patient or their family. Of those, 6375 (49.1%) messages were sent from the family to the health system. Relationships between message frequency to the health system and all baseline catatonia severity scores (BFCRS, KCS, KCE) were not statistically significant, although message frequency was strongly associated with length of follow-up (r = 0.65, p < 0.001). A total of 5555 (42.8%) messages were sent directly to or received from providers in the catatonia specialty clinic. The rate of messages to providers in the catatonia clinic was 2.9 messages/day. Conclusion: The frequency of patient messaging was high in this catatonia specialty clinic. Health systems should consider this possibility when planning for similar service lines.

Lien vers le texte intégral (Open Access ou abonnement)

22. Tabolacci C, Caruso A, Micai M, Galati G, Lintas C, Pisanu ME, Scattoni ML. Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview. Biomolecules. 2025; 15(4).

Autism spectrum disorder (ASD) is a genetically heterogeneous syndrome characterized by repetitive, restricted, and stereotyped behaviors, along with persistent difficulties with social interaction and communication. Despite its increasing prevalence globally, the underlying pathogenic mechanisms of this complex neurodevelopmental disorder remain poorly understood. Therefore, the identification of reliable biomarkers could play a crucial role in enabling early screening and more precise classification of ASD subtypes, offering valuable insights into its physiopathology and aiding the customization of treatment or early interventions. Biogenic amines, including serotonin, histamine, dopamine, epinephrine, norepinephrine, and polyamines, are a class of organic compounds mainly produced by the decarboxylation of amino acids. A substantial portion of the genetic variation observed in ASD has been linked to genes that are either directly or indirectly involved in the metabolism of biogenic amines. Their potential involvement in ASD has become an area of growing interest due to their pleiotropic activities in the central nervous system, where they act as both neurotransmitters and neuromodulators or hormones. This review examines the role of biogenic amines in ASD, with a particular focus on genetic alterations in the enzymes responsible for their synthesis and degradation.

Lien vers le texte intégral (Open Access ou abonnement)

23. Vaz JDS, Valle SC, Silva ES, Hoffmann LV, Luçardo J, Maia JC, Magalhães L, Castro K. Clinical protocol for nutritional screening in autism (PANA): a cross-sectional study protocol. BMJ Open. 2025; 15(4): e097321.

INTRODUCTION: Autism spectrum disorder (ASD) is often accompanied by a variety of comorbidities. A high prevalence of patients has difficulties with food intake, which can lead to malnutrition, obesity and dyslipidaemia. Although several factors influencing dietary intake in this population have been investigated in the literature, the lack of standardised assessment protocols has led to heterogeneous results across studies. This study protocol describes the methodology used to assess nutritional aspects such as feeding problems, food intake and biochemical variables in children and adolescents with ASD. METHODS AND ANALYSIS: The clinical protocol for nutritional screening in autism is a clinically based cross-sectional study design that focuses on the assessment of nutrition in children and adolescents with ASD aged 2 to under 19 years. Participants and caregivers are assessed in three clinical steps by a team of dietitians. Nutritional aspects are assessed, such as feeding behaviour (Brief Autism Mealtime Behavior Inventory, Children’s Eating Behavior Questionnaire), food intake (3 non-consecutive days of 24-hour food record), anthropometric measurements to calculate nutritional indicators according to WHO standards and blood samples (analysis of fasting glucose, triglycerides, total cholesterol and its subfractions). The data collected have the potential for descriptive and multivariate analyses to investigate associations among clinical, dietary difficulties, nutritional and biochemical variables. ETHICS AND DISSEMINATION: The study protocol was approved by the institutional review board of the Federal University of Pelotas (CAEE: 94253518.0.0000.5317). The results will be disseminated through peer-reviewed publications and conferences.

Lien vers le texte intégral (Open Access ou abonnement)

24. Wang ZH, Xu C, Ma YY, Xue WX, Wang HY, Fan LY, Zhang CY, Li L, Zhang XY, Zhu JN, Zhang QP. Oxytocin Improves Autistic Behaviors by Positively Shifting GABA Reversal Potential via NKCC1 in Early-Postnatal-Stage. Adv Sci (Weinh). 2025: e2415432.

Accumulating evidence has identified disrupted oxytocin signaling in both autistic patients and animal models of autism. Nevertheless, the specific timing of the impact of oxytocin on social behavior has remained unclear. Using mouse strains from oxytocin-Cre mice crossed with Cre-dependent chemogenetic mice, oxytocinergic neuronal activity is selectivity manipulated during the early or late postnatal stages and revealed, for the first time, that the suppression of oxytocinergic neurons in the early rather than late postnatal stage led to the emergence of autistic-like behaviors. Notably, significantly reduced oxytocin levels are identified specifically during the early postnatal stage in both valproic acid (VPA)-exposed and Fmr1-KO mouse brains, along with an impairment of the GABA reversal potential and downregulation of the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1) post-birth. Furthermore, chemogenetic activation of oxytocinergic neurons during the early rather than late postnatal stage effectively restored the aberrant NKCC1 expression and GABA(A) receptor reversal potential and consequently alleviated autistic-like behaviors in VPA-exposed mice. Overall, the results demonstrate that the early postnatal stage may be the unique critical period for oxytocin signaling to regulate GABA reversal potential and promote brain development for prosocial behaviors. These findings suggest an earlier intervention window and strategy for the clinical oxytocin treatment of autism.

Lien vers le texte intégral (Open Access ou abonnement)

25. Xie Q, Pan N, Ou X, Shen S, Jing J, Weng X, Shi L, Lin L, Yang J, Li X, Zhang K, Chen F, Wang Y, Wu J, Wang X. Chronic Physical Pain in Children With and Without Autism Spectrum Disorder in the United States: Findings from the 2016 – 2021 National Survey of Children’s Health. J Autism Dev Disord. 2025.

Individuals with autism spectrum disorder (ASD) have long been reported to exhibit atypical pain experiences. Chronic physical pain is a significant comorbidity in ASD, leading to substantial burdens on daily functioning and quality of life. This study aims to examine the potential associations between ASD and chronic physical pain, including its specific types. The study used data on chronic physical pain and headaches from the 2016 – 2021 National Survey of Children’s Health. Participants were children aged 3 to 17 years old. Generalized linear models were used to estimate the associations between ASD and pain-related indicators (e.g., chronic physical pain, headaches, and other back or body pain). The study included 177,539 children, of whom 5311 had a current ASD diagnosis. Among children with current ASD, 14.41% experienced chronic physical pain, with 4.86% reporting headaches and 9.56% reporting other back or body pain. Compared to those without, children with current ASD had higher odds of chronic physical pain [odds ratio (OR) = 1.76, 95% confidence interval (CI): 1.40 – 2.21]. Notably, the odds of headaches (OR = 1.78, 95% CI: 1.33 – 2.38) were higher than the odds of other back or body pain (OR = 1.62, 95% CI: 1.20 – 2.19). Children with current ASD were more likely to experience chronic physical pain than those without. This trend is more pronounced in headaches compared to other back or body pain. Our findings highlight the importance of prioritizing pain management in children with ASD through thorough physical assessments.

Lien vers le texte intégral (Open Access ou abonnement)

26. Zhang L, Guan X, Xue H, Liu X, Zhang B, Liu S, Ming D. Sex-specific patterns in social visual attention among individuals with autistic traits. BMC Psychiatry. 2025; 25(1): 440.

BACKGROUND: Autism is a neurodevelopmental condition more prevalent in males, with sex differences emerging in both prevalence and core symptoms. However, most studies investigating behavioral and cognitive features of autism tend to include more male samples, leading to a male-biased understanding. The sex imbalance limits the specificity of these features, especially in female individuals with autism. Hence, it is necessary to explore sex-related differences in behavioral-cognitive traits linked to autism in the general population. METHODS: In this study, we designed a dynamic emotion-discrimination task to investigate sex differences in attention to emotional stimuli among the general population with autistic traits. Behavioral and eye movement data were recorded during the task, and the Autism-Spectrum Quotient (AQ) was used to assess autistic traits. Qualitative and quantitative methods were used to analyze gaze patterns in male and female groups. Additionally, correlation analyses were conducted to examine the relationship between AQ scores and proportion of fixation time in both groups. RESULTS: Significant sex differences in attention to the eye regions of faces were observed, with females focusing more on the eyes than males. Correlation analyses revealed that, in males, lower eye-looking was associated with higher levels of autistic traits, whereas no such association was found in females. CONCLUSIONS: Overall, these results reveal that attention patterns to emotional faces differed between females and males, and autistic traits predicted the trend of eye-looking in males. These findings suggest that sex-related stratification in social attention should be considered in clinical contexts.

Lien vers le texte intégral (Open Access ou abonnement)

27. Zoltowski AR, Failla MD, Wu F, Convery CA, Lewis B, Woodward ND, Rogers BP, Cascio CJ. Insular functional connectivity in autistic and non-autistic development. Biol Psychol. 2025: 109043.

BACKGROUND: There is evidence for altered interoceptive processing in individuals diagnosed with autism, compared to non-autistic individuals. At a neural level, functional and structural connectivity of interoceptive cortices may differ in autism, though developmental patterns of these differences are unclear as well as how these patterns may vary by subregion within the insular cortex. To better understand the roles of autism, age, and subregion in interoceptive connectivity patterns, we used a cross-sectional approach to examine interoceptive functional connectivity across individuals spanning a wide age range. METHODS: N=59 autistic individuals (ages 7-54) and N=71 non-autistic individuals (ages 7-51) completed a resting-state functional magnetic resonance imaging scan. From these scans, we analyzed seed-based functional connectivity of insula subregions (posterior, middle, and anterior) by hemisphere. We analyzed associations with age, group, and interoceptive self-reported experiences, as measured in a subset of individuals who completed the Body Perception Questionnaire. RESULTS: We found that with age, primary interoceptive cortex showed decreased functional coupling with subcortical regions such as the thalamus and increased coupling with multimodal parietal regions. Functional connectivity within key interoceptive areas was decreased in those with increased reported body awareness. Differences between the autistic and non-autistic groups were minimal, with a single finding of heightened connectivity in autism between left posterior insula and lateral occipital cortex. CONCLUSIONS: These findings shed light on potential developmental shifts in how interoceptive processing is balanced between lower-order and higher-order areas. Further, they provide background for how autistic patterns of interoceptive processing may be considered relative to age.

Lien vers le texte intégral (Open Access ou abonnement)