1. Meeting Abstracts of the 1st Fragile X International Congress. Orphanet J Rare Dis;2025 (Apr 24);20(Suppl 1):173.

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2. Correction to « Behavioural Interventions to Treat Anxiety in Adults With Autism and Moderate to Severe Intellectual Disabilities: The BEAMS-ID Feasibility Study ». J Appl Res Intellect Disabil;2025 (Mar);38(2):e70056.

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3. Arancibia F, Rojas M, Becerra D, Fuenzalida R, Cea-Del Rio C, Mpodozis J, Sanhueza M, Nunez-Parra A. Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome. Biol Res;2025 (Apr 24);58(1):21.

Fragile X Syndrome (FXS) is the most common monogenetic cause of autism and inherited intellectual disability. A key feature of FXS symptomatology is altered sensory processing greatly affecting FXS individual’s life quality. Here, we use a combination of behavioral tests and slice physiology tools to study the neurophysiological alterations underlying aberrant sensory processing in the olfactory system of the FXS mouse model (Fmr1 KO). We focused on the piriform cortex (PC), since it is in this brain region where olfactory information is integrated and ultimately decoded. Using a go-no go behavioral task we have found that Fmr1 KO learn to discriminate between a rewarded and a not rewarded odorant but cannot distinguish complex odor mixtures, akin to what is found in the environment. Moreover, Fmr1 KO long-term memory is impaired compared to control mice suggesting possibly cortical processing alterations. In addition, electrophysiological data from PC layer II neurons of Fmr1 KO mice showed a hyperexcitable phenotype manifested by differences in active membrane properties and altered network connectivity. Taken together, our data suggest a possible causal link between the observed olfactory discrimination deficiencies in the Fmr1 KO mouse and the altered physiology of PC.

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4. Bagheri S, Yu JC, Gallucci J, Tan V, Oliver LD, Dickie EW, Rashidi AG, Foussias G, Lai MC, Buchanan RW, Malhotra AK, Voineskos AN, Ameis SH, Hawco C. Transdiagnostic Neurobiology of Social Cognition and Individual Variability as Measured by Fractional Amplitude of Low-Frequency Fluctuation in Autism and Schizophrenia Spectrum Disorders. Biol Psychiatry Cogn Neurosci Neuroimaging;2025 (Apr 21)

BACKGROUND: Fractional amplitude of low-frequency fluctuation (fALFF) is a validated measure of resting-state spontaneous brain activity. Previous fALFF findings in autism and schizophrenia spectrum disorders (SSDs) have been highly heterogeneous. We aimed to use fALFF in a large sample of typically developing control (TDC), autistic, and SSD participants to explore group differences and relationships with inter-individual variability of fALFF maps and social cognition. METHODS: FALFF from 495 participants (185 TDC, 68 autism, and 242 SSD) was computed using functional magnetic resonance imaging as signal power within two frequency bands (i.e., slow-4 and slow-5), normalized by the power in the remaining frequency spectrum. Permutation analysis of linear models was employed to investigate the relationship of fALFF with diagnostic groups, higher-level social cognition, and lower-level social cognition. Each participant’s average distance of fALFF map to all others was defined as a variability score, with higher scores indicating less typical maps. RESULTS: Lower fALFF in the visual and higher fALFF in the frontal regions were found in both SSD and autistic participants compared with TDCs. Limited differences were observed between autistic and SSD participants in the cuneus regions only. Associations between slow-4 fALFF and higher-level social cognitive scores across the whole sample were observed in the lateral occipitotemporal and temporoparietal junction. Individual variability within the autism and SSD groups was also significantly higher compared with TDC. CONCLUSIONS: Similar patterns of fALFF and individual variability in autism and SSD suggest some common neurobiological features across these related heterogeneous conditions.

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5. Bhattacharya B, Toor D, Chatterjee M. Connecting the dots: environmental pollution and Autism Spectrum Disorder. Rev Environ Health;2025 (Apr 25)

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behavior. While the exact etiology of ASD remains elusive, researchers have increasingly turned their attention to the role of environmental factors in its development. Among these factors, environmental pollution has emerged as a potential contributor to the rising prevalence of ASD cases worldwide. This review delves into the growing body of scientific evidence suggesting a significant association between environmental pollution and the risk of ASD. It explores the environmental pollution that have been implicated, including air pollution, water contaminants, heavy metals, pesticides, and endocrine-disrupting chemicals. The detrimental impact of these pollutants on the developing brain, particularly during critical periods of gestation and early childhood has been discussed. This will provide insights into the possible mechanisms by which the various pollutants may influence the neurodevelopmental pathways underlying ASD. Additionally, the potential interplay between genetic susceptibility and environmental exposure is explored to better understand the multifactorial nature of ASD causation. Considering the alarming increase in ASD prevalence and the ubiquity of environmental pollutants, this review emphasizes the urgent need for further investigation and the adoption of comprehensive preventive measures.

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6. Coburn KL, Shipley EP. « Do I Need Anything More Specific? »: Experiences of Autistic Participants in a Language-Focused Research Study. Am J Speech Lang Pathol;2025 (Apr 23):1-11.

BACKGROUND: Autistic advocates have called for researchers to engage with the needs and experiences of autistic people when planning and designing research studies. The purpose of the present study was to better understand the experiences of autistic adults participating in a language research study and how researchers can design more accessible future studies. METHOD: The present study was a secondary thematic analysis of data recorded during a larger study of spoken narratives by autistic adults. During virtual research interviews, participants frequently expressed comments about the nature of the research tasks and their experiences of participation in the study. The full interview transcripts were analyzed to identify data relating to participants’ subjective experiences of research participation. Thematic analysis was applied to transcripts of all comments not directly elicited by the structured narrative prompts. RESULTS: Four main topics and their subthemes were established based on analysis of the data set: processing strategies, attitudes toward research, awareness of the research process, and self-reflective comments about the narrative tasks. The main topics and their subthemes are discussed to derive insight into the experiences of autistic research participants. DISCUSSION: The findings are especially relevant to researchers and practitioners who conduct spoken language tasks with autistic people. To make research participation more accessible and affirming for autistic people, researchers can share specific information about what to expect before, during, and after participation.

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7. Contreras RC, Viana MS, Bernardino VJS, Santos FLD, Toygar Ö, Guido RC. A multi-filter deep transfer learning framework for image-based autism spectrum disorder detection. Sci Rep;2025 (Apr 24);15(1):14253.

Autism Spectrum Disorder (ASD) affects approximately [Formula: see text] of the global population and is characterized by difficulties in social communication and repetitive or obsessive behaviors. Early detection of autism is crucial, as it allows therapeutic interventions to be initiated earlier, significantly increasing the effectiveness of treatments. However, diagnosing ASD remains a challenge, as it is traditionally carried out through methods that are often subjective and based on interviews and clinical observations. With the advancement of computer vision and pattern recognition techniques, new possibilities are emerging to automate and enhance the detection of characteristics associated with ASD, particularly in the analysis of facial features. In this context, image-based computational approaches must address challenges such as low data availability, variability in image acquisition conditions, and high-dimensional feature representations generated by deep learning models. This study proposes a novel framework that integrates data augmentation, multi-filtering routines, histogram equalization, and a two-stage dimensionality reduction process to enrich the representation in pre-trained and frozen deep learning neural network models applied to image pattern recognition. The framework design is guided by practical needs specific to ASD detection scenarios: data augmentation aims to compensate for limited dataset sizes; image enhancement routines improve robustness to noise and lighting variability while potentially highlighting facial traits associated with ASD; feature scaling standardizes representations prior to classification; and dimensionality reduction compresses high-dimensional deep features while preserving discriminative power. The use of frozen pre-trained networks allows for a lightweight, deterministic pipeline without the need for fine-tuning. Experiments are conducted using eight pre-trained models on a well-established benchmark facial dataset in the literature, comprising samples of autistic and non-autistic individuals. The results show that the proposed framework improves classification accuracy by up to [Formula: see text] points when compared to baseline models using pre-trained networks without any preprocessing strategies – as evidenced by the ResNet-50 architecture, which increased from [Formula: see text] to [Formula: see text]. Moreover, Transformer-based models, such as ViTSwin, reached up to [Formula: see text] accuracy, highlighting the robustness of the proposed approach. These improvements were observed consistently across different network architectures and datasets, under varying data augmentation, filtering, and dimensionality reduction configurations. A systematic ablation study further confirms the individual and collective benefits of each component in the pipeline, reinforcing the contribution of the integrated approach. These findings suggest that the framework is a promising tool for the automated detection of autism, offering an efficient improvement in traditional deep learning-based approaches to assist in early and more accurate diagnosis.

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8. Corbett BA, McGonigle T, Muscatello RA, Vandekar S, Calvosa R. The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth. Mol Autism;2025 (Apr 24);16(1):27.

BACKGROUND: Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years). METHODS: In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior. RESULTS: For cortisol, there was a significant diagnosis by sex by age interaction (X(2) = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X(2) = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X(2) = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X(2) = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements. LIMITATIONS: Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children. CONCLUSIONS: Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females.

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9. Costache ME, Gioia F, Vanello N, Greco A, Capobianco A, Weibel S, Weiner L. Dialectical behavior therapy in autistic adults: effects on ecological subjective and physiological measures of emotion dysregulation. Borderline Personal Disord Emot Dysregul;2025 (Apr 23);12(1):14.

BACKGROUND: Although Ecological Momentary Assessment (EMA) and physiological measurements provide a valuable opportunity to evaluate therapeutic interventions in real time, no study has used this approach to assess Dialectical Behavior Therapy (DBT) in autistic adults with high levels of emotion dysregulation (ED). METHODS: In this study, 26 autistic adults were evaluated before and after participating in a standard 5-month DBT program, using Ecological Momentary Assessment (EMA). The EMA included: (1) twelve evaluations per day over a 7-day period, measuring alexithymia, emotional states, subjective arousal and emotion control; (2) continuous physiological monitoring with a wristband to record heart-rate (HR), heart-rate variability (HRV) and skin conductance levels (SCL). RESULTS: Following DBT, no significant differences were found with respect to negative emotions and higher conflicting emotions, but increased rates of identified emotions, positive emotions and emotion control were found. Baseline autonomic responses remained unchanged, whereas subjective arousal was found to correlate positively with HRV. Overall, these results suggest that participants showed enhanced emotion awareness and emotion regulation capabilities following DBT. CONCLUSION: Our study adds to previous research showing that DBT is efficient in treating ED in autistic adults, using real-time measurements of subjective and physiological markers collected through EMA. Specifically, alexithymia measures decreased post-DBT while positive emotions and emotion control increased. Randomized controlled trials should consider using these methods to improve the assessment of the impact of DBT in the daily life of autistic individuals with ED and/or suicidal behavior.

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10. Cvitanovic M, Steinberg J, Hing KL, Seay-Morrison T, Srinivasan M, Young A, Respicio K, Digre S, Vega C, Hui F, Taylor S, Clarke L, Walls SC, Rosas LG, Tabor HK. Telemedicine Experiences of Adults with Intellectual and/or Developmental Disabilities During the COVID-19 Pandemic: Lessons for Future Accessibility. J Gen Intern Med;2025 (Apr 24)

BACKGROUND: Telemedicine has experienced dramatic increases in availability and use, particularly during the COVID-19 pandemic. However, it is largely unknown whether adults with intellectual and/or developmental disabilities (AIDD) can utilize telemedicine and have access to high-quality telemedicine care. Few studies have asked AIDD about their experiences with telemedicine. Existing studies have primarily focused on specialty care for IDD diagnoses, pediatric populations, or care in non-US settings. OBJECTIVE: Characterize the experiences of AIDD with telemedicine using a community-based participatory research (CBPR) approach. DESIGN: A Community Advisory Board of AIDD and non-AIDD co-designed the study and focus group guide. Six virtual focus groups were conducted, four with AIDD and two with caregivers of AIDD (CAIDD), to solicit their experiences with and perspectives about telemedicine during the COVID-19 pandemic. PARTICIPANTS: Twenty-one AIDD and 13 CAIDD, recruited through community organizations and snowball sampling. APPROACH/MAIN MEASURES: Content analysis of focus group transcripts using consensus coding amongst three coders. KEY RESULTS: Most AIDD in the study had participated in telemedicine. Positive experiences/benefits included (1) convenience and privacy; (2) minimizing IDD-specific in-person challenges; and (3) reducing COVID-19 risks and facilitating triage. Negative experiences and challenges included (1) IDD-specific communication challenges; (2) concerns about the need for « hands-on stuff »; and (3) challenges with technology access and abilities. Participants had mixed experiences with tele-mental healthcare. Some worried about challenges arising from a post-pandemic return to in-person care for AIDD. CONCLUSIONS: Participants found telemedicine beneficial, specifically in ways that mitigate existing barriers AIDD experience accessing and managing healthcare visits. While some of these benefits also exist for non-AIDD populations, they have specific potential to reduce health disparities for AIDD, even outside of a pandemic context. CBPR approaches centering AIDD voices are needed to validate and extend these results and to develop and test solutions.

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11. Ghanouni P, Naimpally T. Insights into healthcare services for youth with autism spectrum disorder transitioning to adulthood: a focus on rural Atlantic Canada. BMC Health Serv Res;2025 (Apr 23);25(1):584.

Individuals with neurodevelopmental disabilities, such as autism spectrum disorder (ASD) often require unique healthcare services. As adolescents age out of the pediatric health system, accessing appropriate healthcare becomes more challenging during the transition to adulthood. This challenge is amplified for individuals with ASD living in rural areas where access to healthcare services is limited. The aim of this qualitative study was to explore the experiences of stakeholders, including individuals with ASD, parents of individuals with ASD, and service providers, during the transition to adulthood in rural communities. MethodsWe recruited 26 individuals including 16 youth, 6 parents and 4 service providers through convenience and snowball sampling methods from Canadian Atlantic provinces. Semi-structured interviews were conducted, focusing on barriers and challenges encountered during the transition.ResultsThematic analysis was employed to identify patterns and themes within the data. Three central themes emerged from the data including transport to and from care, limited resources, and continuity of care.ConclusionThe findings underscore the significant challenges faced by individuals with ASD and their families during the transition to adulthood in rural areas. By understanding and addressing these challenges, stakeholders can work towards implementing informed policies to ensure equitable access to healthcare services for individuals with ASD transitioning to adulthood in rural areas.

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12. Iwata K, Nakabayashi K, Ishiwata K, Nakamura K, Kameno Y, Hata K, Matsuzaki H. Genome-wide DNA methylation profiles in the raphe nuclei of patients with autism spectrum disorder. Psychiatry Clin Neurosci;2025 (Apr 24)

AIM: Autism spectrum disorder (ASD) has a strong genetic basis, yet its genetic complexities remain elusive. Current research highlights environmental factors and epigenetic processes, such as DNA methylation, as crucial in ASD development. This exploratory study addresses a gap in understanding epigenetic regulation in the dorsal raphe (DR)-a region regulating multiple neurotransmitters and implicated in ASD-by examining DNA methylation profiles in postmortem ASD and control brains. METHODS: We comprehensively analyzed genome-wide DNA methylation profiles in the DR brain region (seven controls and five ASD) using the Infinium HumanMethylation450 BeadChip (Illumina). Additionally, quantitative polymerase chain reaction was used to measure messenger RNA levels of differentially methylated genes in ASD (11 controls and six ASD). RESULTS: We identified differentially methylated regions (DMRs) between ASD and controls. These DMRs were located among various genomic regions, including promoters, gene bodies, and intergenic regions. Notably, we found hypermethylation in genes related to olfaction (e.g. OR2C3), which is regulated by serotonin. Additionally, we observed that the hypomethylation of promoter-associated CpG islands in RABGGTB, a gene related to autophagy and synaptic function, corresponded with its increased expression. CONCLUSIONS: Our findings reveal extensive DNA methylation changes in critical genomic regions, shedding light on potential mechanisms underlying ASD. The identification of RABGGTB as a novel candidate gene, not listed in the SFARI database, underscores its significance and warrants further research to explore its role in ASD diagnosis. This study enhances our understanding of the epigenetic landscape in ASD, emphasizing the interplay between genetic and environmental factors in its pathophysiology.

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13. John JR, Lam-Cassettari C, Dissanayake C, Eapen V. Sociodemographic and clinical indicators associated with quality of life among parents of autistic children. BMC Pediatr;2025 (Apr 24);25(1):326.

BACKGROUND: Evidence suggests that parents/carers of autistic children have lower subjective physical and mental health which in turn can affect their overall quality of life (QoL). The aim of this study was to determine the relationship between the behavioural and emotional profile of autistic preschool children, parental stress, and an Autism (ASD) specific measure of the parental QoL using a sociodemographic lens. METHODS: A secondary analysis of the data collected from parents of autistic children from six Autism Specific Early Learning and Care Centres (ASELCCs) across six states in Australia. The standardised Quality of Life in Autism scale (QoLA) scale was used as the primary outcome to ascertain the QoL of parents/carers. Primary exposure included child’s autistic traits as well as cognitive, adaptive, and behavioural profile; parental stress; and key sociodemographic factors. Multivariable linear regression analyses were used to determine whether the sociodemographic factors and child’s autistic traits were significantly associated with parental QoL whilst adjusting for key sociodemographic factors (for the latter). RESULTS: Among a sample of 518 participants, findings of the regression analyses showed that sibling’s ASD diagnosis and carer’s disability status were negatively associated with parental QoL (Part A) whereas only sibling’s ASD diagnosis was negatively associated with parental QoL (Part B). Additionally, higher parental stress levels, child’s internalising, externalising, repetitive behaviours, and communication difficulties were negatively associated with both parental QoL subscales whereas greater adaptive functioning among autistic children was positively linked to better parental QoL. CONCLUSION: Findings indicate that a child’s autism specific traits as reported by parents have significant impacts on their QoL. Hence, targeted supports in these areas for families could be expected to have benefits not only for the child’s outcomes but also for parental QoL.

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14. Kaljusto HK, Wilson E, Fletcher-Watson S. Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?. Am J Med Genet B Neuropsychiatr Genet;2025 (Apr 24):e33030.

Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board. We investigated whether influential genetic autism research shows evidence of engagement with the autistic community via indicators in published article texts. Through text mining of the abstracts of articles mentioning the words « autism » or « autistic, » we found minimal prevalence of progressive terminology associated with autism. We also devised a novel rating system to assess three hallmarks of autistic community engagement: presence of non-stigmatizing language, referencing community priorities, and the use of participatory methods. We reviewed 149 articles within leading autism and genetic journals. Minimal evidence of engagement with the autistic community was found within all three hallmarks. Genetics researchers focused on autism should embrace opportunities to engage with the autistic community to bring their work into closer alignment with their priorities, yielding scientific and moral benefits.

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15. Karni-Visel Y, Roth D, Lev S, Werbeloff N. Quality of life and mental health in families of children with developmental disabilities during wartime. Psychol Trauma;2025 (Apr 24)

OBJECTIVE: Children with developmental disabilities (DD) tend to be disproportionately affected by disasters, including war, which can result in a pervasive loss of personal and social resources. While existing research has primarily focused on individual resource loss following such events, limited attention has been given to the broader impact on families caring for children with DD. This study aims to assess the family quality of life (FQoL) and mental health of parents of children with DD during wartime. METHOD: We conducted an online survey, including closed and open-ended questions, and used mixed methods to analyze the responses. A sample of 408 parents completed questionnaires regarding their FQoL attainment and mental health before and during wartime. RESULTS: A decline in mental health and FQoL attainment was observed across all life domains during wartime among caregivers of children with DD. The functioning of educational frameworks and familial sociodemographic characteristics contributed directly and indirectly to FQoL attainment during wartime. The qualitative analyses revealed a complementary picture through caregivers’ insights into the contexts and elements underlying the quantitative findings. CONCLUSION: Caregivers of children with DD face significant adverse effects on their mental health and FQoL during wartime. These findings are discussed in the context of resource availability as a critical determinant of quality of life for families raising children with disabilities in a home environment during wartime. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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16. Lenz S, Sivaloganathan A, Goodman SJ, Cytrynbaum C, Rapley J, Canning E, Baribeau D. Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation. J Neurodev Disord;2025 (Apr 24);17(1):21.

OBJECTIVE: Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of this study was to examine and compare behavioural profiles and longitudinal psychotropic treatment patterns in children with epigenetic/chromatin variants, other rare variants impacting neurodevelopment, or no known genetic condition. METHODS: Using electronic medical records from a pediatric psychopharmacology program for children with autism or intellectual disability, we compared clinical characteristics, longitudinal psychotropic medication profiles and side effects between those with and without a rare genetic variant, and by variant subtype [epigenetic/chromatin regulation or other variant]. RESULTS: A total of 331 children attended 2724 unique medical visits between 2019 and 2022, with a mean of 8 follow-up visits over 3.4 years. Nine children (3%) had variants in epigenetic/chromatin regulatory genes (EC), twenty-three children (7%) had other rare genetic variants (OTH), and the rest had no reported variant (NR, n = 299, 90%). Those with a rare genetic variant (EC or OTH) were more likely to have an intellectual disability and had a greater number of co-occurring physical health conditions (p < 0.01). Overall, 66% of psychotropic medications were continued for ≥ 3 visits, while 26% were discontinued. Rates of psychotropic polypharmacy, medication patterns, behavioural challenges, and co-occurring developmental diagnoses were similar between genetic groups. Analyses uncorrected for multiple comparisons suggested those with genetic variants were more likely to experience drowsiness/sedation as a side effect (EC 33%, OTH 35%, NR 16%, p < 0.05); weight gain as a side effect was also higher in the epigenetic/chromatin group (EC 50% vs OTH 11%). CONCLUSION: Genetic classification of neurodevelopmental disorders (NDDs) may help anticipate treatment tolerability; additional prescribing considerations may be needed for those with rare variants. Current psychotropic prescribing practices do not differ across rare genetic NDD subgroups.

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17. Li CV, Knoblich JA. Advancing autism research: Insights from brain organoid modeling. Curr Opin Neurobiol;2025 (Apr 24);92:103030.

Autism Spectrum Disorders (ASD) are characterized by a variety of behavioral symptoms and a complex genetic architecture, posing significant challenges in understanding the mechanistic processes underlying their pathology. Despite extensive research, the mechanisms linking genetic variations to the phenotypic outcomes associated with ASD remain elusive. Consistent evidence indicates disruptions in early brain development among individuals with ASD. The advent of brain organoids offers a unique opportunity for uncovering, how brain development changes in ASD patients. Brain organoids are three-dimensional in vitro model systems derived from pluripotent stem cells that recapitulate early human brain development across multiple biological levels. They have become an invaluable tool for studying human-specific brain development processes and neurodevelopmental disorders. In this review, we discuss recent findings using brain organoid technologies to model ASD and discuss, how these new technologies can enhance our understanding of ASD genetics and pathology at the molecular, cellular, and tissue levels.

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18. Looi MK. Trump watch: What are the US government’s plans for autism?. Bmj;2025 (Apr 24);389:r820.

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19. Looi MK. Trump watch: Leaked plan to slash NIH budget in half, CDC contradicts RFK Jr on autism, and more. Bmj;2025 (Apr 23);389:r798.

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20. McKinney WS, Tadevich LJ, Schmitt LM, Horn PS, Ruberg JR, White SW, Reisinger DL, Burkett KW, Sarawgi S, Kang S, Shaffer RC. Study protocol for a randomized controlled trial of Regulating Together (RT), a group therapy for emotion dysregulation in school-age autistic youth and their caregivers. BMC Psychol;2025 (Apr 24);13(1):436.

BACKGROUND: Emotion dysregulation is a common concern in autistic youth. Growing evidence suggests emotion dysregulation underlies multiple co-occurring issues in autism, including externalizing (e.g., aggression, irritability) and internalizing (e.g., anxiety, depression) disorders, and thus may serve as a key transdiagnostic treatment target. Emotion dysregulation during middle childhood (8-12 years) is concurrently and longitudinally associated with social difficulties and poorer quality of life for autistic individuals, highlighting a key window for intervention. There is an urgent need for treatments for emotion dysregulation in school-age autistic youth that involve caregivers to maximize skill generalization. To address this need, our group developed Regulating Together, an intensive outpatient group program targeting emotion dysregulation in 8- to 12-year-old autistic youth that integrates strategies from cognitive behavioral therapy, mindfulness and acceptance-based therapies, and parent training programs. Building on our previous non-randomized trials of Regulating Together, we document the study protocol for our first, and ongoing, randomized controlled trial comparing Regulating Together to an active control condition. METHODS: This is a five-year randomized controlled trial comparing Regulating Together to Achieving Independence and Mastery in School (AIMS), an active control condition targeting executive functioning difficulties, in an outpatient hospital setting. Enrollment is ongoing and the study is expected to be completed in late Fall of 2026. Participants will be 144 autistic youth (8-12 years; IQ ≥ 65) randomized to either 5-week treatment condition. A comprehensive assessment battery integrating self-, caregiver-, and clinician-report information, functional outcomes (i.e., number of psychiatric hospitalizations), objective outcomes (probabilistic reversal learning task), and biobehavioral measures (heart rate variability) will be collected and compared between baseline (Week 0), post-treatment (Week 7), post-generalization (Week 16), and at long-term follow-up (Week 29). DISCUSSION: This is the first comparison of the Regulating Together program to an active treatment condition. Findings from this study will build on previous piloted iterations of Regulating Together by characterizing its efficacy in relation to active treatment, testing moderators of treatment response, and identifying barriers and facilitators to treatment access, impact, and sustainability. Following completion of this study, we will pursue implementation studies (e.g., testing program implementation and effectiveness in community settings). Dissemination and external provider training efforts are ongoing. TRIAL REGISTRATION: Trial registration took place through ClinicalTrials.gov (NCT05803369) on March 14th, 2023.

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21. Minnigulova A, Protopova M, Dragoy O, Arutiunian V. Atypical Social Behavior is Predicted by Overconnectivity Between Salience and Default Mode Networks in Autism Spectrum Disorder. J Autism Dev Disord;2025 (Apr 24)

As Default Mode and Salience networks (DMN, SN) contribute to social behavior and switching between inner and outer attention, they are believed to function and develop differently in individuals with Autism Spectrum Disorder (ASD). However, it remains unclear what alterations of their interactivity are connected to certain autistic traits and how age influences these networks’ maturing. Behavioral (social responsiveness, executive functions and communication skills) and resting-state functional connectivity (FC) data from the Autism Brain Imaging Data Exchange were analyzed comprising individuals with ASD (n = 144) and healthy controls (n = 99). We compared FC between the groups investigating DMN and SN separately and in combination. Finally, we assessed FC-behavior links in the ASD group and age effects on FC across these networks in both samples. Individuals with ASD exhibited increased FC between DMN and SN but decreased one within DMN compared to the control group. FC between right insular and medial prefrontal cortices predicted more severe social responsiveness impairments in ASD but there were no significant associations with executive functions nor adaptive behavior. Additionally, DMN and SN matured in ASD with partly different patterns than in typical development. Our results replicated and expanded previous findings on DMN and SN pointing to robust differences within and between these networks in ASD and their contribution to autistic traits regarding social responsiveness.

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22. Osman R, Lamash L. Smart glasses for remote assistance: analysing usability and optimal user characteristics among young adults with and without autism. Disabil Rehabil Assist Technol;2025 (Apr 24):1-15.

PURPOSE: Young adults with autism spectrum disorder (ASD) often face challenges achieving independence and require ongoing support from caregivers. Smart glasses can develop skills and provide remote support, but user discomfort suggests further investigation into their usability and suitability. MATERIALS AND METHODS: This study assesses smart glasses’ usability, comparing young adults (20-34 years) with (n = 22) and without (n = 22) ASD performing an online shopping task (OST). It explores correlations between usability and users’ cognitive, sensory and emotional characteristics. Assessments included demographics, Adolescent/Adult Sensory Profile, Behaviour Rating Inventory of Executive Function-Adult (BRIEF-A) and Depression and Anxiety Stress Scale (DASS) and post-task, the Usefulness, Satisfaction and Ease-of-Use (USE) and Post-Study System Usability Questionnaire (PSSUQ). RESULTS: Findings showed good usability for both groups (PSSUQ M = 2.82; USE M = 5.29; SD = 0.81). The ASD group showed more difficulty in the ease-of-use category. Sensory characteristic correlations were found between the USE usability score and low registration (r = -0.40, p = 0.01) and between the PSSUQ and low registration (r = 0 .34, p < 0.05), seeking (r = -0.35, p < 0.05) and sensitivity (r = 0.35, p < 0.05). Correlations were found between PSSUQ and BRIEF-A for cognitive (r = 0.36, p < 0.05) and PSSUQ and DASS for emotional (r = 0.30, p = 0.05) characteristics. Cluster analysis identified a subgroup (n = 19; 43.2%) more suited for smart glasses, with higher seeking behaviours and executive functions, lower sensitivities and negative emotional states. CONCLUSIONS: Findings highlight smart glasses' potential for providing remote support. Enhancing Autonomy through Remote SupportSmart glasses can effectively provide remote assistance for young adults with autism spectrum disorder (ASD), helping them perform daily tasks independently. This technology can also be used in rehabilitation to promote autonomy and reduce reliance on in-person support.Tailoring Technology to Individual NeedsThe usability of smart glasses is influenced by the user’s sensory, cognitive and emotional characteristics. Rehabilitation professionals should consider these differences when implementing smart glasses in therapeutic settings to optimise user experience and task performance.Potential for Broader ApplicationBeyond ASD, the findings indicate that smart glasses can benefit a wide range of populations with diverse rehabilitation needs. By offering hands-free support and enhancing interaction with the environment, this technology can be tailored to individual requirements, improving engagement and outcomes in the rehabilitation process. eng

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23. Qi L, Yang J, Niu Q, Li J. Exploring pesticide risk in autism via integrative machine learning and network toxicology. Ecotoxicol Environ Saf;2025 (Apr 24);297:118233.

Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental condition influenced by both genetic and environmental factors, including pesticide exposure. This study aims to investigate the pathogenic mechanisms of ASD and identify potential causative pesticides by integrating bioinformatics, machine learning, network toxicology, and molecular docking approaches. A total of 156 differentially expressed genes (128 upregulated and 28 downregulated) were identified from ASD-related transcriptomic datasets. Using the LASSO algorithm, 23 key targets were initially selected. Each combination of 1-23 targets was used to construct predictive models using eight different machine learning algorithms. The Stochastic Gradient Descent (SGD) model demonstrated the best predictive performance for 20 features, which were defined as hub targets. These targets were subsequently used in a network toxicology framework to screen for associated environmental toxicants. Three pesticide candidates-epoxiconazole, flusilazole, and DEET-were identified as strongly interacting with these core targets. Molecular docking analysis further validated stable binding affinities between these pesticides and the hub targets. Functional enrichment analysis revealed significant involvement of glycosylation-related pathways, including mucin-type O-glycan biosynthesis, implicating potential mechanisms in ASD pathogenesis. Collectively, our findings highlight novel biomolecular links between pesticide exposure and ASD risk, and propose a set of candidate biomarkers and toxicants for further experimental validation and regulatory consideration.

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24. Sciaraffa N, Santoni D, Li Greci A, Genovese SI, Coronnello C, Arancio W. Transcripts derived from AmnSINE1 repetitive sequences are depleted in the cortex of autism spectrum disorder patients. Front Bioinform;2025;5:1532981.

AIMS: Autism spectrum disorder (ASD) is a brain developmental disability with a not-fully clarified etiogenesis. Current ASD research largely focuses on coding regions of the genome, but up to date much less is known about the contribution of non-coding elements to ASD risk. The non-coding genome is largely made of DNA repetitive sequences (RS). Although RS were considered slightly more than « junk DNA », today RS have a recognized role in almost every aspect of human biology, especially in developing human brain. Our aim was to test if RS transcription may play a role in ASD. METHODS: Global RS transcription was firstly investigated in postmortem dorsolateral prefrontal cortex of 13 ASD patients and 39 matched controls. Results were validated in independent datasets. RESULTS: AmnSINE1 was the only RS significantly downregulated in ASD specimens. The role of AmnSINE1 in ASD has been investigated at multiple levels, showing that the 1,416 genes containing AmnSINE1 are associated with nervous system development and autism susceptibility. This has been confirmed in a different experimental setting, such as in organoid models of the human cerebral cortex, harboring different ASD causative mutations. AmnSINE1 related genes are transcriptionally co-regulated and are involved not only in brain formation but can specifically be involved in ASD development. Looking for a possible direct role of AmnSINE1 non-coding transcripts in ASD, we report that AmnSINE1 transcripts may alter the miRNA regulatory landscape for genes involved in neurogenesis. CONCLUSION: Our findings provide preliminary evidence supporting a role for AmnSINE1 in ASD development.

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25. Shokouhi-Tabar M, Maarefi M, Abbasi Yazdi E, Hassanvand-Amouzadeh M, Alimadadi E, Taheri-Kharameh Z. Influence of spirituality and religiosity on perceived social stigma among Iranian caregivers of children with autism spectrum disorder. BMC Psychol;2025 (Apr 24);13(1):432.

BACKGROUND: The perceived social stigma of caregivers of children with autism spectrum disorder (ASD) may negatively affect caregivers’ mental health and, consequently, the quality of care for these children. Religious and spiritual well-being may serve as protective factors against such stigma. This study aimed to examine the relationship between spirituality, religiosity, and perceived social stigma among caregivers of children with ASD. METHOD: This cross-sectional study was conducted from September 2022 to June 2023 in Qom, Iran. A total of 102 caregivers were recruited from specialized rehabilitation centers through convenience sampling. Participants completed the Multidimensional Inventory for Religious-Spiritual Well-being (MI-RSB 48) and the Stigma Scale for Chronic Illnesses (SSCI-8), along with a demographic questionnaire. Data were analyzed using descriptive statistics and multiple regression analysis. RESULTS: The mean perceived social stigma score was 16.85 ± 6.76, with 45.5% of participants reporting higher-than-average social stigma. All dimensions of spiritual-religious well-being, except belief in the afterlife and the experience of meaning, showed a significant negative correlation with perceived social stigma (P < 0.05). Multiple regression analysis revealed that the child's age (β = 0.401, P = 0.018) and hope transcendent (β = 0.418, P = 0.012) were significant negative predictors of perceived stigma, explaining 59% of the variance. CONCLUSION: The findings suggest that fostering transcendent hope and spiritual connectedness may mitigate the perceived stigma among caregivers of children with ASD, highlighting the potential of spirituality-based interventions in rehabilitation programs.

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26. Valeeva EV, Nikitin DO, Nikiforova LS, Semina, II, Ahmetov, II. Effects of Pharmacological Treatment on Telomere Length and the Expression of Telomerase/Shelterin-Related Genes in Rat Models of Autism. J Mol Neurosci;2025 (Apr 24);75(2):55.

Telomeres are increasingly recognized for their potential role in the etiology of autism spectrum disorder (ASD) due to their involvement in cellular aging and telomerase-shelterin function. Although shorter telomeres have been observed in individuals with ASD, studies linking telomere dynamics in blood cells and brain regions remain limited. Using the valproic acid (VPA, 500 mg/kg) rodent model, this study aimed to assess the impact of three drugs commonly used in ASD treatment (amitriptyline, risperidone, and nooclerin) on telomere length and the expression of telomerase/shelterin-related genes (Dkc1, Gar1, Pot1a, Pot1b, Tep1, Terc, Terf2ip, Tert, Tinf2, Tnks, Tpp1, Trf1, and Trf2) in blood cells, the prefrontal cortex, and hippocampus of VPA-exposed Wistar rats. Telomere length and gene expression were measured using quantitative PCR. Risperidone treatment in VPA males resulted in telomere elongation and increased expression of Tnks in blood cell and Trf1, Trf2 genes in prefrontal cortex. Nooclerin treatment also showed beneficial effects on telomere length of blood cell in males, alongside increased Trf1 expression. Long telomeres in male blood cells were associated with reduced anxiety, while a positive correlation was found between Tpp1 expression and stereotypical behavior in both male and female VPA rats. These findings suggest that nooclerin and risperidone influence telomere length and gene expression related to the telomere-telomerase complex in a sex-dependent manner, offering insights into the neurobiological mechanisms underlying ASD.

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27. Wang X, Wang C, Lin L, Bao W, Liu B, Lin B, Zhang L, Xu G. Associations of Down Syndrome with Autism Spectrum Disorder and Attention Deficit/ Hyperactivity Disorder Among Children and Adolescents. J Autism Dev Disord;2025 (Apr 24)

Children with Down syndrome (DS) are more likely to be diagnosed with co-existing conditions, such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). However, the correlation has not been fully delineated to date. Our study aimed to examine the associations of DS with ASD and ADHD in children and adolescents using a national population-based database. In this cross-sectional study, we included a total of 214,300 children aged 3-17 years from the National Health Interview Survey. Physician-diagnosed DS, ASD and ADHD were reported during an in-person household interview. Logistic regression with survey sampling weights was used to estimate the odds ratios (ORs) of ASD and ADHD, along with 95% confidence intervals (CIs). Among the 214,300 children, 329 were identified as having DS. Among those, 21 children were diagnosed with ASD, 48 with ADHD, and 6 exhibited co-existing ASD and ADHD. After adjusting for demographic factors, compared to those without DS, the ORs of ASD, ADHD and the co-occurrence of ASD and ADHD in children with DS were 5.40 (95% CI: 3.04-9.59), 1.72 (95% CI: 1.17-2.53), and 3.45(95% CI:1.29-9.20), respectively. Stratified analysis revealed that significant associations of DS with ASD and ADHD were detected for both male and female, but an interaction effect was only observed between sex and ASD (P < 0.001). Our study confirmed that children with DS are more likely to have comorbidities of ASD and ADHD than the general population, and these comorbidities may vary by sex.

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28. Widiastuti AA, Atmoko A, Eva N, Listyaningrum EM, Wijayanti TD. Bridging gaps in autism spectrum disorder care. Lancet Psychiatry;2025 (Apr 24)

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