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

Lien vers le texte intégral (Open Access ou abonnement)

2. Agarwalla S, Yuvarani MS, Bandyopadhyay S. Alterations in the ultrasonic vocalization sequences in pups of an autism spectrum disorder mouse model: A longitudinal study over age and sex. Prog Neuropsychopharmacol Biol Psychiatry;2025 (Apr 22):111372.

Social communication deficit is a hallmark of autism spectrum disorders (ASDs). Mouse ultrasonic-vocalizations (USVs), with communicative significance, are extensively used to probe vocalization-based social communication impairment. Despite the predictable nature of mouse USVs, very few studies have taken advantage of the same. The current work explores USV pup-isolation-call (PIC) features and alterations in structural content of predictive PIC sequences of the well-established in-utero valproic-acid (VPA) exposure-based ASDs model. Our study shows that along with call features, even higher-order USV structures undergo alterations in the ASDs model at all developmental ages and sexes. Confirming prior observations, we found reduced call rates and durations, as well as heightened peak frequencies in ASD model pups. Our data also highlights trends in call features, syllable composition, and transitions across sexes and age. The ASD female mice exhibited higher within group heterogeneity in syllable composition and transition over age compared to ASD males or typically developing males and females. Analysis of sequences of USVs emitted by pups using mutual information between syllables at different positions revealed that dependencies between syllables were higher in typically developing mice of both sexes compared to ASD model pups. In brief, we found that PICs call features were altered in VPA mouse models both for male and female pups and their vocalizations lack the complex syllable sequence order emitted by typically developing ones. Our studies will help establish and further investigate ASD mouse models to get a clearer picture of abnormalities related to social communication deficits over sexes and age.

Lien vers le texte intégral (Open Access ou abonnement)

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.

Lien vers le texte intégral (Open Access ou abonnement)

4. 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.

Lien vers le texte intégral (Open Access ou abonnement)

5. 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.

Lien vers le texte intégral (Open Access ou abonnement)

6. 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.

Lien vers le texte intégral (Open Access ou abonnement)

7. 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.

Lien vers le texte intégral (Open Access ou abonnement)

8. Edwards C, Love AM, Cai RY, Heyworth M, Johnston A, Aldridge F, Gibbs V. « I’m not feeling alone in my experiences »: How newly diagnosed autistic adults engage with a neurodiversity-affirming « Welcome Pack ». Autism;2025 (Apr 25):13623613251335070.

Receiving an autism diagnosis in adulthood can be profoundly transformative, yet many newly diagnosed autistic adults experience a lack of accessible, affirming post-diagnostic support. This study explores how a self-guided, neurodiversity-affirming resource-the « Welcome Pack »-supports newly diagnosed autistic adults in navigating their evolving identity. Using a qualitative approach, we recruited 11 autistic adults without intellectual disability in Australia who had received a diagnosis within the past 6 months. Participants engaged with the « Welcome Pack » over a 2-month period before taking part in semi-structured interviews. Reflexive thematic analysis generated four key themes: (1) a sense of belonging through community and representation, as participants found validation in shared narratives; (2) the « Welcome Pack » as one of many tools supporting their self-understanding; (3) emotional reflections, including both relief and grief over years of masking; and (4) challenges in self-advocacy and educating others. While participants described the « Welcome Pack » as an important and validating resource, they also highlighted the need for additional structured peer support and practical guidance. These findings underscore the value of integrating self-guided resources within broader post-diagnostic ecosystems, ensuring that newly diagnosed autistic adults receive timely, accessible, and neurodiversity-affirming support as they navigate their identity.Lay Abstract. Many autistic people receive a diagnosis in adulthood, often after years of feeling different but not knowing why. While a diagnosis can bring relief, it can also be overwhelming, with few accessible and affirming post-diagnostic supports available. This study explores how a free, self-guided resource—the “Welcome Pack”—helps newly diagnosed autistic adults navigate this transition. The “Welcome Pack,” developed by autistic people, includes personal stories, practical advice, and reflection activities to support self-understanding and identity development. We worked with 11 autistic adults in Australia who had been diagnosed within the past 6 months. After using the “Welcome Pack” for 2 months, they shared their experiences through interviews. Our analysis identified four key themes. First, participants felt validated and less alone when reading personal stories from other autistic people. Second, they found the “Welcome Pack” useful but emphasized the need for additional resources. Third, they reflected on the emotional impact of their diagnosis, describing both relief and grief over years of masking (hiding or suppressing their autistic traits to fit in or avoid judgment). Finally, they faced challenges in self-advocacy and explaining autism to others. Overall, participants valued the “Welcome Pack” as a helpful starting point, but they also highlighted the need for more structured peer support and workplace advocacy tools. These findings suggest that while self-guided resources can provide meaningful support, they should be integrated with broader community and professional services to better meet the needs of newly diagnosed autistic adults. eng

Lien vers le texte intégral (Open Access ou abonnement)

9. Fabio RA, Semino M, Perina M, Martini M, Riccio E, Pili G, Pani D, Chessa M. Virtual Reality as a Tool for Upper Limb Rehabilitation in Rett Syndrome: Reducing Stereotypies and Improving Motor Skills. Pediatr Rep;2025 (Apr 18);17(2)

BACKGROUND/OBJECTIVES: Rett Syndrome (RTT) is a rare neurodevelopmental disorder that causes the loss of motor, communicative, and cognitive skills. While no cure exists, rehabilitation plays a crucial role in improving quality of life. Virtual Reality (VR) has shown promise in enhancing motor function and reducing stereotypic behaviors in RTT. This study aims to assess the impact of VR training on upper limb motor skills in RTT patients, focusing on reaching and hand-opening tasks, as well as examining its role in motivation and engagement during rehabilitation. METHODS: Twenty RTT patients (aged 5-33) were randomly assigned to an experimental group (VR training) and a control group (standard rehabilitation). Pre- and post-tests evaluated motor skills and motivation in both VR and real-world contexts. The VR training involved 40 sessions over 8 weeks, focusing on fine motor tasks. Non-parametric statistical methods were used to analyze the data. RESULTS: Results indicated significant improvements in the experimental group for motor parameters, including reduced stereotypy intensity and frequency, faster response times, and increased correct performance. These improvements were consistent across VR and ecological conditions. Moreover, attention time increased, while the number of aids required decreased, highlighting enhanced engagement and independence. However, motivation levels remained stable throughout the sessions. CONCLUSIONS: This study demonstrates the potential of VR as a tool for RTT rehabilitation, addressing both motor and engagement challenges. Future research should explore the customization of VR environments to maximize the generalization of skills and sustain motivation over extended training periods.

Lien vers le texte intégral (Open Access ou abonnement)

10. Fulceri F, Caruso A, Micai M, Gila L, Tancredi R, Fatta LM, Galati G, d’Amico R, Schünemann HJ, Balduzzi S, Cinquini M, Scattoni ML. Autism diagnosis in children and adolescents: A systematic review and meta-analysis of test accuracy. Neurosci Biobehav Rev;2025 (Apr 22);173:106164.

Accurate diagnosis of Autism Spectrum Disorder (ASD) is essential for appropriate care. This systematic review evaluated the accuracy of standardized structured tools in diagnosing ASD in children and adolescents. Searches were conducted on PubMed/MEDLINE, Embase, PsycINFO, Cochrane Library, and references. Certainty of evidence was evaluated according to the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. Thirty-two studies were included. Pooled data indicated different degrees of sensitivity (Se) and specificity (Sp) for Autism Diagnostic Interview-Revised (Se:.60 and Sp:.84), Autism Diagnostic Observation Schedule (Se:.91 and Sp:.74), Autism Diagnostic Observation Schedule -Second Edition (Se:.90 and Sp:.69), Autism Spectrum Rating Scales (Se:.66 and Sp:.86), Childhood Autism Rating Scale (Se:.85 and Sp:.94), Checklist for Autism Spectrum Disorder (Se:.91 and Sp:.98), Developmental, Dimensional and Diagnostic Interview-11 (Se:.96 and Sp:.50), and Gilliam Autism Rating Scale (Se:.50 and Sp:.78). Overall, certainty of the evidence was low and very low except for ADOS-2 (moderate). The results indicate a discrepancy between clinical judgment and the assessment derived from a standardized test when applying their thresholds, suggesting that the tests may not always fully align with the clinician’s evaluation. Clinicians should apply diagnostic tools while considering their limitations in terms of their sensitivity, specificity, and certainty of evidence. Diagnostic tools should be regarded as adjunctive aids rather than comprehensive substitutes for diagnosis.

Lien vers le texte intégral (Open Access ou abonnement)

11. Han A, Lee J, Kim J, Choi H, Ju HJ. Longitudinal analysis of disability acceptance and disability-related stress in people with intellectual and developmental disabilities. J Intellect Dev Disabil;2025 (Apr 25):1-8.

BACKGROUND: People with intellectual and developmental disabilities experience daily challenges leading to high stress. Disability acceptance is crucial for improving their quality of life and reducing disability-related stress. We investigated longitudinal relationships between disability acceptance and disability-related stress among Korean adults with intellectual disabilities using data from the Panel Survey of Employment for the Disabled (PSED, 2016-2022). METHOD: Data from 3,077 participants who self-reported intellectual disabilities were analysed using generalised estimated equation (GEE) analysis. RESULTS: Higher disability acceptance significantly predicted reduced disability-related stress levels. CONCLUSION: These findings highlight the importance of interventions promoting disability acceptance. Developing evidence-based guidelines and educational programmes focused on acceptance can enhance psychological and emotional wellbeing among people with intellectual and developmental disabilities.

Lien vers le texte intégral (Open Access ou abonnement)

12. 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.

Lien vers le texte intégral (Open Access ou abonnement)

13. 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.

Lien vers le texte intégral (Open Access ou abonnement)

14. Liu Y, Zhou W, Liu M, Wang Y, Chen S, Xiong X. Independent and combined effects of fine particulate matter and greenness on autism spectrum disorder symptoms: investigating sensitive periods of exposure in the early two years of life. Front Pediatr;2025;13:1561476.

BACKGROUND: The impact of exposure to fine particulate matter (aerodynamic diameter ≤2.5 μm, PM(2.5)) and greenness during early two year of life on Autism Spectrum Disorder (ASD) symptoms, especially under the combined influence of the two factors, and the sensitive periods of exposure during the early life, remain underexplored. OBJECTIVE: This cross-sectional study recruited 108 children with ASD and aimed to quantify the independent and combined effects of PM(2.5) and greenness exposure on ASD symptoms during the first two years of life. METHODS: We collected PM(2.5) levels and Normalized Difference Vegetation Index (NDVI) values to reflect PM(2.5) exposure and greenness levels, meanwhile, assessing ASD symptoms with the Autism Behavior Checklist (ABC) and its sub-scales (sensory, relating, stereotypic behavior, language, and social independence) scores. We identified six sensitive exposure periods: 6 months, 7-12 months, 13-18 months, 19-24 months after birth, and the first and second years after birth. We investigated the independent effects of PM(2.5) and greenness on ASD symptoms using multiple linear or logistic regression for continuous or categorical symptom scores, and explored their additive interaction and mediation effects. RESULTS: Multiple linear models showed reduced total ABC, relating, and social independence scores with greenness exposure at 19-24 months after birth, while 7-12 months and first year exposures benefited social independence. Logistic models showed that PM(2.5) exposures during 13-18 months after birth increased symptoms of stereotypic behavior, while low greenness exposure during 19-24 months after birth heightened the risk of social independence impairment. We found high levels of PM(2.5) and low greenness during the 13-18 months after birth increased the risk of overall severity. Greenness exposure during 6 months after birth could mitigate the effects of PM(2.5) exposures during 13-18 months. CONCLUSION: Our findings underscore the importance of reducing air pollution and enhancing greenness to mitigate ASD symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

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

Lien vers le texte intégral (Open Access ou abonnement)

16. 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.

Lien vers le texte intégral (Open Access ou abonnement)

17. Meera SS, Swaminathan D, Pawar R, Yankowitz L, Donovan K, Khuu K, Parish-Morris J, Warren SF, Estes A, Zwaigenbaum L, Clements M, Anderson DV, Schultz RT, Hazlett HC, John TS, Pandey J, Marrus N, Botteron K, Dager SR, Swanson MR, Watson LR, Piven J. Evaluating canonical babbling ratios extracted from day-long audio recordings in infants later diagnosed with autism spectrum disorder. Infant Behav Dev;2025 (Apr 25);79:102059.

Canonical babbling (CB) is a critical developmental milestone that typically occurs in the second half of the first year of life. Studies focusing on CB in infants at elevated familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis are limited and the evidence is mixed. CB comprises a series of canonical syllables (CS) which are defined as the rapid transitions between consonant-like sounds paired with vowel-like sounds (e.g., [gugugu]). One way of measuring CB is by computing canonical babbling ratio (CBR) i.e. total number of CS divided by the total number of syllables. If the child has reached the criterion of 0.15 CBR it is said that they have achieved the CB stage. For several years now, CB has been measured using short lab based or home-based video recordings which may not represent a child’s natural vocalization pattern since child vocalizations fluctuate throughout the day. Day long audio recordings, that capture a child’s vocalizations throughout the day, has the potential to overcome this limitation. Therefore, the current study aimed to answer whether CBRs computed from day-long audio recordings using the language environment analysis (LENA®) were different among infants at elevated familial likelihood for ASD who receive an ASD diagnosis (EL-ASD; n = 11), who did not receive an ASD diagnosis (EL-Neg; n = 32) and infants at low likelihood for ASD (LL-Neg; n = 25) at 9 and 15 months. The study also aimed to evaluate if there are group differences in reaching the canonical babbling stage at 9 and 15 months and are CBRs at 9 and 15 months associated with later language abilities at 24 months. Findings indicated no group differences in mean CBRs at 9 and 15 months and no association with later language abilities. However, we found that children in the EL-ASD group were less likely to reach the 0.15 CBR threshold for being in the canonical babbling stage by 9 months of age. Thus, suggesting that a diagnosis of ASD is associated with delays in CB for some children. Future work in this area must include a larger sample and more standardized annotation protocols to harmonize results across studies and ensure replication.

Lien vers le texte intégral (Open Access ou abonnement)

18. Mohanan R, Veena KD, Parsekar SS, Bellon-Harn ML, Aithal VU. Effectiveness of Video-Based Instruction With Additional Components to Improve Conversational Skills in Autistic Children: A Systematic Review. Am J Speech Lang Pathol;2025 (Apr 25):1-18.

PURPOSE: This systematic review assessed the impact of video-based instruction with additional intervention components on autistic children’s conversational skills. METHOD: Single-subject multiple-baseline design studies from 2000 to 2022 were included. Studies were identified through searches of six databases, other sources, and forward and backward citation tracking. Two authors, independently, conducted screening, quality assessment, and data extraction using the What Works Clearinghouse standards. Results were analyzed using percentage of nonoverlapping data (PND), percentage of data exceeding the median (PEM), and percentage of all nonoverlapping data (PAND) and compared with baseline and intervention phase means. RESULTS: Seventeen studies were included, all conducted in a Western context, involving 47 autistic children. Interventions varied in type and additional components, duration, frequency, and number of sessions. PEM measures (0.7-1) and phase means were more sensitive in determining intervention effectiveness, while PND and PAND (0.3-0.5) suggested underestimation. CONCLUSION: Despite positive outcomes, research gaps remain in examining treatment effects across diverse cultural contexts and determining optimal intervention intensity. REGISTRATION: The review has been registered with PROSPERO (CRD42020212580). SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28789424.

Lien vers le texte intégral (Open Access ou abonnement)

19. Ogundele MO, Morton MJS. Subthreshold Autism and ADHD: A Brief Narrative Review for Frontline Clinicians. Pediatr Rep;2025 (Apr 3);17(2)

Background: Epidemiological studies have shown that neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are more prevalent in the general childhood population, compared to cases that are formally diagnosed in clinical cohorts. This suggests that many children and youths have NDD which are never diagnosed clinically, causing impairments in some domains of their daily life. There is increasing recognition of the concept of a « subthreshold » condition, sometimes used to describe the presence of potentially impairing variations in the neurodevelopmental profile that do not meet criteria for a diagnosis. The aim of this narrative review is to appraise the published literature about common themes regarding subthreshold conditions in relation to autism and ADHD, identifying any practical lessons that may be applicable to frontline neurodevelopmental clinicians. Methods: We searched electronic databases including PMC and PubMed using various combinations of keywords, including « Subthreshold », « subclinical », « neurodevelopmental », « childhood », « ADHD » and « ASD ». Results: The identified themes include definitions, prevalence, assessment tools, lifetime impairments, NDD classification models, management, raising public awareness, and future research directions. Conclusions: The authors propose that a « subthreshold condition » should be recorded when NDDs do not meet current diagnostic criteria if there is evidence of significant, persisting impairment in at least one setting.

Lien vers le texte intégral (Open Access ou abonnement)

20. 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.

Lien vers le texte intégral (Open Access ou abonnement)

21. Suárez-Jaramillo A, Cifuentes SG, Baldeón M, Cárdenas P. Intestinal Metabolome for Diagnosing and Prognosing Autism Spectrum Disorder in Children: A Systematic Review. Metabolites;2025 (Mar 21);15(4)

Background/Objectives: Currently, the diagnosis of autism spectrum disorder (ASD) relies on behavioral observations, frequently causing delays in early identification. Prognostic markers are essential for customizing therapy and monitoring progress. However, there are currently no recognized biomarkers for ASD. The current systematic review aims to analyze studies on the intestinal metabolome in children (both autistic and non-autistic) to identify potential metabolites for diagnostic and prognostic purposes. Methods: We searched Medline, Scopus, Embase, and Web of Science for relevant publications. Results: We identified 11 studies examining the gut metabolome that distinguished between autistic and non-autistic children. These studies also revealed connections between gut metabolites, developmental scores, and symptoms. The substances identified were associated with metabolic pathways such as amino acids, vitamins, lipids, oxidative stress, glycans, xenobiotics, and nucleotides. Conclusions: These findings suggest metabolic changes that may be linked to the causes or development of autism. Although these observations came from a few reports, only high-quality studies were included in this review. Further research is essential to confirm the identified substances as biomarkers.

Lien vers le texte intégral (Open Access ou abonnement)

22. Tivey P, Blatchford L, Kaspar P, Powell A, Surtees ADR. Brief Report: Mental Health and Wellbeing Across the Autism Assessment Experience. J Autism Dev Disord;2025 (Apr 25)

PURPOSE: With growing frequency, young people are referred for autism assessment following the onset of mental health difficulties, such as anxiety and depression. Understanding the nature of these difficulties and how they change through the assessment process may be crucial in providing effective support; this study provided the first longitudinal assessment of that. METHOD: Twenty-seven young people and their parents/carers completed questionnaire measures of mental health, wellbeing and quality of life while waiting for an autism assessment, at the point of assessment and three months after receiving their diagnostic outcome. RESULTS: A range of clinically-significant mental health presentations were reported. Young people commonly reported more severe symptoms than their parents, while parents reported a more significant impact. Mental health symptoms were correlated with quality of life. There was not evidence that the potentially stressful experience of waiting for and completing an assessment negatively impacted young people’s mental health or wellbeing. CONCLUSION: Young people waiting for autism assessment experience varied, enduring and impactful difficulties with mental health: comprehensive assessment is required to meet their needs. At a group-level, there is no good reason to delay autism assessment for fear of worsening mental health symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

23. Unwin KL, Philpott-Robinson K, Barbaro J, Dwyer P, Sadka N, Date P, Lane AE. ‘We’re quite good at thinking outside the box: Early autistic sensory experiences expressed by autistic adults and caregivers of autistic children. Autism;2025 (Apr 25):13623613251335069.

Sensory differences are well documented in autistic individuals. However, early sensory experiences have not been fully explored, particularly from the perspective of autistic people. We sought to understand early sensory experiences in autism from the perspective of autistic adults (some of whom also had autistic children) and caregivers of autistic children (some of whom also had a personal autism diagnosis). Using a qualitative descriptive design, aligned with a constructivist paradigm, focus groups were conducted with 3 autistic adults and 12 caregivers of autistic children. Data were analysed with reflexive thematic analysis. Five themes were generated accounting for early sensory experiences in autism: (1) Acknowledging the uniqueness of sensory preferences, (2) Negative impacts of different sensory experiences, (3) Feeling different and the pursuit of belonging, (4) Controlling sensory experiences to support daily function, and finally (5) Overcoming the challenges of the sensory world. The findings highlight the specific sensory needs of autistic children in early childhood and the adaptability of caregivers. This information can help young autistic people and caregivers advocate the importance of recognising the uniqueness of each autistic child’s sensory preferences when seeking support.Lay AbstractSensory behaviours in early childhood can impact how autistic children experience and engage in the world. There is a lot of research about sensory differences in autistic children; however, there is very little known about experiences in early childhood. We asked 3 autistic adults and 12 caregivers of autistic children about their/their child’s experiences of sensory behaviours in early childhood. In our sample, autistic adults and caregivers of autistic children shared similar experiences about the challenges they/their children face related to sensory experiences in early childhood and how they overcame these. The findings can influence how researchers and service providers view sensory preferences in early childhood by understanding that everyone’s preferences are unique, and the importance of advocating for what works for each autistic person.

Lien vers le texte intégral (Open Access ou abonnement)

24. Wang J, Li Y, Zhang D, Sun W, Li J. Deficiency of autism susceptibility gene Trio in cerebellar Purkinje cells leads to delayed motor impairments. Front Psychiatry;2024;15:1396716.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social interaction deficits, restricted interests and repetitive behaviors. The co-occurrence of motor impairments exacerbates the severity and societal impact of ASD, but the underlying mechanism remains to be elucidated. Research on the comorbidities of ASD including motor impairments could benefit in the life quality improvement in patients with ASD. Here we aimed at investigating the motor behaviors in mice with Trio deletion in Purkinje cells (PCs), and further exploring the cellular and molecular mechanisms. The protein level of Calbindin as PCs’ marker was determined. Behaviors including spontaneous locomotion activity, rotarod, beam balance and gait were tested in mice with the ages of 12-week and 20-week. Magnetic resonance imaging (MRI) scanning with T2 and DTI sequencing was performed in 12-week old mice. Although Trio(fl/fl; Pcp2-Cre) mice showed significant impairments of spontaneous locomotion activity in both 12-week and 20-week ages, only the 20-week but not 12-week Trio(fl/fl; Pcp2-Cre) mice showed extra mild abnormal motor, fine motor coordination, and gait. The decreased expression of Calbindin existed in both 12-week and 20-week old mice compared with control. Differentially expressed genes analysis from RNA-Seq and Gene Co-expression Network Analysis (GCNA) showed that Syne1 and its co-expressed genes were upregulated in Trio(fl/fl; Pcp2-Cre) mice compared to controls. In addition, abnormal ADC values suggested the long-term chronic damage in the cerebellum. Together, our findings indicate that the motor dysfunction in ASD are affected by Trio deletion in PCs with delayed in onset, accompanied with alterations in MRI, histological, and epigenetic level.

Lien vers le texte intégral (Open Access ou abonnement)

25. Yu K, Xu S, Fu S, Hua K, Yin Y, Lei Q, Liu J, Wu Y, Jiang G. Early identification of autism spectrum disorder in preschoolers by static and dynamic amplitude of low-frequency fluctuations features. Front Hum Neurosci;2025;19:1513200.

OBJECTIVES: Early identification and timely intervention is critical for young children with autism spectrum disorder (ASD). The current study aims to explore potential disparities in static and dynamic intrinsic brain function in preschoolers with ASD, and uncover underlying neural underpinnings that can be used for facilitating the identification of ASD. MATERIALS AND METHODS: Static and dynamic amplitude of low-frequency fluctuations (ALFF) of 73 ASD preschoolers and 43 age-matched typically developing individuals (TDs) were extracted and compared to identify differences in intrinsic brain local connectivity associated with ASD. The dynamic ALFF (dALFF) utilized a sliding window technique that integrates static ALFF (sALFF) to gauge the variance of local brain activity over time. A receiver operating characteristic (ROC) analysis was conducted to evaluate the potential diagnostic capability of the sALFF and dALFF metrics in identifying ASD. RESULTS: Compared with TDs, ASD preschoolers exhibited lower levels of sALFF in the left middle temporal gyrus, medial orbitofrontal cortex, precuneus and reduced dALFF values in the left inferior orbitofrontal cortex, middle temporal gyrus. ROC analysis indicated that sALFF and dALFF could distinguish preschoolers with ASD from TDs with the areas under the curve (AUC) of 0.848 and 0.744 (p < 0.001), and their combination showed an increased accuracy with the AUC of 0.866 (p < 0.001). Nevertheless, there were no linear correlation between the ALFF values in children with ASD and clinical scales. CONCLUSION: The findings suggest an association of regional left brain dysfunction with ASD in preschoolers. The values of sALFF and dALFF, particularly in the middle temporal gyrus, could act as possible indicators for the early detection of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

26. Zhang Y, Li F, Wu H, Du W, Shu J, Wang A, Xu C, Li C, Wang Y, Hu S. Genetic neurocognitive profile of autism unveiled with gene transcription. Neurobiol Dis;2025 (Apr 25):106925.

How neurocognitive processes elaborate phenotypic heterogeneity within autism spectrum disorder (ASD) remains unknown. Applying the principal component analysis to the Neurosynth database, we established neurocognitive profiles to characterize the phenotypic heterogeneity of ASD, revealing a cortical hierarchical axis that separates the temporal cortex from other networks. By integrating neurocognitive profiles with transcriptomic data, we found that gene sets shaping the patterns of neurocognitive profiles are enriched in ASD-related biological processes and ASD pathogenic risk. Using a data-driven approach, we identified a topographic network for ASD, comprising the temporal, frontal, somatosensory, and visual cortices, with its transcriptomic signatures differentiating between regions over neurodevelopment. Additionally, functional reorganization in ASD within the topographic network has occurred with the temporal cortex as the central node. Collectively, our results reveal spatially covarying transcriptomic and neurocognitive profiles, emphasizing the influence of functional reorganization and its underlying genetic mechanism on phenotypic heterogeneity in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

27. Zheng M, Bao N, Wang Z, Song C, Jin Y. Alternative splicing in autism spectrum disorder: Recent insights from mechanisms to therapy. Asian J Psychiatr;2025 (Apr 14);108:104501.

Alternative splicing (AS) is a vital and highly dynamic RNA regulatory mechanism that allows a single gene to generate multiple mRNA and protein isoforms. Dysregulation of AS has been identified as a key contributor to the pathogenesis of autism spectrum disorders (ASD). A comprehensive understanding of aberrant splicing mechanisms and their functional consequences in ASD can help uncover the molecular basis of the disorder and facilitate the development of therapeutic strategies. This review focuses on the major aberrant splicing events and key splicing regulators associated with ASD, highlighting their roles in linking defective splicing to ASD pathogenesis. In addition, a discussion of how emerging technologies, such as long-read sequencing, single-cell sequencing, spatial transcriptomics and CRISPR-Cas systems are offering novel insights into the role and mechanisms of AS in ASD is presented. Finally, the RNA splicing-based therapeutic strategies are evaluated, emphasizing their potential to address unmet clinical needs in ASD treatment.

Lien vers le texte intégral (Open Access ou abonnement)