1. Aurélia Teixeira Carvalhais A, Lima Morais Carvalho L, Ferreira Castro I, Luísa de Paula Santos R, Aparecido de Araújo Lemos C, Luís Almeida de Carvalho R, Soares Miranda J. Sleep Bruxism in Children and Adolescents with Autism: Association with Support Levels. Indian J Pediatr;2025 (Aug 29)

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2. Bickel J, Hatoun J, Fry M, Prock L, Vernacchio L, Patane LB, Coop A, Weitzman C. Bridging the Gap in Autism Diagnosis: An Evaluation of a Novel Primary Care Training Model. J Dev Behav Pediatr;2025 (Sep 3)

OBJECTIVE: The current study assesses the impact of an educational program designed to train primary care clinicians (PCCs) to diagnose children between age 18 and 36 months at high risk for autism spectrum disorder (ASD). METHODS: Two cohorts of PCCs completed an 8-session training over a 9-month period. Clinicians were surveyed at baseline and 3 months after training completion. Information was collected regarding PCCs knowledge of ASD, their diagnostic beliefs, and perceived comfort and competence regarding all aspects of an ASD diagnostic evaluation. RESULTS: A total of 35 participants completed training, and 29 (82%) completed presurvey and postsurvey. At baseline, 89% of PCCs reported no additional training in developmental behavioral pediatrics or diagnosing children with ASD, although 31% had diagnosed a child with ASD in the past year. After training, PCCs reported significantly greater comfort diagnosing ASD in children between age 18 and 36 months with mild ASD (2.31 vs 3.02, p < 0.0001), moderate ASD (3.03 vs 3.83, p < 0.001), and severe ASD (3.45 vs 4.34, p < 0.0001). PCCs also reported a significant increase in their knowledge and perceived competence in completing an autism evaluation, including taking an autism history, completing a structured observation, scoring the Childhood Autism Rating Scale-Second Edition, writing a letter of medical necessity, and discussing findings with families. CONCLUSION: After training, PCCs reported a significant improvement in their knowledge, comfort, and competence regarding all aspects of diagnosing young children 18 to 36 months of age at high risk of ASD. PCCs can help to improve access to services for young children at risk for ASD.

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3. Bradshaw J, Richards JE, Yurkovic-Harding J, McLaughlin E. Development of Respiratory Sinus Arrhythmia in Young Infants With Autism Spectrum Disorder, Preterm Birth, and Typical Development. Autism Res;2025 (Aug 29)

Respiratory sinus arrhythmia (RSA) is a key index of parasympathetic function and environmental adaptability. Lower resting RSA has been linked to preterm (PT) birth in infancy and autism spectrum disorder (ASD) in childhood, yet RSA across the first 2 years in young infants born PT or later diagnosed with ASD remains unknown. This study examined resting RSA and mean interbeat interval (IBI) development from 1 to 24 months in infants at varying ASD likelihoods, including infant siblings of children with ASD and those born PT. A longitudinal design tracked resting RSA and mean IBI in 137 infants from 1 to 24 months. Infants were classified as elevated likelihood for ASD (EL), low likelihood for ASD (LL), or PT and later classified by developmental outcome as ASD, neurodivergent (ND), or typically developing (TD). Mixed-effects models examined developmental trajectories and group differences. Results indicated that both RSA and mean IBI increased across all groups from 1 to 24 months, with the most rapid growth observed in the first 6 months. PT infants exhibited lower RSA and mean IBI initially, but aligned with LL infants when age was corrected for prematurity. Infants later diagnosed with ASD showed no early RSA differences, but exhibited elevated RSA from 9 to 24 months, distinguishing them from TD and ND infants. Elevated resting RSA in ASD from 9 to 24 months may reflect reduced social monitoring, increased attentional regulation, or decreased stress during a resting period free of structured tasks. These findings contrast with lower RSA in older children with ASD, highlighting developmental shifts in autonomic function and the need for further research into RSA as an early biomarker for ASD.

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4. Çelik SB, Özkan E. Beyond vision: Exploring the impact of visual perception on participation in children with autism spectrum disorder. PLoS One;2025;20(8):e0330457.

Visual perception plays a crucial role in the daily participation of children with Autism Spectrum Disorder (ASD) in everyday activities. Exploring the relationship between visual perception skills and participation levels can provide valuable insights into effective intervention strategies to enhance engagement in various settings. This study aimed to evaluate visual perception and participation levels in children with ASD in terms of demographic variables and to examine the relationships between visual perception skills and participation in daily life activities. Sixty-one children with autism (mean age = 8.21 ± 1.05 years) enrolled in a special education center were assessed using the Motor-Free Visual Perception Test – 4 (MVPT-4) for visual perception and the Child and Adolescent Scale of Participation (CASP) for participation levels across home, school, neighborhood, and community settings. Statistical analyses included correlation and regression analyses to examine relationships between variables. Findings indicated that boys participated more in home and school activities, whereas girls were more engaged in community settings. Additionally, children from nuclear families had higher participation levels than those from separated families. Regression analysis indicated that visual perception was strongly associated with participation levels (β = 0.617, p < 0.001), accounting for 55.8% of the variance in CASP Total scores. A significant positive correlation was found between visual perception and participation in home (r = 0.358, p < 0.001), school (r = 0.313, p = 0.014), and community activities (r = 0.361, p = 0.004), suggesting that better visual perception is linked to higher participation levels. The results suggest that visual perception is a significant factor influencing participation levels in children with ASD. Furthermore, family type showed a significant contribution to participation variance in the regression analysis. These findings underscore the importance of incorporating visual perception-based interventions to enhance the participation of children with ASD in everyday activities, yet they should be interpreted as correlational rather than causal, highlighting the need for future longitudinal or interventional research.

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5. Cheng B, Lai X, Liu H, Wang S, Li X, Tan M, Liu J, He Y. Maternal and early postnatal antibiotic exposure may increase the risk of autism spectrum disorder with regression. Neurotoxicol Teratol;2025 (Aug 29);111:107550.

PURPOSE: To analyze if exposure to antibiotics during maternal pregnancy and early postnatal period increases the risk of autism spectrum disorder with regression (ASD-R). METHODS: A total of 483 children with ASD were categorized into ASD-R and ASD without regression (ASD-NR) groups. The caregivers of children completed questionnaires regarding use of antibiotics during maternal pregnancy and early postnatal period. RESULTS: There were significantly higher proportions of antibiotic exposure during maternal pregnancy and before age of 2 in the ASD-R group (10.3 % and 44.0 %) compared to the ASD-NR group (2.9 % and 33.1 %). Children with ASD and maternal antibiotic exposure had a higher likelihood of experiencing regression compared to those without exposure (unadjusted OR = 3.81, 95 %CI: 1.67-8.68; adjusted OR = 3.36, 95 %CI: 1.44-7.8). Also, children with ASD who were exposed to antibiotics during early postnatal period had a higher risk of regression, as opposed to those who were not exposed (unadjusted OR = 1.59, 95 % CI 1.08-2.32; adjusted OR = 1.50, 95 % CI 1.01-2.21). Both maternal and early postnatal antibiotic exposure were associated with certain dimensions and total scores of the ABC. CONCLUSIONS: The ASD-R group had higher rates of antibiotic exposure during both maternal pregnancy and the early postnatal period compared to the ASD-NR group. Maternal and early postnatal antibiotic exposure may be risk factors for regression in children with ASD. Children with ASD who were exposed to antibiotics during maternal pregnancy or the early postnatal period may have more severe core symptoms than those without such history of exposure.

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6. Efthimiou TN, Lewis S, Foster SJ, Wilks CEH, Dodd M, Jiménez-Sánchez L, Ropar D, Ackerman RA, Sasson NJ, Fletcher-Watson S, Crompton CJ. Diagnostic status influences rapport and communicative behaviours in dyadic interactions between autistic and non-autistic people. PLoS One;2025;20(8):e0330222.

A growing body of research suggests that the behaviours and experiences of autistic and non-autistic people are influenced by whether they are interacting with someone of the same or different diagnostic status. However, little is known about the relationship between these behaviours and the experiences of rapport in matched and mixed neurotype dyads. Using the Actor-Partner Interdependence Model, our pre-registered analyses examine how participants’ and their partners’ diagnostic statuses influence linguistic, behavioural, and kinematic indices, and how these relate to feelings of rapport among autistic and (n = 57; 17 self-diagnosed) non-autistic (n = 51) participants interacting within autistic (n = 20), non-autistic (n = 17), and mixed autistic-non-autistic (n = 17) dyads. We found that autistic participants reported lower rapport regardless of their partner’s diagnostic status, though awareness of their partner’s diagnostic status had a moderating effect. We observed a linguistic difference, autistic participants produced longer mean utterance lengths, these and other behavioural or kinematic indices did not mediate the relationship between diagnostic status and rapport across neurotypes. The current work highlights the need for a nuanced understanding of communication dynamics in autism.

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7. Gosling CJ, Boisseleau L, Solmi M, Sandbank M, Jurek L, Nourredine M, Porcu G, Murgia E, Radua J, Fusar-Poli P, Kovarski K, Caparos S, Cartigny A, Cortese S, Delorme R. Complementary, alternative and integrative medicine for autism: an umbrella review and online platform. Nat Hum Behav;2025 (Aug 28)

The use of complementary, alternative and integrative medicine (CAIM) is highly prevalent among autistic individuals, with up to 90% reporting having used CAIM at least once in their lifetime. However, the evidence base for the effects of CAIM for autism remains uncertain. Here, to fill this gap, we conducted an umbrella review of meta-analyses exploring the effects of CAIM in autism across the lifespan and developed a web platform to disseminate the generated results. Five databases were searched (up to 31 December 2023) for systematic reviews with meta-analyses exploring the effects of CAIM in autism. Independent pairs of investigators identified eligible papers and extracted relevant data. Included meta-analyses were reestimated using a consistent statistical approach, and their methodological quality was assessed with AMSTAR-2. The certainty of evidence generated by each meta-analysis was appraised using an algorithmic version of the GRADE framework. This process led to the identification of 53 meta-analytic reports, enabling us to conduct 248 meta-analyses exploring the effects of 19 CAIMs in autism. We found no high-quality evidence to support the efficacy of any CAIM for core or associated symptoms of autism. Although several CAIMs showed promising results, they were supported by very low-quality evidence. The safety of CAIMs has rarely been evaluated, making it a crucial area for future research. To support evidence-based consideration of CAIM interventions for autism, we developed an interactive platform that facilitates access to and interpretation of the present results ( https://ebiact-database.com ).

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8. Graham F. Daily briefing: What we know about autism and why it’s on the rise. Nature;2025 (Aug 27)

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9. Hermans RA, Bruens K, Egberts KM, Koch BCP, Dierckx B, Hillegers MHJ, Romanos M, Taurines R, Fekete S, Eisenecker K, Clement HW, Fleischhaker C, de Winter BCM. External validation of a therapeutic window for risperidone in children with autism spectrum disorder. Br J Clin Pharmacol;2025 (Aug 3)

Although risperidone is an effective pharmacological intervention for managing disruptive behaviour in children with autism spectrum disorder, it may induce metabolic side effects. This study aimed to externally validate the population pharmacokinetic (popPK) model and the therapeutic window of 3.5-7 ng/mL of risperidone and 9-OH-risperidone, developed with data of the SPACe Study. For this external validation, data from the German Therapeutic Drug Monitoring (TDM) Service and TDM-VIGIL Study was used in nonlinear mixed-effects modelling to evaluate popPK model performance and in receiver operating curve analyses to define the therapeutic window. Population predictions of the popPK model showed underprediction for risperidone concentrations, but individual predictions were fairly accurate. Receiver operating curve analyses resulted in a therapeutic window of 5.0-8.0 ng/mL. The popPK model seems suitable for use in TDM. Because the current analysis included only a few low sum trough concentrations, we suggest maintaining the therapeutic window of 3.5-7.0 ng/mL.

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10. Koenig J, McLean KJ, Haas M, Horvath M, Vigil M, Aguirre Mtanous NG, Effertz S, Bishop L. Challenging neurotypical norms: Autistic adults’ understandings of health. Autism;2025 (Aug 28):13623613251362336.

This study examined how autistic adults conceptualize health and whether their conceptualizations differed substantively from those of their emergency contacts (people who helped with health or healthcare management). We conducted semi-structured interviews with 10 dyads of autistic adults and emergency contacts. A thematic analysis with deductive and inductive codes identified four main themes: (1) health is subjective well-being; (2) healthy is the absence of pain; (3) challenging neurotypical norms; and (4) differences in health definitions were smaller than perceived. Autistic participants and emergency contacts endorsed the first two themes. Only autistic participants discussed the third theme. Despite broad agreement about what « healthy » means, emergency contacts perceived significant differences between their definition of health and that of their autistic counterpart. The data suggest these differences were primarily about health behaviors. We present a model for a Personalized Health Ecosystem, describing important factors for personal conceptualization of health among autistic adults. These findings demonstrate the need for individualized care, for healthcare providers to partner with autistic patients to best support their health, and for education programs for providers who work with this community.Lay AbstractAutistic adults experience worse health and have a higher risk of mortality on average. Many autistic adults say that physicians and other healthcare providers do not understand autism and autistic people’s needs. This study wants to understand how autistic adults specifically understand healthy habits as this could inform better care. We interviewed 10 autistic adults and their emergency contacts (family or friends who help them with healthcare decisions) about how they understand health and what they do to be healthy. We compared what the two groups said. Both autistic adults and their emergency contacts said that being healthy could look different for everyone. Beyond physical health, participants talked about mental, financial, and spiritual health. Participants described « healthy » as the absence of pain, though the fact that you can be in pain and healthy was mentioned. Autistic adults and their emergency contacts described health similarly. Autistic adults, however, shared more non-traditional health-promoting behaviors. These findings can help healthcare providers better understand how to work with autistic patients. Physicians should work with autistic patients on how to be healthy, rather than assume that autistic adults do not understand health.

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11. Le Donne I, Greco MP, Attanasio M, Covone N, Di Giminiani E, Valenti M, Mazza M. Visuospatial skills and intention attribution: A review of the Object Perspective Taking Test and Santa Barbara Sense of Direction questionnaire with Exploratory graph analysis and applications to autism. Acta Psychol (Amst);2025 (Aug 28);260:105450.

Visual-spatial skills are fundamental for navigating the environment and performing daily activities. Individuals with Autism Spectrum Disorder (ASD) often exhibit atypical perceptual processing, especially regarding complex visual stimuli and visuo-perceptual abilities. This study aims to revise the Object Perspective Taking Test (OPT) and the Santa Barbara Sense of Direction Scale (SBSOD) in the Italian context and to compare visuospatial skills between individuals with Autism Spectrum Disorder (ASD) and individuals from the general population (Control Group; CG). A total of 254 participants (mean age 21.53; 111 males and 143 females) were involved in the test revision process. Exploratory Graph Analysis (EGA) and Confirmatory Factor Analysis (CFA) confirmed satisfactory structural validity for both tests. The unidimensional structure of the OPT led to the proposal of a revised scale (OPT-r) composed of 9 items. The SBSOD-r revealed a bidimensional solution, distinguishing between spatial visualization and navigation skills. Significant negative correlations were found between OPT-r, spatial visualization, and the total SBSOD-r score. The tests revised were administered to 13 individuals with ASD (all males; mean age 23.46 ± 8.19, mean IQ 105.00 ± 11.04) and 20 CG individuals (all males; mean age 23.60 ± 5.07, mean IQ 116.2 ± 9.1), who were comparable for relevant demographic variables such as, age and education level. Explorative results showed significant differences in OPT-r scores, indicating lower performance in the ASD group. These findings provide preliminary support for the structural validity of the revised OPT-r and SBSOD-r, and may offer initial insights into the visual-spatial profiles of individuals with ASD, with potential implications for both research and clinical practice.

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12. Li X, Wang H. A scientometric analysis of music therapy in pediatrics settings globally: Research trends, collaboration networks, and emerging topics (2000-2024). Afr J Reprod Health;2025 (Aug 28);29(8s):105-119.

Music therapy (MT) has emerged as an effective non-pharmacological intervention for enhancing emotional regulation, social communication, and neurocognitive function in children. This study provides the first comprehensive scientometric analysis of global MT research trends in pediatric settings. Analyzing 1,383 publications from Web of Science, we employed co-citation networks, keyword clustering, and burst detection to: 1) map international collaboration networks, 2) track thematic evolution, and 3) identify emerging frontiers. Results reveal exponential growth since 2010, peaking in 2022, with the U.S., U.K., and Australia as leading contributors. Core research clusters focus on autism spectrum disorder, pediatric anxiety, and pain management, while cutting-edge domains include AI-assisted MT, computational modeling, and neuroplasticity-based interventions. The field shows a paradigm shift from generalized approaches to precision therapies, particularly in pediatric oncology, neonatal care, and neurodevelopmental rehabilitation. Key institutions like Aalborg University and University of Toronto anchor collaborative networks. This analysis not only delineates the intellectual structure of pediatric MT research but also provides empirical guidance for future studies, clinical applications, and cross-disciplinary innovation in this rapidly evolving field. The findings highlight MT’s growing scientific validation and its transition toward technology-integrated, evidence-based practices in child healthcare.

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13. Liu Z, Wu C, Sun Z, Lin Z, Sun Y, Amjad N, Majid M, Basnet R, Li Z. Gut microbiota remodeling exacerbates neuroinflammation and cognitive dysfunction via the microbiota-gut-brain axis in prenatal VPA-exposed C57BL/6 mice offspring. Front Immunol;2025;16:1633680.

INTRODUCTION: Prenatal exposure to valproic acid (VPA) is a recognized risk factor for autism spectrum disorder (ASD)-like phenotypes, yet the mechanisms linking gut microbiota dysbiosis to neurodevelopmental impairments remain poorly understood. Emerging evidence implicates the microbiota-gut-brain axis as a critical mediator of neuroinflammation and cognitive deficits, but causal pathways in VPA-induced ASD models require systematic exploration. This study investigates how prenatal VPA exposure reshapes gut microbiota composition, exacerbates neuroinflammatory responses, and drives cognitive dysfunction through the microbiota-gut-brain axis in C57BL/6 mouse offspring. METHODS: Prenatal VPA-exposed and control offspring underwent behavioral assessments (open field, three-chamber social interaction, marble-burying, and Morris water maze tests). Neuroinflammatory cytokines (IL-1β, IL-6, TNF-α, IL-10), oxidative stress markers (GSH, SOD, MDA), and microglial activation (Iba1 immunofluorescence) were quantified. Gut microbiota profiles were analyzed via 16S rRNA sequencing, with functional pathway predictions using PICRUSt2 and KEGG databases. RESULTS: VPA-exposed mice exhibited ASD-like behaviors, including social deficits, repetitive stereotypic actions, and impaired spatial memory. Neuroinflammation was marked by upregulated pro-inflammatory cytokines (IL-1β, IL-6, TNF-α) and microglial hyperactivation, alongside suppressed antioxidant systems (GSH, SOD). Gut microbiota analysis revealed dysbiosis characterized by reduced Bacteroidia and enriched Clostridia, with diminished short-chain fatty acid (SCFA)-producing taxa (e.g., Oscillibacter). Co-occurrence networks highlighted disrupted microbial interactions, while functional profiling indicated impaired carbohydrate metabolism and elevated neurotoxic pathway activity. DISCUSSION: Prenatal VPA exposure induces gut microbiota remodeling that exacerbates neuroinflammation and cognitive dysfunction via the microbiota-gut-brain axis. This study provides evidence for linkages between taxonomic and metabolic gut dysbiosis and ASD-like pathophysiology, underscoring the therapeutic potential of microbiota-targeted interventions for neurodevelopmental disorders.

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14. Mackay TM, Bourke-Taylor H, Carey S, McKenzie M. Examining the clinical utility of the Occupational Therapy Observation Tool-Adjustment Support Details (OTOT-ASD): Experiences of paediatric occupational therapists. Aust Occup Ther J;2025 (Oct);72(5):e70046.

INTRODUCTION: Standardised assessments are necessary for autistic children and are part of the process of gathering information to develop intervention plans, to monitor progress and gain funding. Due to behavioural characteristics that may be displayed by autistic children, the required structure and demands of standardised assessments can lead to inaccurate results of a child’s skills and abilities, impacting outcomes. The Occupational Therapy Observation Tool-Adjustment Support Details (OTOT-ASD) is a descriptive companion tool to be utilised alongside standardised assessment, to enhance accurate assessment of a child’s true skills and abilities. This study examines the clinical utility of the OTOT-ASD from the experiences and perspectives of paediatric occupational therapists. CONSUMER AND COMMUNITY INVOLVEMENT: Consumers and community members were not involved in the design, execution or write up of the study results. METHOD: This study used a mixed methods design. Six paediatric occupational therapists were recruited and trained to use the OTOT-ASD in clinical practice for a four-week trial block. Clinicians’ perspectives were collected via semistructured interviews and a brief questionnaire. Findings were analysed using descriptive statistics and thematic analysis. RESULTS: Data analysis revealed four major themes: clinical experiences of using the OTOT-ASD; perceived clinical benefits; recommendations and future use; and what constitutes clinical utility. The majority of the participants indicated a favourable response to the OTOT-ASD clinical utility. Some suggestions for improvement included modifying the title, broadening the population, expanding the function of the tool and providing more educational resources for training. CONCLUSION: The findings from this study suggest that the OTOT-ASD is a clinically useful instrument that can support accurate occupational therapy assessment of autistic children. Further, by way of examining the clinical utility of the OTOT-ASD, this study identified key indicators of clinical utility from an occupational therapy perspective. PLAIN LANGUAGE SUMMARY: Occupational therapists test the skills of children who have autism to determine their strengths, challenges and to help choose the best strategies to use. Adjustments to testing are often needed for autistic students, as they can make errors when they feel stressed by being tested. Behaviour during testing can also cause poor results that do not show what the student is truly capable of doing. The researchers trained six therapists to use a form called the OTOT-ASD when completing tests. The form is used rate the behaviours and factors seen while testing. The therapists were asked to rate how useful the tool was. They also commented on ways to improve it and what things they consider important when deciding which tools to use.

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15. Melgarejo S, Reyes Valenzuela G, Juanes M, Touzon MS, Suyo C, Alonso C, Gauto A, Princich JP, Loos M, Obregón R, Pérsico A, Caraballo R. Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission. Int J Dev Neurosci;2025 (Aug);85(5):e70041.

The HECW2 gene, essential for neurodevelopment, plays a critical role in maintaining cellular homeostasis and regulating key pathways in the nervous system. Deleterious variants in the HECW2 gene have been associated with developmental delay, intellectual disability, hypotonia and epilepsy, as well as dysmorphic features. We present the case of an infant with a novel variant in HECW2 with an unusual clinical presentation and a progressive disease course, showing three successive electroclinical patterns, consisting of burst suppression characteristic of early infantile developmental and epileptic encephalopathy, subcontinuous myoclonic seizures and infantile epileptic spasms syndrome without hypsarrhythmia, occurring over a short period of time. This case expands the clinical spectrum associated with this gene and highlights the intrafamilial phenotypic variability. It also underscores the importance of personalized therapeutic strategies, as demonstrated by the use of perampanel in this patient. These findings emphasize the need to include HECW2 as a possible aetiology in the diagnostic evaluation of developmental and epileptic encephalopathies.

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16. Mol W, Post S, Lee M, Thapa R, Erickson M, Goel A. Learning impairments in Fmr1(-/- )mice on an audio-visual temporal pattern discrimination task. J Neurodev Disord;2025 (Aug 29);17(1):52.

Estimating time and making predictions is integral to our experience of the world. Given the importance of timing to most behaviors, disruptions in temporal processing and timed performance are reported in a number of neuropsychiatric disorders such as Schizophrenia, Autism Spectrum Disorder (ASD), Fragile X Syndrome (FXS), and Attention-deficit Hyperactivity Disorder (ADHD). Symptoms that implicitly include disruption in timing are atypical turn-taking during social interactions, unusual verbal intonations, poor reading, speech and language skills, inattention, delays in learning, and difficulties making predictions. Currently, there are no viable treatments for these symptoms, the reason being the underlying neural dysfunction that contributes to timing deficits in neuropsychiatric disorders is unknown. To address this unknown, we have designed a novel Temporal Pattern Sensory Discrimination Task (TPSD) for awake-behaving mice. Stimuli consist of paired audiovisual stimuli that differ in duration. Compared to Wild-Type (WT) mice, Fmr1(-/-) mice, a well-established mouse model of FXS, showed significant impairment in learning the TPSD task, as evidenced by reduced discriminability indices and atypical licking patterns. Often sensory information is multimodal and, indeed, studies show that learning in humans and rodents improves with multimodal stimuli than with unimodal stimuli. To test how the multimodal nature of stimuli impacted performance of Fmr1(-/-) mice, following training on the audiovisual stimuli, we tested mice on audio-only or visual-only stimuli. While WT mice showed significant disruption in performance when tested on unimodal stimuli, Fmr1(-/-) mice displayed equivalent performance on visual-only stimuli when compared to the multimodal task. Our novel task captures timing difficulties and multisensory integration issues in Fmr1(-/-) mice and provides an assay to examine the associated neural dysfunction.

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17. Rai N, Pradhan PC, Saikia H, Bhutia R, Singh OP. ASD-HybridNet: A hybrid deep learning framework for detection of autism spectrum disorder. Magn Reson Imaging;2025 (Aug 26);124:110492.

Current diagnostic methods for autism spectrum disorder (ASD) are based on subjective behavioral assessments, which present challenges to an accurate and early diagnosis. This paper proposes a hybrid deep learning framework, ASD-HybridNet, which integrates both region of interest (ROI) time series data and functional connectivity (FC) maps derived from functional magnetic resonance imaging (fMRI) data to improve ASD detection. Experiments on the ABIDE dataset demonstrate the effectiveness of the proposed method compared to existing approaches.

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18. Restrepo B, Taylor SL, Dominic Ponzini M, Angkustsiri K, Solomon M, Rogers SJ, Ashwood P, Say DS, Caceres S, Alavynejad S, Heath B, Amaral DG, Wu Nordahl C. A longitudinal evaluation of gastrointestinal symptoms in children with autism spectrum disorder. Autism;2025 (Aug 28):13623613251362349.

Gastrointestinal symptoms are frequently reported in children diagnosed with autism spectrum disorder. This study sought to determine the longitudinal trajectory of gastrointestinal symptoms without a medical etiology in children with autism compared to similar aged participants with typical development. A total of 475 children enrolled in this longitudinal study (322 autism spectrum disorder and 153 typical development groups) were evaluated at up to three time points between 2 and 12 years of age. Nine common gastrointestinal symptoms and formal medical gastrointestinal diagnosis were assessed using a physician-administered parent interview. A rigorous symptom classification was performed by physicians via clinical consensus. The frequency and persistence of gastrointestinal symptoms across childhood were compared between groups. Associations between gastrointestinal symptoms and measures of internalizing and externalizing behaviors, sleep problems, sensory problems, restricted and repetitive behaviors, and social communication were also evaluated. Children with autism presented with more gastrointestinal symptoms at each time point, and they were also more likely to experience multiple and persistent gastrointestinal symptoms. The presence and number of gastrointestinal symptoms were associated with greater impairment in internalizing behaviors, sleep, communication, sensory processing, and repetitive behaviors. Participants in the autism spectrum disorder group reported more gastrointestinal symptoms without known etiology throughout childhood in this longitudinal well-characterized sample.Lay AbstractChildren with autism have been found to experience more medical issues including gastrointestinal symptoms. In this study, participants in the autism group were more likely to experience gastrointestinal symptoms than their typically developing peers. They were also more likely to experience multiple gastrointestinal symptoms at the same time and more likely to have persistent gastrointestinal symptoms throughout their childhood. Increased gastrointestinal symptoms were associated with more challenges with sleep, communication, sensory processing, and repetitive behaviors. Clinicians and parents should become more aware of the high occurrence of gastrointestinal problems in children with autism. If identified, these symptoms are often treatable which may improve their well-being.

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19. Saravanaperumal M, Venkatraman K, Muraleedharan A. A Cross-Sectional Study on Narrative Microstructure in Tamil-Speaking Autistic and Non-Autistic Children. Autism Res;2025 (Aug 28)

Narrative skills involve retelling or generating stories, reflecting cognitive and communication development. This use of language is decontextualized and requires a fluent interplay of various components. Autistic children often demonstrate atypical language development and restricted communication tailored to specific needs. This cross-sectional study examines narrative microstructure in language-level-matched Tamil-speaking autistic children and those without autism, aged 3-5 years. Six microstructure parameters were analyzed through story-retelling and story-generation tasks to assess narrative abilities. The research included 38 Tamil-speaking children, divided based on autism diagnosis and matched for language level using standardized tests. The assessment focused on a retelling task and sequencing cards for story retelling (SR) and story generation (SG). The six microstructure variables evaluated were: total number of words (TNW), total number of utterances (TNU), mean length of utterances in words (MLU-W), mean length of utterances in morphemes (MLU-M), number of different words (NDW), and type-token ratio (TTR). The results indicated that autistic children consistently scored lower across all parameters, exhibiting difficulties with fluency and using shorter, simpler sentences. This study highlights the significance of narrative assessment in enhancing our understanding and support of language development in autistic children.

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20. Sariyanidi E, Yankowitz L, Schultz RT, Herrington JD, Tunc B, Cohn J. Beyond FACS: Data-driven Facial Expression Dictionaries, with Application to Predicting Autism. Proc Int Conf Autom Face Gesture Recognit;2025 (May);2025

The Facial Action Coding System (FACS) has been used by numerous studies to investigate the links between facial behavior and mental health. The laborious and costly process of FACS coding has motivated the development of machine learning frameworks for Action Unit (AU) detection. Despite intense efforts spanning three decades, the detection accuracy for many AUs is considered to be below the threshold needed for behavioral research. Also, many AUs are excluded altogether, making it impossible to fulfill the ultimate goal of FACS-the representation of any facial expression in its entirety. This paper considers an alternative approach. Instead of creating automated tools that mimic FACS experts, we propose to use a new coding system that mimics the key properties of FACS. Specifically, we construct a data-driven coding system called the Facial Basis, which contains units that correspond to localized and interpretable 3D facial movements, and overcomes three structural limitations of automated FACS coding. First, the proposed method is completely unsupervised, bypassing costly, laborious and variable manual annotation. Second, Facial Basis reconstructs all observable movement, rather than relying on a limited repertoire of recognizable movements (as in automated FACS). Finally, the Facial Basis units are additive, whereas AUs may fail detection when they appear in a non-additive combination. The proposed method outperforms the most frequently used AU detector in predicting autism diagnosis from in-person and remote conversations, highlighting the importance of encoding facial behavior comprehensively. To our knowledge, Facial Basis is the first alternative to FACS for deconstructing facial expressions in videos into localized movements. We provide an open source implementation of the method at github.com/sariyanidi/FacialBasis.

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21. Shangguan H, Huang J, Wei X, Huang J, Cao Z, Chen X, Yuan J, Zhang J, Ye B, Yan R, Chen R, Tao W. Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish. Commun Biol;2025 (Aug 29);8(1):1311.

Kabuki syndrome type 1 is a congenital multisystem disorder caused by KMT2D mutations. While some studies suggest that KMT2D deficiency may lead to autistic-like behaviors, the role of KMT2D in social behavior remains unconfirmed due to a lack of animal model evidence. In this study, we developed a mouse knockdown model and a zebrafish knockout model to investigate the role of KMT2D in synaptic function and behavioral patterns. We also performed an RNA sequencing analysis to delve into the molecular and cellular mechanisms of KMT2D. Results showed that Kmt2d deficiency in mouse and zebrafish both exhibited autistic-like behaviors including social behaviors defects and repetitive behavior. Additionally, knockdown of Kmt2d in the mouse hippocampus decreases excitatory and increases inhibitory synaptic transmission, disrupting the excitation-inhibition balance-a hallmark of autistic-like behaviors. RNA sequencing analysis revealed that under conditions of low kmt2d expression, differentially expressed genes were associated with glutamatergic and GABAergic synapses, supporting the dysregulation of excitation-inhibition balance in the hippocampus. Taken together, our research elucidates the critical role of KMT2D in modulating animal social behavior, potentially through its impact on synaptic excitation-inhibition balance.

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22. Shetty N, Brown WD, Massingham L, Rogg J, Quintos JB. Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm. JCEM Case Rep;2025 (Oct);3(10):luaf188.

Individuals with Noonan syndrome (NS) are predisposed to hematologic cancers, solid tumors, and low-grade gliomas. We report an 8-year-old girl originally referred at age 14 months for short stature, developmental delay, and failure to thrive who was subsequently found to have pathogenetic variants both in MECP2 and PTPN11. Family history included a maternal half-sister with NS and a mother carrying the PTPN11 mutation. Familial single-gene testing showed a heterozygous pathogenic variant in PTPN11 (c.417G > C p.Glu139Asp) suggesting NS, prompting initiation of growth hormone (GH) treatment at 26 months. Due to associated language delays, gross motor delays, microcephaly, and seizures, exome sequencing (ES) was pursued. ES identified a heterozygous de novo pathogenic variant (c.763C > T p.Arg255Ter) in MECP2 and led to the additional diagnosis of Rett syndrome (RTT). Seizure onset prompted neuroimaging, which demonstrated hydrocephalus due to aqueductal stenosis secondary to a tectal neoplasm. GH treatment was discontinued. The co-occurrence of NS and RTT is rare. ES enabled the additional diagnosis of RTT in our patient with NS, who presented with atypical features and developmental regression.

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23. Smith K, Perry V, Groves L, Moss J, Oliver C, Knight E, Patterson T, Rodgers J, Waite J, Crawford H. Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes. J Intellect Disabil Res;2025 (Aug 29)

BACKGROUND: Cornelia de Lange syndrome (CdLS) and fragile X syndrome (FXS) are associated with co-occurring autism and anxiety. In autistic people, intolerance of uncertainty (IU) mediates the relationship between autistic characteristics and anxiety, but it is not known whether this relationship is evident in these genetic syndromes. Understanding the relationship between autism, anxiety and IU is essential to informing the theoretical frameworks of anxiety in rare genetic syndromes and improving clinical interventions. METHOD: Sixty participants with CdLS or FXS participated in a questionnaire-based study to examine the association between autistic characteristics, anxiety and IU. RESULTS: IU mediated the association between autism and anxiety in participants with CdLS but not in participants with FXS. CONCLUSIONS: These results suggest that other factors may contribute to the autism-anxiety relationship in FXS, and highlight the merit of syndrome-specific approaches to the study of anxiety. Recommendations are made for intervention-based research to ameliorate anxiety in CdLS.

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24. Tian W, Yan G, Zhang X, Zhang Y, Zhang J, Peng J, Zhao W, Shui D, Zhou Y, Liu T, Ye P, Tian M. Global burden of autism spectrum disorders among population aged 70 years and older from 1990-2021, with projections to 2040: findings from the Global Burden of Disease Study 2021. Mol Psychiatry;2025 (Aug 28)

Autism spectrum disorders (ASD) is a lifelong neurodevelopmental condition that negatively affects older adults, yet it receives minimal priority and limited attention in research and healthcare services for this population. Using data from Global Burden of Diseases, Injuries, and Risk Factors Study 2021, we estimated the prevalence and disability-adjusted life-years (DALYs) of ASD among population aged ≥70 years globally from 1990-2021, with projections to 2040. Decomposition analysis was conducted. Globally, the number of ASD cases among individuals aged ≥70 years increased from 894.7 thousand in 1990 to 2478.9 thousand in 2021, corresponding to an increase of 177.1%, with population growth contributing to the largest increase, followed by increased age-specific prevalence rates. It is projected that by 2040, the number of cases will reach 5150.9 thousand worldwide, accounting for 864.7 thousand DALYs. Between 1990 and 2021, the prevalence rate of ASD among the older population increased by 13.2%, projecting to increase steadily by 2040. Males had a higher prevalence rate of ASD in 2021 (773.6 versus 287.8 per 100,000 people) than females. High sociodemographic index (SDI) countries had the highest rate and the greatest increase. Similar trend patterns were observed in the number of DALYs and DALY rates. To address this overlooked but increasingly severe challenge, more attention and timely development of effective interventions and management services are needed. High SDI countries should focus on developing effective intervention and treatment strategies, while middle and low SDI countries need to improve screening and diagnostic capacities and public awareness of ASD.

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25. Toscano de Oliveira M, Borges Scriboni Gonzalez MA, Rosetto Boiate JV, Mesa V, Gonçalves DH, Gisse Pinto M, Ramos da Silva Pinto C, Costa Gomes Filho JE, Sivieri K. Altered gut microbiota composition and feeding behaviours in children with Autism Spectrum Disorder: a comparative pilot study. Ann Hum Biol;2025 (Dec);52(1):2535430.

BACKGROUND: Autism Spectrum Disorder (ASD) is a prevalent condition with poorly understood aetiology. Studies indicate that children with ASD exhibit more gastrointestinal alterations, nutritional deficiencies due to selective eating, and distinct gut microbiota profiles compared to neurotypical peers. AIM: To investigate the differences in gut microbiota composition and feeding behaviours between children with ASD and their typically developing peers. SUBJECTS AND METHODS: Faecal samples from 10 male children with ASD (mean age 6.2 years), and 10 male neurotypical controls (mean age 6.1 years) were analysed using 16S rRNA sequencing to assess gut microbiota composition. Guardians completed questionnaires on demographics, birth data, initial feeding habits (i.e. feeding practices after breastfeeding), gastrointestinal symptoms, stool characteristics, and feeding behaviours, which were assessed using the Brief Autism Mealtime Behaviour Inventory (BAMBI) scale. Additionally, a 48-hour dietary recall was collected to analyse the children’s nutritional intake. RESULTS: Significant differences in gut microbiota beta diversity were observed. Bacteroidota predominated in the control group, while Firmicutes, Actinobacteriota, and Proteobacteria were dominant in the ASD group. Genera Blautia and Bifidobacterium were enriched in controls, whereas Clostridium sensu stricto 1, Ruminococcus_torques_group, Lachnospiraceae_UCG004, and Bifidobacterium breve were more prevalent in ASD. Comorbidities, sodium intake, and BAMBI scale scores highlighted greater feeding-related behavioural issues in the ASD group. CONCLUSION: Children with ASD show notable differences in gut microbiota composition and feeding behaviours. The findings emphasise the need to address gastrointestinal and nutritional factors in ASD management.

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26. White SW, Brewe AM, Powell N. Stepped Transition to Employment and Postsecondary Education Success (STEPS) for Adolescents and Adults with Autism: Community Implementation Pilot Trial. JMIR Form Res;2025 (Aug 29);9:e70137.

BACKGROUND: Programming to optimize successful transition into adulthood and build skills for independence is consistent with the goal of improving autonomous living among adults with autism, which is a top stakeholder-identified priority. There has been surprisingly little research; however, on structured curricula targeting transition into adulthood. OBJECTIVE: This formative community pilot trial of Stepped Transition to Employment and Postsecondary Education Success (STEPS) was designed to test feasibility and effectiveness as implemented by community-based providers and, secondarily, to identify factors that affect implementation. METHODS: This was a 2-phase study. Phase 1 involved engagement with a group of community stakeholders to identify factors likely to influence implementation of STEPS. Phase 2 involved an open pilot trial of STEPS. In the Hybrid Type 1 trial, 24 adolescents and young adults with autism received STEPS in their communities at a local agency unaffiliated with the research study. RESULTS: Based on stakeholder input (Phase 1), several adjustments were made to the program before implementation (eg, increased attention to building client motivation and clarification of the role of caregivers). Stakeholders and providers indicated that STEPS could be successfully delivered and adopted in the community. From the pilot (Phase 2), results indicate feasibility of study procedures and intervention implementation, supporting future larger-scale implementation. Satisfaction (eg, how helpful and beneficial) with the program was reported as moderate or higher by the participants, and the only 2 drops occurred before the program start. Caregiver-rated transition readiness significantly increased from baseline to end point (P<.001), as well as some domains of functional independence (finance management, self-care, and engagement in the community; all P<.05). Employment and education status at the end point did not yield a clear pattern indicating a positive or negative impact of the program. CONCLUSIONS: This pilot study supports the feasibility, acceptability, and effectiveness of STEPS as delivered by community providers.

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27. Won H, Maher BJ. Myelination across the autism spectrum: therapeutic targeting of the oligodendrocyte lineage and myelination defects. Neuropsychopharmacology;2025 (Aug 28)

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28. Wu QF, Cai WM. The effects of an integrated sports and arts intervention on response joint attention (RJA) eye-movement characteristics in children with mild autism. Sci Rep;2025 (Aug 29);15(1):31925.

This study examines whether integrating sports and arts interventions enhances response joint attention (RJA) in children with mild autism and provides insights for diversifying intervention strategies for autism. 2024.6-2024.12,Twenty-four children with autism, aged 6-12 years, were recruited from an autism association in Anhui Province, China. Participants were randomized using a computer-generated sequence (allocation concealed from assessors) assigned to an experimental group (n = 12) or a control group (n = 12). Over 12 weeks, the experimental group participated in basketball and drawing lessons four times a week for 60 min per session, while the control group engaged only in routine activities and structured teaching provided by their school and the association. RJA performance was assessed pre- and post-intervention using eye-tracking technology, analyzing key metrics: time to first fixation (TFF), fixation count (FC), total fixation duration (TFD), total visit duration (TVD), visit count (VC), and the ratio of correct to incorrect for first responses. Post-intervention, the experimental group showed significantly greater improvements in RJA performance than the control group. Key metrics for the experimental group included TFF (0.52 ± 0.79), FC (36.35 ± 6.34), TFD (11.05 ± 1.33), TVD (17.05 ± 2.33), VC (24.25 ± 2.49), and correct-to-incorrect ratio (1.1 ± 0.1), all of which outperformed the control group: TFF (0.59 ± 0.11), FC (30.83 ± 2.14), TFD (9.47 ± 1.38), TVD (15.42 ± 1.51), VC (20.33 ± 1.87), and correct-to-incorrect ratio (0.97 ± 0.08),partialη(2) ranged from 0.25 to 0.78, with P < 0.05. Integrating sports and arts interventions significantly improves RJA in children with autism, highlighting the potential of these methods in enhancing attention-related behaviors.

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29. Xu X, Li Y, Lan H, Ding N, Li W, Zheng G, Song X. Quantitative susceptibility mapping shows alterations of brain iron content in children with autism spectrum disorder: a whole-brain analysis. BMC Psychiatry;2025 (Aug 27);25(1):826.

BACKGROUND: Iron deficiency in subcortical structures has been reported in previous studies using manually drawn regions of interest (ROIs). However, no whole-brain iron content studies in individuals with autism spectrum disorder (ASD) have been published. This study aimed to explore whole-brain iron content in ASD children using quantitative susceptibility mapping (QSM) and to examine relationships between clinical features of ASD and regional susceptibility values. METHODS: A total of 30 ASD children and 28 typically developing (TD) individuals who were matched for age and sex were prospectively recruited. Brain MRI scans were performed on each participant. Each brain region’s susceptibility value was compared between groups, and correlations with clinical manifestations were examined. RESULTS: The ASD patients showed significantly higher susceptibility values than TD children in the bilateral middle temporal gyrus, left inferior temporal gyrus, left inferior parietal gyrus, right lateral occipital gyrus, right insula, and bilateral rostral anterior cingulate gyrus. Conversely, significantly lower susceptibility was observed in the right cerebral white matter of ASD children. According to correlation analysis, susceptibility values in the left middle temporal gyrus, left inferior parietal gyrus, and right lateral occipital gyrus were negatively correlated with the Gesell Developmental Schedules (GDS) gross motor scores in the ASD group. CONCLUSIONS: ASD children had aberrant susceptibility values in cortical areas, and these abnormalities might be associated with their clinical features, which may provide new insights into understanding the pathophysiology of ASD.

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30. Zhu Y, Wei SY, Fu XT, Cheng X, Lin XH. Potential Mechanism Connecting Preeclampsia to Autism Spectrum Disorder in Offspring: The Role of Microglial Abnormalities. Front Biosci (Landmark Ed);2025 (Aug 29);30(8):36412.

Preeclampsia (PE) is a serious complication of pregnancy characterized by chronic inflammation and immune dysregulation, which significantly increases the risk of neurodevelopmental disorders in offspring, including the autism spectrum disorder (ASD). This review investigated the potential mechanisms linking PE to ASD, with a particular focus on the role of microglial abnormalities. Epidemiological studies have revealed that prenatal exposure to PE raised the risk of ASD, with affected offspring showing increased odds ratios. Microglia, the prime resident immune cells of the central nervous system (CNS), are critical for normal neurodevelopment, influencing processes such as neural stem cell (NSC) proliferation, synaptic pruning, and normal function of the neural circuit. Early-onset preeclampsia (EOPE) and late-onset preeclampsia (LOPE) may have an impact on the microglia abnormality and ASD through not exactly same pathway. Postmortem studies of ASD have further revealed increased microglial density, altered microglial morphology, and upregulated inflammatory markers in key brain regions, including the hippocampus and prefrontal cortex. Understanding the complex processes and potential mechanisms between EOPE, LOPE, microglial abnormalities, and ASD pathogenesis may highlight the importance of early screening and intervention for children born to mothers with PE. Targeting microglia-mediated pathways may offer novel therapeutic strategies to reduce the risk of ASD in these vulnerable populations.

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31. Ziegler SMT, Jeppesen P, Christiansen J, Conrad CE, Davidsen KA, Engkjær-Trautwein G, Engstrøm J, Fagerlund B, Gøtzsche MV, Hastrup LH, Jakobsen JC, Kirk AM, Lauritsen MB, Pagsberg AK, Pedersen MA, Kilburn TR, Thomsen PH, Varenne M, Bilenberg N. Paediatric Autism Communication Therapy (PACT) versus management as usual in autistic children: a protocol for a Danish pragmatic, national, randomised clinical trial: DAN-PACT. Trials;2025 (Aug 29);26(1):322.

BACKGROUND: Despite autism being a lifelong developmental condition affecting approximately 2% of children and young people worldwide, interventions aimed at improving core autism features are sparse. Paediatric Autism Communication Therapy (PACT) is among the first parent-mediated developmental interventions, provided in naturalistic settings, to show promising results in core feature improvement. METHODS: DAN-PACT is an investigator-initiated, independently funded, multicentre, parallel group superiority, randomised clinical trial, which aims to assess benefits and harms of PACT in 2.0-6.9-year-old children with a recent autism diagnosis, comparing PACT combined with management as usual to management as usual alone. Two hundred eighty autistic children from all regions of Denmark will be included. Primary outcome assessors, data managers, statisticians, and conclusion drawers will be blinded. The primary outcome is magnitude of autism features as measured by the ADOS-2 CSS. The sample size calculation is based on a minimal important difference of 0.66 points, corresponding to a 2-3-point difference in ADOS raw scores. Secondary outcomes are changes in child social communication skills measured with the BOSCC, child adaptive skills measured with the VABS-3, and parents’ assessment of their own and their child’s quality of life. Several exploratory outcomes will be assessed, including adverse events during the trial period. Trial staff will be trained to perform both PACT and enhanced management as usual, assessing manual fidelity of PACT and measuring a broad range of benefits and harms with repeated measures. DISCUSSION: DAN-PACT aims to minimise risks of bias, anchor the trial in a naturalistic clinical setting, and extend the scope of outcome measures used in previous PACT studies, achieved by blinding raters to all observational outcomes, including a large sample of young autistic children, and using an enhanced management as usual control sample. Trial limitations are the risk of missing data and the inability to blind parent participants to their group allocation and their rating of several secondary and exploratory outcomes. In addition, there is no consensus on the magnitude of the minimal important difference on ADOS-2 CSS or BOSCC, which are therefore estimated pragmatically. TRIAL REGISTRATION: ClinicalTrials.gov NCT05673096. Registered on December 22, 2022.

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