1. Antolí A, Rodriguez-Lozano FJ, Juan Cañas J, Vacas J, Cuadrado F, Sánchez-Raya A, Pérez-Dueñas C, Gámez-Granados JC. Using explainable machine learning and eye-tracking for diagnosing autism spectrum and developmental language disorders in social attention tasks. Front Neurosci;2025;19:1558621.

BACKGROUND: Eye-tracking technology has proven to be a valuable tool in detecting visual scanning patterns associated with autism spectrum disorder (ASD). Its advantages in easily obtaining reliable measures of social attention could help overcome many of the current challenges in the assessment of neurodevelopmental disorders. However, the clinical use of this technology has not yet been established. Two key challenges must be addressed: the difficulty in reliably distinguishing between disorders with overlapping features, and the efficient management of eye-tracking data to yield clinically meaningful outcomes. PURPOSE: The aim of this study is to apply explainable machine learning (XML) algorithms to eye-tracking data from social attention tasks involving children with ASD, developmental language disorder (DLD), and typical development (TD), in order to assess classification accuracy and identify the variables that best differentiate between groups. METHODS: Ninety-three children participated in a visual preference task that paired social and non-social stimuli, specifically designed to capture features characteristic of ASD. Participants were distributed across three groups: ASD (n = 24), DLD (n = 25), and TD (n = 44). Eye-tracking data were used to generate four datasets, which were then analyzed using XML algorithms to evaluate the accuracy of group classification across all possible combinations. RESULTS: The model achieved an F1-score of 0.912 in distinguishing DLD from TD, 0.86 for ASD vs. TD, and 0.88 for the combined ASD+DLD group vs. TD. Performance was moderate for ASD vs. DLD, with an F1-score of 0.63. The most informative areas of interest were those broadly grouping social and non-social stimuli, while more specific variables did not improve classification accuracy. Naive Bayes and Logistic Model Trees (LMT) emerged as the most effective algorithms in this study. The resulting model enabled the identification of potential disorder-specific markers, such as the mean duration of visits to objects. CONCLUSION: These findings highlight the potential of applying XML techniques to eye-tracking data collected through tasks designed to capture features characteristic of neurodevelopmental conditions. They also underscore the clinical relevance of such approaches for identifying the variables and parameters that differentiate between disorders.

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2. Boller AL, Ruland T, Dantas RL, Michels S, Dannlowski U, Scheu S, Baune BT, Culmsee C, Alferink J. The role of the risk gene CACNA1C in neuroinflammation and peripheral immunity in autism spectrum disorder. Brain Behav Immun;2025 (Jul 6)

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, restricted and repetitive behaviors and interests, with the severity of symptoms varying greatly among individuals. The pathogenesis of ASD is influenced by the complex interaction of genetic and environmental factors. Increasing evidence suggests that dysregulated immune processes represent a crucial aspect in ASD pathology. The CACNA1C gene, which encodes the pore-forming α1C subunit of the L-type calcium channel (LTCC) Ca(V)1.2, is a major genetic risk factor for ASD. Ca(V)1.2 channels modulate neuronal excitability, synaptic plasticity, and neurotransmitter release in the central nervous system (CNS), all of which are essential for brain development and function. Ca(V)1.2 channels are also expressed in generally non-excitable immune cells, including CNS microglia and peripheral immune cells, where they influence activation, differentiation, and cytokine release. These immune functions may contribute to ASD pathogenesis; however, the specific role of Ca(V)1.2 in immune regulation and neuroinflammation in ASD is yet to be elucidated. Here, we will review recent research on the role of CACNA1C in immune mechanisms relevant to ASD. We will summarize current knowledge on the function of Ca(V)1.2 in brain microglia and peripheral immune cells such as T cells, B cells, and dendritic cells that contribute to immune dysfunction in ASD. In addition, we will discuss the therapeutic prospects of targeting Ca(V)1.2 channels in immune cells to manage both behavioral and inflammatory conditions associated with ASD.

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3. Choi JW, Parenti M, Slupsky CM, Tancredi DJ, Schmidt RJ, Shin HM. Maternal serum and placental metabolomes in association with prenatal exposure to per- and polyfluoroalkyl substances and their relevance to child neurodevelopment in an ASD-enriched cohort. Environ Pollut;2025 (Jul 9);383:126811.

Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) has been linked to altered neurodevelopment in children, but the contribution of maternal metabolic disruption to this relationship remains unclear. We investigated associations between prenatal PFAS exposure, maternal metabolism, and child neurodevelopment. We analyzed 172 mother-child pairs from the MARBLES (Markers of Autism Risk in Babies-Learning Early Signs) cohort. Nine PFAS were measured in maternal serum collected during pregnancy. Metabolites were quantified in third-trimester serum and placental tissue using proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. At age three, children were clinically classified as having autism spectrum disorder (ASD), typical development (TD), or non-typical development (non-TD), the latter including children with atypical developmental features who do not meet the criteria for ASD. Multiple linear regression assessed associations between individual PFAS and metabolites, and quantile-based g-computation evaluated PFAS mixture effects. Principal component analysis (PCA) summarized metabolomic profiles. One-way analysis of covariance (ANCOVA) and multinomial logistic regression examined associations between metabolites and child neurodevelopment. Correlation network analysis explored relationships among PFAS, serum, and placental metabolites. After multiple comparison correction, perfluorooctane sulfonate (PFOS) was significantly associated with serum 2-hydroxybutyrate (q < 0.10). Higher perfluorooctanoate (PFOA), PFOS, and PFAS mixture levels were associated with lower serum PC-2 scores. Higher serum PC-3 score, reflecting mitochondrial dysfunction, was associated with increased non-TD risk. Network analysis identified 2-hydroxybutyrate as a key serum metabolite potentially linked to PFAS and placental amino acids. Prenatal PFAS exposure was associated with maternal metabolic alterations; however, no clear linkage to child neurodevelopment were observed. These findings suggest the need to consider gene-environment interactions in studies of neurodevelopmental outcomes.

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4. Davis NO, Carpenter KLH, Sabatos-DeVito M, Spanos M, Reed A, Aiello RE, Schechter JC, Chandrasekhar T, Compton S, Franz L, Goldstein BA, Howard J, Vermeer S, Sikich L, Kollins SH, Dawson G. Assessment of Attention-Deficit/Hyperactivity Disorder in Young Autistic Children. J Clin Child Adolesc Psychol;2025 (Jul 9):1-14.

OBJECTIVE: Co-occurring attention-deficit/hyperactivity disorder (ADHD) is present for many autistic children and is associated with increased impairments, unique treatment needs, and decreased response to autism-specific interventions. Diagnosing ADHD in autistic children during the preschool and early school-age periods presents unique challenges for clinicians. METHODS: This work describes a clinically informed diagnostic framework for assessing ADHD in young autistic children. Clinical complexities are illustrated using descriptive data from caregiver and clinician ratings of ADHD symptoms in autistic children without ADHD (n = 83; mean age 63.6 months [SD = 19.2]) and with ADHD (n = 102; mean age 85.9 months [SD = 23.7]). Patterns of caregiver and clinician symptom endorsement are described. Logistic regression is employed to explore clinician confidence in diagnostic decision-making. RESULTS: Clinical interview probes are presented to help clinicians explore caregiver ratings of ADHD symptoms in the context of an autistic child’s presentation. Demonstrating the complexity of diagnosing ADHD in autistic children, caregiver-rated ADHD Rating Scale scores were elevated for both the autistic (M = 27.8; SD = 11.5) and autistic+ADHD groups (M = 34.9; SD = 9.37). Patterns of clinician-caregiver agreement on ADHD symptom ratings showed more disagreement on inattention items than on hyperactivity/impulsivity items across both groups. Clinicians were more confident in ADHD diagnosis in autistic children who were girls, older, and had higher developmental levels. CONCLUSIONS: This manuscript highlights the clinical complexity of evaluating young autistic children for ADHD. Practical tips for addressing the unique challenges of diagnosing ADHD in autistic children are presented. Continued refinement and future validation of this diagnostic framework will help clinicians improve assessment of young children.

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5. Doctor KP, McKeever C, Wu D, Phadnis A, Plawecki MH, Nurnberger JI, Jr., José JV. Deep learning diagnosis plus kinematic severity assessments of neurodivergent disorders. Sci Rep;2025 (Jul 8);15(1):20269.

Early diagnostic assessments of neurodivergent disorders (NDD), remains a major clinical challenge. We address this problem by pursuing the hypothesis that there is important cognitive information about NDD conditions contained in the way individuals move, when viewed at millisecond time scales. We approach the NDD assessment problem in two complementary ways. First, we applied supervised deep learning (DL) techniques to identify participants with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), comorbid ASD + ADHD, and neurotypical (NT) development. We measured linear and angular kinematic variables, using high-definition kinematic Bluetooth sensors, while participants performed the reaching protocol to targets appearing on a touch screen monitor. The DL technique was carried out only on the raw kinematic data. The area under the receiver operator characteristics curve suggests that we can predict, with high accuracy, NDD participant’s conditions. Second, we filtered the high frequency electronic sensor noise in the recorded kinematic data leaving the participants’ physiological characteristic random fluctuations. We quantified these fluctuations by their biometric Fano Factor and Shannon Entropy from a histogram distribution built from the magnitude difference between consecutive extrema unique to each participant, suggesting a relationship to the severity of their condition. The DL may be used as complementary tools for early evaluation of new participants by providers and the new biometrics allow for quantitative subtyping of NDDs according to severity.

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6. Fernandes K, Righetto Greco AL, de Oliveira NRG, Medeiros M, Spittle A, Martins Roberto Formiga CK. Family Perceptions of Barriers and Facilitators of a Telehealth Program to Support Infants at Risk for Developmental Delays. J Mother Child;2025 (Feb 1);29(1):47-54.

BACKGROUND: Telehealth was an alternative in many countries during the COVID-19 pandemic for infants at risk of developmental delays. However, some barriers still challenge the adoption of telehealth as a care option, particularly once face-to-face interventions recommenced. This study aimed to identify the barriers and facilitators of a telehealth program to support infants at risk for developmental delays. MATERIALS AND METHODS: A prospective longitudinal study was conducted with 30 infants born at risk of developmental delay (preterm or term, with mean age of 3.1 months). Infants were enrolled between 2-12 months of corrected age. The program consisted of weekly telehealth sessions with a physical therapist focusing on supporting children’s cognitive, motor, speech, and language development. After 6 months, the caregivers answered a questionnaire on perceived barriers and facilitators of the telehealth program. RESULTS: A mean of 9.5 (range 2-12) sessions were carried out. Most caregivers (80%) felt comfortable and satisfied with the program, found the application for video calls easy to use, got help with their questions, and perceived improvements in the development of their infants. The main barrier was most caregivers rated the concern regarding their child as low (53.3%). CONCLUSION: Caregivers considered the telehealth program satisfactory and viable for complementary care and monitoring of infants’ development.

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7. Hatch B, Andrews DS, Dufour B, Alavynejad SM, Lee JK, Rogers S, Solomon M, Miller M, Wu Nordahl C. Hypothalamic volume is associated with dysregulated sleep in autistic and non-autistic young children. Autism;2025 (Jul 9):13623613251352249.

Difficulty initiating or maintaining sleep is common among autistic individuals and co-occurs with internalizing and externalizing symptoms. This study tested associations between subcortical regions implicated in sleep processes and measures of dysregulated sleep initiation/maintenance in autistic and non-autistic 2- to 4-year-olds. The role of co-occurring externalizing and internalizing symptoms in these associations was also evaluated. Participants included 203 autistic (131 males, 72 females) and 92 non-autistic (49 males, 43 females) 2- to 4-year-olds who completed magnetic resonance imaging. A subscale of items from the Children’s Sleep Habits Questionnaire, previously shown to be reliable across both autistic and non-autistic children, was used to measure dysregulated sleep initiation/maintenance. Externalizing and internalizing symptoms were evaluated using the Child Behavior Checklist-Preschool. Associations between volumes for nine subcortical structures known to be implicated in sleep were separately modeled. Mediation analyses explored whether such associations could be accounted for by externalizing or internalizing symptoms. Smaller right hypothalamus volume was associated with dysregulated sleep initiation/maintenance in both autistic and non-autistic children. Externalizing (but not internalizing) problems partially mediated this association. Findings implicate the right hypothalamus in sleep initiation and maintenance issues for both autistic and non-autistic young children, supporting prior evidence of its central role in sleep regulation.Lay AbstractDifficulty initiating or maintaining sleep is common among autistic individuals and often goes alongside difficulties regulating emotions and behavior during the day. Although there is a body of research suggesting that subcortical brain regions, including a brain region known as the hypothalamus, play important roles regulating sleep, few studies have examined whether this extends to young autistic children. Using data from a sample of 203 autistic (131 males, 72 females) and 92 non-autistic (49 males, 43 females) 2- to 4-year-olds, we examined whether size of subcortical brain regions implicated in sleep processes is associated with difficulties initiating and/or maintaining sleep. In addition, we examined whether daytime behaviors and emotions were also implicated in these associations. We found that smaller right hypothalamus volume was associated with dysregulated sleep initiation/maintenance in both autistic and non-autistic children. This relationship remained evident even after accounting for externalizing behaviors and emotions like anger that were also associated with both the hypothalamus and dysregulated sleep initiation/maintenance. The strength of association between right hypothalamus volumes and dysregulated sleep initiation/maintenance was similar for autistic and non-autistic children. These findings suggest that for both young autistic and non-autistic children, the hypothalamus plays unique roles in regulating both sleep and externalizing behaviors. For managing sleep initiation and maintenance difficulties in clinical practice, the findings underscore the importance of considering environmental (e.g. not having a regular bedtime routine) and neurobiological factors, for both autistic and non-autistic young children.

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8. Kagawa T, Yamaguchi Y, Kokubu Y, Sudo G, Ebisawa A, Hattori S, Takao K, Konno K, Nakagata N, Inoue T, Watanabe M, Inazawa J, Miyakawa T, Taga T. Mutation of the histone demethylase Gasc1 causes ASD-like symptoms in mice. Inflamm Regen;2025 (Jul 9);45(1):22.

BACKGROUND: Genomic analyses of psychiatric disorders, including autism spectrum disorder (ASD), have revealed many susceptibility genes, suggesting that such disorders may be caused by multiple factors. In this sense, it has long been a question whether there is an abnormal genetic status that comprehensively explains the pathogenesis of neuropsychiatric disorders or a »promising upstream treatment target »that normalizes symptoms. METHODS: To address this question, we provide important clues with respect to GASC1 (JMJD2 C/KDM4 C), which is a histone demethylase that prominently targets trimethylated histone H3 at lysine 9 (H3 K9 me3). Gasc1 hypomorphic mutant mice were analyzed using molecular biological, biochemical, behavioral battery tests, histological, and electrophysiological techniques. RESULTS: Mice homozygous for a hypomorphic mutation in Gasc1 exhibited abnormal behaviors, including hyperactivity, stereotyped behaviors, and impaired learning and memory, which are reminiscent of those of human psychiatric disorders. Electrophysiological studies of hippocampal slices revealed decreased paired-pulse facilitation and enhanced long-term potentiation, suggesting synaptic dysfunction in the mutants. Increased dendritic spine density in CA1 neurons was also detected in the mutants. Intriguingly, genetic linkage studies of human ASD have mapped a susceptibility locus on chromosome 9p24.1, which contains 78 genes, including the GASC1 gene. CONCLUSION: Taken together, our data suggest that histone demethylation plays a pivotal role in normal brain development and higher-order brain functions in both mice and humans.

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9. Kalingel Levi M, Granovsky Y, Weissman-Fogel I, Shalita TB, Hoffman T, Gal E. Development and Validation of the Pain Awareness Scale (PAS) for Autistic Adults: A Mixed-Methods Study. J Pain;2025 (Jul 9):105491.

This study aimed to develop and validate the Pain Awareness Scale (PAS), a novel self-report questionnaire designed to assess pain awareness in autistic adults. Using a mixed-methods approach, the PAS was developed through literature review, expert consultation, and cognitive interviews with nine autistic adults (5 females, mean age= 29.1, SD= 7.9). The questionnaire was then administered to 59 autistic (24 females, mean age=26.8, SD=7.4) and 73 neurotypical adults (19 females, mean age=27.8, SD=6.7). Principal Axis Factoring revealed four distinct subscales: Pain Recognition, Pain Characterization, Nonverbal Pain Communication, and Verbal Pain Communication. The PAS demonstrated good internal consistency across all subscales (Cronbach’s α=0.71-0.92) and strong construct validity, with autistic adults scoring significantly higher than neurotypical adults’ total score and on three out of four subscales (p < 0.001). Convergent Validity was supported by significant correlations between the PAS and the Toronto Alexithymia Scale-20 (TAS-20) total scores (ρ= 0.69, p< 0.01). The PAS offers a reliable and valid tool for assessing pain awareness difficulties in autistic adults. PERSPECTIVE: This article introduces the Pain Awareness Scale (PAS), a psychometrically validated measure of pain awareness in autistic adults. The PAS may enhance clinical assessment and deepen understanding of pain processing differences in autism, offering insight into underlying mechanisms relevant for both clinical and basic science research.

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10. Kostet I. The (in)visibilisation of ‘ethnicity’, ‘race’ and ‘culture’ as constructs of difference in Global North autism disparities research. Autism;2025 (Jul 8):13623613251355247.

Research evidences significant ethnic and racial disparities in the identification and diagnosis of autism in Global North contexts, sparking interest in how cultural factors contribute to these disparities. Despite this interest, however, the concept of ‘culture’ remains underdeveloped in autism research, where ethnic, racial, and other social categories are also often conflated. This has led to selective and limited explanations of how ‘culture’ influences the observed disparities. This commentary article discusses how autism research on the observed disparities in Global North contexts tends to hyper-visibilise ethnicity and race as proxies for ‘differences’, perpetuating cultural essentialist explanations for inequalities in diagnostics and social services. At the same time, research exploring autism as a constructed and negotiated ‘culture’ and ‘identity’ nearly renders ethnicity and race invisible. Consequently, little is known about how autism is initially shaped in intersection with ethnicity and race, how we collectively envision autistic individuals, and the extent to which our collective images are ethnically or racially diverse. This article advocates for a broader definition of culture in autism scholarship, emphasising how autism disparities also result from how autism is constructed and negotiated through processes of meaning-making.Lay abstractResearch shows that people from ethnic and racial minority groups in North America and Europe are confronted with major inequalities in the identification and diagnosis of autism. This has led to growing interest in autism research in how cultural factors might contribute to these differences. However, the way ‘culture’ is understood in autism research is still limited. Often, ethnic, racial and national backgrounds are mixed together, leading to narrow explanations for why these disparities exist. Concretely, this article explores how autism research often highlights ethnicity and race as markers of ‘difference’, which can reinforce oversimplified ideas about why these diagnostic inequalities occur. On the contrary, when autism is studied as a social identity or culture, ethnicity and race are almost ignored. Because of this, we know very little about how society imagines autistic people, and how diverse these images actually are in ethnic or racial terms. This study argues for a broader understanding of ‘culture’ in autism research, urging scholars to consider how autism is often viewed as primarily a ‘white’ condition through cultural and social interpretations. This approach could help better understand and address the disparities in autism diagnosis.

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11. Krishnan M, Mydeen AB, Nakhal MM, Ibrahim MF, Jayaraj RL, Ljubisavljevic MR, Hamad MIK, Ismail FY. Altered dendritic morphology of MEC II pyramidal and stellate cells in Rett syndrome mice. Front Neuroanat;2025;19:1580435.

INTRODUCTION: Mutations in the methyl-CpG-binding protein-2 gene (MECP2), which cause Rett syndrome (RTT), disrupt neuronal activity; however, the impact of the MECP2 loss-of-function on the cytoarchitecture of medial entorhinal cortex layer II (MECII) neurons-crucial for spatial memory and learning-remains poorly understood. METHODS: In this study, we utilized Golgi staining and neuron tracing in the Mecp2(+/-) mouse model of RTT to investigate the pyramidal and stellate cell alterations in MECII. RESULTS AND DISCUSSION: Our findings revealed that pyramidal cells displayed a significant reduction in apical dendritic length, soma size, and spine density, while basal dendrites showed increased dendritic complexity and branching. On the other hand, stellate cells exhibited dendritic hypertrophy along with increased soma size, primary dendrites, and localized increase in dendritic intersections, despite an overall reduction in total dendritic length and spine density. These findings underscore the notion that MECP2 loss-of-function can disrupt MECII pyramidal and stellate cell cytoarchitecture in a cell-type-specific manner, emphasizing its critical role in maintaining proper dendritic morphology in circuits, which is crucial for learning and memory.

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12. Litman A, Sauerwald N, Green Snyder L, Foss-Feig J, Park CY, Hao Y, Dinstein I, Theesfeld CL, Troyanskaya OG. Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs. Nat Genet;2025 (Jul 9)

Unraveling the phenotypic and genetic complexity of autism is extremely challenging yet critical for understanding the biology, inheritance, trajectory and clinical manifestations of the many forms of the condition. Using a generative mixture modeling approach, we leverage broad phenotypic data from a large cohort with matched genetics to identify robust, clinically relevant classes of autism and their patterns of core, associated and co-occurring traits, which we further validate and replicate in an independent cohort. We demonstrate that phenotypic and clinical outcomes correspond to genetic and molecular programs of common, de novo and inherited variation and further characterize distinct pathways disrupted by the sets of mutations in each class. Remarkably, we discover that class-specific differences in the developmental timing of affected genes align with clinical outcome differences. These analyses demonstrate the phenotypic complexity of children with autism, identify genetic programs underlying their heterogeneity, and suggest specific biological dysregulation patterns and mechanistic hypotheses.

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13. Ljungberg B, Westergren A. Perspectives: Digital media use in children with autism: balancing benefits and risks. A nursing perspective. J Res Nurs;2025 (Jun);30(4):406-410.

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14. Nandipati S, Reddy A. Gender Dysphoria & Dissociative Identity Disorder in Autism Spectrum Disorder. Psychopharmacol Bull;2025 (Jul 4);55(4):104-109.

This patient is a 17 year old Caucasian transgender male (FTM) with autism spectrum disorder (ASD level 1), gender dysphoria (GD), and dissociative identity disorder (DID). The patient has multiple psychiatric comorbidities including obsessive-compulsive disorder (OCD), generalized anxiety disorder (GAD), attention-deficit hyperactivity disorder (ADHD), emotional dysregulation, trauma and stressor disorder, and insomnia. Medical comorbidities include 16p13.3 and 16p24.3 microdeletions, hypotonia, bilateral cataracts (surgically corrected), and minimal change disease. To our knowledge, this is the first case report in which the patient is suffering from ASD, GD, and DID as comorbid diagnoses. Our review of this patient serves to highlight the complexity of providing care to patients with a comorbidity of ASD, GD, and DID, as well as the complexity in distinguishing these conditions from one another.

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15. Ng-Cordell E, Storch EA, Kendall PC, Wood JJ, Mikami AY, Kerns CM. Implications of cooccurring ADHD for the cognitive behavioural treatment of anxiety in autistic children. J Child Psychol Psychiatry;2025 (Jul 9)

BACKGROUND: Childhood mental health conditions commonly cooccur, with potential treatment implications. Autistic children frequently experience anxiety and attention deficit/hyperactivity disorder (ADHD). We investigated the implications of this cooccurrence for Cognitive Behavioural Therapy (CBT), a front-line treatment for anxiety in autistic children. We tested whether (1) ADHD predicts anxiety treatment response, (2) ADHD improves in response to anxiety treatment and (3) ADHD improvement is related to reductions in anxiety. METHOD: Autistic children with elevated anxiety (N = 167) enrolled in a multisite, randomised controlled trial comparing standard CBT, autism-adapted CBT and treatment as usual. ADHD symptoms and severity were assessed via a parent-report questionnaire and clinical interview, respectively. Linear regressions (questions 1 and 2) and linear mixed models (question 3) were conducted with adjustments for multiple comparisons. RESULTS: Participants meeting diagnostic criteria for ADHD (62%) had greater pretreatment anxiety severity and anxiety-related functional impairment, particularly at school. ADHD did not moderate anxiety response following CBT. Receiving CBT (standard or adapted) predicted reduction in evaluator-rated ADHD severity, but not parent-reported symptoms. Reduction in anxiety severity predicted reduction in ADHD symptoms and severity. CONCLUSIONS: Existing CBT programmes are suitable for treating anxiety in autistic children with cooccurring ADHD. Future research should identify mechanisms through which CBT for anxiety also mitigates ADHD, with the aim of improving treatment precision and effectiveness.

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16. Raji N, Kitzerow-Cleven J, Kim Z, Kleber SK, Polzer L, Lemler C, Ring M, Taurines R, Geißler J, Fröhlich U, Noterdaeme M, Bast N, Freitag CM. Capturing change in restricted and repetitive behaviour in preschoolers with ASD: A comparison of direct behavioural observation and parent report. J Child Psychol Psychiatry;2025 (Jul 9)

BACKGROUND: Restricted and repetitive behaviour (RRB) in autism spectrum disorder (ASD) can be assessed by different measures, which diverge in item quantity, dimensionality or source of information. However, change sensitivity has not been systematically investigated among commonly used measures, albeit its importance for clinical trials and longitudinal studies. METHODS: Longitudinal data resulting from behavioural observation (Autism Diagnostic Observation Schedule-2, ADOS-2; Brief Observation of Social Communication Change, BOSCC) and parent report (Restricted Behaviour Scale-Revised, RBS-R) was collected for 134 toddlers and preschoolers aged 25-65 months diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) and ADOS-2. Change sensitivity was estimated using the reliable-change index and developmental trajectories of RRB by linear mixed models and k-means clustering. RESULTS: The RBS-R identified significantly more reliable change in RRB severity compared to ADOS-2 and BOSCC. For all measures, except the RBS-R self-injurious behaviour subscale, three distinct RRB trajectories were found as follows: increasing, stable and decreasing RRB severity. Overlap was low between trajectory group assignment across measures, as were cross-sectional correlations between ADI-R, ADOS-2, BOSCC and RBS-R. Trajectory group comparisons among measures mostly showed lower baseline RRB severity in the increasing trajectory groups and higher baseline RRB severity in the decreasing trajectory groups. The trajectory groups did not differ in age or nonverbal IQ across RRB measures, except for the RBS-R compulsive behaviour subscale, which had higher nonverbal IQ in the decreasing trajectory group. CONCLUSIONS: The dimensional questionnaire RBS-R compared to ADOS-2 and BOSCC is superior in capturing subtle changes in RRB during preschool age.

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17. Salehi AM, Chegini SB, Esmaeili F, Rabiei N, Jenabi E, Rezaei M. The Psychometric Properties of the Iranian Version of Repetitive Behavior Scale-Revised (RBS-R) Questionnaire in Children With Autism Spectrum Disorder. Health Sci Rep;2025 (Jul);8(7):e70984.

BACKGROUND AND AIMS: Restricted and repetitive behaviors (RRBs) are fundamental characteristics of autism spectrum disorders (ASD). There is a need for a reliable and valid instrument to evaluate the diversity of RRBs and assess their severity. The Repetitive Behavior Scale-Revised (RBS-R) is a recognized tool for screening RRBs. This study aims to investigate the psychometric properties of the RBS-R questionnaire in Iran by identifying children with ASD who have Persian-speaking parents. METHODS: In this case-control study conducted in 2024 in Hamadan, 160 children were included: A case group diagnosed with autism (25 girls, 52 boys) and a control group of healthy volunteer children (30 girls, 53 boys) aged 4-12 years. The ASD group exhibited a minimum mean length of utterance (MLU) of 2. Participants diagnosed with intellectual disabilities were excluded from the study. The study assessed the reliability, content validity, and face validity to evaluate the psychometric properties of the tool. Exploratory factor analysis was used to identify questionnaire subscales. All assumptions, including the Kaiser-Meyer-Olkin (KMO) test, Bartlett’s test, and question correlations, were checked. Subscales were extracted using ordinary least squares (OLS) and Equamax rotation, with the number of subscales determined based on the Scree plot method and eigenvalues greater than 1. RESULTS: The study identified six factors (aggressive, focused and self-harming, resistant to change, obsessive, ritualistic, and insistent), which together explained 51.082% of the total variance. The Cronbach’s alpha value for the Persian version of RBS-R was reported as 0.924. The questionnaire showed a sensitivity of 88.31%, specificity of 83.13%, positive predictive value of 82.93%, negative predictive value of 88.46%, and an area under the curve of 91.7%. The selected cutoff value in this study was determined to be 17.5. CONCLUSION: The Persian version of the RBS-R is valid and reliable. It also demonstrated acceptable internal consistency and sensitivity, suggesting that it can be used as a screening measure for ASD in Iran.

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18. Scheeren AM, Nieuwenhuis S, Crane L, Roke Y, Begeer S. Masking, social context and perceived stress in autistic adults: An ecological momentary assessment study. Autism;2025 (Jul 9):13623613251353358.

Masking may entail the suppression of autistic traits by autistic individuals. Thus far, research indicates a negative impact of autistic masking on mental health, but this is largely based on retrospective surveys. In this study, we used ecological momentary assessment to examine real-time associations between social context (i.e. presence of (non-)autistic others), masking, and perceived stress in everyday life among a sample of autistic adults. Ecological momentary assessment data were collected via a smartphone application for 87 autistic individuals (58 females; M age = 48; age range: 17-68). In line with the hypotheses, repeated measures analyses of variance and linear mixed models indicated that (1) participants reported masking significantly less when they were alone compared with when others were present, (2) participants masked significantly more when non-autistic others were present compared with autistic others, and (3) more masking was associated with a concurrent higher level of perceived stress. Autistic adults reported they could be more themselves among autistic peers and reduced masking was associated with reduced stress. These ecological momentary assessment study findings provide ecological validity to the potential stressful impact of masking in the daily lives of autistic adults.Lay abstractAutistic people may try to hide their autistic traits in order to fit in. This is called autistic masking. Survey research suggests that autistic masking may have a negative effect on the mental well-being of autistic people. Yet, survey research has limitations, because people may not remember or may not accurately report how much they masked and how they felt in the past. Therefore, in this study, we asked autistic adults to use a smartphone app to report with whom they were (with or without autistic people), if they could be themselves (degree of masking), and how stressed they felt during the past 4 h. Participants reported this information multiple times over a period of 28 days. In total, 87 autistic adults participated (58 females; age range: 17-68). In line with our expectations, (1) participants masked less when they were alone compared with when others were present, (2) participants masked more when non-autistic others were present compared with autistic others, and (3) more masking was linked with the experience of more stress in the same moment. Autistic adults reported they could be more themselves among other autistic individuals. Also, less masking was associated with less stress. Our study shows the everyday reality of stress during masking experienced by autistic adults.

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19. Schmitz F, Hennemann T, Leidig T, Schottel M, Eiben K, Vögele U, Jung M, Gerlach S, Hanisch C. [Not Available]. Prax Kinderpsychol Kinderpsychiatr;2025 (Jul);74(5):440-459.

Mental Health Problems and Care Situation in Students with Problem Behaviour from the Autism Spectrum (ASD) at Special Schools for Emotional and Behavioral Disorder (EBD) Children Children and adolescents with ASD often require specific support both inside and outside of school. The majority of these children are educated at special schools for emotional and behavioral disorder (EBD). There is no data available on how often ASD problems occur at EBD special schools, what other emotional and behavioral problems are shown, and how the students are supported. In the study, teachers at EBD special schools were surveyed on their pupils’ mental health problems, including ASD, and the use of care services (N = 551). 19.0 % were rated as having problems in the autism spectrum, 16.7 % as having slight problems, and 64.3 % as having no problems in the autism spectrum. Pupils with behavioral problems in the autism spectrum were considered to be more affected by symptoms of depression, anxiety, compulsions and tics, among others. The values for functional impairment and distress were also significantly higher. Furthermore, children with elevated scores in the ASD spectrum receive significantly less psychotherapy and significantly more school support and speech therapy. Pupils with ASD symptoms make slightly more use of support services than other children, despite much higher levels of strain. There seems to be a gap in care that is relevant for the adaptation of conditions in schools and medical- and therapeutic services.

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20. Secara MT, Khan Z, Rashidi A, Oliver LD, Yu JC, Foussias G, Dickie EW, Szatmari P, Desarkar P, Lai MC, Baracchini G, Malhotra AK, Buchanan RW, Voineskos AN, Ameis SH, Hawco C. Transdiagnostic Profiles of BOLD Signal Variability in Autism and Schizophrenia Spectrum Disorders: Associations with Cognition and Functioning. bioRxiv;2025 (Jul 2)

BACKGROUND: Autism spectrum disorder (autism) and schizophrenia spectrum disorders (schizophrenia) exhibit overlapping social and neurocognitive impairment and considerable neurobiological heterogeneity. Blood-oxygen-level-dependent (BOLD) signal variability captures the brain’s moment-to-moment fluctuations, offering a dynamic marker of neural flexibility that is sensitive to cognitive capacity. This study aimed to examine intra-regional BOLD signal variability during rest and task across schizophrenia, autism, and typically developing controls (TDC) to explore transdiagnostic patterns of brain signal variability and their relationship with cognitive and functional outcomes. METHODS: Intra-regional BOLD variability, measured by mean squared successive difference (MSSD), was obtained from resting-state and Empathic Accuracy task fMRI in 176 SSD, 89 autism, and 149 TDC participants. ANCOVAs, controlling for age, sex, and motion, assessed group differences in regional and network-level BOLD variability and dimensional associations with social cognition, neurocognition, social functioning, and symptom severity. RESULTS: Both autism and schizophrenia exhibited lower BOLD signal variability than TDC across rest and task, with reduced variability observed in somatomotor, visual, and auditory networks (pFDR < 0.01). Greater network variability was positively associated with better social cognitive, neurocognitive, and functional scores across the sample. Resting-state variability showed stronger group-based differences and cognitive associations than task-based variability. CONCLUSIONS: BOLD signal variability is positively associated with social cognition, neurocognition, and social functioning across groups, suggesting that variability impacts cognitive efficiency and behaviour. Reduced variability in autism and schizophrenia may indicate similar patterns of neural rigidity among these related conditions, positioning BOLD variability as a potential biomarker for neural flexibility and a valuable target for future transdiagnostic clinical interventions.

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21. Töret G, Ökcün Akçamuş M, Töret Z, Gürses İ, Okumuş Z, Atmaca F, Karaman N, Endürlük S, Öztürk M. Is developmental imitation related to rational imitation in young children with ASD?. J Exp Child Psychol;2025 (Jul 7);260:106341.

This study used a correlational design to examine associations between instructed imitation, spontaneous imitation, and rational imitation in children with autism spectrum disorder (ASD) between 23-48 months of age (n = 40) and typically developing (TD) children between 12-24 months of age (n = 42). The study utilized seminal experiments, the head-touch paradigm, and the hidden box to measure rational imitation. Also, the study first utilized IMETCHASD as an alternative tool in the literature to measure instructed imitation and spontaneous imitation in an interactive play context. Results showed that spontaneous imitation was associated with rational imitation in ASD. These associations were observed after controlling for cognitive level. However, the study did not find significant correlations between instructed imitation and rational imitation in both groups. Implications for the relationship are discussed in terms of theoretical accounts for the occurrence of rational imitation and further research needs.

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22. Treccarichi S, Vinci M, Cirnigliaro L, Messina A, Palmigiano A, Pettinato F, Musumeci A, Chiavetta V, Saccone S, Sturiale L, Calì F, Barone R. MAN2A2-related glycosylation defects in autism and cognitive delay. Sci Rep;2025 (Jul 8);15(1):24471.

Glycosylation is a post-translational modification essential for proper protein folding and function, with significant roles in diverse biological processes, including neurogenesis. MAN2A2 enzyme is required for proper N-glycan trimming/maturation in the N-glycosylation pathway. Whole-exome sequencing of a trio revealed two potentially causative variants in the MAN2A2 gene in a patient with autism spectrum disorder (ASD) and cognitive delay. The first variant, c.1679G > A (p.Arg560Gln), was inherited from the unaffected father. It is located within the alpha-mannosidase middle functional domain, a region essential for mannose metabolism and alpha-mannosidase enzymatic activity. The second variant, c.3292C > T (p.Gln1098Ter), was inherited from the mother and it generated a premature stop codon. These variants resulted in a compound heterozygous condition in the patient. Prediction using the DOMINO tool suggested an autosomal recessive inheritance pattern. Notably, the MAN2A2 gene is highly expressed in several brain regions. The encoded enzyme, an alpha-mannosidase, is localized to the Golgi apparatus, the cellular organelle where the processing and maturation of N-glycans occurs. In silico analyses consistently classified both variants as likely pathogenic, supported by structural prediction analyses that indicated significant disruptions in protein architecture. Glycosylation analyses demonstrated impaired N-glycosylation, evidenced by the accumulation of immature serum glycoprotein N-glycans including disease-specific hybrid-type species. Further investigations are essential to elucidate the role of this gene in ASD and cognitive delay.

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23. Uscătescu LC, Hyatt CJ, Dunn J, Kronbichler M, Calhoun V, Corbera S, Pelphrey K, Pittman B, Pearlson G, Assaf M. Using the excitation/inhibition ratio to optimize the classification of autism and schizophrenia. Transl Psychiatry;2025 (Jul 9);15(1):234.

The excitation/inhibition (E/I) ratio has been shown to be imbalanced in individuals diagnosed with autism (AT) or schizophrenia (SZ), relative to neurotypically developed controls (TD). However, the degree of E/I imbalance overlap between SZ and AT has not been extensively compared. In this project, we used resting state fMRI data to estimate the E/I ratio via the Hurst (H) exponent. Our main objectives were (1) to quantify group differences in the E/I ratio between TD, AT, and SZ, (2) to assess the potential of the E/I ratio for differential diagnosis, and (3) to verify the replicability of our findings in an independently acquired dataset. For each participant, we computed the Hurst exponent (H), an indicator of the E/I ratio, from the time courses of 53 independent components. Using a random forest classifier (RF), we ran a classification analysis using the larger of the two datasets (exploratory dataset; 519 TD, 200 AT, 355 SZ) to determine which of the 53 H would yield the highest performance in classifying SZ and AT. Next, taking the ten most important H based on the exploratory dataset, in combination with phenotypic information collected in the replication dataset (55 TD, 30 AT, 39 SZ), we used RF to compare the classification performance using five feature sets: (a) H only; (b) Positive and Negative Syndrome Scale (PANSS) and the Autism Diagnostic Observation Schedule (ADOS) only; (c) PANSS, ADOS, Bermond-Vorst Alexithymia Questionnaire (BVAQ), Empathy Quotient (EQ), and IQ; (d) H, PANSS and ADOS; (e) H, PANSS, ADOS, BVAQ, EQ and IQ. Classification performance using H only was higher in the exploratory dataset (AUC = 84%) compared to the replication dataset (AUC = 72%). In the replication dataset, the highest classification performance was obtained when combining H with PANSS, ADOS, BVAQ, EQ and IQ (i.e., model e; AUC = 83%). These results illustrate the added value of E/I to typical phenotypic data in differentiating AT and SZ.

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24. Vinogradova Y, Jack RH, Prasad V, Coupland C, Morriss R, Hollis C. Guidelines and practice on antipsychotics prescribing and physical health monitoring in children and young people: a cohort study using primary care data. BMJ Ment Health;2025 (Jul 8);28(1)

BACKGROUND: Antipsychotic treatments require physical health monitoring (PHM), especially among children and young people (CYP). OBJECTIVE: For CYP aged 5-17, to investigate recorded indications for antipsychotics prescribing and first-treatment durations, and, for psychosis, bipolar disorder, autism spectrum disorder (ASD) and Tourette’s syndrome, recorded levels of PHM for CYP with antipsychotics prescriptions and those without. METHODS: All CYP registered with QResearch English general practices between 2006 and 2021 were considered. To quantify PHM, 2158 CYP with antipsychotics prescriptions and 22 151 CYP with a condition but no prescriptions were followed for 2 years. FINDINGS: 47% (2363) of CYP with antipsychotics prescriptions had a recorded mental health condition of interest (of which 62% were ASD). 19% (921) had no relevant indication. For patients with ASD and Tourette syndrome, top quartiles for initial exposure to antipsychotics were >10 months. Recorded PHM was generally low, with over 50% of CYP showing no blood test during the 2-year follow-up. CONCLUSIONS: Coverage of best practice is uneven across the condition-related national CYP guidelines, and this requires improvement. However, we suspect some apparently poor adherence to best practice also derives from treatment complexities and associated data flows leading to gaps in the encoded general practice data. To audit more exactly clinical practice against guidelines, we propose qualitative studies, targeted to cover the full range of local circumstances, nationally. CLINICAL IMPLICATIONS: General practices should be encouraged to prioritise encoding of all treatment data. Development of one central gold-standard set of recommendations for antipsychotics use could encourage better adherence levels across conditions.

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25. Watanabe T. [Identification and Control of Collective Neural Dynamics in Autism]. Brain Nerve;2025 (Jul);77(7):819-825.

Autism spectrum disorder is characterized by socio-communicative traits and cognitive inflexibility. Here, we present a series of findings indicating that autistic neural rigidity is a key neural mechanism underpinning for both social and non-social symptoms. In addition, we present our recent observation that these core autistic symptoms can be mitigated by alleviating neural rigidity using our unique closed-loop non-invasive neural stimulation system.

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26. Wieckowski AT, de Marchena A, Dickerson AF, Frick E, Perez Liz G, Dubin A, Robins DL. Short report: Autism diagnostic impressions in young children formed by primary care clinicians and through telemedicine expert assessments. Autism;2025 (Jul 8):13623613251355257.

Formal autism diagnosis is often critical for children to access early, autism-specific services and supports. However, barriers to traditional in-person evaluations, including long waitlists, delay diagnosis. The goal of the current study was to compare diagnostic impressions (i.e. clinical judgments) made by primary care clinicians and autism experts conducting brief telehealth sessions, with expert diagnosis from in-person gold-standard evaluations. Participants were toddlers (n = 32, age 12-36 months) referred for any developmental concerns by four primary care clinicians from one pediatric practice in the United States. Primary care clinicians indicated their diagnostic classification and families then completed telehealth evaluations and in-person evaluations with one of five autism diagnostic expert clinicians. When primary care clinicians classified a child as having definite autism (n = 11), they were 100% accurate, but only 57% accurate when they indicated a child definitely did not have autism. Experts providing classification after a telehealth evaluation accurately classified 72% of children and were confident in the diagnosis for 55% of cases. In high-confidence cases, telehealth diagnosis matched final diagnosis 88% of the time. These findings indicate that when primary care clinicians believe a toddler is autistic, or when autism experts indicate autism telehealth classification with confidence, the child should begin receiving autism-specific services and supports right away.Lay abstractThere are long waitlists for autism evaluations, which greatly delay the start of interventions that are known to improve children’s outcomes. We tested the accuracy of primary care clinicians’ impressions of autism versus other developmental delays during well-child visits, and of experts during brief telemedicine visits, and found that more than half of the children were accurately identified through these streamlined methods. These findings support a tiered approach in which children identified through these more efficient methods begin autism intervention immediately; this approach also benefits children with more complex differentials by shortening waitlists for comprehensive evaluations for those who require them prior to treatment entry.

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27. Xu W, Li N, Qi J. Balance Control in Children and Youth with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Alpha Psychiatry;2025 (Jun);26(3):42869.

BACKGROUND: Compared with typically developing (TD) children and youth, those with autism spectrum disorder (ASD) present more balance deficits. However, the understanding of which specific balance areas are affected remains incomplete at present. METHODS: Relevant studies were searched in PubMed, Web of Science Core Collection, Scopus and EBSCO from the establishment of the database to March 17, 2024. Two reviewers independently screened the literature, extracted data and assessed the methodological quality of the included studies. Meta-analysis was performed through Review Manager software, and a narrative description of the results was used if the data could not be pooled for meta-analysis. RESULTS: A total of 16 studies were included, with six being suitable for meta-analysis. The research indicated that individuals with ASD showed poorer balance control compared with TD peers. Specifically, the ASD group faced significant difficulties in sensory orientation and demonstrated deficiencies in verticality and anticipatory postural adjustments. CONCLUSIONS: Children and youth with ASD exhibit impairments in balance control across different domains compared with their TD peers. More research is needed to comprehensively assess the balance control construct in this population, including studies with longitudinal designs in particular. THE PROSPERO REGISTRATION: The protocol of this systematic review was registered with the International Prospective Register of Systematic Reviews (registration no. CRD42024553855; registration date 15 June 2024; https://www.crd.york.ac.uk/PROSPERO/view/CRD42024553855).

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