1. Abder-Rahman H, Al-Abdallat I, Qaqish LN, Elqasass A, Al-Shaeb A, Abuzaid L, Samara YF. Understanding the link between autism and self-harm from a forensic lens. J Forensic Sci;2025 (Mar 17)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication difficulties, restricted interests, and repetitive behaviors. Individuals with ASD, particularly females, are at an increased risk of self-injurious behavior (SIB), which can sometimes be misinterpreted as signs of physical abuse. This case report describes a 17-year-old female with ASD and ADHD and limited verbal language skills who presented to the emergency room with multiple skin lesions resembling second-degree burns, raising concerns of child abuse. Initial assessments by the emergency and dermatology teams were inconclusive, and plastic surgeons suggested the lesions were burns. However, forensic specialists noted inconsistencies with burn patterns, including the absence of blisters and redness around newer lesions. A review of the patient’s psychiatric records revealed a history of repetitive self-harm, specifically aggressive scratching. Additional history from the family confirmed that the injuries were self-inflicted. Distinguishing between self-harming injuries and physical abuse in patients with ASD can be challenging, especially since both can coexist. This necessitates thorough assessment and experienced forensic consultation to avoid misdiagnosis, which can lead to significant legal and emotional consequences. To conclude, accurate diagnosis of self-harm versus abuse in patients with autism requires detailed investigation, consideration of psychiatric history, and forensic expertise. Moreover, early and correct diagnosis is crucial to prevent misattributed allegations of abuse and facilitate appropriate medical and psychiatric care for individuals with ASD.

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2. Alexopoulou A, Pergantis P, Koutsojannis C, Triantafillou V, Drigas A. Non-Invasive BCI-VR Applied Protocols as Intervention Paradigms on School-Aged Subjects with ASD: A Systematic Review. Sensors (Basel);2025 (Feb 22);25(5)

This paper aims to highlight non-invasive BCI-VR applied protocols as intervention paradigms on school-aged subjects with ASD. Computer-based interventions are considered appropriate for users with ASD as concentration on a screen reduces other stimuli from the environment that are likely to be distracting or disruptive. Since there are no social conditions for engagement in such processes and the responses of computing systems do not hold surprises for users, as the outputs are fully controlled, they are ideal for ASD subjects. Children and adolescents with ASD, when supported by BCI interventions through virtual reality applications, especially appear to show significant improvements in core symptoms, such as cognitive and social deficits, regardless of their age or IQ. We examined nine protocols applied from 2016 to 2023, focusing on the BCI paradigms, the procedure, and the outcomes. Our study is non-exhaustive but representative of the state of the art in the field. As concluded by the research, BCI-VR applied protocols have no side effects and are rather easy to handle and maintain, and despite the fact that there are research limitations, they hold promise as a tool for improving social and cognitive skills in school-aged individuals with ASD.

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3. Andrade C. Discordant Sibling Pair Comparisons in Observational Studies: A Research Design Simply Explained. J Clin Psychiatry;2025 (Mar 17);86(2)

When studying how (eg) gestational exposure to antidepressant drugs influences the risk of (eg) autism spectrum disorder (ASD) in offspring, conventional observational studies adjust analyses for available covariates and confounds. In such analyses, a significant association between antidepressant exposure and ASD outcome can never be asserted to be causal because of the possibility of residual confounding arising from confounding by indication (or severity thereof), confounding by genetic risk factors, and confounding by environmental risk factors. Confounding by indication and severity thereof can sometimes be addressed through propensity score matching, but the adjustment can never be perfect. Additionally, adjustment for genetic and environmental risk factors is hard or impossible to do because these are inadequately measured, unmeasured, and/or unknown variables. Sibling comparison studies have recently emerged as an option to address the genetic and environmental risk factors. In such studies, sibs discordant for exposure are compared for risk of outcome (cohort design) or sibs discordant for outcome are compared for odds of exposure (case-control design). The assumption is that sibs share similar genetic and environmental risk factors and so, when sibs are compared, these risk factors cancel out whether they are measured or not, known or unknown. If antidepressant exposure remains significantly associated with ASD in sibling comparisons, a possible conclusion is that antidepressants and not genetic or environmental factors drive the ASD risk. If antidepressant exposure loses significance in the sibling comparisons, it suggests that shared genetic and/or environmental factors, rather than antidepressant exposure, explain the ASD risk. The interpretation, however, is nuanced. Strengths, limitations, and interpretations of sibling comparison studies are explained. To illustrate the usefulness of sibling comparisons, results are presented from a recent study of ASD risk after gestational or early infancy exposure to antibiotics.

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4. Arbili O, Rokach L, Cohen S. Wearable Sensors for Ensuring Sports Safety in Children with Autism Spectrum Disorder: A Comprehensive Review. Sensors (Basel);2025 (Feb 26);25(5)

Children with Autism Spectrum Disorder (ASD) often face unique risks during sports activities due to challenges such as motor coordination difficulties, sensory sensitivities, and communication impairments. This paper provides a comprehensive review of the use of wearable sensor technologies to enhance the safety and participation of children with ASD in sports. Utilizing a systematic approach, we analyze 144 papers identified through advanced search methodology. Our findings reveal that wearable sensors can monitor physiological signals like heart rate variability and electrodermal activity and biomechanical signals such as movement patterns to detect early signs of distress, anxiety, or potential injury. The integration of these technologies into sports settings for children with ASD presents significant potential for improving safety, reducing participation barriers, and enhancing overall well-being. Key findings indicate that while the application of wearable sensors in this context is still emerging, early results are promising. However, challenges remain regarding device usability, data privacy, and the need for further research to validate the effectiveness of these technologies in real-world sports environments. This review highlights the importance of interdisciplinary collaboration among researchers, technology developers, educators, and caregivers to develop and implement wearable sensor solutions that are tailored to the unique needs of children with ASD, thereby promoting safer and more inclusive sports participation.

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5. Berbé L, Machouart M, Luc A, Albuisson E, Strazielle C, Bisson C. High prevalence of periodontal disease and periodontopathogen colonization in adults with autism spectrum disorder: a pilot study. Front Microbiol;2025;16:1552656.

INTRODUCTION: Alteration of the oral microbiome could potentially play a role in the etiology of certain patients with Autism Spectrum Disorder (ASD), similar to the established link between gut microbiota dysbiosis and ASD. Most studies have assessed oral microbiota in children only and few have explored the oral flora composition in adults with ASD. METHODS: In our study, periodontal and dental status was evaluated in 30 adults with ASD using appropriate indices. Oral microbiota samples were collected in crevicular fluid and supra-gingival plaque at inflamed sites in each patient and analyzed using PCR for bacteria and qPCR for protozoa. Demographic data, co-morbidities, medication and oral hygiene habits were also collected. RESULTS: A total of 86.7% of the patients recruited suffering from severe ASD had periodontal disease and 67% had a high level of supra-gingival plaque. Two major periodontopathogens belonging to the red complex, Treponema denticola and Tannerella forsythia, were both detected in the supra-gingival plaque of 86.2% of patients and in the gingival crevicular fluid of 80 and 86.7% of patients, respectively. Certain microorganisms were statistically more frequently detected in patients with digestive disorders and taking certain medications. DISCUSSION: The oral microbiota composition of the adults with ASD showed significant differences compared to neurotypical individuals, particularly in the prevalence of the specific microorganisms P. gingivalis, T. tenax and E. gingivalis ST1. The detection frequency of periodontitis and periodontopathogens may have been underestimated due to the lack of cooperation of the adults with ASD during clinical examination and microbiota sampling. Further studies on larger cohorts are needed to consolidate these results to gain a better understanding of variations in oral microbiota.

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6. Bragg MG, Rando J, Carroll KN, Eick SM, Karagas MR, Lin PI, Schmidt RJ, Lyall K. The association of prenatal dietary factors with child autism diagnosis and autism-related traits using a mixtures approach: Results from the ECHO Cohort. J Nutr;2025 (Mar 17)

BACKGROUND: Previous research on the role of maternal diet in relation to autism has focused on examining individual nutrient associations. Few studies have examined associations with multiple nutrients using mixtures approaches, which may better reflect true exposure scenarios. OBJECTIVE: To examine associations of nutrient mixtures with children’s autism diagnosis and traits scores within a large, diverse population. METHODS: Participants were drawn from the US Environmental influences on Child Health Outcomes (ECHO) consortium. Maternal prenatal diet was reported via validated food frequency questionnaires. Children’s autism-related traits were measured using the Social Responsiveness Scale (SRS) and autism diagnoses were from parent report of physician diagnosis. Bayesian kernel machine regression (BKMR) was used to examine the overall mixture effect and interactions between a set of 5 primary nutrients (folate, vitamin D, omega 3 and omega 6 fatty acids, and iron), adjusted for potential confounders, in relationship to child outcomes. Secondary analyses were conducted in a subset of cohorts with an expanded set of 14 nutrients. Traditional linear and logistic regression models were also run for comparison of results to mixture models. RESULTS: 2,614 participants drawn from 7 ECHO cohorts were included in primary analysis. Mixture analyses suggested that increasing the overall 5-nutrient mixture was associated with lower SRS scores. Individual U-shaped associations and bivariate interactions between folate and omega 3 fatty acids were suggested. In the subset included in the secondary analyses of the 14-nutrient mixture, a modest inverse trend remained, but individual nutrient associations were altered, with vitamin D demonstrating higher relative importance than other nutrients. Strong associations with autism diagnosis were not observed. CONCLUSION: In this large sample, we found evidence for combined nutrient effects with broader autism-related traits. Because results for individual nutrients were sensitive to mixture components, replication of combined associations between nutrients and autism-related outcomes is needed.

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7. Chastain AN, Dixon MR. Development of a Generalized Deictic Framing Repertoire in an Autistic Child. Behav Anal Pract;2025 (Mar);18(1):253-259.

The current study evaluated the effectiveness of relational training on the establishment of three deictic framing repertoires (I/You, Now/Then, Here/There) in an eight-year-old autistic boy using a multiple baseline across behaviors design. Relational training was effective in establishing all three directly trained and mutually entailed deictic relations, while differences were observed in transformation of stimulus function. Results support previous findings with the systematic development of multiple types of perspective taking repertoires with the same participant.

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8. Chaturvedi A, Ramappa S, Anderson A, Banchik M, Shah U, Craske M, Green S. Integrating parent report, observed behavior, and physiological measures to identify biomarkers of sensory over-responsivity in autism. J Neurodev Disord;2025 (Mar 17);17(1):13.

BACKGROUND: Sensory over-responsivity (SOR) is a heightened reaction to environmental stimuli commonly seen in autism spectrum disorder (ASD) which impacts daily functioning. Parent-reported and observed behavioral assessments are used to study SOR, but show limited associations with each other, possibly because they measure different aspects of SOR or because children inhibit their responses during standardized assessments. Physiological measures provide an objective measure of sensory reactivity, and atypical heart rate (HR) responses to aversive stimuli have been shown to be related to SOR in ASD youth. This study aimed to compare how reported and observed measures of SOR predict HR and to examine if the level of reported behavioral inhibition in ASD youth affects how observed SOR behaviors correlate with physiological reactivity. METHODS: Participants were 54 typically developing (TD) and 83 ASD youth, ages 8-17, who completed a standardized behavioral assessment of SOR while electrocardiogram recordings were collected. Participants’ parents also reported on their child’s SOR symptoms and behavioral inhibition. RESULTS: ASD youth showed lower inter-beat-intervals (IBI; higher HR) across all auditory and tactile stimuli. For ASD youth, parent-reported SOR interacted with observed SOR to predict HR changes across the stimulation periods, indicating that ASD participants whose parents reported they had high SOR in their daily life, and showed high observed SOR in the lab assessment, exhibited reduced HR deceleration (orienting) after the onset of the stimulus and subsequent increased HR acceleration. Finally, we found that ASD participants who had lower parent-reported behavioral inhibition had a stronger correlation between observed SOR behavior and atypical HR responses. CONCLUSIONS: Results support prior findings that increased HR responses to aversive stimuli is related to both ASD and SOR. Furthermore, observed and parent-reported SOR interacted to predict HR, suggesting that a multi-method approach may best capture the extent of SOR for an individual. However, observed SOR measures may be most accurate for ASD youth who are less likely to inhibit their behavioral responses. This study illustrates the importance of integrating multiple measures of sensory reactivity to identify SOR. HR measures of sensory reactivity have the potential to serve as a biomarker of SOR across a diverse range of individuals.

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9. Chetcuti L, Hardan AY, Spackman E, Loth E, McPartland JC, Frazier TW, Youngstrom EA, Uljarevic M. Parsing the heterogeneity of social motivation in autism. J Child Psychol Psychiatry;2025 (Mar 16)

BACKGROUND: Social motivation is posited as a key factor in the expression of the autism phenotype. However, lack of precision in both conceptualization and measurement has impeded a thorough understanding of its diverse presentation and associated outcomes. This study addresses this gap by identifying subgroups of autism characterized by deficits in distinct facets of social motivation, relative to normative benchmarks. METHODS: Data were from 509 participants with autism, aged 5-to-21 years (M = 10.43, SD = 3.67; 81% male), enrolled in the Healthy Brain Network. Latent profile analysis was employed to identify subgroups characterized by unique configurations of reticence, seeking, and maintaining facets of social motivation, derived from a comprehensive multi-instrument factor analysis of symptom and screening measures. Pearson’s chi-square tests and one-way analysis of variance were performed to explore subgroup differences in demographic characteristics, cognitive abilities, co-occurring psychopathologies, and other aspects of social functioning. RESULTS: Four distinct subgroups were identified: Engaged (n = 247), exhibiting the fewest challenges across each area; Inhibited (n = 143), characterized by high reticence, mild challenges in seeking, and few challenges in maintaining; Aloof (n = 68), characterized by challenges with seeking and maintaining but relatively low reticence; and Avoidant (n = 52), characterized by the highest challenges across all areas. Subgroups did not differ in terms of chronological age or sex. The Engaged subgroup exhibited the fewest challenges in other aspects of social functioning and co-occurring psychopathologies, while the Avoidant subgroup exhibited the greatest challenges, and with the Inhibited and Aloof profiles falling in between. CONCLUSIONS: This study highlights the heterogeneous nature of deficits in social motivation in autism relative to normative benchmarks, suggesting potential avenues for tailored interventions aimed at addressing the specific challenges experienced by individuals within each subgroup. Nevertheless, there remains a need to develop more refined measurement tools capable of capturing even finer-grained aspects and diverse expressions of social motivation, facilitating further characterization of individual differences across diagnostic boundaries.

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10. Chin YC, Luna O, Witts BN. A Preliminary Investigation of Long-Term Maintenance of a Parent-Implemented Physical Activity Intervention for Adolescents Diagnosed with ASD. Behav Anal Pract;2025 (Mar);18(1):196-205.

Many adolescents, particularly those diagnosed with autism spectrum disorders (ASD), fail to get ≥ 60 min/day of moderate- to vigorous-intensity physical activity (MVPA), in line with the World Health Organization’s guidelines. Whole-day interventions (i.e., interventions implemented throughout the day) can increase physical activity (PA) levels throughout the day to meet these guidelines. However, there are no known behavior-analytic studies examining the effectiveness of whole-day interventions for increasing PA levels in adolescents diagnosed with ASD in both the short- and long-term. Two adolescent boys diagnosed with ASD and their mother tested the effectiveness of a parent-implemented multicomponent intervention package comprising progressive goal setting, feedback, reinforcement, and self-monitoring to increase whole-day step count. The participants increased their daily step counts to 14,000 steps (which translates to ≥ 60 min/day of MVPA) by the conclusion of the intervention, thus meeting or exceeding PA guidelines. The family then adjusted the procedure to better meet their lifestyle needs, resulting in long-term maintenance of PA above baseline levels at 6- and 11-months post-intervention for one participant, and 11-months post-intervention for the other participant. This study therefore shows the importance of tracking long-term changes in outcomes and understanding factors influencing the sustainability of these outcomes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-024-00970-w.

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11. Choi H, Seomun G, Son SM. Moderating role of informational support in the relationship between credible authority and parental uncertainty in developmental disabilities: a preliminary study. Disabil Rehabil;2025 (Mar 1):1-13.

PURPOSE: This study aims to explore the moderating role of informational support in the relationship between credible authority, representing expert information, and parental uncertainty. MATERIALS AND METHODS: Data were collected from 111 parents of children under 18 with developmental disabilities or delays via an online survey. A social network analysis was conducted to construct a professional information network based on professional information sources and satisfaction levels, with eigenvector centrality representing credible authority. To validate the moderation effect of informational support between credible authority and parental uncertainty, this study employed the PROCESS macro v.4.2 model 1, the pick-a-point approach and the Johnson-Neyman technique. RESULTS: Participants were predominantly females aged 29-39, with children aged 3-6 diagnosed with autism spectrum disorder. The findings revealed a significant interaction between credible authority and informational support, with stronger association at low levels of informational support (Mean – 1 × SD, effect = -271.147). The Johnson-Neyman technique revealed that the conditional effect of credible authority on reducing current parental uncertainty becomes statistically significant when informational support falls below 5.854. CONCLUSIONS: Findings suggest that expert-informed interventions may be most effective in reducing uncertainty for parents with low informational support, particularly during the initial diagnosis of developmental disabilities. The chronic nature of developmental disabilities requires parents to endure lifelong uncertainty about their child’s condition, with informational support serving as a vital resource to help them navigate this uncertainty.This study demonstrates that expert informational support is most effective in reducing parental uncertainty when informational support from acquaintances is lacking.Differentiated expert informational strategies are needed to reduce uncertainty depending on the level of informational support parents receive from acquaintances.An expert network analysis identified developmental center therapists as the most trusted providers after diagnosis, underscoring their role in reducing parental uncertainty. eng

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12. De Introna M, Krashia P, Sabetta A, La Barbera L, Nobili A, D’Amelio M, Cecconi F, Ammassari-Teule M, Pignataro A. Chemogenetic induction of CA1 hyperexcitability triggers indistinguishable autistic traits in asymptomatic mice differing in Ambra1 expression and sex. Transl Psychiatry;2025 (Mar 17);15(1):82.

Among the genomic alterations identified as risk factors in mice models of autism spectrum disorders (ASD), heterozygous deletion of Ambra1 (Activating Molecule in Beclin1-Regulated Autophagy) triggers an ASD phenotype associated with hippocampal hyperexcitability exclusively in the female sex although Ambra1 protein is comparably expressed in the hippocampus of symptomatic females and asymptomatic males. Given the intricate relationship between Ambra1 deficiency and sex in the etiology of ASD, we took advantage of asymptomatic mice including Ambra1(+/-) males and wild-type (Wt) mice of both sexes to investigate whether their non-pathogenic variations in Ambra1 levels could underlie a differential susceptibility to exhibit ASD-like traits in response to experimental elevation of hippocampal excitability. Here we report that selective activation of inhibitory DREADD in CA1 parvalbumin-positive interneurons (PV-IN) reduces GABAergic currents onto pyramidal neurons (PN), causes social and attentional deficits, and augments the proportion of immature/thin spines in CA1 PN dendrites to the same extent in Ambra1(+/-) males and Wt mice of both sexes. Our findings show that the substantial hippocampal variations in pro-autophagic Ambra1 gene product shown by asymptomatic mice differing in mutation and/or sex do not underlie a differential reactivity to chemogenetic induction of idiopathic ASD.

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13. Dong Y, Batalle D, Deprez M. A Framework for Comparison and Interpretation of Machine Learning Classifiers to Predict Autism on the ABIDE Dataset. Hum Brain Mapp;2025 (Apr 1);46(5):e70190.

Autism is a neurodevelopmental condition affecting ~1% of the population. Recently, machine learning models have been trained to classify participants with autism using their neuroimaging features, though the performance of these models varies in the literature. Differences in experimental setup hamper the direct comparison of different machine-learning approaches. In this paper, five of the most widely used and best-performing machine learning models in the field were trained to classify participants with autism and typically developing (TD) participants, using functional connectivity matrices, structural volumetric measures, and phenotypic information from the Autism Brain Imaging Data Exchange (ABIDE) dataset. Their performance was compared under the same evaluation standard. The models implemented included: graph convolutional networks (GCN), edge-variational graph convolutional networks (EV-GCN), fully connected networks (FCN), autoencoder followed by a fully connected network (AE-FCN) and support vector machine (SVM). Our results show that all models performed similarly, achieving a classification accuracy around 70%. Our results suggest that different inclusion criteria, data modalities, and evaluation pipelines rather than different machine learning models may explain variations in accuracy in the published literature. The highest accuracy in our framework was obtained when using ensemble models (p < 0.001), leading to an accuracy of 72.2% and AUC = 0.77 using GCN classifiers. However, an SVM classifier performed with an accuracy of 70.1% and AUC = 0.77, just marginally below GCN, and significant differences were not found when comparing different algorithms under the same testing conditions (p > 0.05). Furthermore, we also investigated the stability of features identified by the different machine learning models using the SmoothGrad interpretation method. The FCN model demonstrated the highest stability in selecting relevant features contributing to model decision making. The code is available at https://github.com/YilanDong19/Machine-learning-with-ABIDE.

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14. Forrest MP, Piguel NH, Bagchi VA, Dionisio LE, Yoon S, Dos Santos M, LeDoux MS, Penzes P. Impairment of homeostatic structural plasticity caused by the autism and schizophrenia-associated 16p11.2 duplication. bioRxiv;2025 (Mar 6)

Homeostatic plasticity is essential for information processing and the stability of neuronal circuits, however its relevance to neuropsychiatric disorders remains unclear. The 16p11.2 duplication (BP4-BP5) is a genetic risk factor that strongly predisposes to a range of severe mental illnesses including autism, schizophrenia, intellectual disability, and epilepsy. The duplication consists of a 600 kb region on chromosome 16, including 27 protein-coding genes, with poorly defined effects on neuronal structure and function. Here, we used a mouse model of the 16p11.2 duplication to investigate the impact of this variant on synaptic structure and downstream homeostatic plasticity. We find that 16p11.2 duplication neurons exhibit overly branched dendritic arbors and excessive spine numbers, which host an overabundance of surface AMPA receptor subunit GluA1. Using a homeostatic plasticity paradigm, we show that 16p11.2 duplication neurons fail to undergo synaptic upscaling upon activity deprivation, consistent with disrupted structural plasticity. We also observe that the increased surface abundance of GluA1 occludes further insertion events, a critical mechanism for synaptic plasticity. Finally, we show that genetically correcting the dosage of 16p11.2-encoded Prrt2 to wild-type levels rescues structural spine phenotypes. Our work suggests that aberrant plasticity could contribute to the etiology of neuropsychiatric disorders.

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15. Gayle RI, Valentino AL, Fuhrman AM. Virtual Reality Training of Safety and Social Communication Skills in Children with Autism: An Examination of Acceptability, Usability, and Generalization. Behav Anal Pract;2025 (Mar);18(1):179-195.

Individuals with autism spectrum disorder (ASD) can struggle to acquire social, communication, and safety skills. Many of these skills can be targeted in individualized behavior analytic instruction. However, some skills can be challenging to teach given the difficulties associated with reconstructing a real-world scenario within a learning session. Virtual reality (VR) has emerged as a promising technology that can help people with ASD practice these types of skills in an immersive environment. VR is an emerging technology, and more research is needed to determine its efficacy as well as its impact on variables such as client indices of happiness and social validity. In this study, we successfully taught three children with ASD three different skills using a VR treatment package that consisted of VR, prompts, and reinforcement. Prior to teaching these skills, we included a cooperation phase with the intent to increase acceptance of VR equipment as needed. We found that each of the three participants accepted the equipment and VR sessions without the need for additional training. In all cases, the skills the participants acquired in the VR platform were maintained and generalized to the natural environment. Participants demonstrated indices of happiness when engaged with the VR software and parents and clinical staff ranked the VR software positively. Results are discussed in terms of the use of the VR treatment package in intervention and future research for similar technologies.

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16. Hoferle M, Roepke E. Latine Caregivers’ Perspectives of Autism-Related Services: A Scoping Review. Am J Speech Lang Pathol;2025 (Mar 17):1-23.

PURPOSE: Minoritized cultural groups in the United States experience disparities in diagnostic and intervention services for autistic children. Listening to the experiences of minoritized caregivers when accessing these services can identify areas for structural and individual improvement in cultural responsiveness. METHOD: We conducted a scoping review to map the experiences of Latine caregivers of autistic children in navigating autism-related services. Included studies were published between 2015 and 2024 and employed a qualitative design. RESULTS: Twenty-six studies were included in the review. The caregivers interviewed in these studies were primarily mothers; few studies included fathers or extended family members. Services reviewed included both assessment and intervention. Factors related to assessment and intervention uptake included communication, provider support, logistics, immigration, cultural beliefs, caregivers’ knowledge about autism, and social systems. CONCLUSIONS: Public education on the signs of autism and how to access services may address some of the barriers identified by caregivers in this review. Clinicians can provide education and support to empower caregivers to advocate for their children.

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17. Huo C, Meng C, Qian H, Li W, Shao M, Huang Y, Meng J. Altered processing of consecutive changeable emotional voices in individuals with autistic traits: behavioral and ERP studies. BMC Psychol;2025 (Mar 17);13(1):261.

BACKGROUND: Similar to individuals with autism spectrum disorder (ASD), individuals with autistic traits are expected to exhibit alterations in emotion recognition. However, many previous studies using single emotional stimuli did not observe these alterations in such individuals. Given that consecutive changeable emotional stimuli are more common in social interactions than single emotional stimuli, impaired mental processing of consecutive changeable emotions may be a key factor underlying the social interaction challenges faced by these individuals. METHODS: The present research aimed to investigate the behavioral and neural responses to consecutive changeable emotional voices in individuals with autistic traits through two studies (Study 1 and Study 2). Based on the autism-spectrum quotient (AQ) scores, participants were categorized into two groups: the High-AQ and the Low-AQ groups. In Study 1, both groups were asked to judge a single emotional voice (positive, negative, or neutral; S1) presented in each trial in Task 1, or the last presented emotional voice (S3) in a triplet of stimuli (S1-S2-S3, trains of three consecutive changeable emotional voices) in Task 2. In Study 2, both groups were instructed to passively listen to the stimulus triplet (S1-S2-S3), and event-related potential (ERP) technology was used to investigate their neural responses to each stimulus. RESULTS: No significant group difference was found in response to S1 voices in either Study 1 or Study 2. However, the High-AQ group elicited higher arousal levels (Study 1) and larger P2 amplitudes (Study 2) in response to S3 emotional voices (positive and negative) compared to the Low-AQ group. CONCLUSION: These findings reveal that individuals with autistic traits may exhibit alterations in their processing of consecutive changeable emotions in the auditory modality.

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18. Karin E, Geva R, Bar-Yehuda S, Estrugo Y, Bauminger-Zviely N. Correction to: Movement Coordination’s Link with Common Ground During DyadicPeer Discourse in Typically Developing and Autistic Speakers. J Autism Dev Disord;2025 (Mar 17)

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19. Kevelson SD. The Curious Case of Therapist Self-Disclosure During Pharmacotherapy Visits in an Autism Center. J Child Adolesc Psychopharmacol;2025 (Mar 17)

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20. Liden TA, Rosales-Ruiz J. Constructional Parent Coaching: A Collaborative Approach to Improve the Lives of Parents of Children with Autism. Behav Anal Pract;2025 (Mar);18(1):109-126.

Parents of children diagnosed with autism face enormous stressors, which may interfere with achieving personal and family goals. The typical approach for reducing stress is often pathological; the individual attempts to directly eliminate the stress through counseling, behavioral therapy, or medication. As an alternative, the constructional approach builds repertoires for accessing important reinforcers. In this study, a mentoring program based on the constructional approach was used to teach three parents of children diagnosed with autism how to analyze their lives, formulate goals, and implement programs to reach these goals. A mentor’s support was gradually reduced until each participant could implement these steps independently. After the implementation of this program, events that each participant wanted to keep as part of their life encompassed a larger proportion of their total weekly events, as compared to before the program. In addition, time spent working on chosen goals increased as each goal was targeted for intervention. This mentoring program offers a promising approach for teaching people to manage their own lives by cultivating skills that help them get what they want, without dwelling on the problems interfering with their happiness. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-024-00944-y.

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21. Luiselli JK, Bird FL, Harper JM, Ruane J, Weiss MJ. Trauma-Informed Care (TIC) of Persons with Intellectual and Developmental Disabilities: A Pilot Survey of Board Certified Behavior Analysts at a Human Services Organization. Behav Anal Pract;2025 (Mar);18(1):234-243.

We conducted an online survey of board certified behavior analysts (n = 67) at a human services organization to assess their attitudes and opinions about trauma-informed care (TIC) of persons with intellectual and developmental disabilities (IDD) and compatibility with behavior analytic practice. Survey respondents indicated they had no to minimal college level/graduate school coursework, training, supervision, and implementation experience in TIC. They largely agreed that TIC should be considered for persons with IDD, provides knowledge that can improve behavior analytic services, should be emphasized in training, and is within the scope of behavior analyst practice. However, there was strong agreement that TIC is not defined or practiced consistently and is not well-researched by behavior analysts. We discuss the implications of these findings and present survey informed recommendations for advancing TIC within the behavior analytic professional community.

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22. Mears K, Rai D, Shah P, Ashwin C. Obsessional thinking and autistic traits are each uniquely associated with greater traits of gender dysphoria in clinical and nonclinical adult samples. Mol Autism;2025 (Mar 17);16(1):20.

BACKGROUND: Research has demonstrated a strong relationship between autism and gender dysphoria (GD) and that this relationship could be explained by obsessional interests which are characteristic of autism. However, these studies often measured obsessions using either single items which questions the reliability of the findings, or within autistic trait measures meaning the findings may simply index a more general relationship between autistic traits and GD. Therefore, the present study aimed to investigate the relationships between obsessional thoughts and traits of GD using a measure of obsessional thoughts alongside a measure of autistic traits, which was investigated in both non-clinical and clinical samples. METHODS: A total of 145 non-clinical participants took part in Study 1 and all completed the Autism-Spectrum Quotient (AQ) as a measure of autistic traits, the Obsessive-Compulsive Inventory-Revised (OCI-R) obsessional thoughts subscale as a measure of obsessional thoughts, and the Gender-Identity/Gender-Dysphoria Questionnaire (GIDYQ) to measure traits of GD. For Study 2, a total of 226 participants took part in Study 2 and all completed the same measures as in Study 1. They included participants diagnosed with GD (N = 49), autism (N = 65), OCD (N = 46) and controls with no diagnosis (N = 66). RESULTS: The hierarchical linear regression for Study 1 showed that both total AQ and OCI-R obsessional thoughts scores were uniquely associated with GIDYQ scores, with no interaction effect between the scores. The results for Study 2, from a hierarchical linear regression, once again found that obsessional thoughts and autistic traits were each uniquely associated with GIDYQ scores, but not their interaction. The GD and autistic groups both reported significantly greater traits of GD than the OCD and control groups, with the GD group reporting higher scores than the autistic group. LIMITATIONS: Participants self-reported their diagnoses for Study 2, but diagnostic tests to verify these were not administered. Traits of GD were also measured at a single point in time, despite such traits being transient and continuous. CONCLUSIONS: The results show both obsessional thoughts and autistic traits are uniquely associated with GD, and that autistic people experience greater traits of GD than other clinical groups.

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23. Møllehave LT, Grand MK, Kriegbaum M, Andersen CL, Lind BS, van Vliet NA, van Heemst D, Strandberg-Larsen K. Maternal Thyroid Function in Early Pregnancy and Offspring School Performance and Neurodevelopmental Disorders. J Clin Endocrinol Metab;2025 (Mar 17);110(4):e1000-e1008.

CONTEXT: Thyroid hormones are critical for neural development, and during the first trimester of pregnancy, the fetus relies fully on maternal thyroid hormone production. OBJECTIVE: To investigate the associations between maternal thyroid hormone levels in the first trimester with the child’s school performance, risk of attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). METHODS: Information from the Copenhagen Primary Care Laboratory Pregnancy Database on first trimester TSH and free thyroxine measurements in mothers of children born in 2000 through 2014 were linked with information on the child’s standardized test scores in school, ADHD (patient record diagnoses and medication), and ASD (patient record diagnoses) until the end of 2018. Associations of TSH and free thyroxine with the outcomes were individually assessed by linear mixed models and Cox regression models. The analyses were stratified by preexisting maternal thyroid disorders. RESULTS: TSH measurements were available for 17 909 mother-child dyads. Among those with children born in 2000 through 2009, 6126 had a standardized school test score and were analyzed for the association between maternal thyroid hormone levels and child’s school performance, and no support for an association was found. The association between thyroid hormone levels and child’s risk of ADHD and ASD were analyzed for the 17 909 dyads and with no support for an association between thyroid hormone levels and these neurodevelopmental disorders. Stratification by preexisting maternal thyroid disorders did not affect the results. CONCLUSION: We found no evidence for associations between first trimester maternal thyroid hormone levels and child’s school performance, or risk of ADHD or ASD.

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24. O’Neill P, Koudys J. Scoping Review: Caregiver Training to Reduce Challenging Behaviors Displayed by Children on the Autism Spectrum. Behav Anal Pract;2025 (Mar);18(1):56-73.

Effective intervention for children on the autism spectrum who engage in challenging behavior is critical. To ensure meaningful behavior change, caregiver training to support intervention implementation in the natural environment is often required. It is fortunate that both behavioral interventions and caregiver training are considered evidence-based for the reduction of challenging behavior. However, behavioral interventions may be comprised of an idiosyncratic combination of behavior-change strategies that require caregivers to accurately implement several strategies simultaneously or sequentially. The complexity of these interventions may affect parents’ ability to implement interventions accurately and consistently in the natural environment, which may in turn affect child outcomes. However, no review has synthesized the evidence from single-case design studies that evaluate the effects of caregiver training on a variety of caregiver-mediated interventions for autistic children who engage in challenging behavior. Given the complexity of caregiver training and caregiver-mediated interventions, and their increasing popularity, a greater understanding of the related evidence is warranted. We identified trends in participant demographics, caregiver training approaches implemented, child challenging behavior addressed, and behavioral intervention approaches employed. We propose recommendations for interpreting and applying results in practice, and avenues for future research directions.

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25. Pagani M, Zerbi V, Gini S, Alvino F, Banerjee A, Barberis A, Basson MA, Bozzi Y, Galbusera A, Ellegood J, Fagiolini M, Lerch J, Matteoli M, Montani C, Pozzi D, Provenzano G, Scattoni ML, Wenderoth N, Xu T, Lombardo M, Milham MP, Martino AD, Gozzi A. Biological subtyping of autism via cross-species fMRI. bioRxiv;2025 (Mar 5)

It is frequently assumed that the phenotypic heterogeneity in autism spectrum disorder reflects underlying pathobiological variation. However, direct evidence in support of this hypothesis is lacking. Here, we leverage cross-species functional neuroimaging to examine whether variability in brain functional connectivity reflects distinct biological mechanisms. We find that fMRI connectivity alterations in 20 distinct mouse models of autism (n=549 individual mice) can be clustered into two prominent hypo- and hyperconnectivity subtypes. We show that these connectivity profiles are linked to distinct signaling pathways, with hypoconnectivity being associated with synaptic dysfunction, and hyperconnectivity reflecting transcriptional and immune-related alterations. Extending these findings to humans, we identify analogous hypo- and hyperconnectivity subtypes in a large, multicenter resting state fMRI dataset of n=940 autistic and n=1036 neurotypical individuals. Remarkably, hypo- and hyperconnectivity autism subtypes are replicable across independent cohorts (accounting for 25.1% of all autism data), exhibit distinct functional network architecture, are behaviorally dissociable, and recapitulate synaptic and immune mechanisms identified in corresponding mouse subtypes. Our cross-species investigation, thus, decodes the heterogeneity of fMRI connectivity in autism into distinct pathway-specific etiologies, offering a new empirical framework for targeted subtyping of autism.

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26. Page SD, Clark L, Souders MC, Pinto-Martin JA, Deatrick JA. Family management of common sleep disturbances among children with autism: Implications for pediatric nursing research and practice. J Pediatr Nurs;2025 (Mar 15);82:160-169.

BACKGROUND: Sleep disturbances are common among children with autism spectrum disorder (ASD) and can negatively impact the health and wellbeing of the child, caregiver, and family. Nurses are well-positioned to support families of children with ASD to improve sleep. DESIGN & PURPOSE: In this mixed methods study, we leveraged an existing dataset to 1) characterize qualitative descriptions of sleep disturbances experienced by children (4-10y) with ASD, 2) examine the convergence of qualitative descriptions of sleep disturbances with quantitative scores on the Children’s Sleep Habits Questionnaire (CSHQ), and 3) explore strategies used to manage bedtime and sleep disturbances. RESULTS: In this sample (n = 30), 70 % of caregivers described that their child had one or more sleep disturbances, with night wakings (43.3 %), bedtime resistance (30 %), and sleep anxiety (30 %) being most common. Qualitative descriptions largely converged with the CSHQ scores; however, in 20 % of cases, the caregiver reported no concerns about sleep while the CSHQ score indicated a clinically significant sleep problem. Management of bedtime and sleep disturbances required significant effort and balancing of multiple domains, including the child’s sleep needs, the sleep needs of the caregiver and other family members, the child’s sleep environment preferences and daytime activities that promote or disrupt sleep. CONCLUSION & IMPLICATIONS TO PRACTICE: Sleep disturbances are prevalent, despite efforts to implement bedtime routines and manage sleep disturbances. Pediatric nurses play an integral role in screening for sleep disturbances, educating families, and providing guidance for implementing behavioral and environmental interventions. Implications for clinical practice and future research are discussed.

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27. Parkhill M, Salmaso N, D’Angiulli A, Lee V, Aguilar-Valles A. Emerging autism and Fragile X syndrome treatments. Trends Pharmacol Sci;2025 (Mar 17)

The limitations of current symptom-focused treatments drive the urgent need for effective therapies for autism and Fragile X syndrome (FXS). Currently, no approved pharmacological interventions target the core symptoms of these disorders. Advances in understanding the underlying biology of autism and FXS make this an important time to explore novel options. Indeed, several treatments have recently been tested in clinical trials, with promising results in treating core symptoms of autism and FXS. We focus on emerging interventions, such as gut microbiome therapies, anti-inflammatory approaches, bumetanide, phosphodiesterase 4D inhibitors, and endocannabinoid modulators. We also discuss factors, such as disorder heterogeneity, which may have contributed to poor efficacy in previously failed late-phase trials and impact recent trials, emphasizing the need for personalized treatment approaches.

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28. Ranjan R, Sinha M, Ahmad S, Kumar P, Deshpande SN, Bipeta R. Study Protocol for Development and Validation of an Indian Instrument for Severity of Sensory Reactivity in Children with Autism Spectrum Disorder. Indian J Psychol Med;2025 (Mar 17):02537176251323595.

BACKGROUND: Children with autism spectrum disorder (ASD) exhibit atypical responses to sensory stimuli. These sensory and perceptual issues persist as hyper-, hypo-, or atypical sensory reactivity that impacts their daily activities. The present protocol describes a method for developing a locally relevant and simple instrument for identifying and estimating the severity of sensory reactivity in children with ASD. NOVELTY: Employing a consultative approach, the authors aim to develop and validate an Indian instrument to assess sensory reactivity in children with ASD. OBJECTIVES: To gather insights from parents and experts about sensory reactivity patterns in children with ASD and to use this information to create and validate a culturally relevant tool for measuring the severity of sensory reactivity in these children. METHODS: This study will be conducted in two phases following an exploratory sequential mixed-method design. In the first phase, data will be collected through in-depth interviews of parents of children with ASD and focused group discussions with the experts. The collected data will be used to identify different themes and domains related to sensory reactivity. A questionnaire will be developed based on their inputs. In the second phase, the instrument will be analyzed further using exploratory factor analysis to obtain the factor structure and confirmatory factor analysis to test the factor structure of the developed instrument. EXPECTED OUTCOME: A simple, reliable, and validated severity instrument will be developed for children with ASD and made accessible to all for convenient use.

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29. Regnier SD, Mullis LC, Nugent A, Marcum T, Turner M, Schulz JA, Lile J, Shellenberg T, Stoops WW. Adapting a Functional Assessment of Cigarette Smoking for People with Intellectual and Developmental Disabilities. Behav Anal Pract;2025 (Mar);18(1):137-149.

There is a concerning lack of published smoking cessation research on people with intellectual and developmental disabilities (IDD). A Functional Assessment for Smoking Treatment Recommendations (FASTR) was recently developed to help personalize patients’ tobacco treatment. Adapting this tool to effectively identify putative environmental variables that maintain smoking for people with IDD is predicted to improve current treatments. The purpose of this study was to pilot the FASTR with people with IDD to understand modifications necessary to implement it in this population. During 1-hour interviews participants (n = 8) described the extent they agreed with each FASTR statement using a Likert scale, corresponding to one of five potential functions of smoking (i.e., Automatic Positive, Automatic Negative, Social Positive, Social Negative, and Antecedent). Participants gave input on potential modifications to make the assessment more inclusive for people with IDD. A quantitative approach was used to pilot the FASTR and participant narratives were used to understand difficulties and potential modifications. For each participant a function was endorsed if the average response to questions corresponding to that function was greater than 3 (neutral) or over 50% « yes » responses. The two most frequently endorsed functions were Automatic Negative (87.5% participants) and Social Negative (75% of participants). Participants recommended making the focus of each statement larger and in bold so respondents can understand the most important part of the statement. The FASTR was modified based on their feedback and will be distributed to a larger sample of people with IDD for further validation.

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30. Semino M, Riccio E, Giannatiempo S, Cavallini F, Vascelli L. Evaluating a Treatment Package to Reduce Toe Walking and Improve Ankle Mobility in Children with Autism Spectrum Disorder: A Multi-Component Intervention. Behav Anal Pract;2025 (Mar);18(1):206-220.

This study evaluates the effects of a treatment package to reduce toe-walking (TW) in four male children with autism spectrum disorder, aged between three and six years, with persistent TW. The treatment package involved a combination of motor exercises, positive reinforcement, corrective feedback, and precision teaching. We used concurrent multiple probes across participants design, with RESA checks, to evaluate the effectiveness of the intervention. We measured the correct steps during probe sessions, the rate per minute of correct steps during the training, the ankle joint’s passive range of motion, and social validity, measured through caregiver questionnaires before and after the intervention. The results indicated a decrease in TW across all participants, with a beneficial effect on the participants’ gait patterns and overall physical mobility. It also underscored the potential for applying such an intervention to improve the daily lives of children with ASD. However, the study has several limitations, including not directly measuring generalization, the brief follow-up period post-intervention, and the absence of a component analysis to determine the differential effects of the intervention components. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-024-01035-8.

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31. Sheen H, Vause T, Neil N, Anderson BM, Feldman MA. Functional Analysis and Treatment of Hoarding in a Child with Autism Spectrum Disorder. Behav Anal Pract;2025 (Mar);18(1):168-178.

Excessive collecting is frequently reported in children with autism spectrum disorder, but few studies have used behavior analytic interventions based on functional analysis to treat it. In the current study, functional analysis results informed the creation of a multicomponent treatment package involving parent training for a 12-year-old girl with autism spectrum disorder who engaged in interfering hoarding that was significantly limiting quality of life for both her and her family. Based on the results of the functional analysis, which suggested automatic and potential attention functions, we evaluated differential reinforcement, rules, and acceptability criteria across the two hoarding topographies. Using a multiple baseline across behaviors design, results showed that the multicomponent treatment package successfully reduced hoarding. Social validity measures indicated a reduction in symptom severity, improvements in family quality of life, and high consumer satisfaction. In addition, outcomes were maintained over 2 months. This study shows the utility of functional analysis-based treatments for hoarding in children with autism spectrum disorder.

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32. Shi Q, Ren B, Lu X, Zhang L, Wu L, Hu L, Zhang YQ. Neural mechanisms underlying reduced nocifensive sensitivity in autism-associated Shank3 mutant dogs. Mol Psychiatry;2025 (Mar 17)

Autistic individuals carrying mutations in SHANK3 (encoding a synaptic scaffolding protein) have been consistently reported to exhibit reduced pain sensitivity. However, the neural mechanisms underlying impaired pain processing remain unclear. To investigate the role of SHANK3 in pain processing, we conducted behavioral, electrophysiological, and pharmacological tests upon nociceptive stimulation in a Shank3 mutant dog model. Behaviorally, Shank3 mutant dogs showed reduced nocifensive sensitivity compared to wild-type (WT) dogs. Electrophysiologically, Shank3 mutant dogs exhibited reduced neural responses elicited by the activations of both Aδ- and C-fiber nociceptors. Additionally, Shank3 mutants showed a lower level of aperiodic exponents, which serve as a marker for the excitatory-inhibitory balance of neural activity. The aperiodic exponents mediated the relationship between genotype and nocifensive sensitivity as well as between genotype and neural responses elicited by nociceptive stimuli. Pharmacologically, the reduced nocifensive sensitivity and atypical excitatory-inhibitory balance were rescued by a GABA(A)R antagonist pentylenetetrazole. These findings highlight the critical role of Shank3 in pain processing and suggest that an impaired excitatory-inhibitory balance may be responsible for the reduced nocifensive reactivity in autism.

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33. Solek P, Nurfitri E, Sahril I, Prasetya T, Rizqiamuti AF, Burhan B, Rachmawati I, Gamayani U, Rusmil K, Chandra LA, Afriandi I, Gunawan K. The Role of Artificial Intelligence for Early Diagnostic Tools of Autism Spectrum Disorder: A Systematic Review. Turk Arch Pediatr;2025 (Mar 3);60(2):126-140.

Objective: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. This systematic review examines the application of artificial intelligence (AI) in diagnosing ASD, focusing on pediatric populations aged 0-18 years. Materials and methods: A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Inclusion criteria encompassed studies applying AI techniques for ASD diagnosis, primarily evaluated using metriclike accuracy. Non-English articles and studies not focusing on diagnostic applications were excluded. The literature search covered PubMed, ScienceDirect, CENTRAL, ProQuest, Web of Science, and Google Scholar up to November 9, 2024. Bias assessment was performed using the Joanna Briggs Institute checklist for critical appraisal. Results: The review included 25 studies. These studies explored AI-driven approaches that demonstrated high accuracy in classifying ASD using various data modalities, including visual (facial, home videos, eye-tracking), motor function, behavioral, microbiome, genetic, and neuroimaging data. Key findings highlight the efficacy of AI in analyzing complex datasets, identifying subtle ASD markers, and potentially enabling earlier intervention. The studies showed improved diagnostic accuracy, reduced assessment time, and enhanced predictive capabilities. Conclusion: The integration of AI technologies in ASD diagnosis presents a promising frontier for enhancing diagnostic accuracy, efficiency, and early detection. While these tools can increase accessibility to ASD screening in underserved areas, challenges related to data quality, privacy, ethics, and clinical integration remain. Future research should focus on applying diverse AI techniques to large populations for comparative analysis to develop more robust diagnostic models.

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34. Souto DO, Nascimento A, Cruz TKF, de Lima AFB, Oliveira GS, Fernandes ACS, Haase VG. Assessment of the Global Integration Method on the parents’ perception of functional goals in children and adolescents with autism. Dement Neuropsychol;2025;19:e20240154.

Children with autism spectrum disorder (ASD) may experience impairments across all domains of the International Classification of Functioning, Disability, and Health. However, there is a scarcity of programs that integrate interventions encompassing all these domains. OBJECTIVE: To investigate parents’ perception of performance and satisfaction with functional goals for children with ASD after intervention with the Global Integration. METHODS: This single-group quasi-experimental study involved a total of 98 participants aged 1.8 to 18.2 years who underwent a 3-month intervention, five times a week, for 3-4 h per day. The intervention involved functional task training in an environment inspired by the natural environment associated with the use of a flexible therapeutic suit. The primary outcome measure was the Canadian Occupational Performance Measure, administered before and after the intervention. RESULTS: Ninety-five participants completed the study. Approximately 60% of participants showed improvements in performance and satisfaction that ranged from 1 to 9 points on the Canadian Occupational Performance Measure. The Global Integration Method program resulted in significant improvements in goal performance (p<0.001, d=0.80) and satisfaction (p<0.001, d=0.67). Most parents (81%) believed that the Global Integration Method incorporated aspects of family-professional collaboration and were satisfied (93%) with the intervention. CONCLUSION: In the perception of parents, the Global Integration Method demonstrated effectiveness in achieving functional goals for children with ASD and their families. Parents expressed satisfaction with the intervention and indicated that it incorporated elements of family-professional collaboration.

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35. Stalford D, Graham S, Keenan M. Correction: A Discussion of Positive Behavior Support and Applied Behavior Analysis in the Context of Autism Spectrum Disorder in the UK and Ireland. Behav Anal Pract;2025 (Mar);18(1):305.

[This corrects the article DOI: 10.1007/s40617-023-00905-x.].

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36. Stewart J, Cho GHY. Autism-like features and FOXP1 syndrome: A scoping review. Brain Dev;2025 (Mar 17);47(3):104346.

FOXP1 syndrome is a rare neurodevelopmental disorder associated with a range of cognitive, behavioural, and physical consequences, including autism spectrum disorder and associated symptomatology. This scoping review aims to explore the prevalence and characteristics of autism and autism-like features in individuals with FOXP1 syndrome. A comprehensive literature search identified 15 studies encompassing 103 participants. Of these, 13 studies (n = 76 participants) detailed autism spectrum disorder diagnostic information, and 13 studies (n = 37 participants) detailed information at the symptom level. Autism spectrum disorder was diagnosed in 39 % (n = 30) of cases, with repetitive and restrictive behaviours being the most commonly reported feature, observed in 89 % (n = 33) of patients. However, significant heterogeneity in study methodologies and diagnostic criteria prevented direct comparisons and may have led to an underestimation of certain symptoms. Additionally, inconsistencies in symptom reporting across studies further limited the accuracy of conclusions. Overall, findings highlight the need for more standardized and detailed assessments of autism-like features in FOXP1 syndrome to improve differential diagnosis and inform targeted intervention strategies. Future research should address these gaps to enhance understanding and clinical management of individuals with FOXP1 syndrome.

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37. Tamada K, Takumi T. Neurodevelopmental impact of CNV models in ASD: Recent advances and future directions. Curr Opin Neurobiol;2025 (Mar 15);92:103001.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication impairments and restricted, repetitive behaviors. ASD exhibits a strong genetic basis, with rare and common genetic variants contributing to its etiology. Copy number variations (CNVs), deletions or duplications of chromosomal segments, have emerged as key contributors to ASD risk. Rare CNVs often demonstrate large effect sizes and can directly cause ASD, while common variants collectively exert subtle influences. Recent advances have identified numerous ASD-associated CNVs, including recurrent loci such as 1q21.1, 2p16.3, 7q11.23, 15q11.2, 15q11-q13, 16p11.2 and 22q11.2. Mouse models carrying these CNVs have provided profound insights into the underlying neurobiological mechanisms. Recent studies integrating transcriptomic, proteomic, and functional imaging approaches have revealed alterations in synaptic function, neuronal differentiation, myelination, metabolic pathways, and circuit connectivity. Notably, investigations leveraging conditional knockout models, high magnetic field MRI, and single-cell analyses highlight disruptions in excitatory-inhibitory balance, white matter integrity, and dynamic gene regulatory networks. Parallel human-based approaches, including iPSC-derived neurons, cerebral organoids, and large-scale single-nucleus sequencing, are combined with animal model data. These integrative strategies promise to refine our understanding of ASD’s genetic architecture, bridging the gap between fundamental discoveries in model organisms and clinically relevant biomarkers, subtypes, and therapeutic targets in humans. This review summarizes key findings from recent CNV mouse model studies and highlights emerging technologies applied to human ASD samples. Finally, we outline prospects for translating findings from mouse studies to humans. By illuminating both unique and convergent genetic mechanisms, these advances offer a critical framework for unraveling etiological complexity in ASD.

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38. Teruya M, Kurihara K, Ishibashi T, Ota K, Shinzato H, Takaesu Y, Kondo T. The 12-item self-report Questionnaire for Difficulty in Social Communication as a simultaneous prescreening of autism spectrum and social anxiety. PCN Rep;2025 (Mar);4(1):e70084.

AIM: Young patients with social communication difficulties are often diagnosed with autism spectrum disorder (ASD), social communication disorder (SCD), or social anxiety disorder (SAD). This study aimed to develop a questionnaire, especially focusing on the prescreening of SAD complicated by ASD/SCD. METHODS: The 12-item self-report Questionnaire for Difficulty in Social Communication (DISC-12) was developed and analyzed using exploratory factor analysis in 94 patients with ASD/SCD (35 with SAD, 59 without). An additional 17 patients with only SAD were included. Convergent validity was assessed via correlations with the Autism Spectrum Quotient (AQ) and Liebowitz Social Anxiety Scale (LSAS). DISC-12 scores and demographics were compared across ASD/SCD, ASD/SCD + SAD, and SAD groups. Receiver operating characteristic (ROC) analysis of DISC-12 subscales distinguished autistic traits from social anxiety. RESULTS: Factor analysis revealed a three-factor model for the DISC-12, comprising nonassertiveness, poor empathy, and interpersonal hypersensitivity. DISC-12 showed significant correlations with the AQ (r = 0.412, p < 0.001) and LSAS (r = 0.429, p < 0.001). Patients with ASD/SCD had higher Poor Empathy scores, while SAD patients had higher Interpersonal Hypersensitivity scores than the other groups. ROC analysis indicated that Poor Empathy and Interpersonal Hypersensitivity subscale scores effectively differentiated ASD/SCD from patients with SAD and vice versa. CONCLUSION: DISC-12 is a rapid and effective prescreening tool for identifying both ASD and social anxiety, particularly in young patients with self-reported difficulties in social communication.

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39. Yuan LX, Chen DD, Dong WQ, Yang C, Zhang HF, Wang YB, Tang JS, Che XW, Cash RFH, Zang YF, Chen W. Case evidence of connectivity-guided intermittent theta burst stimulation for the treatment of autism spectrum disorder. Brain Stimul;2025 (Mar 17)

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40. Zhang J, Eaton M, Chen X, Zhao Y, Kant S, Deming BA, Harish K, Nguyen HP, Shu Y, Lai S, Wu J, Que Z, Wettschurack KW, Zhang Z, Xiao T, Halurkar MS, Olivero-Acosta MI, Yoo YE, Lanman NA, Koss WA, Skarnes WC, Yang Y. Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated Scn2a-deficiency. bioRxiv;2025 (Mar 5)

Social behavior is critical for survival and adaptation, which is profoundly disrupted in autism spectrum disorders (ASD). Social withdrawal due to information overload was often described in ASD, and it was suspected that increased basal noise, i.e., excessive background neuronal activities in the brain could be a disease mechanism. However, experimental test of this hypothesis is limited. Loss-of-function mutations (deficiency) in SCN2A, which encodes the voltage-gated sodium channel Na(V)1.2, have been revealed as a leading monogenic cause of profound ASD. Here, we revealed that Scn2a deficiency results in robust and multifaceted social impairments in mice. Scn2a-deficient neurons displayed an increased excitation-inhibition (E/I) ratio, contributing to elevated basal neuronal noise and diminished signal-to-noise ratio (SNR) during social interactions. Notably, the restoration of Scn2a expression in adulthood is able to rescue both SNR and social deficits. By balancing the E/I ratio and reducing basal neuronal firing, an FDA-approved GABA(A) receptor-positive allosteric modulator improves sociability in Scn2a-deficient mice and normalizes neuronal activities in translationally relevant human brain organoids carrying autism-associated SCN2A nonsense mutation. Collectively, our findings revealed a critical role of the Na(V)1.2 channel in the regulation of social behaviors, and identified molecular, cellular, and circuitry mechanisms underlying SCN2A-associated disorders.

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