1. Adams D, Gray KM, den Houting J, Paynter J, Melvin G, Simpson K. Concurrent and Longitudinal Predictors of School Non-attendance in Autistic Adolescents. J Autism Dev Disord. 2025.

Recent research has shown that autistic children are reported to have lower school attendance than non-autistic students. School non-attendance can occur for multiple reasons, including attendance at medical/health appointments and school refusal/emotionally based school avoidance. Providing support to improve autistic children’s school attendance requires an understanding of the factors that potentially lead to or influence specific types of school non-attendance. The aim of this study was to identify concurrent and longitudinal school, family, and child factors associated with school non-attendance in autistic children. Parents/caregivers who had previously participated in a 6 year longitudinal study in Australia were invited to complete a follow-up online survey about their child’s school attendance. Seventy-seven parents of autistic children aged 11-14 years participated. Over 40% of children had persistent absence (> 10% days) from school. Based on multivariate negative binomial regression models, child anxiety was a significant predictor of days missed for multiple types of school non-attendance. Other factors, including child sensory processing differences, child behavioural and emotional challenges, parent stress, family income, and parent employment, were correlated with specific absence types. Child anxiety was the strongest and most consistent longitudinal predictor, with higher child anxiety significantly predicting more days of school non-attendance 3, 4, and 6 years later. Findings highlight the importance of considering school, child, and family factors specific to different types of school non-attendance to support autistic children. Identifying factors that lead to child anxiety and preventing/reducing child anxiety early is a potentially promising avenue to support attendance.

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2. Aitken D, Hodge G, Page M, Lastmann E, Hiller S, George RE. Correction: Navigating medical school with autism: a systematic review exploring student experiences & support provision in the United Kingdom. BMC Med Educ. 2025; 25(1): 1166.

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3. Byrne K, Clarke EB, Sterrett K, Lord C. Challenges in Measuring Social Communication Changes in Verbally Fluent Autistic Individuals: Development of the Brief Observation of Social Communication Change: Fluent 1 and Fluent 2 (BOSCC-F1/F2). J Autism Dev Disord. 2025.

PURPOSE: The current study investigated the utility of the Brief Observation of Social Communication Change-Fluent 1 and Fluent 2 (BOSCC-F1/F2) as a potential outcome measure of social communication change by analyzing the measure’s psychometric properties and initial validity. METHODS: The BOSCC-F1/F2 coding scheme was applied to 245 caregiver-implemented administrations across 114 English speaking participants between the ages of 6 and 44 years. Participants had a documented diagnosis of autism, fluent speech, and were receiving behavioral intervention during the study period. RESULTS: Test-retest and inter-rater reliability were good for the Early Communication and Social Reciprocity/Language domains, and fair for the Restricted and Repetitive Behavior domain. There were no statistically significant changes in the Early Communication, Social Reciprocity, Social Communication Domain or Core Total. There were also no changes in SRS Total T-scores over the same measurement period. CONCLUSION: The BOSCC-F1/F2 demonstrated good inter-rater and test-retest reliability with a well-fitting 3-factor structure. Yet, meaningful social communication changes were not observed over time. The goals of intervention should be considered when determining the utility of the BOSCC-F1/F2 as an outcome measure. Future research should explore the validity of the BOSCC-F1/F2 using different intervention modalities and intensities.

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4. Calì F, Virgillito M, Treccarichi S, Musumeci A, Failla P, Papa C, Galati Rando R, Federico C, Saccone S, Vinci M. ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant. Int J Mol Sci. 2025; 26(15).

Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome sequencing (WES) identified a de novo variant (c.1530dup, p.Glu511ArgfsTer16) in the ZNF496 gene of the proband. According to ACMG guidelines, this novel variant is classified as pathogenic. It creates a frameshift that introduces a premature stop codon, resulting in a truncated protein of 525 amino acids (compared to the wild-type 587 residues). Notably, NMDEscPredictor analysis predicted that the transcript escapes nonsense-mediated decay (NMD) despite the frameshift. Computational analyses suggest the potential pathogenetic effects of the identified variant. As documented, ZNF496 interacts with JARID2, a gene associated with NDDs, ID and facial dysmorphism (MIM: #620098). In silico analyses suggest that the identified mutation disrupts this interaction by deleting ZNF496’s C2H2 domain, potentially dysregulating JARID2 target genes. To our knowledge, this is the first reported association between ZNF496 and NDDs, and the variant has been submitted to the ClinVar database (SCV006100880). Functional studies are imperative to validate ZNF496’s role in NDDs and confirm the mutation’s impact on ZNF496-JARID2 interactions.

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5. Chivchibashi-Pavlova D, Bratoeva K. Animal models of autism spectrum disorder: Insights into genetic, structural and environmental models. Vet Med (Praha). 2025; 70(7): 227-41.

Autism spectrum disorder (ASD) is a group of human neurodevelopmental disorders with significant global prevalence. Deficits in social communication and interaction and repetitive, stereotyped patterns of behaviour characterise ASD. The aetiology of ASD is unclear, but several genetic and environmental risk factors, either alone or in combination, are implicated in its development. To date, the underlying pathogenic mechanisms of ASD remain incompletely understood due to its heterogeneity. To better understand the pathogenesis of ASD, various animal models have been developed. The use of animals in ASD research allows the exploration of the biological substrates of social behaviour, cognition, and reward sensitivity, which are key components of ASD symptoms. This review outlines the commonly employed animal models in ASD research and explores their applications and the associated challenges.

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6. Christensen KE, Faquette ML, Keser V, Reagan AM, Gebert AT, Bottiglieri T, Howell GR, Rozen R. Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr(677TT) Mice. Nutrients. 2025; 17(15).

Background/Objectives: Low folate intake before and during pregnancy increases the risk of neural tube defects and other adverse outcomes. Gene variants such as MTHFR 677C>T (rs1801133) may increase risks associated with suboptimal folate intake. Our objective was to use BALB/cJ Mthfr(677C>T) mice to evaluate the effects of the TT genotype and low folate diets on embryonic development and MTHFR protein expression in pregnant mice. Methods: Female 677CC (mCC) and 677TT (mTT) mice were fed control (2 mg folic acid/kg (2D)), 1 mg folic acid/kg (1D) and 0.3 mg folic acid/kg (0.3D) diets before and during pregnancy. Embryos and maternal tissues were collected at embryonic day 10.5. Embryos were examined for developmental delays and defects. Methyltetrahydrofolate (methylTHF) and total homocysteine (tHcy) were measured in maternal plasma, and MTHFR protein expression was evaluated in maternal liver. Results: MethylTHF decreased due to the experimental diets and mTT genotype. tHcy increased due to 0.3D and mTT genotype; mTT 0.3D mice had significantly higher tHcy than the other groups. MTHFR expression was lower in mTT liver than mCC. MTHFR protein expression increased due to low folate diets in mCC mice, whereas in mTT mice, MTHFR expression increased only due to 1D. Developmental delays were increased in the litters of mTT mice fed 1D and 0.3D. Conclusions: The Mthfr(677C>T) mouse models the effects of the MTHFR 677TT genotype in humans and provides a folate-responsive model for examination of the effects of folate intake and the MTHFR 677C>T variant during gestation.

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7. Cuccio V, Tambuscio F, Leonardi E, Famà FI, Carrozza C, Aiello S, Campisi A, Minutoli R, Chilà P, Marino F, Campisi S, Bruschetta R, Pelosi A, Sciutti A, Mastrogiuseppe M, Ruta L, Tartarisco G, Pioggia G, Di Cesare G. Recognition of Action Vitality Forms is Linked to Social Communication Traits in Autism. J Autism Dev Disord. 2025.

Vitality Forms (VFs) capture the essence of human movement, revealing how we engage in actions. Perceiving and expressing VFs are crucial for social communication, allowing us to understand the behavior of others. Despite their pervasiveness in our life, research on VFs in autism is limited. The present study aims to investigate the perception of different VFs in children presenting an Autism Spectrum Condition (ASC) in comparison to neurotypical children (NT). Both groups observed pre-recorded actions with different VFs previously performed by the same ASC and NT children. After the observation of each action, children judged their VFs using a four-point Likert scale. Our results highlight three key findings: (1) ASC children recognized VFs, but with significantly lower accuracy (57.2%) than NT children (70%); (2) ASC children took longer to recognize VFs (1751ms) compared to NT children (1323ms); (3) these differences correlated with the ADOS Social Affect score in ASC children. The slower and less accurate VFs recognition in ASC suggests a potential delay in understanding VFs, possibly due to a different processing of visual cues like speed or acceleration. Overall, this study contributes to shed light on how VFs impact social communication in autistic children, informing future interventions and support.

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8. Ehsan K, Sultan K, Fatima A, Sheraz M, Chuah TC. Early Detection of Autism Spectrum Disorder Through Automated Machine Learning. Diagnostics (Basel). 2025; 15(15).

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder distinguished by an extensive range of symptoms, including reduced social interaction, communication difficulties and tiresome behaviors. Early detection of ASD is important because it allows for timely intervention, which significantly improves developmental, behavioral, and communicative outcomes in children. However, traditional diagnostic procedures for identifying autism spectrum disorder (ASD) typically involve lengthy clinical examinations, which can be both time-consuming and costly. This research proposes leveraging automated machine learning (AUTOML) to streamline the diagnostic process and enhance its accuracy. Methods: In this study, by collecting data from various rehabilitation centers across Pakistan, we applied a specific AUTOML tool known as Tree-based Pipeline Optimization Tool (TPOT) for ASD detection. Notably, this study marks one of the initial explorations into utilizing AUTOML for ASD detection. The experimentations indicate that the TPOT provided the best pipeline for the dataset, which was verified using a manual machine learning method. Results: The study contributes to the field of ASD diagnosis by using AUTOML to determine the likelihood of ASD in children at prompt stages of evolution. The study also provides an evaluation of precision, recall, and F1-score metrics to confirm the correctness of the diagnosis. The propose TPOT-based AUTOML framework attained an overall accuracy 78%, with a precision of 83%, a recall of 90%, and an F1-score of 86% for the autistic class. Conclusions: In summary, this research offers an encouraging approach to improve the detection of autism spectrum disorders (ASD) in children, which could lead to better results for affected individuals and their families.

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9. Eigsti IM, Larson C, Naigles L. Associations between pragmatic language and Theory of Mind in individuals with a history of autism and those who have lost the autism diagnosis. Philos Trans R Soc Lond B Biol Sci. 2025; 380(1932): 20230504.

Although Theory of Mind (ToM) is seen as a primary contributor to pragmatic language use in autistic individuals, less work has considered the influence of structural language. This study examines grammaticality judgements, ToM (Reading the Eyes in the Mind task, Social Attribution test) and pragmatic language (a de novo measure based on Pragmatic Language Scales)-and their associations-in three groups with heterogenous abilities: current autism (n = 36); those with a history of autism spectrum disorder, who no longer display symptoms (‘loss of autism diagnosis’, LAD; n = 32) and non-autistic (n = 36) adolescents and adults with fluent verbal skills. ‘Results showed that autistic individuals experience pragmatic difficulties and difficulties in affective ToM relative to both other groups, and difficulties in structural language relative to neurotypical controls; LAD individuals showed no impairments. While pairwise associations of structural language and Matrix Reasoning with pragmatic language were observed, ToM was the only unique predictor of pragmatic language when all measures were included in the models. Results suggest complex interactions among pragmatic and structural language, and ToM, and that pragmatic language improves meaningfully with broad changes in broad aspects of autism when individuals lose the autism diagnosis.This article is part of the theme issue ‘At the heart of human communication: new views on the complex relationship between pragmatics and Theory of Mind’.

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10. Erarkadaş M, Özmeral Erarkadaş K, Şişmanlar Ş G. Autism Spectrum Disorder Beyond Childhood: A Comprehensive Assessment of Activities of Daily Living and Social Functioning in Turkish Adults. J Autism Dev Disord. 2025.

This study aims to evaluate the levels of independence and social functioning in adulthood among individuals diagnosed with Autism Spectrum Disorder (ASD) during childhood, and to investigate the predictive factors associated with these outcomes. Behavioral problems were evaluated using the Aberrant Behavior Checklist, activities of daily living were assessed using the Lawton Instrumental Activities of Daily Living Scale (IADL), and social functioning was measured with the Social Functioning Scale (SFS). Among 87 participants, only 4.6% (n = 4) were living alone, independently. Individuals with delayed motor milestones, who were illiterate, had lower intellectual levels, or had comorbid psychiatric disorders, showed significantly lower scores on the IADL and SFS. More than half of the participants were dependent in activities of daily living. Increased age, fewer siblings, being born earlier among siblings, earlier sentence formation, earlier acquisition of reading and writing skills, lower severity of autism symptoms, and fewer behavioral problems were associated with higher score in the SFS and IADL. Predictors of independence in activities of daily living included CARS score (severity of autism symptoms), intellectual level, SFS total score, and age at first sentence formation. Predictors of social functioning included CARS score, IADL total score, and age of literacy acquisition. We believe that our article, which, unlike many studies in the literature, includes individuals with varying autism severity and intellectual levels and evaluates the activities of daily living and social functioning in adults, utilizes validated psychometric tests, will contribute greatly to the literature.

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11. Espinosa Mendoza TA, Oviedo Lara AR, Henk Jordan G, Sampieri-Cabrera R, Perez Martinez LE. Correction: Effects of Low-Intensity Transcranial Magnetic Stimulation in Neuropsychological Development of Pediatric Subjects With Autism Spectrum Disorder: A Longitudinal Retrospective Approach. Cureus. 2025; 17(8): c241.

[This corrects the article DOI: 10.7759/cureus.76569.].

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12. Gkintoni E, Panagioti M, Vassilopoulos SP, Nikolaou G, Boutsinas B, Vantarakis A. Leveraging AI-Driven Neuroimaging Biomarkers for Early Detection and Social Function Prediction in Autism Spectrum Disorders: A Systematic Review. Healthcare (Basel). 2025; 13(15).

Background: This systematic review examines artificial intelligence (AI) applications in neuroimaging for autism spectrum disorder (ASD), addressing six research questions regarding biomarker optimization, modality integration, social function prediction, developmental trajectories, clinical translation challenges, and multimodal data enhancement for earlier detection and improved outcomes. Methods: Following PRISMA guidelines, we conducted a comprehensive literature search across 8 databases, yielding 146 studies from an initial 1872 records. These studies were systematically analyzed to address key questions regarding AI neuroimaging approaches in ASD detection and prognosis. Results: Neuroimaging combined with AI algorithms demonstrated significant potential for early ASD detection, with electroencephalography (EEG) showing promise. Machine learning classifiers achieved high diagnostic accuracy (85-99%) using features derived from neural oscillatory patterns, connectivity measures, and signal complexity metrics. Studies of infant populations have identified the 9-12-month developmental window as critical for biomarker detection and the onset of behavioral symptoms. Multimodal approaches that integrate various imaging techniques have substantially enhanced predictive capabilities, while longitudinal analyses have shown potential for tracking developmental trajectories and treatment responses. Conclusions: AI-driven neuroimaging biomarkers represent a promising frontier in ASD research, potentially enabling the detection of symptoms before they manifest behaviorally and providing objective measures of intervention efficacy. While technical and methodological challenges remain, advancements in standardization, diverse sampling, and clinical validation could facilitate the translation of findings into practice, ultimately supporting earlier intervention during critical developmental periods and improving outcomes for individuals with ASD. Future research should prioritize large-scale validation studies and standardized protocols to realize the full potential of precision medicine in ASD.

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13. Gundeslioglu H, Gray KM, Thompson PA, Langdon PE. Mental Health Problems Among UK Undergraduates: A Comparison Study of Autistic and Non-autistic Students. J Autism Dev Disord. 2025.

The aim of this study was to examine whether the relationship between a set of risk and protective factors (e.g., self-esteem, stress, intolerance of uncertainty, autistic symptoms) and mental health problems differed between autistic and non-autistic undergraduates enrolled in UK universities across genders. Autistic and non-autistic undergraduates were invited to complete an online survey between November 2022 and June 2023. The sample included 226 autistic participants, mean age = 21.36, SD = 4.04, and 46.9%, and 521 non-autistic participants, mean age = 21.96, SD = 4.24, and 63.3%. Two-way ANOVA followed by post-hoc comparisons were used to examine gender differences in mental health problems and multiple regression models were used to identify the predictors of mental health problems among autistic participants in comparison to non-autistic participants. A higher number of autistic undergraduates self-reported having mental health diagnoses than non-autistic undergraduates. Autistic females and autistic and non-autistic individuals of genders other than male or female had increased suicidality-defined to include both suicidal ideation and behaviours – relative to some groups. There were no gender differences in anxiety and worry, and in behavioural symptoms of depression and anxiety. Moreover, for both autistic and non-autistic participants, intolerance of uncertainty was associated with higher levels of anxiety and worry, whereas resilience was associated with lower levels of suicidality and behavioural symptoms of depression and anxiety. While autistic undergraduates self-reported more mental health disorders, there were more similarities than differences between autistic and non-autistic undergraduate students in terms of mental health risk and protective factors.

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14. Hnoonual A, Plong-On O, Tangviriyapaiboon D, Charalsawadi C, Limprasert P. A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand. Int J Mol Sci. 2025; 26(15).

Fragile X syndrome (FXS) is the most common form of X-linked intellectual disability (ID). This study aimed to share 30 years of experience in diagnosing FXS and determine its frequency in Thailand. We retrospectively reviewed 1480 unrelated patients (1390 males and 90 females) with ID, developmental delay, or autism spectrum disorder, or individuals referred for FXS DNA testing at Songklanagarind Hospital, Thailand, over a 30-year period. The samples were analyzed using cytogenetic methods, PCR-based techniques, and/or Southern blot analysis. Full mutations (>200 CGG repeats) were identified in 100 males (7.2%) and three females (3.3%). An intermediate allele was detected in one male, while no premutation was found in the index cases. Two males were suspected to have FMR1 gene deletions. Twelve families underwent prenatal testing during this study. Most families undergoing prenatal FXS diagnosis involved mothers who were premutation carriers and had given birth to children affected by FXS. This study represents the largest series of molecular genetic FXS testing cases reported in Thailand. The frequency of FXS identified in different cohorts of Thai patients across various periods was approximately 7%. This study enhances public awareness of at-risk populations and highlights the importance of prenatal testing and genetic counseling for vulnerable families.

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15. Josol CK, Fisher MH, Cho E. Exploring the Relationship Between Empathy and Social Skills for Individuals with Different Forms of Intellectual and Developmental Disabilities. J Autism Dev Disord. 2025.

For individuals with intellectual and developmental disabilities (IDD), the understanding and expression of empathy and its various components can be challenging. However, different etiologies can elucidate various strengths and weaknesses related to empathy. The present study examined the specific relationship of empathy and social skills for individuals with autism (AD), Williams syndrome (WS), Down syndrome (DS), and a non-disabled (ND) control group. The research questions for the current study were (a) Do caregiver ratings of empathy and social skills differ across individuals with AD, WS, DS, and ND?; and (b) Are there differences in the relationship between empathy skills and social skills within and across groups? The total sample (N = 120) included caregivers of 30 individuals diagnosed with AD (mean age = 10.73 years), 30 individuals diagnosed with WS (mean age = 12.07 years), 30 individuals with DS (mean age = 11.53 years), and 30 ND individuals (mean age = 10.90 years). Caregivers were asked to complete the children’s version of the Empathy Quotient and the Social Responsiveness Scale (2nd Edition). According to caregiver reports, AD individuals present with lower empathy skills compared to WS, DS, and ND individuals. Differences between groups were also demonstrated regarding the relationship between empathy and social skills. More specifically, for WS individuals, lower empathy skills were not significantly correlated with social motivation. The results highlight that differences in empathy and social skills should be accounted for in empathy-related interventions and underscores the importance of developing etiology-specific interventions.

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16. Kabakov SA, Surgent OJ, Skaletski EC, Sideris J, Ausderau KK, Travers BG. Application of Sensory Subtypes: Understanding Core Autism Features, Adaptive Behaviors, and Motor Skills in Autistic Children. J Autism Dev Disord. 2025.

Sensory processing differences are prevalent among autistic children impacting their participation in daily activities. Sensory subtypes provide a useful approach to understand these differences, as sensory response patterns often co-occur. The purpose of this paper is to apply existing sensory subtype methodology to examine the four sensory subtypes’ association with child outcome measures. Autistic children (n = 118) ages 6-18 years old were grouped into four sensory subtypes of mild, sensitive-distressed, attenuated-preoccupied, and extreme-mixed. This study examined associations among the four sensory subtypes and motor skills, core autism features, and adaptive behaviors. Most children were categorized into the mild (n = 53) and sensitive-distressed (n = 45) subtype with very few children falling in the attenuated-preoccupied (n = 9) and extreme-mixed subtype (n = 11). The four subtypes had group differences identified for motor skills, core autism features, and adaptive behaviors. The mild and attenuated-preoccupied had higher motor skills compared to the sensitive-distressed and extreme-mixed subtype. The extreme-mixed subtype had more core autism features, and lower adaptive behavior compared to the mild subtype. Sensory subtypes exhibit differential associations to child outcome measures for autistic children ages 6-18 years old. Understanding these relationships may provide an opportunity for earlier, targeted interventions to address the role sensory differences play in daily activities.

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17. Koyama H, Yamanaka T, Maegaki Y, Inoue M. A Pilot Pre-Post Study of an Internet-Based Sleep Education Program for Parents of Children with Autism Spectrum Disorder and Sleep Disturbance in Japan. Yonago Acta Med. 2025; 68(3): 250-61.

BACKGROUND: Children with autism spectrum disorder frequently experience persistent sleep difficulties that persist into adulthood. These issues are linked to adverse outcomes like behavioral issues, poor academic performance, and increased parental stress, highlighting the importance of early interventions. We assessed an internet-based sleep education program for parents of children with autism spectrum disorder and conducted a preliminary examination of its potential to improve sleep quality and behavioral outcomes. METHODS: Eighteen parent-child pairs participated in an internet-based sleep education program. Outcomes related to the program were assessed at three time points: baseline, 4 weeks post-intervention, and 10 weeks post-intervention. Key measures analyzed included sleep parameters, sleep habits, children’s behavioral problems, parental mental health, and parenting attitudes, using validated assessment tools. RESULTS: At 4 weeks post-intervention, the program demonstrated a reduction in the time required for children to fall asleep, an enhancement in sleep efficiency, and an improvement in parental mental health. At 10 weeks post-intervention, improvements were also observed in children’s externalizing behavior problems. Parents reported increased confidence in managing their children’s sleep issues and noted a positive impact on family dynamics. CONCLUSION: The findings suggest that the internet-based sleep education program may be an effective and acceptable intervention for addressing sleep difficulties in children with autism spectrum disorder. This study contributes substantially to the existing literature, highlighting the potential for internet-based interventions to enhance sleep management strategies. This study was retrospectively registered with the jRCT on September 30, 2024 (jRCT1062240058).

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18. Larson C, Morett LM, Barth S, Durrleman S, Vulchanova M. Dis/Associations Between Language and In-the-Moment Mental Rotation Effort in Autism. Autism Res. 2025.

In-the-moment dissociations between language and visuospatial systems in autism spectrum disorder (ASD) may explain notable heterogeneity observed in both language and visuospatial skills. The current study used pupillometry, a physiological measure of in-the-moment cognitive effort, during a mental rotation task to examine associations between structural language and visuospatial cognition. Participants were 25 children and young adults with ASD and 25 age- and IQ-matched neurotypical (NT) peers. The mental rotation task involved four conditions: two- and three-dimensional figures, and two- and three-dimensional objects. We measured structural language using the grammar subscale from the Test of Language Development: Intermediate. Growth-curve mixed-effects model results indicated no overall group differences in average pupil dilation or the time course of cognitive effort. Group differences were evident in the association between grammar skills and latency of cognitive effort for stimuli in the objects, 3D, and, more narrowly, 3D objects conditions. Autistic individuals with relatively better grammar skills deployed cognitive effort less efficiently, whereas, NT individuals with relatively better grammar skills deployed cognitive effort more efficiently. These findings suggest that language and visuospatial systems are more dissociated in autistic individuals than in NT peers. This work underscores the importance of examining the time course of how language and cognition interact in ASD.

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19. Liang C, Silva RF, Adali T, Jiang R, Zhang D, Qi S, Calhoun VD. Confound Controlled Multimodal Neuroimaging Data Fusion and Its Application to Developmental Disorders. IEEE Trans Image Process. 2025; 34: 5271-84.

Multimodal fusion provides multiple benefits over single modality analysis by leveraging both shared and complementary information from different modalities. Notably, supervised fusion enjoys extensive interest for capturing multimodal co-varying patterns associated with clinical measures. A key challenge of brain data analysis is how to handle confounds, which, if unaddressed, can lead to an unrealistic description of the relationship between the brain and clinical measures. Current approaches often rely on linear regression to remove covariate effects prior to fusion, which may lead to information loss, rather than pursue the more global strategy of optimizing both fusion and covariates removal simultaneously. Thus, we propose « CR-mCCAR » to jointly optimize for confounds within a guided fusion model, capturing co-varying multimodal patterns associated with a specific clinical domain while also discounting covariate effects. Simulations show that CR-mCCAR separate the reference and covariate factors accurately. Functional and structural neuroimaging data fusion reveals co-varying patterns in attention deficit/hyperactivity disorder (ADHD, striato-thalamo-cortical and salience areas) and in autism spectrum disorder (ASD, salience and fronto-temporal areas) that link with core symptoms but uncorrelate with age and motion. These results replicate in an independent cohort. Downstream classification accuracy between ADHD/ASD and controls is markedly higher for CR-mCCAR compared to fusion and regression separately. CR-mCCAR can be extended to include multiple targets and multiple covariates. Overall, results demonstrate CR-mCCAR can jointly optimize for target components that correlate with the reference(s) while removing nuisance covariates. This approach can improve the meaningful detection of reliable phenotype-linked multimodal biomarkers for brain disorders.

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20. Lin HT, Fan LY, Cheng CY, Chou TL, Gau SS. Developmental differences in neural correlates of semantic processing and executive performances between autistic boys and non-autistic boys. J Formos Med Assoc. 2025.

BACKGROUND: Previous studies have separately investigated neural alterations during semantic judgments and executive functions in autism without extensively exploring their interrelations. Understanding the relationship between semantic processing and executive function is important for the autistic population due to the significant impacts of both domains. METHODS: 54 autistic boys and 56 age-, handedness-, and IQ-matched non-autistic boys were assessed with semantic judgment tasks during fMRI scans, assessments using the Cambridge Neuropsychological Test Automated Battery (CANTAB), and evaluations with the Behavior Rating Inventory of Executive Function. Regression analysis was conducted to explore correlations between neural activation during semantic processing and executive functions. RESULTS: Neuroimaging identified a significant age (child, adolescent) x group (autistic, non-autistic) interaction in the left anterior prefrontal cortex. This neural alteration exhibited a negative association with executive functions in autistic children, whereas a positive correlation was observed in non-autistic children and adolescents. CONCLUSIONS: Our findings implicate a developmental alteration in the left anterior prefrontal cortex related to semantic processing in autistic youths, with these changes differentially associated with executive functions across autistic and non-autistic groups. These findings elucidate the interplay between the semantic networks and executive functions in autistic youths.

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21. Liu J, Mao J, Lin H, Kuang H, Pan S, Wu X, Xie S, Liu F, Pan Y. Multi-Modal Multi-Kernel Graph Learning for Autism Prediction and Biomarker Discovery. IEEE Trans Comput Biol Bioinform. 2025; 22(2): 842-54.

Graph learning-based multi-modal integration and classification is one of the most challenging tasks for disease prediction. To effectively offset the negative impact among modalities in the process of multi-modal integration and heterogeneous information extractions from graphs, we propose a novel method called Multi-modal Multi-Kernel Graph Learning (MMKGL). To solve the problem of negative impact among modalities, we propose a multi-modal graph embedding module to construct a multi-modal graph. Different from conventional methods that manually construct static graphs for all modalities, each modality generates a separate graph by adaptive learning, where a function graph and a supervision graph are introduced for optimization during the multi-graph fusion embedding process. We then propose a multi-kernel graph learning module to extract heterogeneous information from the multi-modal graph. The information in the multi-modal graph at different levels is aggregated by convolutional kernels with different receptive field sizes, followed by generating a cross-kernel discovery tensor for disease prediction. Our method is evaluated on the benchmark Autism Brain Imaging Data Exchange (ABIDE) dataset and outperforms the state-of-the-art methods. In addition, discriminative brain regions associated with autism are identified by our model, providing guidance for the study of autism pathology.

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22. Liu Z, Wu C, Lin Z, Li H, Liu Y, Amjad N, Majid M, Basnet R, Li Z. Triple-phase VPA administration in Sprague-Dawley rats: A cost-effective ASD model unveiling the synaptic-mitochondrial-inflammatory axis as a therapeutic target. Life Sci. 2025; 379: 123900.

AIMS: To overcome limitations of traditional single-dose valproic acid (VPA) models in autism spectrum disorder (ASD) research-including severe maternal toxicity and imprecise embryonic exposure-this study established a cost-effective ASD model using a three-phase sequential VPA strategy in Sprague-Dawley (SD) rats. MATERIALS AND METHODS: Pregnant SD rats received VPA (400 → 450 → 400 mg·kg(-1)) on gestational days 11.5, 12.5, and 13.5. Maternal/neonatal survival, neurodevelopmental milestones, and behavioral phenotypes (open field, three-chamber sociability, repetitive grooming) were assessed. Synaptic ultrastructure (transmission electron microscopy), neuroinflammation (ELISA for IL-1β, IL-6, TNF-α, IL-10), and oxidative stress (CAT, SOD, GSH-Px, MDA) in the prefrontal cortex were analyzed. KEY FINDINGS: The optimized protocol eliminated maternal mortality (p < 0.01) and resorption (p < 0.0001), while enhancing neonatal survival (p < 0.01) and litter size (12-16 pups). Model rats exhibited core ASD phenotypes: social deficits (p < 0.0001), repetitive grooming (P < 0.01), and delayed neurodevelopment. Synaptic vesicle depletion, mitochondrial cristae disruption, proinflammatory cytokine upregulation (p < 0.01), and antioxidant suppression (p < 0.01) confirmed synaptic-mitochondrial-inflammatory axis dysregulation. SD rats outperformed C57BL/6 mice in phenotypic fidelity and modeling efficiency. SIGNIFICANCE: This study pioneers a three-phase VPA strategy that balances high ASD phenotyping fidelity with animal welfare. The synaptic-mitochondrial-inflammatory axis is identified as a novel therapeutic target. SD rats provide a superior, cost-effective platform for ASD mechanism and intervention studies.

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23. Maeda R, Nakamura T, Yamano M, Yamano T, Zen K, Matoba S. When size matters: successful transcatheter closure of an extra-large PFO using an ASD occluder. Cardiovasc Interv Ther. 2025.

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24. Mosalmannejad H, Borhani K, Pouretemad H. Exploring the Broader Autism Phenotype: How Alexithymia Impacts Recognition of Facial Expressions of Pain. J Autism Dev Disord. 2025.

PURPOSE: Autism spectrum disorder has been associated with deficits in socio-emotional interactions; however, research results are not homogenous in this regard. To explain this variety of observations, the alexithymia hypothesis suggests that impaired emotion processing in autism is due to co-occurring alexithymia. Furthermore, while DSM-5 references altered responses to painful stimuli in individuals with autism, the discussion continues regarding their ability in recognizing painful facial expressions. The Broader Autism Phenotype theory also posits that ASD represents an extreme of a spectrum of autistic traits present in the general population. This study investigates the perceptual sensitivity threshold for recognizing painful facial expressions and gaze behavior among individuals with high and low autistic traits. METHODS: A total of 462 participants completed the Autism-Spectrum Quotient (AQ-50) and the Toronto Alexithymia Scale (TAS-20). Among them, 35 individuals were assigned to the high-AQ group (66% female) and 31 were assigned to the low-AQ group (68% female). Participants performed a facial expression recognition task and had their eye movements recorded, then completed the Depression, Anxiety, and Stress Scale and the Interpersonal Reactivity Index. RESULTS: Results revealed no significant differences between groups in sensitivity thresholds or visual attention patterns, although a notable correlation existed between alexithymia and sensitivity thresholds. CONCLUSION: These findings support the alexithymia hypothesis, indicating that difficulties in recognizing pain through facial expressions relate to alexithymia, not to autistic traits. Specifically, our results contradict previous studies suggesting reduced gaze duration at faces in autistic individuals.

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25. Osredkar J, Fabjan T, Godnov U, Jekovec-Vrhovšek M, Giebułtowicz J, Bobrowska-Korczak B, Avguštin G, Kumer K. Systemic Uremic Toxin Burden in Autism Spectrum Disorder: A Stratified Urinary Metabolite Analysis. Int J Mol Sci. 2025; 26(15).

Autism spectrum disorder (ASD) is increasingly associated with microbial and metabolic disturbances, including the altered production of gut-derived uremic toxins. We investigated urinary concentrations of five representative uremic toxins-indoxyl sulfate (IS), p-cresyl sulfate (PCS), trimethylamine N-oxide (TMAO), asymmetric dimethylarginine (ADMA), and symmetric dimethylarginine (SDMA)-in 161 children with ASD and 71 healthy controls. Toxins were measured using LC-MS/MS and were normalized to creatinine. Subgroup analyses were performed by sex, age group (2-5.9 vs. 6-17 years), and autism severity based on the Childhood Autism Rating Scale (CARS). In addition to individual concentrations, we calculated the total toxin burden, proportional contributions, and functional ratios (IS/PCS, PCS/TMAO, and IS/ADMA). While individual toxin levels did not differ significantly between groups, stratified analyses revealed that PCS was higher in girls and in severe cases of ASD, whereas IS and TMAO were reduced in younger and more severely affected children. The functional ratios shifted consistently with severity-IS/PCS declined from 1.69 in controls to 0.99 in severe cases of ASD, while PCS/TMAO increased from 12.2 to 20.5. These patterns suggest a phenolic-dominant microbial signature and an altered host-microbial metabolic balance in ASD. Functional toxin profiling may offer a more sensitive approach to characterizing metabolic disturbances in ASD than concentration analysis alone.

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26. Sabatini G, Boccadoro I, Prete R, Battista N, Corsetti A. Autism Spectrum Disorder: From Experimental Models to Probiotic Application with a Special Focus on Lactiplantibacillus plantarum. Nutrients. 2025; 17(15).

BACKGROUND/OBJECTIVES: Autism spectrum disorder (ASD) encompasses several neurodevelopmental disorders, whose onset is correlated to genetic and environmental factors. Although the etiopathogenesis is not entirely clear, the involvement of inflammatory processes, the endocannabinoid system, and alterations in the permeability and composition of the intestinal microbiota are known to occur. METHODS: This review systematically explores the literature available to date on the most widely used murine models for the study of ASD, the main biomarkers investigated for the diagnosis of ASD, and the therapeutic potential of probiotics, with a particular focus on the use of strains of Lactiplantibacillus (Lpb.) plantarum in in vivo models and clinical trials for ASD. RESULTS: Several studies have demonstrated that targeting multifactorial biomarkers in animal models and patients contributes to a more comprehensive understanding of the complex mechanisms underlying ASD. Moreover, accumulating evidence supports the beneficial effect of probiotics, including Lpb. plantarum, as a promising alternative therapeutic strategy, capable of modulating gut-brain axis communication. CONCLUSIONS: Probiotic supplementation, particularly with selected Lpb. plantarum strains, is emerging as a potential complementary approach for ameliorating ASD-related gastrointestinal and behavioral symptoms. However, further large-scale clinical studies are essential to validate their efficacy and determine optimal treatment protocols and dietary strategies.

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27. Sabri MS, Klair N, Wiener J, Gamero MT, Johnson D. Fragile X and Fatal Rhythms: Electroconvulsive Therapy-Induced Ventricular Tachycardia. JACC Case Rep. 2025: 105077.

BACKGROUND: Fragile X syndrome (FXS) is associated with autonomic dysfunction and ion channel abnormalities that increase the risk of arrhythmias. Electroconvulsive therapy (ECT), used to treat catatonia in FXS, can trigger a sympathetic surge, potentially inducing ventricular tachycardia. CASE SUMMARY: A 52-year-old man with FXS and catatonia developed recurrent wide complex tachycardia and cardiac arrest during ECT sessions, despite normal electrolytes, no structural heart disease, and a normal baseline electrocardiogram. The patient had recurrent cardiac arrest despite scheduled oral amiodarone 200 mg 3 times a day and premedication with 30 mg of esmolol. Pretreatment with a left stellate ganglion block and intravenous amiodarone infusion was considered before ECT sessions. DISCUSSION: FXS may increase susceptibility to arrhythmia owing to elevated sympathetic tone and channelopathies associated with fragile X mental retardation protein. ECT may amplify this risk, requiring proactive strategies. TAKE-HOME MESSAGES: Patients with FXS may require individualized pre-ECT risk assessment. Antiarrhythmic and sympathetic modulation strategies, including stellate ganglion block, may be essential for arrhythmia prevention in high-risk cases.

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28. Suprunowicz M, Bogucka J, Szczerbińska N, Modzelewski S, Oracz AJ, Konarzewska B, Waszkiewicz N. Neuroplasticity-Based Approaches to Sensory Processing Alterations in Autism Spectrum Disorder. Int J Mol Sci. 2025; 26(15).

Sensory dysregulation represents a core challenge in autism spectrum disorder (ASD), affecting perception, behavior, and adaptive functioning. The brain’s ability to reorganize, known as neuroplasticity, serves as the basic principle for therapeutic interventions targeting these deficits. Neuroanatomical mechanisms include altered connectivity in the sensory and visual cortices, as well as in the limbic system and amygdala, while imbalances of neurotransmitters, in particular glutamate and gamma-aminobutyric acid (GABA), contribute to atypical sensory processing. Traditional therapies used in sensory integration are based on the principles of neuroplasticity. Increasingly, new treatments use this knowledge, and modern therapies such as neurofeedback, transcranial stimulation, and immersive virtual environments are promising in modulating neuronal circuits. However, further research is needed to optimize interventions and confirm long-term effectiveness. This review discusses the role of neuroplasticity in the etiopathogenesis of sensory integration deficits in autism spectrum disorder. The neuroanatomical and neurotransmitter basis of impaired perception of sensory stimuli is considered, and traditional and recent therapies for sensory integration are discussed.

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29. Wilks CEH, Foster SJ, Dodd M, Fletcher-Watson S, Lages M, Ropar D, Sasson NJ, Crompton CJ. Visuospatial information transfer and task self-assessment within and between autistic and non-autistic adults. PLoS One. 2025; 20(8): e0329825.

Previous research has demonstrated that autistic people transmit verbal information as effectively as non-autistic people; however, when autistic and non-autistic people interact less information is transmitted. We tested whether these findings generalised to a task requiring the transmission of primarily visual information and examined how accurately participants self-assessed their performance. 310 adults (154 autistic) were allocated to one of three, six-person diffusion chain conditions: (i) autistic, (ii) non-autistic, (iii) mixed autistic and non-autistic. Participant 1 in each chain watched a video of an experimenter creating a dog shape from a puzzle toy that could be manipulated. Participant 1 showed Participant 2 how to make a dog shape, Participant 2 showed Participant 3, and so on until the end of the chain. Objective Performance was scored as the number of puzzle pieces in the correct location; self-assessment was measured on a 100-point scale, and the similarity of this self-assessment was calculated by comparing it to Objective Performance. Analyses indicated no difference in the amount of information transmitted between autistic, non-autistic, or mixed chains, or in self-assessment ratings and the similarity of these. Both autistic and non-autistic participants shared information with others and evaluated their performance similarly, aligning with previous work on the transmission of verbal information. However, the predicted breakdown in information sharing in the mixed chains did not occur. It is possible that a mismatch in neurotype may not impact information transmission that is less-verbal and more visuospatial. The heterogeneity of the sample may also have overshadowed any effect of neurotype.

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30. Yamada S, Kumoi H, Sasaki H, Nakagawa Y. Leap motion-based bimanual coordination analysis in schizophrenia and autism spectrum disorder. J Psychiatr Res. 2025; 190: 248-54.

Impairments in bimanual coordination have been reported in schizophrenia and autism spectrum disorder (ASD), yet their characteristics and specificity remain unclear. This study employed a Leap Motion Controller (LMC) to assess fine motor coordination in 24 patients with schizophrenia, 19 individuals with ASD, and 20 healthy controls (HCs) using a bimanual peg pinch task. Coordination was quantified through spatial symmetry and temporal phase locking (PLV) of index and thumb movements. Individuals with schizophrenia showed significant impairments in both spatial and temporal coordination compared to HCs, consistent with prior literature and supporting the notion that such motor deficits may reflect neurodevelopmental anomalies. In contrast, no significant group-level differences were found between the ASD and HC groups, although the ASD group exhibited reduced variability in spatial metrics (e.g., box length), suggesting subtle but consistent coordination irregularities. These findings may be attributable to the characteristics of the ASD sample-relatively high-functioning adults diagnosed in adolescence or adulthood-whose motor profiles and developmental experiences may differ from those diagnosed in early childhood. Importantly, the study implies that PLV may not sufficiently capture spatial asymmetries observed in ASD, while spatial metrics such as size asymmetry may offer better sensitivity. Future research should employ spatially sensitive tools and stratified sampling to better characterize motor profiles in ASD and in psychiatric conditions involving neurodevelopmental disruption, such as schizophrenia. Combined with advanced analytic methods, LMC-based assessment may contribute to noninvasive early detection and differential diagnosis across such conditions.

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