1. Henriksen MG, Nielsen KM, Mottron L, Nordgaard J. Autism in schizophrenia and its original link to self-disorder: returning a borrowed concept. Lancet Psychiatry;2025 (Jun 3)

Autism was introduced by Eugen Bleuler in 1910 as a defining feature of schizophrenia, and it remained so for 80 years. However, the concept was borrowed by Leo Kanner and Hans Asperger to describe another condition (infantile autism) and eventually awareness of autistic features in schizophrenia declined. Today, autistic features are by default considered indicative of autism spectrum disorder, and patients with schizophrenia, who exhibit autistic features, risk being misdiagnosed with autism spectrum disorder and receiving inadequate treatment. To aid differential diagnosis and treatment, it is important to rediscover what autism in schizophrenia is, and how it differs from autism spectrum disorder. We present a reading of the seminal works that shaped the understanding of autism in schizophrenia and extract four key insights: autistic features are common in schizophrenia; autistic features are found both in behaviours and experiences; autism in schizophrenia can be defined as a frail immersion in the lifeworld, manifesting as a pervasive inability to take for granted what others consider matter of fact; and autism is hypothesised to be caused by self-disorder. Contemporary psychopathological research corroborates the idea that autism is caused by self-disorder, a concept that could substantially aid differential diagnostic resources.

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2. Janicki MP, McCallion P, Jokinen N, Larsen FK, Service KP, Mughal DT, Watchman K, Gomiero T, Keller SM. Autism, Diagnostics, and Dementia: A Consensus Report From the 2nd International Summit on Intellectual Disabilities and Dementia. Int J Geriatr Psychiatry;2025 (Jun);40(6):e70110.

OBJECTIVES: The second International Summit on Intellectual Disability and Dementia, held in 2023, highlighted the unique challenges of diagnosing dementia in older autistic adults, particularly those with intellectual disabilities, due to the complex interplay of cognitive, communicative, and behavioral factors. This article addresses key diagnostic issues and post-diagnostic considerations for this population. METHOD: A consensus report was developed by the Summit’s Autism/Dementia Working Group through background reviews, expert discussions at the Summit, and iterative draft revisions, incorporating feedback from internal and external stakeholders. Key issues were extracted from the report and abridged for this manuscript. RESULTS: Diagnostic challenges stem from overlapping symptoms of co-occurring neurodevelopmental and psychiatric conditions, rendering standard dementia tools insufficient. Comprehensive evaluations tailored to autism-related traits, sensory sensitivities, and alternative communication methods are essential. Building diagnostic capacity among clinicians and fostering multidisciplinary collaboration are critical. Longitudinal assessments, initiated before dementia symptoms appear, facilitate early detection of subtle changes. Emerging biomarkers and neuroimaging techniques show promise and should be incorporated where feasible. Accommodations, such as virtual assessments in familiar settings, can enhance diagnostic accuracy by reducing anxiety. Creating transition processes from diagnostics to post-diagnostic supports will aid in mitigating challenges and enhance life quality when dementia is a factor. CONCLUSIONS: Research and clinician education are urgently needed to improve diagnostic approaches and streamline the transition from diagnosis to tailored post-diagnostic support. An integrated framework of comprehensive efforts is vital for our better understanding of age-associated neuropathological diagnostics and enabling long-term well-being of older autistic adults with dementia.

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3. Jia Q, Wang X, Li X, Li S, Wang M, Wang L, Ma B, Zhang M. Characteristic parameter analysis of magnetic resonance diffusion tensor imaging in children with autism spectrum disorder: a retrospective study. BMC Pediatr;2025 (Jun 7);25(1):464.

BACKGROUND: Magnetic resonance diffusion tensor imaging (DTI) has been widely used in research and clinical practice for neurological disorders, and plays an increasingly important role in the research of ASD. This study aimed to explore the parametric characteristics of DTI in children with ASD, which further may serve to guide the diagnosis. METHODS: Ninety children aged from 1 to 6 years old (male: female; 74:16) with ASD were selected to measure the parameters of fractional anisotropy (FA) and apparent diffusion coefficient (ADC) of the genu of corpus callosum, splenium of corpus callosum, frontal lobe, superior temporal gyrus in DTI. A 32-channel cranial nerve coil of a GE Signa HDxt 3.0T magnetic resonance system was used for the examination, and the FA and ADC maps were obtained by post-processing the DTI raw diffusion images with the Functool function software in the workstation. IBM SPSS 27.00 statistical software was used for statistical analysis. RESULTS: In ASD children, FA values for the genu of corpus callosum, splenium of corpus callosum, and superior temporal gyrus were higher on the right than on the left, and ADC values for the genu of corpus callosum, splenium of corpus callosum, frontal lobe, and superior temporal gyrus were lower on the right than on the left (P < 0.05). Grouped by sex, the female group had lower ADC values in the left splenium of corpus callosum and the right superior temporal gyrus than the male group (P < 0.05). Grouped by age, the left frontal lobe FA values were lower in the younger group (≤ 3 years old) than in the older group (>3 years old) (P < 0.05). CONCLUSION: Quantitative parameters of DTI show that autistic children have a markedly lateralized development of the brain, with the right side developing better than the left, sex and age also affect brain development in ASD children, resulting in different characteristic parameters in DTI, which may provide a reference for the diagnosis of ASD.

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4. Kaneda M, Sasaki G. The Relationship Between the Use of Speech-Generating Devices and Verbal Requests in Children with Autism Spectrum Disorder and Intellectual Disabilities. J Autism Dev Disord;2025 (Jun 7)

PURPOSE: This study aimed to investigate the effects of removing synthetic speech output from speech-generating devices (SGDs) and incorporating delayed reinforcement on verbal requests in children with autism spectrum disorder (ASD) and intellectual disabilities. Additionally, we examined how participants’ receptive and expressive language abilities influenced vocal requests by comparing items categorized as easier or more difficult to name based on pre-assessment results. METHODS: Three children with ASD and intellectual disabilities participated. An alternating treatment design was used to compare two conditions: (1) synthetic speech output with immediate reinforcement and (2) no synthetic speech output with delayed reinforcement. Preferred items were classified into two sets based on pre-assessed receptive and expressive language abilities. The dependent variable was the number of verbal and SGD-based requests. RESULTS: Results showed that verbal requests increased in the no synthetic speech output with delayed reinforcement condition across both item sets, while SGD-based requests remained high. Post-intervention language assessments indicated significant improvements in expressive language abilities. CONCLUSION: These findings suggest that removing synthetic speech output and incorporating delayed reinforcement may effectively promote vocal requests in children with ASD and intellectual disabilities. This intervention provides a novel approach to facilitate speech communication while continuing the use of AAC tools.

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5. Leguay K, Acevedo M, Colic E, Patel PU, Shamsi S, Chan HL, Sun S, Lang-Ouellette D, Chan B, Zhan X, Turner RW, Mancini J, Kent OA. Interactome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons. J Biol Chem;2025 (Jun 4):110341.

Therapeutic protein replacement has demonstrated pre-clinical and clinical efficacy in neurological disorders but has not been used clinically for Fragile X syndrome (FXS), a genetic neurodevelopmental disorder caused by loss of Fragile X messenger ribonucleoprotein (FMRP). FXS results from a triplet repeat expansion of over 200 CGG repeats in the 5′-UTR of the FMR1 gene leading to epigenetic silencing of FMRP. Currently, no clinically approved disease-modifying treatments for FXS exist. Recently, a tat-conjugated FMRP fragment encompassing residues 1-297 (FMRP N-tat) was shown to restore aspects of neuronal function in a mouse model of FXS. Promising in vivo data hinted to the therapeutic potential of FMRP N-tat. Herein, affinity purification mass spectrometry was used to identify the FMRP N-tat interactome in tsA-201 FMR1 knockout cells and FXS patient iPSC-derived neurons. The FMRP N-tat interactome included RNA binding proteins and constituents of the ribosome, which aligned closely with the known functions of FMRP. Further, the FMRP N-tat associated proteins included FXR2, STAU1, TRIM28, C1QBP, VDAC2, and several ribosomal proteins to regulate mRNA stability, cellular stress responses, mitochondrial function, and translation. The results highlight the potential of FMRP N-tat to orchestrate assembly of factors to correct lost function in FMRP deficient cells.

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6. Liu H, Wang S, Cao B, Zhu J, Huang Z, Li P, Zhang S, Liu X, Yu J, Huang Z, Lv L, Cai F, Liu W, Song Z, Liu Y, Pang T, Chang S, Chen Y, Chen J, Chen WX. Unraveling genetic risk contributions to nonverbal status in autism spectrum disorder probands. Behav Brain Funct;2025 (Jun 7);21(1):15.

Autism spectrum disorder (ASD) presents a wide range of cognitive and language impairments. In this study, we investigated the genetic basis of non-verbal status in ASD using a comprehensive genomic approach. We identified a novel common variant, rs1944180 in CNTN5, significantly associated with non-verbal status through family-based Transmission Disequilibrium Testing. Polygenic risk score (PRS) analysis further showed that higher ASD PRS was significantly linked to non-verbal status (p = 0.034), specific to ASD and not related to other conditions such as bipolar disorder, schizophrenia and three language-related traits. Using structural equation modeling (SEM), we found two causal SNPs, rs1247761 located in KCNMA1 and rs2524290 in RAB3IL1, linking ASD with language traits. The model indicated a unidirectional effect, with ASD driving language impairments. Additionally, de novo mutations (DNMs) were found to be related with ASD and interaction between common variants and DNMs significantly impacted non-verbal status (p = 0.038). Our findings also identified 5 high-risk ASD genes, and DNMs were enriched in glycosylation-related pathways. These results offer new insights into the genetic mechanisms underlying language deficits in ASD.

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7. Miao Y, Luo R, Lin F, Tong B, Yan J, Yang T, Sun Z, Li T, Xiao L, Chen J. Increasing indoxyl sulfate induces iNOS expression via aryl hydrocarbon receptor leading to microglia hyperactivation in the prefrontal cortex of autism-like offspring rats. Neurosci Lett;2025 (Jun 7);862:138298.

The abnormal indole metabolism is associated with the progression of Autism Spectrum Disorder (ASD). Indoxyl sulfate (IS), one of the active products of indole metabolism, still has an unknown role in ASD progression. This study investigates the role of IS/Aryl hydrocarbon receptor (AhR)/iNOS pathway in microglial activation in the prefrontal cortex (PFC) of ASD-like rats. Prenatal LPS-exposed induced autism-like behaviors offspring rats, concomitant with increased IS levels in the PFC. The levels of nuclear-AhR, IBA1, CD16 and iNOS proteins expression were increased in the PFC of LPS-exposed rats, whereas ARG1 protein expression level decreased, indicates microglia hyperactivation coupled with altered microglia morphology. ELISA analysis and further measure of synapses changes showed significantly increased inflammatory factors (TNF-α and IL-1β) and synaptic alterations. In vitro experiments demonstrated that IS treatment significantly upregulated the expression level of nuclear-AhR, enhanced microglia marker (IBA1, CD16 and iNOS) proteins and pro-inflammation factors levels (TNF-α and IL-1β), while concurrently reducing ARG1 protein expression and IL-10 levels in BV2 microglial cells. Moreover, the IS treatment significantly enhanced AhR enrichment in iNOS promoter region by chromatin immunoprecipitation and dual luciferase reporter assays, thereby significantly elevating the iNOS expression. However, the AhR-specific antagonist CH-223191 could block this activation and reverse the above proteins and inflammation factors changes. In a word, increased IS levels in the PFC of ASD-like offspring rats activate the AhR/iNOS pathway, driving microglial hyperresponsiveness and contributing to the development of ASD disease.

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8. Paulo JR, Sousa T, Perdiz J, Pereira L, Vasen M, Mouga S, Pires G, Castelo-Branco M. A Multimodal Dataset Addressing Motor Function in Autism. Sci Data;2025 (Jun 7);12(1):959.

Autism has primarily been characterized at a social-cognitive level, with evidence suggesting impairments in action-perception and motor function. However, there is a lack of publicly available datasets that specifically address the neural and behavioral mechanisms linking these functions in autism. The Move4AS dataset aims to fill this gap, having been designed to facilitate the study of the underlying mechanisms of motor function in the autism spectrum. It combines multiple data modalities, including electroencephalography (EEG) and 3D motion data, collected during motor imitation tasks – dancing and walking – designed to recruit motor function in emotional and social contexts. It comprises a control group of 20 participants and a clinical group of 14 participants. EEG was recorded through a 16-channel wireless EEG cap, and 3D motion was captured using marker-based motion capture suits tracked by a 10-camera setup. Additionally, the dataset includes neuropsychological characterization of the participants (IQ and autism score).

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9. Potter SN, Harvey D, Sterling A, Abbeduto L. The influence of parent and couple characteristics on parental responsivity during parent-child interactions in families of children with fragile X syndrome. Res Dev Disabil;2025 (Jun 4);164:105044.

BACKGROUND: Parents of children with fragile X syndrome (FXS) experience elevated levels of parenting stress due to the challenges associated with raising a child with significant disabilities. Biological mothers of children with FXS are at an increased genetic risk for experiencing mental health challenges. Parental mental health challenges and stress are often associated with reduced marital cohesion and satisfaction, which may spill over and negatively affect the parent-child relationship for both mothers and fathers. AIM: The current study examined relationships among characteristics of parents, characteristics of couples, and parent behavior (i.e., responsivity and behavior management) during mother-child and father-child dyadic interactions in 23 families of young boys with FXS. RESULTS: We found that mothers and fathers used similar rates of responsive behaviors, but that fathers used higher rates of behavior management strategies compared to mothers. Parenting stress predicted lower rates of parental responsivity and higher rates of behavior management, but these effects were only marginally significant. Couples satisfaction was not found to contribute to either parental responsivity or behavior management, despite the significant relationship between parenting stress and couples satisfaction. CONCLUSION: Overall, this study suggests that reducing parenting stress may lead to more responsive parent-child interactions, and equally so for both mothers and fathers.

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10. Shin MK, Son Y, Yon DK, Lee J. Potential gut-brain axis-targeted therapies for autism spectrum disorder in children: opportunities and challenges. World J Pediatr;2025 (May);21(5):447-467.

BACKGROUND: Autism spectrum disorder (ASD) lacks definitive treatment, but recent research has highlighted the potential of gut‒brain axis-targeted therapies for managing ASD symptoms in children. This review evaluated the effects of microbiota transplantation (MT), probiotics, dietary interventions, and nutritional supplements on ASD symptoms in children. DATA SOURCES: A systematic review was conducted via PubMed/MEDLINE, Scopus, and Web of Science to identify studies published up to June 2024. The inclusion criteria consisted of peer-reviewed articles encompassing both observational studies and interventional trials, and studies specifically targeted symptoms of ASD and included patients under the age of 18, with a minimum sample size of 20 participants. RESULTS: Of the 3424 identified studies, 31 met the inclusion criteria. MT emerged as the most consistently effective intervention, showing improvements across multiple symptom domains, including behavior and social interaction, particularly for individuals with severe gastrointestinal (GI) issues. Probiotics have reported strain-specific efficacy, with some studies reporting behavioral improvements, but the results have been inconsistent. Dietary interventions, such as gluten-free casein-free and modified Atkins diets, have shown partial efficacy, particularly for individuals with cooccurring GI symptoms, with adherence challenges and variability in outcomes. Nutritional supplements yielded mixed outcomes, highlighting the need for personalized approaches. Despite promising findings, significant heterogeneity in study protocols and outcome measures underscores the need for standardized methodologies. Future research should prioritize standardization of these protocols. Long-term studies and longitudinal designs can help increase the reliability and practicality. Precision strategies based on individual microbiota compositions and genomics could optimize outcomes. Combined therapies should undergo rigorous evaluation. Reliable markers could improve cost-effectiveness by targeting therapies to responders. Broader research populations, economic evaluations, new technologies and interdisciplinary research will contribute to achieving a broader application and better outcomes. CONCLUSIONS: This review emphasizes the potential of gut‒brain axis-targeted therapies to improve the quality of life of children with ASD and their families. MT showed the most consistent improvements in managing pediatric ASD symptoms, with probiotics, dietary interventions, and nutritional supplements offering additional, albeit variable benefits. Efforts should be made to standardize the protocols, to conduct long-term studies, and to explore cost-effective solutions to ensure accessibility, particularly in resource-limited settings.

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11. Siqueiros J, Holloway K, Lin ML, Neely L, Cordova A, Land W, Oyama S, Park SW. Influence of loud auditory noise on postural stability in autistic children: an exploratory study. Sci Rep;2025 (Jun 6);15(1):19882.

Autistic children often experience sensory processing challenges and postural instability. While auditory noise has been reported to improve balance in various populations, its effects in autistic children remain unclear. This study examined whether auditory noise could similarly influence balance in this population. Sixteen autistic and sixteen typically developing (TD) children aged 6-12 years performed a tandem stance task with and without auditory noise. Postural stability was assessed via stance duration and center of pressure (CoP) velocity. Sensory processing difficulties were evaluated using a parent-report questionnaire. Autistic children stood longer in the presence of auditory noise, while all TD children reached the maximum duration regardless of condition. A reduction in CoP velocity with auditory noise was observed across both groups. Although postural stability was correlated with sensory processing difficulties, the effect of auditory noise was not. These findings suggest that the beneficial effect of auditory noise on postural stability is applicable to autistic children, regardless of individual sensory processing profiles. This exploratory study highlights the potential of sensory-based interventions to support postural control in autism. Future research with larger samples is needed to confirm these findings and to identify the auditory stimulus characteristics that most effectively improve balance in autistic individuals.

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12. Watanabe T, Yamasue H. Noninvasive reduction of neural rigidity alters autistic behaviors in humans. Nat Neurosci;2025 (Jun);28(6):1348-1360.

Autistic behaviors correlate with reductions in specific brain-state transitions in global neural dynamics, implying that the mitigation of such rigid brain dynamics may alter autistic traits. To examine this possibility, we investigated longitudinal behavioral effects of state-dependent transcranial magnetic stimulation (TMS) in autistic adults. We found that excitatory TMS over the right parietal lobule decreased neural rigidity, which commensurately reduced social and nonsocial autistic behaviors. Specifically, TMS-induced neural flexibility immediately decreased cognitive inflexibility and slowly reduced overstable perception and atypical nonverbal communication. In particular, perceptual overstability was reduced after TMS-induced neural flexibility strengthened the coupling between the frontoparietal and visual networks, whereas atypical nonverbal communication became less explicit when the neural flexibility enhanced the coupling between the frontoparietal, default mode and salience networks. These results indicate that alteration of neural rigidity could change multiple autistic traits.

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13. Wen L, Wu Z. The impact of sensory integration based sports training on motor and social skill development in children with autism spectrum disorder. Sci Rep;2025 (Jun 6);15(1):19974.

Children with Autism Spectrum Disorder (ASD) often experience deficits in motor coordination, sensory processing, and social interaction, which hinder their participation in physical activities. While sensory integration-based interventions have shown promise, the specific impact of structured sports training incorporating sensory principles remains underexplored. This study evaluated the effects of a 12-week sensory integration-based sports training program on motor and social outcomes in children with ASD. Forty participants, aged 6-12, were randomly assigned to either an experimental group receiving sensory integration-based sports training or a control group engaged in standard physical activity. Motor coordination was assessed using the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2), and social responsiveness was measured using the Social Responsiveness Scale (SRS-2). Weekly behavioral engagement was also recorded. Data were analyzed using paired t-tests and Cohen’s d for effect size. Participants in the intervention group demonstrated a significant 17.2-point increase in BOT-2 scores, reflecting improved motor coordination. SRS-2 scores decreased by 13.2 points, indicating enhanced social responsiveness. Participation rates in structured activities increased from 45 to 85% over the 12 weeks. Statistical analysis revealed a large effect size (Cohen’s d > 0.8) for both outcomes. Sensory integration-based sports training significantly improves motor and social functioning in children with ASD and offers a promising approach for therapeutic and educational rehabilitation programs.

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14. Zou J, Maciejewski E, Ernst J. Genome-wide identification and analysis of recurring patterns of epigenetic variation across individuals. Commun Biol;2025 (Jun 7);8(1):888.

Epigenetic mapping studies across individuals have identified many positions of epigenetic variation across the human genome. However the relationships between these positions, and in particular global patterns that recur in many regions of the genome, remains understudied. In this study, we use a stacked chromatin state model to systematically learn global patterns of epigenetic variation across individuals and annotate the human genome based on them. We apply this framework to histone modification data across individuals in lymphoblastoid cell lines and across autism spectrum disorder cases and controls in prefrontal cortex tissue. We find that global patterns are correlated across multiple histone modifications and with gene expression. We use the global patterns as a framework to predict trans-regulators and study a complex disorder. The frameworks for identifying and analyzing global patterns of epigenetic variation are general and we expect will be useful in other systems.

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