Pubmed du 14/05/25

Pubmed du jour

1. Adachi M, Takahashi M, Mori H. Positive childhood experiences reduce suicide risk in Japanese youth with ASD and ADHD traits: a population-based study. Front Psychiatry. 2025; 16: 1566098.

OBJECTIVE: This study investigated the combined influence of autism spectrum disorder (ASD) traits, attention-deficit/hyperactivity disorder (ADHD) traits, and positive childhood experiences (PCEs) on suicide-related behaviors in a large, representative sample of Japanese adolescents and young adults. Additionally, it explored the role of PCEs in mitigating the risks associated with neurodivergent traits. METHODS: Data were collected from 5,000 individuals aged 16-25 years using validated scales to measure ASD traits, ADHD traits, PCEs, and suicide-related behaviors, including suicidal ideation and attempts. Hierarchical regression analysis was conducted in multiple steps to assess the influence of these variables. Interaction effects between PCEs and neurodivergent traits were examined to determine potential moderating effects. RESULTS: ASD traits and ADHD traits were positively associated with suicidal ideation, with the highest risks observed among individuals with elevated levels of both traits. The inclusion of PCEs demonstrated a significant negative association with suicidal ideation, indicating that individuals with more PCEs reported lower levels of suicidal ideation. PCEs also reduced the strength of the associations of ASD traits (from β = 0.180 to β = 0.092) and ADHD traits (from β = 0.216 to β = 0.185) with suicidal ideation. Interaction analyses showed that the protective effect of PCEs on suicidal ideation was particularly pronounced among individuals with high levels of ADHD traits. Simple slope analyses demonstrated that higher levels of PCEs were significantly associated with reduced suicidal ideation for those with both low (β = -0.339, z = -18.61, p < 0.001) and high levels of ADHD traits (β = -0.475, z = -21.84, p < 0.001), with a stronger effect for the latter group. CONCLUSION: These findings highlight the cumulative and potentially compounding effects of ASD and ADHD traits on suicide risk while underscoring the critical protective role of PCEs. PCEs can mitigate emotional dysregulation and impulsivity, particularly in individuals with high levels of ADHD traits, thus reducing suicide-related behaviors. This study underscores the importance of fostering PCEs as part of targeted interventions to promote resilience and mental health in vulnerable populations.

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2. Adamou M, Jones SL, Fullen T, Alty B, Ward J, Nixon Mills J. Enhancing Adult Autism Diagnostic Pathways: The Role of Clinical Triage in Efficient Service Provision. J Clin Med. 2025; 14(9).

Background: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition affecting 1.1% of adults. The increasing incidence of ASD has led to pressurised diagnostic services. Objective: We aimed to determine the number needed to harm (NNH) of criteria-informed triage assessment in an adult autism diagnostic service in the UK. Methods: The study was conducted at a specialist adult Autism Service in West Yorkshire, UK, from November 2021 to August 2022. All eligible referrals were accepted, with criteria requiring service users to be over 18 years old and without an intellectual disability. The evaluation consisted of 60 cases. Results: None of the evaluation cases resulted in a clinical diagnosis of ASD, yielding an infinite number needed to harm (NNH), demonstrating that every case benefited from the triage process without significant risk of harm. Conclusions: Triage enables services to gather comprehensive information about individual presentations and clinical needs, facilitating informed decision-making and better service utilisation. The evaluation demonstrates the safety and effectiveness of the triage process, with directions for further research discussed.

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3. Anding A, Ren B, Padmashri R, Burkovetskaya M, Dunaevsky A. Activity of human-specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome. bioRxiv. 2025.

Astrocytes, a subtype of glial cells, have multiple roles in regulating neuronal development and homeostasis. In addition to the typical mammalian astrocytes, in the primate cortex interlaminar astrocytes are located in the superficial layer and project long processes traversing multiple layers of the cerebral cortex. Previously, we described a human stem cell based chimeric mouse model where interlaminar astrocytes develop. Here, we utilized this model to study the calcium signaling properties of interlaminar astrocytes. To determine how interlaminar astrocytes could contribute to neurodevelopmental disorders, we generated a chimeric mouse model for Fragile X syndrome. We report that FXS interlaminar astrocytes exhibit hyperexcitable calcium signaling and are associated with dendritic spines with increased turnover rate.

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4. Andrade C. Autism Spectrum Disorder, 2: Observations on the Imprecision of the Numerical Value of Risk when Examining Predictors of Risk in Regression. J Clin Psychiatry. 2025; 86(2).

Hundreds of genes and more than a hundred environmental exposures have been identified as potential causes, mediators, or markers of risk for autism spectrum disorder (ASD). The findings for the environmental exposures, almost all occurring during pregnancy, have emerged from regression analyses in observational studies. The risk estimates are most often presented as odds ratios (ORs), sometimes as hazard ratios (HRs), and rarely as relative risks. This article uses gestational exposure to antidepressant drugs and risk of ASD in offspring as a background to explain how estimates of ASD risk in observational studies are commonly interpreted and why and when the usual interpretations are wrong, often very wrong. The article provides discussions on crude and adjusted estimates, ORs and HRs, individual studies and meta-analyses, strategies that help address confounding by unmeasured and unknown variables, and a detailed discussion on the imprecision of the numerical value of the adjusted estimate. The article explains how the value of an OR is not set in stone; different procedures and approaches in analysis of the same data result in different OR values. The article also explains how to evaluate an individual patient’s risk when multiple risk factors are present that may or may not be independent of each other. Finally, the article suggests the presence of an elephant in the room: risk factors that, though independent, may saturate mechanisms that mediate the outcome; so, when simultaneously present, their individual ORs may suggest falsely lower values of risk. This suggestion could explain why ASD is uncommon in the population although the risk factors for ASD are common and many. It is important to be aware of the issues considered in this article when attempting to understand the field, counsel patients, communicate research findings to peers and the public, and frame policy.

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5. Avram OE, Bratu EA, Curis C, Moroianu LA, Drima E. Modifiable Nutritional Biomarkers in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis of Vitamin D, B(12), and Homocysteine Exposure Spanning Prenatal Development Through Late Adolescence. Int J Mol Sci. 2025; 26(9).

Autism Spectrum Disorder (ASD) has been associated with disruptions in one-carbon metabolism and vitamin D pathways. Nutritional exposures-particularly vitamin D, vitamin B(12), and homocysteine-may influence neurodevelopmental outcomes. However, a comprehensive, lifespan-spanning synthesis of these modifiable nutritional biomarkers has not been conducted. This systematic review and stratified meta-analysis critically synthesized data on vitamin D, vitamin B(12), and homocysteine to elucidate their relationships with ASD risk and symptomatology. Our central question was: How do levels of vitamin D, vitamin B(12), and homocysteine-measured before and after birth-affect the risk, severity, and potential treatment outcomes for ASD? We conducted a PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) compliant systematic review and stratified meta-analysis (2015-2025) of 35 studies (11 randomized controlled trials, 24 observational), examining prenatal, neonatal, and postnatal biomarker levels. Eligibility criteria were defined using the PICOS (Population, Intervention, Comparator, Outcome, and Study Design) framework to ensure scientific rigor and clinical relevance, including studies involving human participants aged 0-18 years with a formal Autism Spectrum Disorder (ASD) diagnosis or prenatal exposures potentially linked to later ASD onset, while excluding animal studies, adult-only ASD populations, and studies lacking ASD cohorts or biomarker data. The search strategy, developed according to PRISMA, and Cochrane best practices, encompassed five major databases (PubMed/MEDLINE, Cochrane Library, Google Scholar, ClinicalTrials.gov, and ProQuest) alongside manual searches of key references, grey literature, and clinical trial registries to ensure comprehensive retrieval of both published and unpublished studies. Study quality was assessed using version 2 of the Cochrane risk-of-bias tool for RCTs (RoB2) and the Newcastle-Ottawa Scale (NOS) for observational studies; certainty of evidence was graded via GRADE (Grading of Recommendations Assessment, Development and Evaluation). Random-effects meta-analyses were stratified by biomarker and study design. Heterogeneity, small-study effects, and publication bias were evaluated using Cochran’s Q, I(2), Egger’s test, and trim-and-fill. Prenatal vitamin D deficiency was associated with approximately two-fold increased odds of Autism Spectrum Disorder (ASD) in offspring (pooled OR ≈ 2.0; p < 0.05), while excessively elevated maternal B(12) concentrations, often co-occurring with folate excess, were similarly linked to increased ASD risk. Meta-analytic comparisons revealed significantly lower circulating vitamin D (SMD ≈ -1.0; p < 0.001) and B(12) levels (SMD ≈ -0.7; p < 0.001), alongside elevated homocysteine (SMD ≈ 0.7; p < 0.001), in children with ASD versus neurotypical controls. Early-life vitamin D/B(12) insufficiency and elevated homocysteine are important, modifiable correlates of ASD risk and severity. Adequate maternal and child nutritional status could have risk-reducing and symptom-mitigating effects, although causality remains to be confirmed. This evidence supports tailored nutritional interventions as a component of ASD risk reduction and management strategies, within the bounds of overall developmental healthcare. The article processing charges (APC) were supported by "Dunărea de Jos" University of Galati, Romania. No external funding was received for the execution of the research. The review was not prospectively registered in PROSPERO or any other systematic review registry.

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6. Başaran AS, Türkel NN, Koparal B, Kuruoğlu A. Exploring the role of autistic traits in treatment-resistant and clozapine-resistant schizophrenia: a comparative study. Front Psychiatry. 2025; 16: 1541469.

BACKGROUND: Treatment resistance in schizophrenia is a major clinical challenge. While autistic traits are often more pronounced in patients with treatment-resistant schizophrenia (TRS), limited data exist on clozapine-resistant schizophrenia (CRS). This study aims to explore the relationship between autistic traits and treatment resistance in schizophrenia, with a focus on both TRS and CRS and to evaluate whether these traits could predict treatment outcomes. METHODS: A total of 86 patients were included, divided into three groups: non-treatment-resistant schizophrenia (NRS, n=37), treatment-resistant schizophrenia (TRS, n=26), and clozapine-resistant schizophrenia (CRS, n=23). Psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS), while autistic traits were measured with the PANSS Autism Severity Scale (PAUSS) and the Autism Spectrum Quotient (AQ). Multinomial logistic regression models were used to determine the predictive value of autistic traits for TRS and CRS. RESULTS: Statistically significant differences were identified between the groups in PAUSS (p<0.001) and AQ (p<0.001) scores, indicating variations in autistic traits. PAUSS scores were predictive of TRS and CRS relative to NRS but did not differ between TRS and CRS. In contrast, AQ scores showed significant differences between TRS and CRS. Both PAUSS and AQ were negatively correlated with functionality as measured by the Global Assessment of Functioning, highlighting the impact of autistic traits on daily functioning. CONCLUSIONS: The results indicate that autistic traits are associated with resistance to treatment, as PAUSS scores are predictive of the development of treatment-resistant and clozapine-resistant schizophrenia. However, the lack of statistically significant differences between TRS and CRS in PAUSS scores suggests that clozapine resistance may be influenced by additional factors beyond the autistic traits measured by PAUSS. To better understand the relationship between clozapine resistance and autistic traits, future research should not only focus on the autistic traits captured by PAUSS but also consider broader autism phenotypes or other distinct psychopathological processes. Such studies could offer deeper insights into the complex mechanisms that drive clozapine resistance and help identify new paths for treatment and intervention.

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7. Cardoso MM, Riesgo RDS, Sleifer P. Auditory Brainstem Response Findings in Children with Level 1 Autism Spectrum Disorder: A Comparative Study. Int Arch Otorhinolaryngol. 2025; 29(2): 1-7.

Introduction  Autism spectrum disorder is a pervasive developmental disorder characterized by deficits in communication and social interactions, as well as repetitive behavioral patterns. Understanding the relationship between auditory brainstem response and hearing is crucial, considering the importance of sensory function. Auditory brainstem response testing is a tool that evaluates the auditory system from periphery to brainstem in response to an acoustic stimulus, providing important information about the auditory pathways. Objective  To compare auditory brainstem response findings in children with autism spectrum disorder versus those of a control group. Methods  Cross-sectional, comparative study of 23 children (age 7-10 years) diagnosed with autism spectrum disorder and an age- and sex-matched control group of normal-hearing children with typical development. All participants underwent otoscopy, impedance audiometry, pure-tone audiometry, speech audiometry, and brainstem evoked response audiometry. Results  Statistically significant between-group differences were seen on comparison of the absolute latencies of waves III ( p  = 0.047) and V ( p  = 0.034), as well as interpeak intervals III to V ( p  = 0.048) and I to V ( p  = 0.036), with increased values in the study group. The sample was composed of 8.7% females and 91.3% males. Conclusion  In this sample, children with autism spectrum disorder showed increased auditory brainstem response latencies compared to the control group, suggesting auditory pathway impairment.

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8. Caron C, McCullagh EA, Bertolin G. Sex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome. Open Biol. 2025; 15(5): 240384.

Sound sensitivity is a common sensory complaint for people with autism spectrum disorder (ASD). How and why sounds are perceived as overwhelming by affected people is unknown. To process sound information properly, the brain requires high activity and fast processing, as seen in areas like the medial nucleus of the trapezoid body (MNTB) of the auditory brainstem. Recent work has shown dysfunction in mitochondria in a genetic model of ASD, Fragile X Syndrome (FXS). Whether mitochondrial functions are also altered in sound-processing neurons has not been characterized yet. To address this question, we imaged MNTB in a mouse model of FXS. We stained MNTB brain slices from wild-type and FXS mice with two mitochondrial markers, TOMM20 and PMPCB, located on the outer mitochondrial membrane and in the matrix, respectively. Our imaging reveals significant sex-specific differences between genotypes. Colocalization analyses between TOMM20 and PMPCB show that the integrity of mitochondrial subcompartments is most disrupted in female FXS mice compared with female wild-type mice. We highlight a quantitative fluorescence microscopy pipeline to monitor mitochondrial functions in the MNTB from control or FXS mice and provide four complementary readouts, paving the way to understanding how cellular mechanisms important to sound encoding are altered in ASD.

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9. Carpita B, Nardi B, Pronestì C, Cerofolini G, Filidei M, Bonelli C, Massimetti G, Cremone IM, Pini S, Dell’Osso L. The Mediating Role of Social Camouflaging on the Relationship Between Autistic Traits and Orthorexic Symptoms. Brain Sci. 2025; 15(5).

Background/Objectives: Recent lifestyle and dietary changes, driven by health awareness and ecological concerns, have led to the rise in numerous type of diets, which can promote well-being but may also contribute to Orthorexia Nervosa (ON), which have been suggested to be linked to autism spectrum disorder. This study aimed to explore the relationship between autistic traits, social camouflaging, and orthorexic tendencies in female university students, focusing on how these factors intersect with specific dietary habits. Methods: 554 female students were recruited via an online survey and assessed with the Adult Autism Subthreshold (AdAS) Spectrum, the Camouflaging Autistic Traits Questionnaire (CAT-Q), and the ORTO-R. Participants were categorized into four groups based on AdAS Spectrum and CAT-Q quartiles. Results: Vegans and vegetarians exhibited higher orthorexic tendencies and specific autistic traits. High scorers on the AdAS Spectrum and CAT-Q also showed higher ORTO-R scores, with both AdAS Spectrum and CAT-Q total scores, as well as certain domains, serving as significant positive predictors of higher ORTO-R scores. Notably, the AdAS Spectrum total score had a significant direct and indirect effect (through the CAT-Q) on the ORTO-R total score. Conclusions: The study found significant associations between autistic traits, social camouflaging behaviors, and orthorexic tendencies in female university students. These findings suggest that the strict dietary behaviors and rigid thinking characteristic of orthorexia may be influenced by underlying autistic features, highlighting the need for further research into the intersection of autism and eating disorders.

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10. Chang Z, Yao H, Sun S, Zhang L, Liu S, Brikell I, D’Onofrio BM, Larsson H, Lichtenstein P, Kuja-Halkola R, Hägg S, Happé F, Taylor MJ. Association between autism and dementia across generations: evidence from a family study of the Swedish population. Mol Psychiatry. 2025.

There is emerging evidence to suggest that autistic individuals are at an increased risk for cognitive decline or dementia. It is unknown whether this association is due to shared familial influences between autism and dementia. The main purpose of this study was, thus, to investigate the risk of dementia in relatives of autistic individuals. We conducted a family study based on linking Swedish registers. We identified all individuals born in Sweden from 1980-2013, followed until 2020, and clinical diagnoses of autism among these individuals. We linked these index individuals with their parents, grandparents, and aunts/uncles. The risk of dementia (including any type of dementia, Alzheimer’s disease, and other types of dementia) in relatives of autistic individuals was estimated using Cox proportional hazards models. Analyses were then stratified by sex of the relatives and intellectual disability in autistic individuals. Relatives of autistic individuals were at an increased risk of dementia. The risk was strongest in parents (hazards ratio [HR] = 1.36, 95% confidence intervals = 1.25-1.49), and weaker in grandparents (HR = 1.08, 1.06-1.10) and aunts/uncles (HR = 1.15, 0.96-1.38). Furthermore, there were indications of a stronger association between autism in index individuals and dementia in mothers (HR = 1.51, 1.29-1.77) compared to dementia in fathers (HR = 1.30, 1.16-1.45). There was only a small difference in relatives of autistic individuals with and without intellectual disability. Our results provide evidence of familial co-aggregation between autism and different types of dementia, and a potential genetic link. Future research now needs to clarify the risk of dementia in autistic individuals.

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11. Crompton CJ, Foster SJ, Wilks CEH, Dodd M, Efthimiou TN, Ropar D, Sasson NJ, Lages M, Fletcher-Watson S. Information transfer within and between autistic and non-autistic people. Nat Hum Behav. 2025.

Autism is clinically defined by social communication deficits, suggesting that autistic people may be less effective at sharing information, particularly with one another. However, recent research indicates that neurotype mismatches, rather than autism itself, degrade information sharing. Here, using the diffusion chain method, we examined information transfer in autistic, non-autistic and mixed-neurotype chains (N = 311), replicating and extending a key study. We hypothesized that information transfer would deteriorate faster and rapport would be lower in mixed-neurotype compared with single-neurotype chains. Additionally, we examined whether informing participants of the diagnostic status of their chain and whether information was fictional or factual impacted performance and rapport. We found no difference in information transfer between single-neurotype and mixed-neurotype chains. Non-autistic chains indicated higher rapport, and disclosing diagnosis improved rapport. This result challenges assumptions about autistic communication deficits but contrasts with prior findings. Enhanced participant heterogeneity and methodological differences may explain these unexpected results. Protocol registration The Stage 1 protocol for this Registered Report was accepted in principle on 23 August 2022. The protocol, as accepted by the journal, can be found at https://osf.io/us9c7/ .

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12. Dias C, Sousa T, Cruz A, Costa D, Mouga S, Castelhano J, Pires G, Castelo-Branco M. A role for preparatory midfrontal theta in autism as revealed by a high executive load brain-computer interface reverse spelling task. Sci Rep. 2025; 15(1): 16671.

Midfrontal theta oscillations have been linked to executive function, yet their role in autism-where this function is often compromised-remains unclear. We hypothesized that preparatory increases in theta power may help normalize performance in autism. To test this, we used a challenging interactive executive function task designed to impose a high working memory load and require constant error monitoring. An electroencephalogram (EEG)-based brain-computer interface (BCI) was used to maximize cognitive load and engagement. Neural activity from autistic and non-autistic adults was compared while participants were asked to mentally reverse pseudowords (engaging working memory) and write them using the BCI, which provided real-time performance feedback (maximizing error monitoring). The study focused on theta power modulation during the preparatory (pre-response) and feedback (post-response) periods but also explored the role of posterior alpha oscillations. Results showed similar task performance between groups, but distinct recruitment of brain resources, particularly during the preparatory period. The finding of an increased preparatory theta in autism favors the hypothesis of compensatory recruitment of cognitive control and attentional mechanisms to achieve accurate results.

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13. Ding F, Pan J, Ji S, Zhang Y, Hou J, Shi N, Liu H. Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family. Front Pediatr. 2025; 13: 1557103.

BACKGROUND: Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) has been implicated in the pathogenesis of neurodevelopmental disorders, including Parkinson’s disease, seizures, intellectual disability, dystonia, and congenital disorder of glycosylation. To this day, there have been limited studies and reports on the NUS1 gene. METHODS: We described the case of an 8-year-old Chinese boy exhibiting developmental delay, intellectual disability, and autism spectrum disorder (ASD). To elucidate the genetic etiology, whole-exome sequencing was performed on the proband. A candidate variant was subsequently validated by Sanger sequencing in the proband and his unaffected parents. RESULTS: Whole-exome sequencing analysis discovered a novel heterozygous variant (c.279del, p.L94Wfs*11) on exon 1 of NUS1 (NM_138459.5), leading to premature termination of protein translation (p.L94Wfs*11). Sanger sequencing failed to identify the candidate variant in his unaffected parents. Following the updated American College of Medical Genetics and Genomics guidelines, the c.279del variant was classified as pathogenic (PVS1+PM6+PM2_Supporting). Based on the clinical phenotype of the proband, he was diagnosed with autosomal dominant intellectual developmental disorder-55 with seizures (MRD55) and ASD. CONCLUSIONS: This study expands the phenotype and mutation spectrum of the NUS1 gene, which contributes to the diagnosis of related disorders. Furthermore, the identification of the genetic basis of the proband and confirmation of the corresponding loci of his family members will facilitate the genetic counseling of the proband’s parents regarding reproduction.

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14. Du Y, Yang X, Wang M, Lv Q, Zhou H, Sang G. Longitudinal changes in children with autism spectrum disorder receiving applied behavior analysis or early start denver model interventions over six months. Front Pediatr. 2025; 13: 1546001.

BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication difficulties, restricted interests, repetitive behaviors, and sensory abnormalities. The rising prevalence of ASD presents a significant public health concern, with no pharmacological treatments available for its core symptoms. Therefore, early and effective behavioral interventions are crucial to improving developmental outcomes for children with ASD. Current interventions primarily focus on educational rehabilitation methods, including Applied behavior Analysis (ABA) and the Early Start Denver Model (ESDM). OBJECTIVE: This study aims to examine the developmental changes in children with ASD following six months of ABA therapy or ESDM intervention. METHODS: From December 2021 to December 2023, 30 children receiving ABA therapy at the Zhejiang Rehabilitation Medical Center (40 min/session, 4 sessions/day, 5 days/week), while another 30 children undergoing ESDM training at Hangzhou Children’s Hospital (2 h of one-on-one sessions and 0.5 h of group sessions/day, 5 days/week). Both groups participated in their respective interventions for six months. Pre- and post-treatment assessments were conducted using the Psycho-educational Profile-Third Edition (PEP-3). RESULTS: Both groups showed significant improvements in PEP-3 scores post-treatment, including cognitive verbal/pre-verbal, expressive language, receptive language, social reciprocity, small muscles, imitation, emotional expression, and verbal and nonverbal behavioral characteristics. CONCLUSION: Both ABA and ESDM interventions were associated with comprehensive improvements in children with ASD over a six-month period.

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15. Esfahan SM, Sepahi N, Rezayat E. How autism impacts children’s working memory for faces. J Clin Exp Neuropsychol. 2025: 1-9.

This study investigates visual working memory (WM) performance in children aged 7-12 years with Autism Spectrum Disorder (ASD) compared to typically developing (TD) peers, focusing on face stimuli to evaluate social-relevant memory processing. The research aims to identify differences in visual WM functioning and determine whether errors in recall stem from reduced precision or increased random guessing. Participants completed a visual WM task requiring them to memorize and reproduce the orientations of faces presented on a screen. Results demonstrated that children with ASD exhibited significantly poorer overall visual WM accuracy than TD children. A fine-grained analysis of error patterns revealed that the ASD group showed markedly lower precision in recalling spatial details of the stimuli, indicating less stable or detailed memory representations. However, rates of random guessing-a measure of attentional lapses or task disengagement-did not differ significantly between groups. These findings underscore that visual WM deficits in ASD are primarily driven by reduced precision rather than fluctuations in attention or motivation. The study highlights the importance of precision-based mechanisms in understanding atypical cognitive profiles in ASD, offering insights into potential interventions targeting memory consolidation or perceptual encoding strategies to enhance functional outcomes. By isolating precision as a key deficit, this work advances theoretical models of visual WM and informs tailored approaches to support memory-related challenges in ASD.

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16. Hassib L, Kanashiro A, Pedrazzi JFC, Vercesi BF, Higa S, Arruda Í, Soares Y, de Jesus de Souza A, Barichello T, Guimarães FS, Ferreira FR. Microbiota-based therapies as novel targets for autism spectrum disorder: A systematic review and meta-analysis. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 139: 111385.

BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social interaction and communication. Emerging evidence suggests that alterations in the gut-brain axis play a key role in the pathophysiology of ASD, and that microbiota-targeted interventions may offer therapeutic benefits. However, no clear consensus has been reached regarding the effectiveness of these strategies in ameliorating behavioral characteristics. This systematic review and meta-analysis (PROSPERO registration ID: CRD42023494067) aimed to evaluate the impact of microbiota-based interventions-including synbiotics, prebiotics, single-strain probiotics, probiotic blends, and fecal microbiota transplantation (FMT)-on behavioral outcomes in individuals with ASD, with particular emphasis on social functioning. RESULTS: Of the 373 records initially identified, 20 studies met the inclusion criteria, comprising 16 randomized controlled trials and 4 open-label studies. The overall effect size indicated a statistically significant improvement in ASD-related behavioral symptoms following microbiota manipulation (Hedges’ g = 0.47; 95 % CI: 0.30-0.64; p < 0.001; I(2) = 33.01 %), representing a small but clinically relevant effect. Heterogeneity was classified as moderate. Among the interventions, FMT and probiotic blends yielded the most substantial effects. All major limitations of the current studies were thoroughly addressed and discussed to guide future experimental designs. Additionally, we examined preclinical evidence supporting the involvement of neural, immune, and metabolic pathways in mediating the observed behavioral improvements. CONCLUSIONS: Our findings support the potential of microbiota-based therapies as a promising and well-tolerated strategy for improving behavioral symptoms in individuals with ASD. FMT and multi-strain probiotic formulations appear particularly effective. Nevertheless, further high-quality randomized controlled trials-especially involving FMT-are urgently needed to validate these results and guide clinical implementation. Thus, these findings provide a critical foundation for future investigations seeking to refine microbiota-based interventions and uncover the underlying mechanisms through which they influence ASD-related behaviors.

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17. Hermann H, Witte AM, Pöhlmann A, Sterkenburg PS, Sappok T. Comparing Emotional Development in Persons With Intellectual Disability With and Without Autism Spectrum Disorder. J Intellect Disabil Res. 2025.

BACKGROUND: Intellectual disability (ID) often co-occurs with autism spectrum disorder (ASD). To better understand the needs of persons with ID/ASD, level of emotional development (ED) can be determined with the Scale of Emotional Development-Short (SED-S). This preregistered study examined differences in ED by comparing total, domain, and item scores between people with ID/ASD and people with ID. METHODS: One hundred seventy-four participants with ID/ASD were matched to 174 participants with ID only. Informants reported on the SED-S, which includes 200 yes-no items grouped into eight domains, with each domain including five stages of ED. RESULTS: The ID/ASD group showed lower total scores (M = 2.19, SD = 0.97) compared with the ID group (M = 2.86, SD = 1.11). They also showed lower scores in all eight domains. When groups were compared based on total scores, people with ID/ASD in SED-S 2 scored lower in the domain Affect, while those in SED-S 3 scored lower in the domains Affect, Communication, and Peers compared with people with ID in the same stage. People with ID/ASD in SED-S 4 scored higher in the domain Peers compared with people with ID in the same stage. There was an uneven distribution of ‘yes’ responses, significant differences in ‘yes’ responses to 27 items, and a lower mean frequency of ‘yes’ responses from people with ID/ASD. CONCLUSIONS: Although this study was largely exploratory and warrants replication, results provide an important next step towards a better understanding of the emotional needs and behaviours of people with ID/ASD.

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18. Hundle A, Atkins S, McAnenny S, Rashid N, Dalton CL. Multidisciplinary Team Otology Clinics Dedicated to Adult Patients With Learning Disabilities and/or Autism Spectrum Disorder: A Quality Improvement Project. Clin Otolaryngol. 2025.

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19. Kemecsei RG, Dániel-Papp S, Balazs DB, Ghebrihiwet Tewelde E, Csillag A, Zachar G. Disrupted functional connectome in a rodent model of autism during social isolation. Front Neural Circuits. 2025; 19: 1525130.

Autism spectrum disorder (ASD) is associated with disruptions in social behavior and the neural circuitry behind it. Very little data is available on the mechanisms that are responsible for the lack of motivation to reunite with conspecifics during isolation. It is as important to investigate the neural changes that reduce motivation to end social isolation, as those underlying the reactions to social stimuli. Using a rodent model of prenatal valproic acid (VPA) exposure, we investigated how social isolation affects the neural activation of key brain nuclei involved in social processing and stress regulation. Juvenile male C57BL/6 mice were treated prenatally with VPA or saline (CTR) and subjected to 24 h of social isolation from their cage mates, with neural activity assessed via c-Fos immunohistochemistry. Based on correlational activations we reconstructed and analyzed the functional connectome of the observed brain regions. Control animals exhibited elevated c-Fos expression in the regions central to the mesolimbic reward system (MRS), social brain network (SBN), and stress-related networks, with the interpeduncular nucleus (IPN) at the core, compared to VPA-treated animals. Functional network analysis revealed a more widespread but less specific pattern of connectivity in VPA-treated animals. These findings suggest that prenatal VPA exposure disrupts certain neural circuits related to social behavior and stress regulation, offering an insight into the altered perception of social isolation in ASD models, and highlighting potential therapeutic targets.

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20. Liu M, Luo Y, Bai X, Wang Y, Hu X, Sun M, Qu L, Han X, Zhao H, Lu H, Liu Q. Expressive Vocabulary in Mandarin-Speaking Autistic, Developmentally Delayed, and Typically Developing Children: A Cross-sectional Study. J Autism Dev Disord. 2025.

PURPOSE: Research investigating the characteristics of expressive vocabulary in children with autism spectrum disorder (ASD) is limited, particularly in cross-linguistic contexts. This study aimed to systematically identify the characteristics of expressive vocabulary in 3- to 6-year-old Mandarin-speaking children with ASD. METHODS: We analyzed 10-min spontaneous language samples from parent-child free play sessions involving 21 children with ASD, 18 developmentally matched children with developmental delay (DD), and 15 chronologically age-matched typically developing (TD) children. The analysis was based on the grammatical characteristics of Mandarin. RESULTS: All three groups demonstrated a preference for verbs. Children in the ASD group showed a significantly lower number of tokens and types than those in the TD group in 11 content word categories and five function word categories. The ASD group exhibited greater similarities with the DD group in most vocabulary categories regarding the number of tokens, types, and type-to-token ratio (TTR) but still displayed subtle differences. Notably, the ASD group had a significantly higher total TTR than the TD and DD groups. The number of types of common nouns, number of tokens of pronouns were significantly lower in the ASD group than in the DD group. CONCLUSION: These preliminary findings suggest that the language development of TD children is reflected in standardized tests and vocabulary expression in spontaneous language samples compared to children with ASD. Additionally, the qualitative differences in expressive vocabulary between the DD and ASD groups indicate that children with ASD may exhibit atypical vocabulary learning mechanisms.

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21. Liu Y, Cai K, Qi K, Xiong X, Sun Z, Shi Y, Chen A. The Effects of a Ball Combination Training Program Combined with a Continuous Theta Burst Stimulation Intervention on Eating Behaviors in Autistic Children with Accompanying Intellectual Disabilities: A Preliminary Study. Nutrients. 2025; 17(9).

Background: Eating behavior problems significantly affect the physical health and quality of life of children with autism spectrum disorder and intellectual disabilities (co-occurring ASD/ID). This study aimed to evaluate the effects of a 12-week Ball Combination Training Program (BCTP), continuous theta burst stimulation (cTBS), and an intervention combining both (in the CIG) on the eating behaviors of children with co-occurring ASD/ID. Methods: A total of 48 participants were assigned into one of four groups: the BCTP (n = 13), cTBS (n = 12), the CIG (n = 11), and a control group (n = 12). The intervention groups received their respective treatments in addition to the routine institutional rehabilitation, whereas the control group only received the standard institutional rehabilitation. The intervention outcomes were assessed using the parent-reported Children’s Eating Behavior Questionnaire (CEBQ). Results: The results indicated that all three intervention methods led to improvements in their eating behavior after 12 weeks. Specifically, the BCTP group and the CIG demonstrated significantly reduced Food Fussiness behavior, while the children’s Enjoyment of Food was markedly enhanced in the cTBS group and the CIG. Furthermore, the CIG experienced a particularly notable effect in terms of the improvement in the Satiety Responsiveness dimension of their eating behavior. Among the three approaches, the CIG demonstrated a clear advantage over the single interventions in terms of both the breadth and magnitude of its improvements. Conclusions: This study confirmed the effectiveness of these three intervention strategies in addressing dietary behavior problems among children with co-occurring ASD/ID. Future research should focus on exploring the combined intervention approach further, particularly its potential synergy, while delving deeper into the neural mechanisms underlying these behavioral improvements.

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22. Liu Y, Whitfield TW, Bell GW, Guo R, Flamier A, Young RA, Jaenisch R. Exploring the complexity of MECP2 function in Rett syndrome. Nat Rev Neurosci. 2025.

Rett syndrome (RTT) is a neurodevelopmental disorder that is mainly caused by mutations in the methyl-DNA-binding protein MECP2. MECP2 is an important epigenetic regulator that plays a pivotal role in neuronal gene regulation, where it has been reported to function as both a repressor and an activator. Despite extensive efforts in mechanistic studies over the past two decades, a clear consensus on how MECP2 dysfunction impacts molecular mechanisms and contributes to disease progression has not been reached. Here, we review recent insights from epigenomic, transcriptomic and proteomic studies that advance our understanding of MECP2 as an interacting hub for DNA, RNA and transcription factors, orchestrating diverse processes that are crucial for neuronal function. By discussing findings from different model systems, we identify crucial epigenetic details and cofactor interactions, enriching our understanding of the multifaceted roles of MECP2 in transcriptional regulation and chromatin structure. These mechanistic insights offer potential avenues for rational therapeutic design for RTT.

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23. Maleki A, Behmanesh H, Jenabi E. The Association between Prenatal Antibiotic Use and the Risk of Autism Spectrum Disorders among Children: An Updated Meta-Analysis. Curr Pediatr Rev. 2025.

OBJECTIVE: Studies on prenatal antibiotic use and Autism Spectrum Disorder (ASD) risk have yielded inconsistent results. AIM: This study aimed to resolve these discrepancies by conducting a meta-analysis on the relationship between prenatal antibiotic use and ASD in children. METHOD: A comprehensive search was conducted in three main databases: PubMed, Scopus, and Web of Science, up to August 1, 2024. The analysis employed random-effect models to estimate effect sizes, including hazard ratios (HR) and odds ratios (OR). Publication bias was assessed using Begg’s test and Egger’s regression test. Subgroup analyses explored variations in the association based on the trimester of pregnancy. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS). RESULTS: In this meta-analysis, which included twelve studies with a total population of 5,065,060, prenatal antibiotic use was associated with an increased risk of Autism Spectrum Disorder (ASD). The estimated HR for this risk was 1.08 (95% CI: 1.05, 1.12), and the OR was 1.16 (95% CI: 1.09, 1.23), with no detected heterogeneity among studies. The analysis found no publication bias. Significant associations were observed for each trimester: first trimester (HR: 1.11; 95% CI: 1.04, 1.18), second trimester (HR: 1.10; 95% CI: 1.06, 1.14), and third trimester (HR: 1.09; 95% CI: 1.01, 1.18). CONCLUSION: The analysis reveals a significant link between prenatal antibiotic use and an increased risk of ASD, with a consistently modest elevation in risk across all trimesters. Future research should focus on elucidating the mechanisms underlying this association by examining the effects of specific antibiotic classes, dosages, and timing during critical developmental periods. Longitudinal studies with comprehensive control for confounding factors are essential for strengthening causal inferences and guiding clinical recommendations regarding antibiotic use during pregnancy.

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24. Pal A, Goel F, Garg VK. From Genetics to Function: the Role of ABCA12 in Autism Neurobiology. J Mol Neurosci. 2025; 75(2): 67.

ASD is a complex neurodevelopmental disorder with genetic, environmental, and molecular roots. Among the thousands of genes that have been associated with ASD, one critical factor has emerged as ABCA12, which plays an important role in lipid transport and metabolism. Traditionally, it has been related to skin disorders but has only recently been implicated in broader brain development and function. Some of the implicated effects include dysregulated lipid homeostasis, neuroinflammation, oxidative stress, and abnormalities in synaptic when the ABCA12 system is dysregulated. All the above processes are related to pathology in ASD. In this review, the emerging function of ABCA12 in autism neurobiology has been discussed; the core base is derived from in vivo models and preclinical studies. In vivo models such as mice and zebrafish that, in the previous studies had earlier shown impairments of ABCA12 which results in social deficiency behaviors but also perform repetitive actions. Based on the effects of the gene on molecular pathways, including neuronal signalling and membrane integrity, and identifying therapeutic approaches targeting ABCA12 or its downstream effects, preclinical studies have contributed to the integration of genetic, functional, and therapeutic perspectives for understanding the contribution of ABCA12 to ASD. These findings may unlock further investigations geared toward unravelling how lipid metabolism intricately influences neurodevelopment with regards to interventions available for use in ASD.

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25. Paracuellos-Ayala I, Caruana G, Reyes Ortega MM, Hagerman RJ, Wang JY, Rodriguez-Revenga L, Elias-Mas A. Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology. Int J Mol Sci. 2025; 26(9).

The cerebellar peduncles (CPs) contain essential pathways connecting the cerebellum and other regions of the central nervous system, yet their role is often overlooked in daily medical practice. Individuals with the FMR1 premutation are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. The major clinical and radiological signs of FXTAS are cerebellar gait ataxia, intention tremor, and T2-weighted MRI hyperintensity of the middle cerebellar peduncle (MCP sign). Over the years, metabolic and structural abnormalities have also been described in the CPs of FMR1 premutation carriers, with some being associated with CGG repeat length and FMR1 mRNA levels. Evidence seems to associate the clinical disfunction observed in FXTAS with MCP abnormalities. However, other tracts within the different CPs may also contribute to the symptoms observed in FXTAS. By integrating imaging and pathological data, this review looks to enhance the understanding of the functional anatomy of the CPs and their involvement in different pathological entities, with special interest in premutation carriers and FXTAS. This review, therefore, aims to provide accessible knowledge on the subject of the CPs and their functional anatomy through detailed diagrams, offering a clearer understanding of their role in FMR1 premutation.

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26. Pu Y, Li F, Zhu T, Li J, Zhou W, Zhang L, Chen J, Zhang Q, Ren T, Li F. Disease and mortality trajectories of cognitively able autistic individuals in mid- and later adulthood. BMC Med. 2025; 23(1): 280.

BACKGROUND: An increasing number of autistic adults have entered their later life, but little is known about the disease trajectory in mid- and later adulthood. We aimed to examine the patterns of comorbidity progression in adults with autism spectrum disorder (ASD) that may affect their mortality. METHODS: Participants were identified from the UK Biobank study. We first identified individuals with ASD diagnosis, each of whom was randomly matched to up to 10 participants without ASD diagnosis. Cox regression was used to estimate the hazard ratio (HR) of mortality. Disease trajectory analysis was performed to investigate temporal sequencing of medical conditions and mortality associated with ASD. A multistate model was used to investigate the association patterns between ASD and three common chronic conditions: cardiovascular disease/hypertension, type 2 diabetes and disorders of lipoprotein metabolism, and depression/anxiety. RESULTS: The study included 659 ASD cases (66.8% male; mean age 52.0 [SD, 8.1]) and 6590 matched non-autistic individuals. ASD were associated with a 90% higher all-cause mortality (HR, 1.90, 95% CI, 1.41-2.55) and also higher risks of 45 medical conditions across almost all body systems (all Bonferroni-adjusted P < 0.05). Trajectory analyses exhibited three clusters of medical conditions that predisposed autistic adults to excess mortality: cardiometabolic diseases, external conditions, and infectious diseases. Autistic adults showed not only an overall increased risk of progression of multimorbidity but also distinctive association patterns across different disease transitions. CONCLUSIONS: Our findings show patterns of comorbidities among autistic adults in their mid- and later adulthood, which could provide information to their caregivers to implement appropriate disease management and prevention strategies.

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27. Qiu Z. Advancements in autism spectrum disorder research –from mechanisms to interventions. Curr Opin Neurobiol. 2025; 93: 103048.

This review summarizes recent advancements in the research of autism spectrum disorders (ASD), emphasizing genetic underpinnings and their implications for neurodevelopment and cognitive functions. It explores both syndromic and nonsyndromic ASD, highlighting the discovery of critical ASD-related genes and their mechanistic roles as revealed by studies using genetically engineered mouse and non-human primate models. While these models have shed light on the potential of synaptic dysfunction to disrupt brain development, they also underscore the challenges of replicating complex cognitive dysfunctions observed in ASD. Recent successes in gene therapy, particularly through innovative approaches like gene replacement and base editing, offer promising pathways for addressing genetic anomalies in ASD. These therapeutic strategies, underscored by clinical trials and cutting-edge genetic manipulation techniques, pave the way for potential interventions that could profoundly impact ASD management and treatment.

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28. Remón S, Ferrer-Mairal A, Sanclemente T. Food and Nutrition in Autistic Adults: Knowledge Gaps and Future Perspectives. Nutrients. 2025; 17(9).

Proper nutrition is a critical component in supporting the overall health and development of individuals with autism spectrum disorder (ASD) who experience eating difficulties associated with their autistic traits. Evidence regarding the prevalence, origins, and consequences of eating issues related to ASD is largely derived from studies on autistic children, while information pertaining to adults remains scarce. It is therefore essential to critically review existing research focusing on autistic adults to draw robust conclusions and identify clear research gaps. A computer-aided search in PubMed, Science Direct, Scopus, and Web of Science databases spanning the years 2013-2024 using the search terms covering ASD/Autism, Adult, Nutrition/Nutritional Status, and Diet yielded 43 full-text articles. In our literature review, we explored three critical aspects of nutrition in adults with ASD: their food preferences and sensory processing patterns, studies on nutritional status, and whether dietary and nutritional interventions have improved their adherence to healthier diets. Autistic adults appear to select food based on sensory perceptions. This selection pattern can affect their nutritional status, with a tendency toward overweight and nutritional deficiencies. The most promising intervention strategies incorporate sensory adaptation and structured meal planning. Further research should apply rigorous methodologies that account for this population’s specific characteristics.

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29. Schuster BA, Okamoto Y, Takahashi T, Kurihara Y, Keating CT, Cook JL, Kosaka H, Ide M, Naruse H, Kraaijkamp C, Osu R. A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults. Mol Autism. 2025; 16(1): 29.

BACKGROUND: So-called ‘mismatch accounts’ propose that, rather than arising from a socio-cognitive deficit present in autistic people, mentalising difficulties are the product of a mismatch in neurotype between interaction partners. Although this idea has grown in popularity over recent years, there is currently only limited empirical evidence to support mismatch theories. Moreover, the social model of disability such theories are grounded in demands a culturally situated view of social interaction, yet research on mentalising and/or autism is largely biased towards Western countries, with little knowledge on how successful mentalising is defined differently, and how tools to assess socio-cognitive ability compare, across cultures. METHODS: Using a widely employed mentalising task-the animations task-, the current study investigated and compared the bi-directional mentalising performance of British and Japanese autistic and non-autistic adults and assessed observer-agent kinematic similarity as a potential dimension along which mismatches may occur between neurotypes. Participants were asked to depict various mental state- and action-based interactions by moving two triangles across a touch-screen device before viewing and interpreting stimuli generated by other participants. RESULTS: In the UK sample, our results replicate a seminal prior study in showing poorer mentalising abilities in non-autistic adults for animations generated by the autistic group. Crucially, the same pattern did not emerge in the Japanese sample, where there were no mentalising differences between the two groups. LIMITATIONS: Limitations of the current study include that efforts to match all samples within and across cultures in terms of IQ, gender, and age were not successful in all comparisons, but control analyses suggest this did not affect our results. Furthermore, any performance differences were found for both the mental state- and action-based conditions, mirroring prior work and raising questions about the domain-specificity of the employed task. CONCLUSIONS: Our results add support for a paradigm shift in the autism literature, moving beyond deficit-based models and towards acknowledging the inherently relational nature of social interaction. We further discuss how our findings suggest limited cultural transferability of common socio-cognitive measures rather than superior mentalising abilities in Japanese autistic adults, underscoring the need for more cross-cultural research and the development of culturally sensitive scientific and diagnostic tools.

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30. Shpigelman CN, Hassan GH. « The System Sweeps it Under the Rug »: Educational Staff’s Perspectives on Romantic Relationships Among Autistic Adolescents. J Autism Dev Disord. 2025.

Article 23 of the Convention on the Rights of Persons with Disabilities (CRPD) calls to recognize the right of people with disabilities to have romantic relationships, marry and raise children. However, to date, research has mainly focused on this issue in relation to people with physical or intellectual disabilities. Less is known about romantic relationships among autistic adolescents and how others in their immediate environment, such as educational staff, perceive and refer to this issue. To address this gap, the present study aimed to understand and describe the perspectives of educational staff on the romantic relationships of autistic adolescents, including their views regarding the right and capability of adolescents to form and maintain such relationships, and the education system’s role in providing relevant knowledge and skills. A descriptive phenomenological qualitative approach was applied. Face-to-face interviews were conducted with 20 educational staff members from special education schools in Israel. Four main themes emerged from the thematic analysis of the interviews: (1) Stigmatic attitudes regarding the ability of autistic adolescents to develop romantic relationships; (2) Preventive sexual education as a priority; (3) Behavioral implications of educational neglect; and (4) Recommended practices. The findings highlight the need for macro- and micro-level change by developing an adapted curriculum that views romantic relationships as positive and constructive and eliminating stigmatic perceptions among educational staff. Another recommendation is to provide educational staff with emotional and practical preparation for addressing the issue of romantic relationships in class.

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31. Song Z, Liang SH. Novel Tetrahydrobenzo[b]pyrazolo[3,4-e][1,4]diazepine Compounds as Oxytocin Receptor Agonists for Treating Autism Spectrum Disorders. ACS Med Chem Lett. 2025; 16(5): 752-3.

The present invention reveals a series of novel nonpeptidergic compounds as oxytocin receptor (OT-R) agonists. These agonists, featuring a tetrahydrobenzo[b]pyrazolo[3,4-e][1,4]diazepine scaffold, hold the therapeutic potential for the treatment of autism spectrum disorders.

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32. Sotgiu S, Barisano G, Cavassa V, Puci MV, Sotgiu MA, Nuvoli A, Masala S, Carta A. Cognitive Brain Networks and Enlarged Perivascular Spaces: Implications for Symptom Severity and Support Needs in Children with Autism. J Clin Med. 2025; 14(9).

Background/Objectives: The severity of autism spectrum disorder (ASD) is clinically assessed through a comprehensive evaluation of social communication deficits, restricted interests, repetitive behaviors, and the level of support required (ranging from level 1 to level 3) according to DSM-5 criteria. Along with its varied clinical manifestations, the neuroanatomy of ASD is characterized by heterogeneous abnormalities. Notably, brain MRI of children with ASD often reveals an increased number of perivascular spaces (PVSs) compared to typically developing children. Our recent findings indicate that enlarged PVSs (ePVSs) are more common in younger male patients with severe ASD and that specific ePVS locations are significantly associated with ASD symptoms. Methods: In this study, we mapped ePVSs across key regions of three major cognitive networks-the Default Mode Network (DMN), the combined Central Executive/Frontoparietal Network (CEN/FPN), and the Salience Network (SN)-in 36 individuals with different symptom severities and rehabilitation needs due to ASD. We explored how the number, size, and location of PVSs in these networks are related to specific ASD symptoms and the overall need for rehabilitation and support. Results: Our results suggest that ePVSs in the DMN, CEN/FPN, and SN are strongly correlated with the severity of certain ASD symptoms, including verbal deficits, stereotypies, and sensory disturbances. We found a mild association between ePVSs and the level of support needed for daily living and quality of life. Conclusions: Dysfunction in cognitive networks associated with the presence of ePVSs has a significant impact on the severity of ASD symptoms. However, the need for assistance may also be influenced by other comorbid conditions and dysfunctions in smaller, overlapping brain networks.

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33. Sugiyama M, Mori M. Sex differences in the relationship between autistic traits and face-change discrimination sensitivity in the general population: a psychophysical investigation. Cogn Process. 2025.

The findings on the effect of autistic traits on face recognition performance vary across previous studies. Even though people with higher autistic traits have difficulties identifying faces, the extent to which they have difficulties is unknown. Moreover, even though Autism Spectrum Disorder has sex differences in prevalence and symptoms, a limited number of studies consider sex differences in face recognition. The present study examined the relationship between face-change discrimination sensitivity and autistic traits considering sex differences. The participants included 82 females and 88 males in the general population. Face change blindness task using psychophysical method was used to evaluate the degree of sensitivity to faces in each participant. A psychometric function computed the Point of Subjective Equality (PSE) as the morphing level required to discriminate between faces. The Autism Spectrum Quotient (AQ) was also administered to participants. The results revealed a negative relationship between the total score of the AQ and the PSE in females but not males. This study suggests that sex differences should be considered when examining the relationship between autistic traits and other-face perception.

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34. Sykioti P, Zis P, Hadjikonstanti D, Hadjivassiliou M, Vavougios GD. Shared Immune and Nutrient Metabolism Pathways Between Autism Spectrum Disorder and Celiac Disease: An In Silico Approach. Nutrients. 2025; 17(9).

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and repetitive behaviors. Emerging evidence suggests a potential link between ASD and celiac disease (CD), possibly mediated by immune dysregulation and nutrient deficiencies. This study explores the shared biological pathways between ASD and CD using an in silico approach. Methods: Gene-disease associations for ASD and CD were retrieved from DisGeNET using MedGen Concept IDs (C1510586 and C0007570, respectively). An over-representation analysis (ORA) was conducted using GeneTrail 3.2 to identify significantly enriched biological pathways, which were then compared for overlap. A false discovery rate (FDR) < 0.05 was considered statistically significant. Results: The gene-disease association analysis identified 536 ASD-related genes and 52 CD-related genes. The ORA revealed several shared biological pathways, including immune pathways, cellular metabolism, and micronutrient processing (e.g., folate, selenium, vitamin A). These findings suggest immune dysfunction and nutrient malabsorption as potential mechanistic links between ASD and CD. Conclusions: The observed pathway overlap supports the hypothesis that immune dysregulation and metabolic disturbances contribute to both ASD and CD. Nutrient deficiencies, driven by CD-associated malabsorption, may exacerbate ASD symptoms. Additionally, sensory processing abnormalities in ASD could impact dietary choices, complicating gluten-free diet adherence. Future studies should validate these findings in clinical cohorts and explore dietary interventions, such as targeted supplementation, to mitigate ASD symptoms in individuals with CD.

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35. Tanaka C, Okada A, Hanzawa M, Fujii C, Shigeyasu Y, Sugihara A, Horiuchi M, Yorifuji T, Tsukahara H. Avoidant/restrictive food intake disorder prognosis and its relation with autism spectrum disorder in Japanese children. Pediatr Int. 2025; 67(1): e70040.

BACKGROUND: There is a lack of reported clinical factors associated with the outcomes of children and adolescents with avoidant/restrictive food intake disorder (ARFID) in Japan. This study aimed to identify these clinical factors and explore the relationship between ARFID and autism spectrum disorder (ASD). METHODS: This retrospective study analyzed data from 48 Japanese children and adolescents with ARFID who visited Okayama University Hospital between January 2011 and March 2022. Clinical characteristics were assessed using medical records and natural history questionnaires. The study compared patients with good and poor prognosis groups and used multiple logistic regression analysis to determine factors influencing prognosis. RESULTS: The study included 33 patients with good prognoses and 15 with poor prognoses. Comorbid ASD was more prevalent in the poor prognosis group (60%) compared to the good prognosis group (21%). Additionally, more than half of the ARFID patients with comorbid ASD were initially undiagnosed. Multivariate analysis revealed that older age at first visit (p = 0.022) and comorbid ASD (p = 0.022) were statistically significant factors associated with poor prognosis in ARFID patients. There were no significant differences in body mass index standard deviation score and maximal weight loss between the two groups. CONCLUSIONS: The poor prognosis group had a higher prevalence of comorbid ASD diagnoses. Therefore, it is crucial to evaluate patient’s developmental characteristics early in treatment and consider these characteristics throughout the course of care.

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36. Tchanturia K, Chubinidze D, Duffy F, Nimbley E, Li Z, Holliday J. Implementation Insights from the PEACE Pathway Across UK Eating Disorder Services. Nutrients. 2025; 17(9).

BACKGROUND/OBJECTIVES: Autistic individuals with eating disorders (ED) face socio-emotional, sensory, and communication difficulties that influence engagement and treatment outcomes. We examined how the PEACE Pathway-an autism-informed approach to ED treatment-addresses these challenges through tailored adaptations in clinical care. METHODS: A qualitative multiple case studies design was employed, drawing data from clinical documentation, stakeholder feedback, and service evaluations. RESULTS: We identified eight core domains essential for implementation: pathway knowledge, assessment and planning, psychological interventions, sensory management, nutritional care, lived-experience feedback, family/community engagement, and staff training. These domains informed the development of the PEACE Self-Assessment Checklist to support the wider adoption of the pathway. CONCLUSIONS: The PEACE Pathway offers a structured approach to adapting ED treatment for autistic individuals. The checklist provides practical guidance for implementing autism-friendly adaptions.

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37. Toutain M, Paris S, Lefranc S, Henry L, Grandgeorge M. From Gaze to Interaction: Links Between Visual Attention, Facial Expression Identification, and Behavior of Children Diagnosed with ASD or Typically Developing Children with an Assistance Dog. Behav Sci (Basel). 2025; 15(5).

Understanding how children engage with others is crucial for improving social interactions, especially when one of the partners is an animal. We investigated relationships between interaction strategies, visual attention, and facial expression identification of children interacting with an assistance dog, and evaluated the effects of a neurodevelopmental disorder (Autism Spectrum Disorder (ASD)) on these elements. Thus 20 children (7 with ASD, 13 with typical development or TD) participated in three experimental tasks: (1) face-to-face encounters with the assistance dog while wearing eye-tracking glasses to analyze visual exploration patterns; (2) free interactions with the assistance dog, assessed using ethological methods and (3) a computerized task evaluating human and canine facial expression identification. The results revealed that (1) visual exploration patterns varied depending on task instructions: ASD children paid less attention to faces and more to the environment than TD children; (2) both groups displayed similar behavioral patterns during free interactions with the assistance dog; (3) facial expression identification data did not differ between groups; and (4) within-group associations emerged between visual attention, spontaneous interaction behaviors, and facial expression identification abilities. These findings highlighted the complex interplay between visual attention, facial expression identification, and social behavior of children, emphasizing the importance of context in shaping interaction strategies.

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38. Us Altay D, Esnafoglu E, Kocyigit E, Mataraci Değirmenci D, Noyan T. An Examination of the Effect of Parent-Centered Nutrition Education on the Oxidant-Antioxidant Parameters of Children Diagnosed With Autism Spectrum Disorder. Brain Behav. 2025; 15(5): e70504.

BACKGROUND: This study examined the effect of nutrition education given by dietitians to families of children aged 3-18 diagnosed with autism spectrum disorder (ASD) on meal consumption, eating behaviors, autism severity, serum oxidant/antioxidant marker levels, and total dietary antioxidant capacity. METHODS: The project was carried out with 44 pediatric patients diagnosed with ASD and their parents. The ELISA method was used for antioxidant and oxidant measurements, and the oxygen radical absorbance capacity values of foods defined according to the BeBiS program were used to calculate the total dietary antioxidant capacity. The children’s eating behavior questionnaire, childhood autism rating scale (CARS), and brief autism mealtime behavior inventory (BAMBI) were administered. RESULTS: There was no significant difference in antioxidant and oxidant parameters between the experimental and control groups. At the end of eight weeks, superoxide dismutase and glutathione levels increased significantly in the experimental group. There was no significant difference in terms of the families of the autistic children in the experimental and control groups or their disease-specific knowledge. BAMBI scores were similar between the groups at baseline, while a significant decrease was observed in the experimental group at the end of the study. Daily energy, saturated fatty acid (SFA), carbohydrate, and omega-6 intake decreased, while protein, fat, mono- and poly-unsaturated fatty acid, and omega-3 intake increased in the experimental group following nutrition education. However, these results were not statistically significant. There was no significant difference in terms of micronutrient intake between children with ASD in experimental and control groups before and after nutrition education. CONCLUSION: Improvements in eating habits and dietary patterns were noted after nutrition education, especially in the experimental group, even though there were no appreciable changes in oxidative stress indicators. These behavioral shifts imply that family nutrition education can be extremely important in encouraging better eating practices and improving the general well-being of kids with ASD and their families.

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39. Wiegand SD, Brown JA, Lieberman-Betz RG. « It’s Not My Journey, It’s Theirs »: Experiences of Part C Providers Screening for Autism. Lang Speech Hear Serv Sch. 2025: 1-11.

PURPOSE: Part C early intervention (EI) providers, including speech-language pathologists, are often involved in autism screening practices and discussing autism with families of toddlers. The purpose of this study was to understand EI providers’ perspectives of screening for autism. METHOD: Using a phenomenological qualitative design, we explored EI providers’ perspectives and experiences related to autism screening and engaging in conversations about autism with families. RESULTS: Findings from semistructured interviews with EI providers revealed themes related to (a) experiences screening for autism and engaging in conversations about autism, (b) interactions with families during autism conversations, and (c) resources and supports for providers and families. CONCLUSION: Findings from this study have implications for professional development and policies surrounding screening for autism in Part C.

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40. Zhang C, Chen Y, Hou F, Li Y, Wang W, Guo L, Zhang C, Li L, Lu C. Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms. Nutrients. 2025; 17(9).

Background/Objectives: Research on the safety and efficacy of high-dose folinic acid in Chinese children with autism spectrum disorder (ASD) is limited, and the impact of folate metabolism gene polymorphisms on its efficacy remains unclear. This trial aimed to evaluate the safety and efficacy of high-dose folinic acid intervention in Chinese children with ASD and explore the association between folate metabolism gene polymorphisms and efficacy. Methods: A 12-week randomized clinical trial was conducted, including 80 eligible children with ASD, randomly assigned to an intervention group (n = 50) or a control group (n = 30). The intervention group was administered folinic acid (2 mg/kg/day, max 50 mg/day) in two divided doses. Efficacy was measured using the Psycho-Educational Profile, Third Edition (PEP-3) at baseline and 12 weeks by two trained professionals blind to the group assignments. Methylenetetrahydrofolate reductase (MTHFR C677T, MTHFR A1298C), methionine synthase (MTR A2756G), and methionine synthase reductase (MTRR A66G) were genotyped by the gold standard methods in the intervention group. Results: 49 participants in the intervention group and 27 in the control group completed this trial. Both groups showed improvements from baseline to 12 weeks across most outcome measures. The intervention group demonstrated significantly greater improvements in social reciprocity compared to the control group. Children with MTHFR A1298C or MTRR A66G mutations demonstrated greater improvements in various developmental domains than wild type. Folinic acid may be more effective in certain genotype combinations, such as MTHFR C677T and A1298C. No significant adverse effects were observed during the intervention. Conclusions: High-dose folinic acid may be a promising intervention for children with ASD, and its efficacy is associated with folate metabolism gene polymorphisms. High-dose folinic acid intervention may promote better neurodevelopmental outcomes by alleviating folate metabolism abnormalities caused by single or combined mutations in folate metabolism genes.

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41. Zhang H, Liang Z, Zhuang H, Wang M, Huang Y, Cao X, Chen H, Shen L, Feng C. Proteomic study of plasma and L1CAM-captured exosomal proteins in children with autism spectrum disorders. J Pharm Biomed Anal. 2025; 264: 116965.

Autism spectrum disorder (ASD) has become a neurodevelopmental disorder that seriously endangers the health of infants and children. In order to explore the pathogenesis of the disease and search for early diagnostic biomarkers. In this study, plasma exosomes (PEs) and neural cell adhesion molecule L1 (L1CAM)-captured exosomes (LCEs) of ASD and controls were extracted and lysed to obtain proteins. Isobaric tags for relative and absolute quantitation (iTRAQ) proteomics were applied to investigate the differences in the expression of PEs and LCEs proteins between the two groups. Twenty-eight plasma exosomal differentially expressed proteins (DEPs) were identified, which were mainly associated with immunity, inflammation, complement and coagulation, and lipoprotein metabolism and transport. Twenty L1CAM-captured exosomal DEPs were identified, which were mainly involved in cytoskeleton, tight junctions, focal adhesion, and platelet-associated pathways. Meanwhile, our results suggested that processes or signaling pathways associated with the DEPs from plasma exosomes may be activated, whereas those associated with L1CAM-captured exosome may be inhibited. These processes or signaling pathways have been reported to be associated with ASD in previous studies. These DEPs have the potential to be diagnostic markers. This study provides new insights into disease mechanisms and diagnostic markers of ASD.

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