1. Akalin H, Bilgic B, Avcil S, Orenay-Boyacioglu S. Low Expression Levels of MAOA and TPH1 Genes May Represent Risk Factors in Boys With Autism Spectrum Disorder-A Case-Control Study. Int J Dev Neurosci. 2025; 85(8): e70073.

INTRODUCTION: It has been reported that disruptions in the metabolic pathways of tryptophan, the precursor of the neurotransmitter serotonin, may contribute to the development of autism spectrum disorder (ASD); however, further research is needed. Therefore, this study aims to assess the gene expression levels of two key enzymes involved in tryptophan metabolism, monoamine oxidase A (MAOA) and tryptophan hydroxylase-1 (TPH1), in male children diagnosed with ASD, and to explore their relationship with autism severity. METHODS: For this purpose, 30 male children diagnosed with ASD according to the DSM-5 diagnostic criteria, who presented to the Institutional Child and Adolescent Psychiatry outpatient clinic, and 30 male children who presented to the same clinic with no psychiatric disorders detected were recruited as the control group. The subjects were administered the Childhood Autism Rating Scale. The expressions of MAOA and TPH1 genes were determined using Quantitative Real-Time PCR. RESULTS: The expression levels of MAOA and TPH1 genes were significantly reduced in the patient group compared to the control group (p = 0.017 and 0.000, respectively). No statistically significant results were obtained between autism severity and the expression levels of these genes within the patient group (p > 0.05). CONCLUSION: This study is the first to investigate and establish a correlation between the expression levels of the MAOA and TPH1 genes and ASD using human blood samples. Low MAOA and TPH1 gene expression levels, may contribute to serotonergic dysregulation potentially acting as risk factors involved in ASD.

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2. Dana H, Tahtasakal R, Sahin M, Pirencioglu SN, Tughan E, Demirci E, Sener EF. VDR Gene Expression Changes in Autism Spectrum Disorders: What is the Role of Maternal Effect?. J Clin Pract Res. 2025; 47(5): 486-93.

OBJECTIVE: Autism spectrum disorders (ASD) are clinically heterogeneous conditions associated with cognitive impairments. Vitamin D (VD) deficiency has been proposed as a potential risk factor for neurodevelopmental disorders, including ASD. However, the roles of VD and vitamin D receptor (VDR) genes in ASD remain largely unexplored. MATERIALS AND METHODS: We evaluated VDR gene expression levels in peripheral blood samples from 23 children with ASD and their mothers, as well as 26 age- and sex-matched controls and their mothers. RESULTS: Reduced VDR gene expression was observed in both children with ASD and their mothers. Furthermore, VDR expression exhibited sex-specific differences, with male ASD patients showing significantly higher expression levels compared to female patients. CONCLUSION: Few studies have investigated maternal VDR expression in the context of ASD. Future research involving larger family-based cohorts is warranted to further elucidate the role of VDR in ASD and its potential relevance to neuropsychiatric conditions.

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3. Deng Z, Wu S, Zhao Y, Song A, Wu H, An Z, Wang F, Xu X. iTBS Improves Behavioral Abnormalities and Synaptic Defects in Fmr1 KO Rats by Regulating the Autophagy Pathway. Mol Neurobiol. 2025; 63(1): 257.

Synaptic dysfunction resulting from abnormal autophagy may contribute to the pathogenesis of fragile X syndrome (FXS). Intermittent theta burst stimulation (iTBS) is a novel magnetic stimulation mode that has shown promising therapeutic potential in various neurological disorders. However, the therapeutic effects of iTBS on FXS-related behavior abnormality and its underlying mechanism remain unclear. In this study, we investigated whether iTBS could ameliorate behavioral abnormalities and synaptic dysfunction associated with FXS by modulating the autophagy pathway. This study utilized Fmr1 knockout (KO) rats as experimental models. The rats underwent a 2-week iTBS intervention, and behavioral changes were assessed through a series of behavioral tests. Electrophysiological recordings were performed to examine alterations in hippocampal neural oscillations. Golgi staining and Western blotting were utilized to evaluate changes in synaptic structure and synaptic related proteins, while Western blotting and immunofluorescence were employed to assess alterations in autophagy-related proteins. Our results demonstrated that iTBS significantly improved behavioral deficits in Fmr1 KO rats. Furthermore, iTBS effectively attenuated abnormally heightened hippocampal theta-gamma phase-amplitude coupling in these rats. Treatment with iTBS also led to sustained improvements in synaptic defect, along with the restoration of CaMKK2 activity and autophagy defect in the hippocampus of Fmr1 KO rats. These findings underscored the beneficial effects of iTBS on aberrant behavior and synaptic defects in Fmr1 KO rats, highlighting the involvement of the CaMKK2-dependent autophagy pathway in this process and suggesting the potential therapeutic value of iTBS for individuals with FXS.

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4. Expósito-Campos P, Pérez-Fernández JI, Salaberria K. Differences in Personality and Psychopathological Symptoms among Adults with Distinct Gender Trajectories. Span J Psychol. 2025; 28: e24.

Transgender and gender diverse (TGD) people show different trajectories after gender transition. While some continue to transition, others detransition (DT), that is, stop or reverse the process. Both populations experience poor mental health, but no study has compared whether they have different psychological profiles and needs. This exploratory study compared TGD and DT participants in terms of psychopathological symptoms, personality variables, and the possible presence of eating disorders (ED) and autism spectrum disorders (ASD). A total of 29 TGD participants (M age = 28.28, 72.4% female at birth) and 21 DT participants (M age = 29.19, 66.7% female at birth) completed the Personality Assessment Inventory (PAI), the Sick-Control-One stone-Fat-Food (SCOFF), and the 10-item Autism Quotient (AQ-10). Of these, 28% screened positive for ED and 28% for ASD, and the percentage for ASD was higher in the DT group. TGD participants had elevated scores on borderline features and mania, whereas DT participants had elevated scores on anxiety-related disorders. The TGD group showed significantly higher scores on antisocial features, alcohol problems, and dominance, and significantly higher rates of self-harm; the DT group had significantly higher scores on phobias and significantly higher rates of social detachment. Both groups exhibited elevated scores on suicidal ideation, stress, and nonsupport. The results suggest that TGD and DT participants may have different psychological profiles, with TGD participants exhibiting more externalizing symptoms and DT participants reporting more neurodiversity and internalizing symptoms. The findings highlight common and distinct vulnerabilities and needs that should be considered in clinical practice.

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5. Ezaddoustdar J, Tristani L, McEvenue T, Bassett-Gunter R. The Effectiveness of an e-Learning Program for Educating Physical Activity Professionals on Supporting Autistic Individuals in Physical Activity. Adapt Phys Activ Q. 2025: 1-9.

Physical activity (PA) benefits autistic1 individuals, yet barriers including limited support from PA professionals hinder PA engagement. Guided by the theory of planned behavior and the diffusion of innovations theory, this study used a quasi-experimental one-group pretest-posttest design to investigate the effectiveness and practicality of an e-learning program in changing PA professionals’ intention and confidence to support autistic individuals in PA. PA professionals (N = 49) completed the Strong Minds Through Active Bodies e-learning program, as well as pre- and postevaluations. Results showed significant improvements in all theory of planned behavior constructs and positive feedback on the module’s practicality. Tailored e-learning can enhance PA professionals’ understanding and confidence in meeting the unique needs and preferences of autistic individuals in PA. Further research is warranted to understand how e-learning may be leveraged as a tool to foster more inclusive programs, ultimately encouraging greater participation by creating accessible and engaging PA environments that are supportive and conducive to active engagement for autistic individuals.

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6. Fernandez MV, Sirven A, Pickles B, Hamid S, Nunez Selva A. Overlapping Pathways: Autism Spectrum Disorder in Fragile X Carrier States and the Need for Greater Awareness. Cureus. 2025; 17(11): e95948.

Fragile X syndrome (FXS), caused by a full mutation (>200 CGG repeats) in the gene Fragile X messenger ribonucleoprotein 1 (FMR1), is the most common single-gene cause of autism spectrum disorder (ASD). Far less is known about the clinical significance of smaller FMR1 expansions. In this case series, we describe four male patients with ASD who carried the FMR1 intermediate (gray-zone) alleles (45-50 CGG; counts: 45, 49, 49, 50). All had early speech/language delay with ASD-consistent features (social-communication deficits, sensory sensitivities, and repetitive behaviors). Common comorbidities included attention-deficit/hyperactivity disorder (ADHD) features and sleep disturbance responsive to standard interventions. None of them met premutation (55-200 CGG) or full-mutation criteria. These observations align with emerging evidence that gray-zone alleles can be associated with neurodevelopmental phenotypes, including ASD traits, in a subset of carriers. Clinically, the series reinforces guidance to include FMR1 analysis in genetic evaluations for unexplained developmental delay/ASD and to provide counseling when intermediate results are identified. Awareness of a potential overlap between the FMR1 gray-zone states and ASD may aid comprehensive evaluation and family counseling. Larger, controlled studies, especially those incorporating AGG interruption analysis, are needed to quantify risk and clarify mechanisms underlying phenotypic variability.

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7. Jiang S. Retraction Note: Bridging the gap: explainable ai for autism diagnosis and parental support with TabPFNMix and SHAP. Sci Rep. 2025; 15(1): 43184.

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8. Kawahara Y, Ohnishi YN, Takahashi T, Kishikawa Y, Kuroiwa M, Yuge K, Kawahara H, Yamashita Y, Matsuishi T, Nishi A. Ghrelin restores D1 receptor-mediated dopamine neurotransmission and enhances attentive behaviour in Mecp2 KO mice. Eur J Pharmacol. 2025; 1008: 178352.

Rett syndrome is an X-linked neurodevelopmental disorder characterised by cognitive, attentional, and communicative impairments along with sensory and motor deficits. Optimal activation of dopamine D1 receptor signalling in the prefrontal cortex (PFC) is essential for cognition and object-based attention. Ghrelin has been observed to modulate dopaminergic neurotransmission and improve cognitive function and attention impairments in various animal models. Herein, we investigated the effects of ghrelin on D1 receptor-mediated dopaminergic neurotransmission in the PFC of male Mecp2 knockout (KO) mice, a mouse model of Rett syndrome, using in vivo microdialysis. External stimuli, such as saline injection and novelty induced increases in the dopamine levels in the PFC of wild-type mice, and the dopamine release was bidirectionally regulated by D1 receptors. In the PFC of Mecp2 KO mice, the dopaminergic responses to external stimuli were attenuated, and the dopamine reuptake system was upregulated. Pharmacological analyses revealed that the ability of D1 receptor signalling to inhibit dopamine release would be upregulated and/or its ability to stimulate dopamine release would be downregulated in Mecp2 KO mice. Ghrelin injection (8.6 μg/mouse, s.c.) restored dopaminergic responses to external stimuli by adjusting the altered function of D1 receptor signalling. While ghrelin injection failed to improve the impaired object recognition ability in Mecp2 KO mice, it enhanced attention and exploratory activity toward objects. These findings in Mecp2 KO mice suggest that ghrelin may enhance D1 receptor-mediated dopaminergic neurotransmission and exert beneficial effects on dopamine-related behaviour, such as attention and investigatory motivation towards objects, in Rett syndrome.

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9. Kyriakakis P, Gonzalez OC. Current and emerging tools for studying animal models of sleep and autism. J Psychiatr Res. 2025; 193: 283-301.

Sleep disturbances and the role of sleep in neuropsychiatric disorders have been studied in numerous animal models using complementary approaches. This review focuses on preclinical tools for studying sleep in several animal models of ASD, including existing non-genetic and genetic models, new tools for generating different types of genetic models, and methods to facilitate efficient animal model generation. Tools for studying sleep in these models, including EEG, fluorescent imaging, and genetic approaches for controlling neural activity (such as optogenetics) and genetically encoded tools for monitoring neural activity and neurotransmitters, are discussed and organized into readily accessible reference tables. Hardware, such as activity monitoring systems, EEG/EMG, and open-source recording systems, ia also reviewed, along with their caveats and trade-offs. This review highlights emerging tools for monitoring sleep, including hardware and genetic approaches, and explores novel methods for manipulating biological activity applicable to sleep and ASD research. These exciting new tools promise to accelerate our understanding of sleep and its role in neuropsychiatric disorders.

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10. Li C, Yang M, Tan C, An Y, Zhang J. The Febrile Effect in Autism Spectrum Disorder: An Investigation of Behavioral Improvements During Episodes of Fever in Chinese Children. J Dev Behav Pediatr. 2025.

PURPOSE: Some individuals with autism spectrum disorder (ASD) demonstrate marked behavioral improvements during febrile episodes, which is called febrile effect. This study aimed to investigate the prevalence and characteristics of the febrile effect in children with ASD in China. METHODS: One hundred fifty-seven patients diagnosed with ASD were recruited to participate in the study; the parents completed a self-compiled questionnaire regarding the febrile effect. Children who reportedly improved with fever (Improve Group) were compared with those who reportedly did not improve (No Improve Group) on the core symptoms and developmental status. RESULTS: Parent reports of 16.56% of children exhibited behavioral improvements during fever. Improvements included reduced problem behaviors, enhanced cognitive or learning abilities, increased social interaction, and decreased stereotypical behaviors. The Improve Group scored higher in Autism Diagnostic Observation Schedule, Second Edition and Social Responsiveness Scale. There were no significant differences in the incidence of infectious diseases during pregnancy among mothers in the 2 groups; however, a marked disparity was observed in the frequency of febrile episodes within the preceding year. The duration of the febrile effect varied, with 76.92% being temporary and 23.08% showing sustained improvements postfever. Children with sustained improvements had more severe social deficits. CONCLUSION: The febrile effect is observed in a subset of ASD children and may be associated with more severe social deficits. The heterogeneity in the duration of the febrile effect suggests the need for further research to elucidate the underlying mechanisms and potential therapeutic applications.

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11. Life BE, Thomas TR, Asher R, Bruwer Z, Buckle KL, Chepkirui D, Donald KA, Dwyer P, Halladay A, Harker S, Ivankovic F, Kamuya DM, Kuo S, Natri H, Phan JM, Robinson E, van der Merwe C. Autism genetics: perspectives, discourse, and community engagement. Trends Genet. 2025.

Autism genetics research has the capacity to improve the quality of life of autistic community members, but research priorities vary widely across stakeholders. We summarize key points from our discussion series on autism genetics, highlighting diverse perspectives. Working together, we aim to encourage healthy engagement in autism genetics research.

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12. Lyu B, Ba Y, Ma D, Liu N, Fu L, Xue Y. Effectiveness of sensory integration-based intervention in autistic children, focusing on Chinese children: a systematic review and meta-analysis. Front Psychiatry. 2025; 16: 1623149.

OBJECTIVE: In recent years, the prevalence of autism spectrum disorder (ASD) has been increasing year by year, bringing huge economic and mental burdens to society and families. Ayres Sensory Integration Intervention (ASI) is a widely used approach in the treatment of ASD. A more common sensory integration approach in China is called sensory integration-based intervention (SIBI), which is developed based on ASI. This study systematically analyzes the effects of SIBI on the sensory integration abilities and autism-related behaviors of autistic children. METHODS: We searched PubMed, Cochrane Library, Web of Science, EBSCO, and CNKI databases from inception to February 2025. Randomized controlled trials (RCTs) using SIBI to improve autistic children were included. After selection, data were extracted on author, year, country, sample size, age, intervention type and duration, and outcome indicators. Quality assessment and data extraction were conducted independently by two researchers. Statistical analyses were performed in Stata 17, including forest plots, funnel plots with Egger’s test for publication bias, and meta-regression for heterogeneity. RESULTS: A total of 16 studies with 1319 samples were included. The results showed that compared to the control group, SIBI had a positive effect on the total score of sensory integration ability scales for autistic children [mean difference (MD), 11.53; 95% confidence interval (CI) (10.53, 12.53); P<0.5]. Compared to the control group, SIBI also positively improved the total score of the ATEC scale [MD, -16.12; 95% CI (-22.61, -9.64); P<0.05] and the total score of the ABC scale [MD, -16.12; 95% CI (-22.61, -9.64); P<0.05]. The results from Egger's test and the funnel plot indicated no publication bias. Due to the high heterogeneity (I²>50%) in the results of SIBI intervention on the total ABC score, a meta-regression analysis was conducted. The results of the meta-regression analysis indicated that age was not the source of heterogeneity, while the intervention duration was found to be the source of heterogeneity (β=-0.51, P<0.05, 95% CI [-1.01, -0.01]). CONCLUSION: SIBI can effectively improve the sensory integration ability and autism-related behaviors of autistic children. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD420250639991.

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13. McFayden TC, Harrop C, Roell KR, Joseph RM, Frazier JA, Fry RC, O’Shea TM. Developmental Trajectories of Autistic Social Traits in Youth Born Extremely Preterm. J Am Acad Child Adolesc Psychiatry. 2025.

OBJECTIVE: Autistic social traits (ASTs), evident in the general population, are associated with mental health challenges. ASTs have not been evaluated in youth born extremely preterm (EP), despite their increased prevalence of autism. The current research evaluates AST change from 10-17 years in a well-characterized sample of EP youth, including sex differences and associations with health and quality of life. METHOD: Participants included 527 EP youth (n=275 females, 67.8% White), assessed at 10- and 17-years, from the ELGAN study. Adolescents were born at an average of 26 weeks gestation. ASTs were parent-reported via the Social Responsiveness Scale at 10- and 17-years. Adolescents self-reported quality of life, health, and psychopathology at 17-years. AST change scores were calculated to evaluate change over time. AST change scores and increasing, decreasing, and stable trajectories were analyzed in relation to sex and quality-of-life scores. RESULTS: ASTs in EP youth increased an average of 19 raw points from ages 10-17 years, reflecting a change of eight standardized points and a change in qualitative description from the « normal » to « mild concern » range. Most youth (70%) exhibited an « Increasing » trajectory, reflecting increasing AST as a preterm phenotype. No sex differences emerged in AST change score or trajectory group. Higher AST change scores were associated with worse adolescent-reported health, self-esteem, and externalizing psychopathology. CONCLUSION: Increasing ASTs were consistent in this sample of EP youth. Increases in ASTs were not associated with child’s sex or demographics, suggesting a unique preterm phenotype of social trajectories. These findings have implications for quality of life as adolescents enter young adulthood.

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14. Minami T, Ikegame T, Tanaka M, Kumagai E, Kanehara A, Morishima R, Kumakura Y, Okochi N, Hamada J, Ogawa T, Tamune H, Kano Y, Jinde S, Kasai K. Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk. PCN Rep. 2025; 4(4): e70261.

AIM: 22q11.2 deletion syndrome (22qDS) is the most common copy-number-variation disorder, associated with multi-organ anomalies and elevated risk for schizophrenia and other neuropsychiatric conditions. Previous metabolomic studies have used blood samples, implicating mitochondrial dysfunction and amino acid imbalance, but no urinary metabolomic analysis has been reported. We aimed to characterize the urinary metabolomic profile of 22qDS. METHODS: We conducted an exploratory study comparing urine from 10 individuals with 22qDS and 10 age- and sex-matched healthy controls. Metabolites were quantified using capillary electrophoresis time-of-flight mass spectrometry and liquid chromatography time-of-flight mass spectrometry. Data were analyzed using principal component analysis and Wilcoxon rank-sum tests with false-discovery-rate adjustment. RESULTS: Principal component analysis indicated separation between groups. Several metabolites differed significantly, defined by a false discovery rate q < 0.20 and fold change > 1.5 or <0.67. Elevated metabolites in 22qDS included 2-hydroxyglutaric acid, p-cresol sulfate, p-cresol glucuronide, trimethylamine-N-oxide, and 3-indoxylsulfuric acid, whereas citrulline and lysine were reduced. These metabolites are implicated in mitochondrial dysfunction, amino acid imbalance, and gut microbial dysbiosis. A substantial proportion of altered metabolites corresponded to those previously reported in autism spectrum disorder (ASD), predominantly microbiota-related. CONCLUSION: This first urinary metabolomic study of 22qDS demonstrates systemic metabolic alterations, including mitochondrial and microbiota-associated changes. The overlap with ASD is suggestive of a possible shared metabolic signature. Our findings provide initial insights into systemic and microbial contributions to neuropsychiatric vulnerability in this genetically defined high-risk population.

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15. Norozi M, Sarmukadam K, Paterra V, Parks E, Hogan AL. Associations Between Communication Skills and Social Anxiety in Children and Adolescents With Autism Spectrum Disorder: A Systematic Review. J Speech Lang Hear Res. 2025: 1-13.

PURPOSE: This systematic review examined the association between communication skills and social anxiety in autistic youth ≤ 18 years old. METHOD: A systematic search was conducted across six databases (PubMed/MEDLINE, Web of Science, Scopus, PsycINFO, Embase, and ProQuest) and gray literature to identify quantitative studies that investigated the relationship between communication skills and social anxiety in autistic youth. This systematic review was registered prospectively on PROSPERO (International Prospective Register of Systematic Reviews; Registration No. CRD42023415376). RESULTS: Six studies met the inclusion criteria, comprising a total of 682 autistic participants. Findings suggest a moderate relationship between social anxiety and communication skills, but this association varied depending on the measure used, the cognitive abilities of participants, and the specific communication domains examined. CONCLUSIONS: The association between communication skills and social anxiety in autistic youth is complicated and impacted by multiple factors, including measurement heterogeneity, cognitive abilities, and developmental stage. Future research should include larger sample sizes and adopt validated measures tailored for autistic individuals to enhance the consistency of findings and improve the understanding of the relationship between communication skills and social anxiety. Longitudinal studies are also needed to explore how relationships evolve across development. Understanding these associations has important implications for targeted interventions to support autistic individuals with co-occurring social anxiety. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.30716924.

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16. Perez Liz G, Thao D, Reeb K, IG ME, McCurdy E, Yudell M, Robins DL. Autism Screening in High-Likelihood Children in a Community Early Intervention Setting: A Hybrid Effectiveness-Implementation Study. Focus Autism Other Dev Disabl. 2025; 40(3): 145-53.

Identification of likelihood for autism in the U.S. early intervention (EI) system facilitates referrals to diagnostic assessments and targets autism-specific needs. However, performance of autism screeners in high-likelihood preschool children and barriers to implementation need to be further studied. The current effectiveness-implementation hybrid type 1 study examined the impact of administering the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) in a sample of preschool children during the EI intake phone call. Data from 2,661 educational records showed that 42.8% of them received the M-CHAT-R. Only 14.0% of the screen-positive children completing the process to determine eligibility for EI services were referred for an autism-specific evaluation. Most of these (94.8%), regardless of screener status, received an autism diagnosis, suggesting that referrals are based on clinical judgment. Training and incorporation to current protocols within agencies are necessary to introduce a screening tool and support implementation fidelity and effective autism detection.

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17. Protic D, Bascarevic D, Dimitrijevic S, Pesovic J, Nikolic V, Nikolic S, Novicevic V, Markovic J, Arandjelovic I, Savic-Pavicevic D, Diricks M, Belheouane M, Merker M. Microbiome modulation and behavioural improvements in children with fragile X syndrome following probiotic intake: A pilot study. Sci Rep. 2025.

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18. Quetsch L, Shah E, Kiefer J. Collaborating with an autism community advisory board to develop a family-based, neurodiversity-affirming intervention: PCIT-Autism. Res Involv Engagem. 2025.

BACKGROUND: Parent-Child Interaction Therapy (PCIT) has been effectively implemented for autistic youth and their families who need help reducing disruptive behaviors, promoting language development, and enhancing the parent-child relationship. However, like most autism-based interventions, the PCIT protocol was originally adapted for (rather than with or by) the autism community. A new wave of intervention research calls for input from autism advocates throughout each phase of the research process. The present study signifies the first step in the development and implementation of a pilot PCIT program with autistic youth and their families (i.e., PCIT-Autism). METHODS: Academic researchers collaborated alongside an Autism Community Advisory Board (CAB) comprised of autistic adults (N = 10) and caregivers of autistic youth (N = 14) to understand the current state of therapeutic services and their values for the development of an intervention to address autistic youth aggressive behaviors, when present. RESULTS: Five primary themes were generated from qualitative interviews with the Autism CAB related to psychological interventions: (1) Barriers to Accessibility, (2) Effectiveness, (3) Therapist Competence, (4) Topics, and (5) Format. CONCLUSIONS: Recommendations from the Autism CAB encouraged a hybrid (in-person, group-based + individualized telehealth), time-limited PCIT model which incorporated autism-affirming psychoeducation and practice, childcare, as well as opportunities for community-building. The following article details the perspectives of members of a newly formed advisory board made up of autistic adults and caregivers of autistic youth. These individuals provided their insights into how a specific treatment for young autistic children and their caregivers should be structured. The intervention, Parent-Child Interaction Therapy (PCIT), has extensive research supporting its use in reducing aggression for autistic youth who experience these challenges; however, the intervention has not previously included the perspectives of autistic community members to create an affirming protocol. From the interviews, five primary themes were generated: (1) Barriers to Accessibility, (2) Effectiveness, (3) Therapist Competence, (4) Topics, and (5) Format. The manuscript highlights the direct quotes from advisory board members and details the next steps in the creation of a protocol for PCIT with autistic youth and their families. eng.

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19. Revathy J, M K. Cross-modal privacy-preserving synthesis and mixture-of-experts ensemble for robust ASD prediction. Front Neuroinform. 2025; 19: 1679196.

INTRODUCTION: Autism Spectrum Disorder (ASD) diagnosis remains complex due to limited access to large-scale multimodal datasets and privacy concerns surrounding clinical data. Traditional methods rely heavily on resource-intensive clinical assessments and are constrained by unimodal or non-adaptive learning models. To address these limitations, this study introduces AutismSynthGen, a privacy-preserving framework for synthesizing multimodal ASD data and enhancing prediction accuracy. MATERIALS AND METHODS: The proposed system integrates a Multimodal Autism Data Synthesis Network (MADSN), which employs transformer-based encoders and cross-modal attention within a conditional GAN to generate synthetic data across structural MRI, EEG, behavioral vectors, and severity scores. Differential privacy is enforced via DP-SGD (ε ≤ 1.0). A complementary Adaptive Multimodal Ensemble Learning (AMEL) module, consisting of five heterogeneous experts and a gating network, is trained on both real and synthetic data. Evaluation is conducted on the ABIDE, NDAR, and SSC datasets using metrics such as AUC, F1 score, MMD, KS statistic, and BLEU. RESULTS: Synthetic augmentation improved model performance, yielding validation AUC gains of ≥ 0.04. AMEL achieved an AUC of 0.98 and an F1 score of 0.99 on real data and approached near-perfect internal performance (AUC ≈ 1.00, F1 ≈ 1.00) when synthetic data were included. Distributional metrics (MMD = 0.04; KS = 0.03) and text similarity (BLEU = 0.70) demonstrated high fidelity between the real and synthetic samples. Ablation studies confirmed the importance of cross-modal attention and entropy-regularized expert gating. DISCUSSION: AutismSynthGen offers a scalable, privacy-compliant solution for augmenting limited multimodal datasets and enhancing ASD prediction. Future directions include semi-supervised learning, explainable AI for clinical trust, and deployment in federated environments to broaden accessibility while maintaining privacy.

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20. Risberg A, Edner A. Long-Term Beneficial Effects of Dog Assisted Therapy on Depressive Symptoms in a Patient with Atypical Autism. Int Med Case Rep J. 2025; 18: 1553-6.

This single-case study was conducted on a 34-year-old woman diagnosed with therapy-resistant depression and co-occurring atypical autism. The subject had been kept on the same medications for eight years despite her condition not improving and at the same time experiencing side effects. Previous studies and patient experiences suggest that many physicians are reluctant to end prescribed medication even if the patient is experiencing inadequate benefits and questionable effects. Co-occurring diseases often share overlapping symptoms, which can make accurate diagnosis and treatment more challenging, such as for patients with depression and autism. The problem becomes even more complicated when looking into the long-term treatment of depression occurring alongside autism spectrum disorder (ASD). The focus of conducting this case study was to determine the effect of DAT on a patient with confirmed therapy-resistant depression and ASD and if DAT would provide long-term benefit for the subject. The study’s results indicate that the patient experienced both quick improvement and long-term positive outcomes of DAT and is now in her 10th-year symptom-free.

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21. Shen J, You J, Wang W, Yang W, Zhao W, Zhao J, Ding H, Xi Y, Huang H. Imbalanced nutrition and increased dietary inflammatory index in children with autism spectrum disorder: associations with neurodevelopmental disorders. Front Nutr. 2025; 12: 1705682.

BACKGROUND: The incidence rate of autism spectrum disorders (ASDs) has been rising; this study aimed to explore the relationship between nutritional intake and neurodevelopment in children with ASDs. METHODS: This study is a case-control cross-sectional comparison including 50 children with ASDs and 50 typically developing controls. A total of 500 children with neurodevelopmental disorders and 500 typically developing (TD) children were recruited based on clinical diagnosis to compare levels of inflammation. Among them, 50 children were diagnosed with ASDs based on DSM-5 criteria by experienced developmental behavioral pediatricians. A total of 50 typically developing children were matched with the 50 children with ASDs. Dietary surveys, Autism Diagnostic Observation Schedule (ADOS), and physical development evaluations were conducted on these 100 children. RESULTS: The children’s dietary inflammatory index (C-DII), systemic immune inflammatory index (SII), and systemic inflammatory response index (SIRI) in the ASD group were significantly higher compared to the TD group (p<0.05). A positive correlation was observed between C-DII and SII (r = 0.323, p = 0.022), as well as SIRI (r = 0.283, p = 0.046). The dietary diversity in the ASD group was lower than that of the TD group, with a higher prevalence of picky eating behaviors in the ASD group. After adjusting for demographic characteristics, the C-DII may be correlated with ASD [odds ratio (OR) = 1.842, 95% confidence interval (CI) = 1.114 ~ 3.046, p = 0.017]. CONCLUSION: Children with autism spectrum disorders (ASD) displayed higher C-DII scores. The results of this study suggest that there may be a correlation between C-DII and the neurodevelopment of children with ASD, not causality. Inflammatory dietary patterns may represent a modifiable factor linked to neurodevelopmental outcomes.

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22. Taylor BJ, Pedersen KA, Riddell ER, Andalib Y, Tory B, Siegel M. Beyond challenging behaviors, sleep maintenance problems in autistic youth at the time of hospitalization are associated with increased caregiver strain. Sleep Med. 2025; 138: 108695.

PURPOSE: Autistic children are at increased risk for psychiatric hospitalization for challenging behaviors. Sleep problems may increase this risk due to the added strain they place on caregivers and their ability to maintain safety at home. We evaluate if caregiver-reported sleep problems in autistic children at the time of the child’s hospital admission predict caregiver reported stress and self-efficacy, above and beyond the severity of the child’s challenging behaviors. METHODS: Participants included 598 autistic children (ages 4-20) admitted to specialized psychiatric inpatient units and a primary caregiver. Caregivers reported if their child had sleep initiation and/or sleep maintenance problems. Caregivers completed the Parenting Stress Index-Short Form and Difficult Behavior Self-Efficacy Scale. Hierarchical linear regression models examined associations between sleep problems and caregiver outcomes, controlling for child irritability, and both household- and child-level characteristics. RESULTS: Fifty-nine percent of children had a caregiver-reported sleep problem. Sleep maintenance problems were significantly associated with increased parental distress, more dysfunctional parent-child interactions, and greater perception of the child as difficult to manage, above and beyond challenging behavior severity and other covariates. Sleep initiation problems were unrelated to caregiver outcomes. Self-efficacy in single caregivers and those in lower-income households was more negatively impacted by sleep problems than other caregivers. CONCLUSIONS: Sleep maintenance problems may independently contribute to caregiver strain above and beyond challenging behaviors. Social and financial resources may buffer against the negative effect of sleep problems. Preventative interventions targeting sleep may provide needed support for vulnerable families.

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23. Viscomi MP, Ziętek MM, Sampino S. Embryonic and placental factors are linked with the development of autism-like behaviors in the BTBR mouse model. Neuroscience. 2025; 593: 18-28.

Neurodevelopmental disorders arise from the interplay between genetic and maternal influences during prenatal life. Using the BTBR T(+)Itpr3(tf)/J (BTBR) mouse model of idiopathic autism and the C57BL/6J (B6) control strain, we examined how embryonic genotype and maternal environment interact to shape placental development, fetal growth, and postnatal behavior. Quantitative analyses of fetal and placental weights confirmed strain- and stage-specific growth restriction in BTBR conceptuses (n = 18-35 conceptuses from 3 litters per strain). Morphological assessment further demonstrated a substantial strain effect on placental layers, characterized by enlarged labyrinth compartments and reduced glycogen stores in BTBR placentas. Through reciprocal embryo transfers (n = 3 litters per strain combination), we found that maternal strain predominantly determined placental morphology: BTBR and B6 conceptuses developed placentas that mirrored the histological architecture of their foster mothers. In contrast, autism-like behaviors remained specific to BTBR offspring, regardless of the maternal strain, indicating a prevalent embryonic genotype effect on behavioral outcomes. Placental transcriptomic profiling (n = 4 conceptuses per strain) revealed an enrichment in lipid metabolism, nutrient transport, and extracellular matrix remodeling pathways. Together, these findings indicate that maternal factors primarily shape placental architecture, whereas embryonic determinants are linked with the development of autism-like behaviors in the BTBR mouse model. These insights advance our understanding of early-life determinants of autism and suggest placental metabolism as a potential target for early diagnosis of neurodevelopmental risk.

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24. Yao Y, O’Sullivan B, Mondal TK, Uddin MN, Manley K, Graf J, Lawrence DA. Mitochondrion-Mediated Metabolism and Microbiome Biodiversity Influence Autism-alike Behaviors. J Neurol Transl Neurosci. 2025; 10(1).

BACKGROUND: The BTBR T (+) Itpr3(tf) /J (BTBR) strain has autism spectrum disorder (ASD)-like behaviors, which has been associated with mitochondrial dysfunction. Therefore, a new mouse strain was developed. The BTBR-mt(B6) strain has the nuclear genome of BTBR but mitochondria from C57BL/6J (B6) mice, which have normal behaviors and immunity. The BTBR-mt(B6) strain had more normal behavios and immunity. Therefore, the mechanisnisms associated with the improvements were investigated. AIM: Since replacement of mitochondria in BTBR mice improved behavior and some immune differences, the associated mechanisms were researched. METHODS: Since mitochondria functions affect gut microbiota and metabolomics, the bacteria in fecal samples and metabolites in the blood and organs including the brain were investigated. Microbiome sequences were retrieved from Illumina BaseSpace. Genetic and molecular changes incuding metabolomics were assayed. RESULTS: The fecal microbiomes of BTBR, B6 and BTBR-mt(B6) mice were different from each other. The serum and brain cholesterol levels were intermediate between males of the BTBR and B6 strain. The liver PPARγ level also was intermediate between the BTBR and B6 strain which may relate to the BTBR-mt(B6) intermediate amount of lipid in the liver. The BTBR-mt(B6) mice also had an intermediate number of T cells in the white adipose tissue compared to the BTBR and B6 mice. Complex IV of the ETC in the liver was slightly lower in the BTBR-mt(B6) mice than B6 mice. The BTBR-mt(B6) strain lost production of IgG to brain antigen that is observed in BTBR mice. CONCLUSION: The mitochondrial shift is shown to affect fecal microbiota, mitochondrion-dependent metabolism affecting lipid accumulation, the levels of cholesterol in the brain and serum, and brain expression of myelin basic protein (MBP) and 2′,3′-cyclic nucleotide 3′-phosphodiesterase (CNPase), which improves myelination in BTBR-mt(B6) brains. The metabolite and microbiome differences likely relate to mitochondrial/nuclear differences affecting metabolism, immunity, and behavior.

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25. Zhu EH, Yip BH, Fyfe C, Merzon E, Kodesh A, Askling J, Reichenberg A, Yin W, Levine SZ, Sandin S. Maternal rheumatoid arthritis and the risk of offspring autism spectrum disorder: two national birth cohorts and a meta-analysis. Mol Autism. 2025; 16(1): 61.

BACKGROUND: Prenatal maternal rheumatoid arthritis (RA) is postulated to increase the risk of offspring with Autism Spectrum Disorder (ASD), yet findings of the association are inconsistent, potentially owing to small sample sizes and insufficient consideration of the timing of RA onset. This study aimed to examine the association between maternal RA, particularly its timing, and offspring ASD risk. METHODS: Two Israeli birth cohorts with national coverage and a meta-analysis were analyzed. Two harmonized birth cohorts of individuals born between 2003 and 2014 from Israeli Health Maintenance Organizations were followed up to 2021–05-01. Meta-analysis included all studies published up to 2023–06-07. Two exposures differentiated the timing of RA onset through maternal RA diagnosed before or after delivery. The association between maternal RA and the risk of offspring ASD was quantified by separate and pooled hazard ratios (HRs) from Cox proportional hazards regression with adjusted confounders. In the meta-analysis, the association was quantified using odds ratios (OR) fitted with random effects models with sensitivity analyses testing heterogeneity. RESULTS: Two Israeli birth cohorts included Cohort I (Population = 251,903; ASD = 1,939 [0.77%]) and Cohort II (Population = 309,696; ASD = 3,008 [0.97%]), contributing a total of 5.9 million person-years. Meta-analysis included 13 eligible studies (9 eligible estimates, population = 4,015,055, ASD = 45,124). Maternal RA before delivery increased the risk of offspring ASD (Cohort I HR = 1.55, 95% CI = 0.98–2.46; Cohort II HR = 1.83, 95% CI = 1.30–2.58; Combined I + II HR = 1.77, 95% CI = 1.45–2.17. Meta-analysis: OR = 1.57, 95% CI = 1.31–1.87). LIMITATIONS: Very few cases of seronegative RA compared to seropositive cases; RA subtype analysis was not feasible. It is important to acknowledge that the inclusion of the exposure “RA after delivery” also encompasses future RA information after the diagnosis of ASD, which may introduce biases. The association between RA drugs and offspring ASD risk has not been established due to a lack of data. CONCLUSIONS: Drawing on the strengths of two parallel birth cohorts from Israel and supported by meta-analysis, the current study indicates a modest but robust increase in the risk of ASD among offspring of mothers diagnosed with RA before delivery, but not when diagnosed only after delivery. This temporal specificity argues against shared genetic etiology and points toward maternal inflammatory status during pregnancy as a causal factor in offspring ASD risk. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00694-w.

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