1. Alharmoodi K, Bapakunhi D, Andrews A, Akasheh H, Shoka A. Managing Medically Severe Self-Injury in Borderline Personality Disorder and Autism: A Case Report of Self-Induced Toe Gangrene. Cureus. 2025; 17(9): e92509.

Medically severe self-injury (MSSI) in individuals with emotionally unstable personality disorder (EUPD) and co-occurring autism spectrum disorder (ASD) can be life- or limb-threatening, requiring urgent multidisciplinary intervention. We report a 31-year-old woman who developed self-induced toe gangrene following prolonged ligature application. Despite systemic stability, conservative management was pursued due to preserved vascular integrity, while psychiatric risk necessitated detention under the Mental Health Act. This case underscores the complex clinical, ethical, and legal challenges in balancing patient autonomy with safety, highlighting the importance of individualized, coordinated care across psychiatric, medical, and surgical teams.

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2. Benatov J. Interpersonal Psychotherapy for Autistic Individuals Experiencing Depression: An Adapted Clinical Framework. Am J Psychother. 2025: appipsychotherapy20240069.

Rates of depression among individuals with autism are notably high. Mental health services are often inaccessible, and very few interventions are adapted to their needs. Interpersonal psychotherapy (IPT) can be relevant to treating autistic individuals’ depression but needs to be adapted. This article presents an adapted IPT framework for treating autistic individuals who have depressive symptoms (IPT-Au). The framework integrates a neurodiversity-informed approach with the classic IPT model along with several key adaptations. IPT-Au accounts for the tridirectional dynamics of interpersonal interactions, depressive symptoms, and autistic lived experience. This model provides a framework for implementing IPT with autistic individuals who have verbal skills suitable for brief psychotherapy.

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3. Biagi F, Iani C, Biagiotti L. The use of the social robot NAO in medical settings: how to facilitate interactions between healthcare professionals and patients with autism spectrum disorder. Front Psychiatry. 2025; 16: 1675098.

OBJECTIVES: This study investigates how to facilitate the use of the social robot NAO in medical settings to support interactions with children diagnosed with Autism Spectrum Disorder (ASD). The objective was to develop intuitive control methods that enable healthcare professionals to easily integrate the robot into clinical practice. METHODS: Two control modes were designed: Puppet mode, where clinicians manually operate the robot via a graphical console, and Assistant mode, where a Large Language Model translates clinicians’ spoken requests into robot actions and dialogue. Twenty-three doctors evaluated both modes through video demonstrations and completed questionnaires assessing usability, usefulness, and ethical acceptability. RESULTS: Both modes were considered effective and user-friendly. Assistant mode was perceived as more intuitive and adaptable, facilitating seamless interaction, whereas Puppet mode was judged slightly more reassuring for patients and somewhat more appropriate in terms of robot actions. CONCLUSION: Overall, both approaches were positively received, with Assistant mode emerging as the preferred option for integration into clinical workflows due to its perceived simplicity and flexibility. These findings highlight clinicians’ positive perceptions of two novel control modes and emphasize NAO’s potential to enhance patient engagement and reduce stress. Further empirical validation with children in real clinical trials is warranted to confirm these benefits and optimize robot-assisted interventions in ASD care.

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4. Blake M, Nikahd M, Hyer JM, Patterson BW, Wolf BJ, Bishop L, Hand BN. Comparing Autistic and Non-Autistic Older Adults’ Fall-Related Hospitalization Care and Outcomes. J Gen Intern Med. 2025.

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5. Duan Z, Wang X, Zhang Z, Wang X, Zhang Y, Du X. Digital and telehealth behavioral sleep interventions for improving sleep outcomes in children and adolescents with autism spectrum disorder: a systematic review and meta-analysis. Sleep Med. 2025; 136: 106870.

BACKGROUND: Sleep problems are highly prevalent in children with Autism Spectrum Disorder (ASD), negatively impacting core symptoms, daytime functioning, and family well-being. While behavioral interventions are the first-line treatment, access is often limited. Digital and telehealth delivery models offer a promising approach to increase accessibility. This review systematically evaluates the effectiveness of these technology-based behavioral sleep interventions for youth with ASD. METHODS: Following PRISMA guidelines, we systematically searched five databases for randomized controlled trials (RCTs) and non-randomized studies (NRCTs) of digital or telehealth behavioral sleep interventions for youth (2-18 years) with ASD. The primary outcome was child sleep. Two reviewers independently screened studies, extracted data, and assessed the risk of bias. We conducted random-effects meta-analyses and sensitivity analyses. RESULTS: 12 studies met inclusion criteria: 6 RCTs (N = 349) and 6 NRCTs (N = 57). Across RCTs, digital and telehealth interventions significantly improved parent-reported sleep problems compared with controls (pooled SMD = -0.57, 95 % CI -1.10 to -0.03; I(2) = 62 %), reflecting a small-to-moderate benefit. Improvements were most evident for sleep initiation outcomes such as sleep-onset delay. In contrast, pooled NRCT results indicated large apparent gains (SMC = -1.03) but with wide confidence intervals and substantial heterogeneity, limiting interpretability. CONCLUSION: Evidence from randomized trials supports that digital and telehealth-delivered behavioral sleep interventions can yield small-to-moderate improvements in caregiver-reported sleep outcomes among autistic youth-particularly in reducing time to sleep onset. Non-randomized findings are encouraging but methodologically uncertain. Future research should prioritize adequately powered RCTs using objective sleep measures, standardized intervention frameworks, and longer follow-up to strengthen causal inference and inform scalable best-practice models.

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6. Hou Y, Huang W, Lin L, Li X, Dai S, Shen Y, Ou J. Patterns and Stability of Repetitive and Restricted Behaviors in Chinese Children With Autism: A 1-3 Year Follow-Up Study. Autism Res. 2025.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by significant clinical heterogeneity. Sex-based differences are observed in the core symptoms of ASD. This study investigated the patterns and stability of restricted and repetitive behaviors (RRBs) among Chinese children with ASD. For cross-sectional comparisons, researchers recruited 1760 male and 350 female participants whose ages ranged from 4 to 17 years. The Social Responsiveness Scale-2 (SRS-2) was used to measure the core symptoms of ASD. Compared with males, females exhibited lower severity and incidence rates of RRB both overall and at the symptom level. Furthermore, multigroup confirmatory factor analyses demonstrated that sex-related differences did not significantly affect the conceptualization of RRBs. An online follow-up study involving a subset of participants (166 males and 41 females) revealed that RRB symptoms remained stable between the two visits for males; however, only specific symptoms were highly consistent over time for females. This study revealed potential sex-related differences in RRBs among Chinese individuals with ASD and revealed sex-dependent variations in symptom-level presentation patterns and stability. These findings may contribute to a better understanding of the mechanisms underlying sex-related differences and aid in the development of sex-specific diagnostic criteria.

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7. Liao L, Zubairi M. A Collaborative Approach to Assessment and (Non)Diagnosis of Autism. JAMA Pediatr. 2025.

This Viewpoint discusses the assessment and diagnosis of autism spectrum disorder. eng.

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8. Lin X, Deng S, Li X. Multilevel Resting-State Dysfunctional Connectivity in People With Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Autism Res. 2025.

Autism spectrum disorder (ASD) has been linked to dysfunctional communication among brain regions and functional networks, as reflected by abnormal resting-state functional connectivity (rsFC). However, the consistent findings thus far have been elusive. To examine whether individuals with ASD show rsFC differently than healthy individuals at multiple seed levels, we performed a systematic analysis and meta-analysis at all prior seeds, functional network seeds, and single seed levels. This study was registered in the PROSPERO (registration number CRD42024559418). Publications were identified in PubMed, Embase, and PsycINFO from database inception until December 20, 2023. Publications were included that provided seed-based whole-brain rsFC contrasts between a sample with ASD and controls at rest. Seed and peak effect coordinates and intergroup effects were extracted for analysis. Random-effects meta-analysis was performed using the Seed-based d Mapping software. This study included 26 studies from 709 people with ASD and 705 controls. The frontal regions, right medial cingulate gyrus (MCG) (g = -0.51; 95% CI, -0.69 to -0.33) of the ventral attention network (VAN), and medial left superior frontal gyrus (g = -0.42; 95% CI, -0.60 to -0.24) of the DMN were the most robust peak clusters at all prior seeds, functional network seeds, and medial prefrontal cortex seed level respectively. The findings not only support DMN dysfunction in people with ASD but also provide the first evidence of meta-analysis to suggest VAN dysfunction in individuals with ASD.

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9. Liu S, Zeng D, Yi C, Zhu M. Neurocognitive mechanisms underlying autism spectrum disorders: a literature review. Front Psychiatry. 2025; 16: 1633658.

INTRODUCTION: Autism spectrum disorder (ASD) is associated with complex neurocognitive alterations that impact social cognition, executive function, and sensory processing. Understanding these mechanisms is essential for advancing diagnosis and treatment strategies. METHODS: We conducted an integrative review of recent findings from structural neuroimaging, functional connectivity, molecular biology, cognitive studies, genetics, and epigenetics. Interdisciplinary approaches were summarized to examine regulatory mechanisms involved in neural development and function, as well as their impact on ASD pathophysiology. RESULTS: Evidence from brain imaging studies demonstrates notable structural changes and disrupted neural circuit connectivity, affecting both local and global communication within the brain. Neurotransmitter system dysregulation, particularly involving glutamatergic and GABAergic pathways, contributes to excitation-inhibition imbalance, a hallmark of ASD. Genetic and epigenetic research highlights familial inheritance patterns and gene-environment interactions regulating neurodevelopment. Advancements in neuroimaging biomarkers have improved early diagnosis, while customized treatment approaches targeting specific neurobiological elements are associated with better clinical outcomes. DISCUSSION: This review underscores the importance of a multidimensional framework that integrates imaging, molecular biology, and genetics in understanding ASD. The findings emphasize the heterogeneity of ASD and point to the necessity of individualized treatment strategies. Future research should prioritize early biomarker identification and the development of personalized therapies responsive to neural system complexity and diverse treatment outcomes.

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10. Murray CA, Hayden NK, Gordon-Brown A, Flynn S, Bonetree C, Harper A, Kassa C, Mahon D, McGee C, Hastings RP. Implementation of Online Mindfulness With Peer Mentoring for Parent and Sibling Carers of People With Intellectual and Developmental Disabilities. J Intellect Disabil Res. 2025.

BACKGROUND: There is promising evidence for the adaptation of online mindfulness interventions for parent carers of individuals with intellectual and developmental disabilities by including supplementary peer support sessions. However, there remain questions about wider implementation beyond the research setting and the inclusion of more diverse populations of family caregivers, including adult siblings and family carers who less typically receive support and are often under-represented in research. METHOD: One hundred and one family carers (n = 58 parents, n = 43 adult siblings) were provided with access to Be Mindful (an online mindfulness intervention) with additional telephone peer mentor support. Participants were asked to complete baseline and follow-up questionnaires before and after the intervention in a pre-post pre-experimental design, and engagement with the intervention and peer support was examined. RESULTS: Recruitment was successful in targeting more diverse groups, including adult siblings. Intervention completion was low overall (n = 37). Parent and sibling carers made differing levels of progress with the intervention and peer support calls, although 81.8% of those who completed the intervention before the end of the project had also received all three support calls. Preliminary follow-up data, though with low retention, indicated improvements in psychological wellbeing for family carers over time. CONCLUSIONS: The intervention and additional telephone-guided support were received well by family carers of people with intellectual and developmental disabilities, although further work is needed to determine the feasibility of future implementation.

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11. Paranjapye A, Ahmad R, Su S, Waldman AJ, Phillips-Cremins JE, Zhang S, Korb E. Autism spectrum disorder-risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons. Genome Res. 2025.

Autism spectrum disorder (ASD) is a highly heterogenous neurodevelopmental disorder with numerous genetic risk factors. Notably, a disproportionate number of risk genes encode transcription regulators including transcription factors and proteins that regulate chromatin. Here, we test the function of nine such ASD-linked transcription regulators by depleting them in primary cultured neurons. We then define the resulting gene expression disruptions using RNA sequencing and test effects on neuronal firing using multielectrode array recordings. We identify shared gene expression signatures across many ASD-risk genes that converge on the disruption of critical synaptic genes. Fitting with this, we detect robust disruptions to neuronal firing throughout neuronal maturation. Together, these findings provide evidence that the loss of multiple ASD-linked transcriptional regulators disrupts transcription of synaptic genes and has convergent effects on neuronal firing that may contribute to enhanced ASD risk.

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12. Plank IS, Yurova A, Pior A, Nowak J, Bierlich AM, Papazov B, Shi Z, Falter-Wagner CM. Are prediction error modifications domain specific in autism but domain general in ADHD?. Imaging Neurosci (Camb). 2025; 3.

In the last decade, several theories have proposed explanations of autism spectrum disorder (ASD) based on the Bayesian Brain hypothesis. Research on repetition suppression suggests that neural correlates of prediction errors in ASD might be domain specific with larger differences for faces than for objects. Contrastingly, research assessing mismatch negativity in attention-deficit/hyperactivity disorder (ADHD) indicates domain-generally modified prediction errors. Therefore, we captured neural correlates of prediction errors to colours and emotions in adults with ADHD or ASD to assess domain specificity of prediction error modifications. We used a multi-feature roving paradigm where we assessed predictive processes regarding unattended, task-irrelevant faces. We extracted task specific precision-weighted prediction errors and prediction strength for emotions and colours of the faces separately using a generative model, specifically a Hierarchical Gaussian Filter. While we found neural correlates of colour precision-weighted prediction errors and prediction strength as well as emotion prediction strength in the pooled sample regardless of group, we did not find any differences in neural correlates of emotion or colour precision-weighted prediction errors or prediction strength between our groups. These results suggest preserved neural correlates of precision-weighted prediction errors in ASD and ADHD for low-level visual features and potentially complex social information.

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13. Ramos JS, Alexander J, Dalleck LC, Drummond C, Beleigoli A, Lange B, Ellison C. The impact of a workplace virtual reality-delivered exercise program on central hemodynamics in people with developmental disability living in Australia: A pilot randomised waitlist-controlled study. Prev Med Rep. 2025; 59: 103256.

OBJECTIVES: Abnormalities of central hemodynamic indices (CHI) elevate risk of cardiovascular events (CVE) and all-cause mortality. Most people with developmental disability do not meet the exercise recommendations necessary to improve health outcomes, including CHI. The aim of this pilot study was to investigate the impact of a workplace integrated virtual reality-delivered exercise (VR-E) program compared with no intervention on CHI in people with developmental disability. METHODS: Seventeen people with developmental disability employed at a disability service were randomised into VR-E (n = 8) or waitlist-control (n = 9). The VR-E group completed a 1-h supervised session at the workplace, three times/week for eight weeks. Following an eight-week period, the waitlist-control group also underwent the program. CHI were assessed at pre- and post-intervention via cuff oscillometry. RESULTS: There are 21 complete CHI data (VR-E, n = 13; waitlist-control, n = 8) from pre- to post-8-week period. There were no significant between-group differences in CHI changes from pre- to post-8-week period (p > 0.05). However, although not statistically significant between-groups (augmentation index at 75 beats per minute [AIx75], p = 0.7; forward pressure wave [Pfw], p = 0.6; backward pressure wave [Pbw], p = 0.7), the VR-E group showed a small improvement in CHI including AIx75 (-4 ± 11 %, d = 0.23), Pfw (-1.5 ± 8 mmHg,d = 0.18), and Pbw (-0.7 ± 5 mmHg,d = 0.25). Whereas the waitlist-control group showed negligible changes in these CHI (AIx75, -1 ± 19 %, d = 0.06; Pf, 0.5 ± 4 mmHg, d < 0.01; Pb, <0.01 ± 4 mmHg, d < 0.01) from pre- to post-study. CONCLUSIONS: This pilot study suggests that a workplace-integrated VR-E may be a viable intervention to improve CHI, which may indicate reduced CVE risk and all-cause mortality in people with developmental disability.

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14. Soto-Romero DG, Valdez-Montero C, Villa-Rueda AA. [Gender-based analysis of experiences of caregivers for autistic infants based on a gender perspective]. Cien Saude Colet. 2025; 30(suppl 2): e16242023.

Upon receiving the diagnosis of autism, family dynamics are reconfigured based on caregiving, and gender stereotypes and roles become more visible, attributing a greater workload to women in caregiving activities. The objective of this study was to analyze the experiences of primary caregivers related to the care of autistic infants in Culiacán, Sinaloa, Mexico, from the perspective of gender as a critical category. This was a qualitative study with a descriptive-analytical and interpretive design, based on the life story as a source of the biographical method. Snowball sampling was used, and semi-structured interviews were applied to 10 primary caregivers. The interviews were coded using Atlas.ti software, and a thematic analysis of the findings was developed. Two themes were identified, the first being the conflicts of the parents regarding the diagnosis, which are generated from the different perceptions they had about motherhood and fatherhood. The second is the reconstruction of maternity and paternity in relation to disability, where overprotection is perceived as an anticipated reaction to the uncertain future of their autistic sons and daughters. The study indicated that it is important to acknowledge care as a practice that should be addressed by social policies.

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15. Suominen EH, Chen CA, Dunlop A, Saunders R, Mandy W. Sex/Gender Differences in Internalizing Problems of Autistic Children and Young People: A Systematic Review and Meta-Analysis. J Am Acad Child Adolesc Psychiatry. 2025.

OBJECTIVE: Findings on the presence and direction of a sex/gender difference in internalizing problems for autistic children and young people (CYP) are inconsistent. This systematic review investigated whether autistic boys and girls differ in internalizing problem severity. METHOD: Studies comparing internalizing problems (including depression and anxiety) in autistic boys and girls using validated, continuous measures were included. We searched Medline, Embase, PsycINFO, ASSIA and Web of Science. The Joanna Briggs Institute appraisal checklist for cross-sectional studies was used to assess risk of bias. Random-effects meta-analyses estimated effect size differences for (1) overall internalizing, (2) anxiety symptoms and (3) depression symptoms between autistic boys and girls. Moderation effects of age, IQ, and study methodology were examined through meta-regression. RESULTS: We identified 56 studies from 4,093 non-duplicate records (N= 13,410 autistic CYP, girls n=3,657, boys n=9,753). Autistic girls experienced more anxiety symptoms than boys (g= 0.13 [0.03; 0.23], p=0.015). This effect was larger in community (versus clinic) samples (β=0.22, p=0.027), and in samples with higher average age (β= 0.037, p=0.014) and IQ (β=0.013, p=0.013). Autistic girls also showed higher overall internalizing (g=0.10[-0.04; 0.23], p= 0.148) and depression symptoms (g=0.12[-0.01; 0.25], p=0.067), but these differences did not reach significance. Heterogeneity for all pooled sex/gender differences was high. CONCLUSION: In autistic CYP, girls show more anxiety symptoms than boys, and this is most pronounced in older girls and those with higher IQ. We did not find strong evidence for sex/gender differences in overall internalizing problems or depression symptoms. However, the high heterogeneity cautions against drawing conclusions with certainty.

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16. Tang Y, Lin Q, Yu Y, Chen D. EEG super-resolution with Laplacian Regularized Coupled Matrix Decomposition: A case study of Autism Spectrum Disorder EEG enhancement. Artif Intell Med. 2025; 170: 103284.

EEG Super-resolution (SR) has attracted increasing attention for neuroscience research when fine-grained spatial information is demanding. However, existing SR methods are subject to the performance bottlenecks due to insufficient high-resolution EEG under the condition of few participants undergoing high-density EEG acquisition and unclear intrinsic spatiotemporal relationship amongst EEG channels on the scalp. To tackle the issues, this study proposes a Laplacian Regularized Coupled Matrix Decomposition (LRCMD) model for EEG SR, which takes in HR EEG of a small amount of initial participants and generates HR EEG from the given LR counterparts of new participants: (1) LRCMD first utilizes a Gaussian kernel function according to the spatial distribution of electrodes conforming to a 3-D scalp model to measure the brain structural connectivity amongst EEG channels, (2) Coupled matrix decomposition model is established to transform the HR EEG and the corresponding LR ones to latent source space with common mapping rule, where brain structural connectivity acts as Laplacian regularization to highlight the core mapping rule, (3) LRCMD applies Alternating Direction Method of Multipliers solver to cope with the decomposition model and derive the mapping matrix along with latent source of HR EEG, which are later leveraged to complete the SR reconstruction of LR EEG from new participants. Experimental results on ASD EEG dataset indicate that (1) LRCMD excels in individual EEG super-resolution reconstruction with normalized mean squared error decreased by 2.14% and the improvements of signal-to-noise ratio, Pearson’s correlation coefficient respectively reaching 0.52 dB, 1.17%, and (2) the reconstructed EEG by LRCMD demonstrates superiority to LR alternative in ASD discrimination and functional connectivity analysis of ASD.

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17. Venezia I, Passarini S, Guerrera S, Apicella M, Alesi V, D’Elia G, Sallicandro E, Bontempo P, Bartuli A, Sinibaldi L, Vicari S, Valeri G. Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome. J Dev Behav Pediatr. 2025.

OBJECTIVE: Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments. METHODS: Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning (Leiter-3, Adaptive Behavior Assessment System-Second Edition), autistic traits (Autism Diagnostic Observation Schedule-2 [ADOS-2], Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire, Social Responsiveness Scale, Repetitive Behaviors Scale-R), co-occurring psychopathology (Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Swanson, Nolan, and Pelham-Forth Edition, Sleep Disturbance Scale for Children), and family functioning (Parenting Stress Index-Short Form, PedsQL). Parents were required to fill the Symptom Checklist 90 (SCL-90) and Autism-Spectrum Quotient (AQ) to gather information about their psychiatric co-occurrences and autistic traits. A molecular analysis was performed to confirm the genetic alteration. RESULTS: Two siblings inherited the duplication through maternal transmission, whereas 4 individuals had a de novo maternal duplication. No participant exhibited preserved cognitive abilities; 4 of 5 showed below average adaptive functioning and 2 of 6 received a diagnosis of ASD. ADOS-2 revealed greater difficulties in the Social Affect domain compared with the Repetitive and Restricted Behaviors domain (p < 0.05), findings confirmed by ADI-R (p < 0.05). K-SADS indicated clinical scores in 5 individuals, with anxiety disorder in 3 participants. High levels of parental stress and a poor quality of life were reported. The mother carrier of the duplication showed clinical scores on the "Positive Symptom Total" of the SCL-90 and on the AQ. CONCLUSION: Individuals with an in tandem 15q-11q13 duplication seems to exhibit cognitive and adaptive difficulties along with psychiatric co-occurrences and autistic traits. Parents, with or without the duplication, may experience psychopathological difficulties and impaired family functioning.

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18. Wu C, Li X, Wang H, Yang X, Liu Z. 3KO-NSCs ameliorate behavioral deficits and modulate gut microbiota in a VPA-induced C57BL/6 mouse model of autism. Front Immunol. 2025; 16: 1680179.

BACKGROUND: Autism spectrum disorder (ASD) involves complex neurological and gastrointestinal pathophysiology. Existing therapies rarely address the gut-brain axis connection. This study evaluated the therapeutic potential of immune-evasive human induced pluripotent stem cell-derived neural stem cells (3KO-NSCs) in a mouse model of ASD. METHODS: We used a valproic acid (VPA)-induced ASD model in C57BL/6 mice. Mice received systemic administration of 3KO-NSCs. Assessments included behavioral assays (social interaction, repetitive behaviors), hippocampal cytokine profiling (IL-6, TNF-α), 16S rRNA sequencing for gut microbiota analysis, immunohistochemistry (Iba1(+) microglia), and ultrastructural synaptic analysis. RESULTS: 3KO-hiPSC-NSC treatment significantly ameliorated VPA-induced ASD-like behaviors. It reduced hippocampal neuroinflammation (decreased IL-6 and TNF-α) and attenuated microglial overactivation (reduced Iba1+ cells), correcting synaptic pruning abnormalities. Concurrently, treatment restored gut microbiota diversity (increased Shannon index), enriching Bacteroides and reducing pro-inflammatory Proteobacteria. CONCLUSIONS: 3KO-NSCs exert dual therapeutic effects by mitigating central neuroinflammation and rebalancing gut microbiota. This provides the first direct evidence that stem cell therapy can modulate the gut-brain axis to treat ASD, positioning 3KO-NSCs as a novel bifunctional therapeutic strategy.

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19. Zhang CY, Chen YL, Hou F, Li YZ, Wang WX, Guo L, Zhang CX, Li L, Lu CY. Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population. World J Psychiatry. 2025; 15(10): 108776.

BACKGROUND: Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder (ASD). However, most studies have primarily used single candidate gene typing strategies (such as targeted polymerase chain reaction technology), and current findings remain inconsistent. AIM: To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children. METHODS: Whole-exome sequencing (WES) was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD, focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects. A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD. RESULTS: WES was performed on 70 children with ASD, and the case-control study included 170 children with ASD and 170 healthy controls. WES revealed that 84.3% (59/70) of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways. MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models (P < 0.05). The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations, body and object use, social and adaptive skills, total scores on the Autism Behavior Checklist, as well as emotional reactivity, nonverbal communication, and activity level on the Childhood Autism Rating Scale (P < 0.05). CONCLUSION: Most children with ASD carry deleterious variants in folate metabolism-related pathways. MTHFR C677T and MTRR A66G mutations are significantly associated with ASD.

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