1. Anderer S. New Study Finds No Link Between Acetaminophen Use in Pregnancy and Autism. Jama. 2026; 335(21): 1834.

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2. Clarke EB, Lord C, Bal VH. Limited Discrepancy Between Cognitive Ability and Daily Living Skills in Autism: A Longitudinal Study From Ages 2-25. Autism Res. 2026: e70280.

Many autistic individuals with average or higher cognitive abilities (also referred to as intelligence quotient; IQ) exhibit weaker than expected daily living skills (DLS). However, existing evidence is primarily cross-sectional. This study examined: (1) how IQ-DLS discrepancies develop from early childhood through early adulthood, (2) whether childhood factors (e.g., autism features, non-verbal IQ) predict these developmental pathways, and (3) how IQ-DLS discrepancy trajectories relate to adult experiences (e.g., employment, well-being, relationships). Analyses included 92 individuals from the Longitudinal Study of Autism with average or better IQ and repeated assessments of IQ and DLS from ages 2-25 years. Developmental patterns in IQ-DLS discrepancy scores were identified using group-based trajectory modeling. Two trajectory groups were identified: IQ = DLS (commensurate cognitive and daily living skills) and IQ > DLS (weaker DLS than expected for IQ). Most participants had commensurate IQ and DLS across development. When discrepancies emerged, they did so gradually, becoming apparent by mid-childhood. White participants were more likely to be in the IQ > DLS group; participant race was the only early childhood predictor of group membership. IQ-DLS discrepancy trajectories were not significantly associated with adult experiences. In contrast to existing literature, this study suggests autistic individuals with average or higher IQ may not always have persistent deficits in DLS relative to cognitive ability. When discrepancies occurred in this sample, they developed over time rather than being present from early childhood. These findings challenge deterministic assumptions about adaptive function in autism and highlight the importance of sustained opportunities to learn and practice DLS across development. In this study, we followed autistic people with average or higher cognitive ability from early childhood into adulthood to see how their cognitive ability and life skills developed together. Most participants had life skills that matched their cognitive abilities across development; for participants whose life skills fell behind, this gap appeared gradually in later childhood rather than early in life. These results differ from many earlier studies that have found autistic people with average or high cognitive ability have weaker life skills than expected and suggest that autistic people can develop life skills over time, especially when given opportunities to learn and practice. eng.

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3. Dai Z, Yang L, Li Z, Zhang X, Lu J, Wang W, Wang Y, Zhao S, Wang B. Correction: Altered Higher-Order Structural and Functional Connectivity Coupling in Autism Spectrum Disorder. J Autism Dev Disord. 2026.

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4. Daniel R, Bennett B, Edwards L, May P, Jacob R. The Five Essential Concepts of Developmental Medicine: A Medical Paradigm for People with Developmental Disabilities. South Med J. 2026; 119(6): 333-6.

Developmental disabilities and neurodevelopmental disorders (NDDs) are lifelong conditions that present complex medical challenges, particularly as individuals transition from pediatric to adult health care. Although these disorders typically manifest in cognitive impairment, motor dysfunction, seizures, and behavioral dysregulation, the degree of these symptoms can vary widely. This article introduces a structured clinical model known as the « Five Essential Concepts of Developmental Medicine, » designed to guide the care of adults with NDDs. These concepts focus on understanding childhood-onset brain dysfunction, identifying the specific neurodevelopmental diagnosis, recognizing complications, assessing secondary consequences, and addressing syndrome-specific conditions. The model emphasizes the need for individualized care to prevent diagnostic overshadowing and ensure comprehensive health management. The authors advocate for integrated, multidisciplinary care systems, highlighting the critical importance of tailored screenings, early diagnosis, and proactive management to improve the quality of life for individuals with NDDs and developmental disabilities. This approach aims to bridge the gap in health care for this underserved population, addressing their unique medical needs and ensuring equitable access to care throughout the lifespan.

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5. Floris M, Gentili C. Association between Problematic Internet and Mobile Phone Use, autistic traits, and psychological distress among adults: A cross-sectional survey. PLOS Ment Health. 2026; 3(6): e0000524.

Problematic Internet Use (PIU) and Problematic Mobile Phone Use (PMPU) are emerging public health concerns associated with various mental health conditions, including autistic traits. However, PIU and PMPU remain poorly understood, and the role of psychological distress as a contributing factor has not been fully clarified. This study examined frequency and associations of autistic traits, PIU and PMPU, and substance use in adults, accounting for psychological distress. An online cross-sectional survey was conducted among 420 Italian adults aged 18 – 65, to assess autistic traits (Autism Spectrum Quotient, AQ), PIU (Uso e Abuso di Internet-2, UADI-2), PMPU (Mobile Phone Problematic Use Scale for Adults, MPPUS), substance use (Alcohol, Smoking and Substance Involvement Screening Test, ASSIST), and psychological distress (Kessler Psychological Distress Scale, K10). Correlation analyses, MANCOVA and Multivariate Multiple Regression (MMR) were performed to examine associations between variables, controlling for psychological distress. Young adults (18-24 years) showed higher levels of Internet (M = 66.36, SD = 13.56, 95% CI [63.87, 68.85]) and mobile phone use (M = 61.41, SD = 14.25, 95% CI [58.92, 63.9]). Autistic traits correlated positively with both PIU and PMPU, while psychological distress was positively associated with all outcomes, including substance use in younger participants. MANCOVA indicated significant effects of autistic traits and psychological distress on outcomes. MMR showed that higher autistic traits predicted higher PIU and PMPU, while psychological distress additionally predicted substance use. Autistic traits and psychological distress were significantly associated with PIU and PMPU, with psychological distress showing stronger associations. PIU and PMPU may be specifically linked to autistic traits, whereas substance use may be more related to psychological distress, suggesting different pathways. Further efforts should prioritize interventions targeting distress and emotion-regulation skills, particularly among young adults and individuals exhibiting PIU and PMPU.

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6. Gray S, Fortuna J, Jones B, Lilley D, Maginn J. Sensory Processing in Sexuality-Based Services for Autistic Individuals: A Cross-Sectional Survey. J Autism Dev Disord. 2026.

PURPOSE: Research shows sensory processing impacts the personal experiences of autistic individuals, including sexual and intimate relationships. Despite this knowledge, sensory processing is not adequately addressed in sexuality-based services provided to this population. This study explores how professionals (teachers, therapists, sexologists, etc.) address sensory processing through the following research question: How is sensory processing currently being addressed in sexuality-based services for autistic individuals? METHODS: This 16-item exploratory survey was developed to examine how sensory processing is addressed by professionals providing sexuality-based services to autistic individuals. A survey link was shared with organizations who agreed to assist with recruitment. Participants had to hold a valid professional license, provide sex education, and have worked with autistic individuals within the last year. Data collection occurred over a period of two months. RESULTS: Survey respondents included 29 participants from nine disciplines. Thirteen respondents reported regularly evaluating sensory processing; whereas, 19 provided intervention. The primary reasons for not assessing or treating sensory processing was lack of training and resources, and standard practices. The proprioceptive and vestibular systems were addressed the least. Intervention approaches lacked clear evidence to support effectiveness and were primarily focused on treating hypersensitivity. Hyposensitivity or mixed sensory patterning (e.g., hyper and hyposensitivity) was largely overlooked. CONCLUSION: Currently, there are no known sexuality-based curricula specific to the sensory processing needs of autistic individuals. Additional research is needed to develop evidence-based, autism-specific resources that address sensory processing needs of this population.

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7. Hao ZJ, Wu QH, Li YL, Guo ZM, Li ZW, Wang G, Meng M, Yuan SL, Wufuer Y, Zhang MH, Chen J, Yang T, Chen MX, Zhu J, Qi-Hang W, Li Q, Yu SH, Lu M, Xiong HY, Feng YR, Dong MQ, Xu JH, Xu JL, Chen L, Yang HT, Miao JK, Zhu H, Yang B, Zhao HY, Shi XM, Bian S, Li TY, Hu RG. Anti-asthma drug montelukast induces autistic behaviors via disrupting neuronal retinoic acid signaling. Signal Transduct Target Ther. 2026; 11(1).

Autism spectrum disorders (ASD) affect approximately 1.0% of children worldwide with still increasing global prevalence. The fact that genetic factors contribute to less than 50% of ASD suggests some critical yet enigmatic roles of non-genetic factors in ASD etiology. Here, we reported that montelukast (MTK), a cysteinyl leukotriene receptor antagonist and one of the most commonly prescribed anti-asthma drugs, potently disrupted neuronal retinoic acid (RA) signaling and altered synaptic plasticity of the primary neurons from rat pre-frontal cortex (PFC). Prenatal or early postnatal exposure to MTK induced autistic-like behaviors in wild-type rats, which could be significantly alleviated by supplementing all-trans retinoic acid (atRA). MTK altered neuronal RA signaling and forebrain patterning in brain organoids derived from human embryonic stem cells through antagonizing RA in RA signaling. Meanwhile, molecular docking followed by biochemical validation strongly indicated that MTK could physically interact with RA receptors (RARs), e.g. RA receptor α (RARA). Furthermore, multi-center survey with a large Chinese ASD cohort suggested that MTK administration during early childhood might indeed increase the risk of ASD in children. Altogether, our findings have not only established MTK use as a yet unrecognized risk factor for human ASD, but highlighted the key importance of safer use of medicines to prevent ASD.

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8. Jeong JY. Sibling Brokerage: Recasting Sibling Roles as Systemic Labour Across Disability Service Systems. J Appl Res Intellect Disabil. 2026; 39(3): e70252.

BACKGROUND AND AIMS: The study examines sibling brokerage as a form of cultural, linguistic and institutional labour performed by siblings of individuals with intellectual and developmental disabilities from historically marginalised communities. METHODS: Ten adult sibling brokers were recruited and completed open-ended questionnaires. Data were analysed thematically, guided by conceptual frameworks of epistemic injustice. RESULTS: Findings reveal that sibling brokers serve as system navigators, translating institutional logics, advocating for services and rearticulating family knowledge. Their labour often began in childhood, was shaped by hegemonic expectations to fit into the system and was frequently unacknowledged or co-opted by professionals. CONCLUSION: Sibling brokerage is not ancillary but structurally embedded labour that compensates for systemic gaps in accessibility and inclusion. Future research should examine how such roles are institutionally produced and sustained and envision justice-oriented systems that recognise the expertise of sibling brokers. This study explores the experiences of siblings who help their families navigate disability services for a brother or sister with intellectual or developmental disabilities’ service access, namely, sibling brokers. Many of these sibling brokers, especially from culturally and linguistically diverse communities, take on important roles like translating, interpreting, filling out forms and advocating for services—often starting at a young age. Their work goes far beyond helping out at home; they are doing important tasks usually handled by trained professionals, yet their efforts are often overlooked or taken for granted. This research calls for greater recognition of sibling expertise and urges systems to support these siblings with appropriate acknowledgement. eng.

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9. Kartawy M, Ojha SK, Nimgampalle M, Amal H. Aberrant protein S-nitrosylation disrupts axonal development and metabolic homeostasis in a Cntnap2 mouse model of autism. Redox Biol. 2026; 95: 104234.

Protein S-nitrosylation (SNO) is a nitric oxide (·NO)-dependent post-translational modification that regulates various biological functions. Dysregulated SNO is involved in several brain disorders; however, its role in autism spectrum disorder (ASD) remains largely unexplored. This could be due to the transient nature and low abundance of SNO-modified proteins, which complicates their detection. Here, we employed SNOTRAP, a high-throughput mass spectrometry-based approach that captures, labels, and quantifies S-nitrosylated peptides at specific cysteines, to profile the cortical SNO-proteome in the Cntnap2 mouse model of ASD. Quantitative analysis identified significant alterations in S-nitrosylation across 76 peptides from 69 proteins. Among these, MAP1B, a key regulator of microtubule dynamics during axon formation, emerged as a prominent target, exhibiting exclusive S-nitrosylation at Cys1305 in the Cntnap2(-/-) cortex but not in WT. Consistently, Cntnap2(-/-) neurons displayed shortened axons, a phenotype that was rescued by pharmacological inhibition of ·NO signaling, linking aberrant S-nitrosylation to structural neuronal deficits. Beyond cytoskeletal regulation, pathway enrichment analysis revealed a significant influence of altered S-nitrosylation on metabolic networks, including glycolysis, the TCA cycle, pyruvate metabolism, and amino acid biosynthesis. Remarkably, many metabolic enzymes exhibited reduced or absent S-nitrosylation at specific cysteine residues, indicating a pathological shift in the SNO landscape. Consistent with these molecular changes, the Cntnap2(-/-) cortex exhibited an elevated NADH/NAD(+) ratio, reflecting altered redox balance and thus dysregulated cellular metabolism, which was normalized upon inhibition of ·NO. Together, these findings highlight S-nitrosylation as a convergent regulatory mechanism acting across multiple neuronal domains, ultimately impacting synaptic function and ASD-related phenotypes.

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10. Li D, Huang Y, Liu Y, Sun F, Zhao T, Yin H. Emotion regulation interventions for autistic children and adolescents: A panoramic comparison through systematic review and network meta-analysis. Clin Psychol Rev. 2026; 127: 102764.

Children and adolescents with autism spectrum disorder (ASD) frequently experience emotion regulation (ER) difficulties, yet the comparative effectiveness of available interventions remains unclear. This network meta-analysis (NMA) aimed to rank non-pharmacological ER interventions for autistic children and adolescents and to examine moderators of treatment effects. Ten databases were searched from inception to March 2026. Randomized and controlled trials evaluating ER interventions in autistic youth (mean age < 18 years) were included. A frequentist NMA was conducted using random-effects models. Effect sizes were expressed as standardized mean differences (Hedges'g), with rankings estimated using surface under the cumulative ranking curve (SUCRA) values. Thirty-eight studies (1895 participants) were included; 32 contributed to the NMA. Technology-aided instruction and intervention (TAII) ranked first (SMD = 0.90, SUCRA = 79.4%), followed by drawing therapy (SMD = 0.88, SUCRA = 73.0%) and floortime (SMD = 0.81, SUCRA = 68.4%). Cognitive behavioral therapy showed moderate effects (SMD = 0.52, SUCRA = 43.7%). Subgroup analyses indicated that intervention rankings varied by duration, setting, informant, and age. This NMA establishes the evidence-based hierarchy of ER interventions for autistic youth. TAII and CBT are most effective overall, but effectiveness is context-dependent, supporting a personalized, stepped-care approach.

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11. Li W, He S, Chen J, Ma J, Wu Y, Yang R, Chen M, Li X, Sun Z, Chu C, Wang J. Synergistic-redundant dysfunction in autism spectrum disorder: Heterogeneity and molecular mechanisms. Prog Neuropsychopharmacol Biol Psychiatry. 2026: 111765.

Delineating the systematic functional integration and regional functional robustness in shared and individual-specific subspaces is critical to elucidating the neural basis underlying social and cognitive deficits in autism spectrum disorder (ASD). Here, integrated information decomposition and common orthogonal basis extraction approaches were combined to map individual synergistic and redundant interactions in shared and individual-specific subspaces based on functional connectivity networks derived from 842 individuals with ASD and 933 typically developing controls (TC), examined across age-stratified groups from a cross-sectional perspective. Results revealed that synergistic interactions were progressively greater in older age groups of individuals with ASD, whereas redundant interactions exhibited an inverted-U-shaped pattern of age-related differences, with the most pronounced between-group differences observed in adolescence and comparatively smaller differences in childhood and adulthood. Moreover, alterations in synergistic and redundant interactions within individual-specific subspaces were associated with clinical symptoms in a developmentally stage-specific manner at the individual level. By integrating neurotransmitter and gene expression datasets, spatial association analyses revealed that dysfunction of the dopaminergic, GABAergic, and opioid neurotransmitter systems, genes regulating synaptic signaling and neuronal projection development, and cell types including astrocytes and microglia may underlie the neuropathology of ASD. Collectively, these findings not only uncover abnormal patterns of information interactions in ASD brain networks, but also offer novel insights into ASD heterogeneity, potentially providing crucial clues for the development of early diagnostic and intervention strategies.

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12. Necpál J, Stretavská P, Indelicato E, Růžička E, Škorvánek M, Jeleňová B, Boesch S, Jech R, Zech M. Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype. Mov Disord Clin Pract. 2026.

BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria. CASES: We describe five patients (aged 20-61 years), unexpectedly diagnosed with RTT, exhibiting a movement-disorder-predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as « atypical atypical » RTT. CONCLUSIONS: We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.

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13. Overton GL, Marsà-Sambola F, Martin R, Cavenagh P. « Who I am »: understanding the self-identity process of autism in adults in the UK. Int J Qual Stud Health Well-being. 2026; 21(1): 2682104.

PURPOSE: This study aimed to: (1) explore factors shaping the self-identification process among adults who identify as autistic; (2) examine how self-identification functions in relation to formal diagnosis, including whether it serves as a sufficient endpoint or a transitional stage; and (3) contribute to the UK adaptation of the Autism Spectrum Identity Scale (ASIS) as a complementary identity-focused measure within adult assessment contexts. METHODS: Twelve UK-based adults participated in one of two online focus groups: six self-identified autistic adults without formal diagnosis and six adults who were both self-identified and formally diagnosed. Data were analysed using reflexive thematic analysis. Participants completed a cognitive review of the ASIS to inform adaptation. RESULTS: Self-identification emerged as a dynamic, context-dependent process shaped by lifelong experiences of difference, masking, misrecognition, and structural barriers to diagnosis. For some participants, self-identification constituted a sufficient identity position; for others, it functioned as a catalyst for pursuing formal diagnosis to access validation or support. Identity development and co-occurring mental health conditions were described as interacting in bidirectional ways. CONCLUSIONS: Self-identification does not replace formal diagnosis but interacts with it in relational and context-sensitive ways. Incorporating identity-oriented dialogue into assessment processes may enhance person-centred practice.

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14. Rabinovitch A, Biton Y, Braunstein D, Smolik E, Rabinovitch R. Diverse excess GABA modes drive autism and epilepsy-autism comorbidity. J Neural Transm (Vienna). 2026.

We try to understand the discrepancy in GABA concentration measurements in ASD and the competence, albeit of small abundance, of the comorbidity between autism and epilepsy under the broad assumption that these disorders originate from different E/I ratios. Recent evidence from human induced pluripotent stem cell (hiPSC) studies and from EEG measurements implicates excessive gamma-aminobutyric acid (GABA) signaling as a key etiological factor in autism spectrum disorders (ASD). On the other hand, epilepsy is known to be due to excess glutamate. These dual etiologies agree well with ~ 90% of people with ASD. So, how can there exist a comorbidity of these conditions in one person, even though found in only 10% of patients? We show that « Excess GABA » encompasses distinct neurobiological mechanisms, which may account for the variability in excitatory/inhibitory (E/I) ratio and GABA concentration measurements reported in ASD literature and explain the possibility of the comorbidity. This study proposes a classification of three GABA surplus dysregulation modes: Type A (excess GABAergic neurons/synapses), Type B (reduced glutamatergic neurons/synapses), Type C (elevated extracellular GABA) and one GABA deficient dysregulation mode, Type RC (reduced extracellular GABA), that can inform personalized therapeutic strategies for each type (e.g., Type C might be targeted by GABA transport inhibitors) and reconcile the ASD experimental inconsistencies. Moreover, Types A and/or B combined with Type RC could be the condition enabling the combined ASD-epilepsy disorder and Types A and/or B combined with Type C could be the condition enabling the combined ASD-absence disorder.

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15. Saad K, Al-Atram AA, Elhoufey A, Ragab MF, Elgenidi A, Sherif A, Mahmoud RR. From policy to practice: strategies to overcome barriers in early autism care pathways. Pediatr Res. 2026.

Despite nationwide policies for early autism screening and intervention, many children with ASD still face delays; most are diagnosed after age three and receive considerably fewer therapy hours than recommended by experts. Delays occur for various reasons: parents might miss early signs of ASD, services are often limited to big cities, cultural beliefs slow help-seeking, and there is a lack of trained provider resources. Practical steps like parent education programs, government-funded digital therapies, and improved referral systems can facilitate quicker, more effective care for children, particularly in underserved areas.

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16. Song G, Zhang Q, Zhang L, Ao J, Zhang J, Li F, Chen D. Suspect Screening of Urinary Neurotoxicants in Children with Autistic Spectrum Disorder. Environ Sci Technol. 2026; 60(21): 14886-95.

Environmental exposure to toxic chemicals has long been suspected an important factor contributing to autism spectrum disorder (ASD) in children. Our study developed a suspect screening strategy to broaden the understanding of neurotoxicant exposure in children with ASD (n = 307) and healthy controls (n = 461) and the association between ASD and mixed chemical exposure. Suspect screening of urine samples from the study population identified a total of 94 neurotoxicants designated as confidence level 1, with additional 16 and 34 compounds designated as confidence level 2 and 3, respectively. Among identified level 1 compounds, 48 had a detection frequency >70% in the study population, covering plasticizers, polycyclic aromatic hydrocarbons, insecticides, flame retardants, ultraviolet filters, antimicrobial agents and synthetic antioxidants. The results reveal a complexity of exposure spectrum in ASD children. Conditional logistic regression analyses with level 1 compounds revealed significant associations between ASD and increasing urinary levels of 28 neurotoxicants. Mixed exposure analysis revealed a strong association between combined neurotoxicant exposure and the ASD diagnosis. Among the diversity of neurotoxicants, 1,3-diphenylguanidine (DPG), diphenyl phosphate (DPP) and mono (2-ethyl-5-carboxypentyl) phthalate (mECPP) were identified as the key substances contributing to the exposure-ASD associations. Collectively, our work reported a complex neurotoxicant exposure spectrum in ASD children and associations between neurotoxicant exposure and ASD. The findings highlight the complexity of neurotoxicant exposure in children and the importance of exploring environmental factors of ASD.

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17. Zhang W, Wang C, Zhao X, Pang S, Zhao Z, Zhang G, Chen J. Identification of Potential Biomarkers in Autism: PRELID2, MYO1B, LRCH2, LIFR, and RERG May Serve as Regulators in Synaptic Membrane-Integrating Interneurons. Curr Gene Ther. 2026.

BACKGROUND: Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental condition. Single-cell RNA sequencing (scRNA-seq) has revealed transcriptional disruptions, particularly in interneurons, yet their subtypes and molecular signatures remain poorly understood. METHODS: It was analyzed scRNA-seq data from the human Prefrontal Cortex (PFC). Key cell types were identified using Scissor and ROGUE methods, followed by secondary clustering for subtype annotation. A signature matrix was established using CIBERSORTx to deconvolute the bulk transcriptomes and estimate cell type-specific proportions. Differential subtype proportions between ASD and control samples were compared to identify key cell subtypes. Differentially Expressed Genes (DEGs) from both the key subtype and bulk data were intersected to determine subtypespecific biomarkers, which were further assessed via molecular docking. RESULTS: Interneurons were identified as the most heterogeneous cell population in ASD-affected PFC and were further categorized into five subtypes. A signature matrix was then developed with CIBERSORTx to reflect the proportion of each cell type and subtype. Among the cell subtypes, synaptic membrane-integrating interneurons (SMI-IN) emerged as the key subtypes, which exhibited notable distinctions between the ASD and control samples. Furthermore, five potential biomarkers (PRELID2, MYO1B, LRCH2, LIFR, and RERG) were identified from the SMI-IN subtype. Finally, quercetin and coumestrol were predicted as potential therapeutic compounds targeting these biomarkers. Nevertheless, as all findings were obtained via computational analysis, further cellular and clinical experiments are required to validate these identified biomarkers and candidate compounds. DISCUSSION: This study focused on interneurons and identified SMI-IN as a key cell subtype and its potential biomarkers (PRELID2, MYO1B, LRCH2, LIFR, and RERG). CONCLUSION: The present findings provided new insights for ASD intervention.

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18. Zhou H, Tang W, Zhang Y, Shi W, Ren Y, Dai J, Ghiladi RA, Wang J. Metabolite-Based Biomarkers for Autism Spectrum Disorder: Current Research Progress. Curr Mol Med. 2026.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder. Its global prevalence has risen significantly and continuously in recent years, currently affecting approximately 1 in 36 individuals in the United States, making it a major worldwide public health concern. The etiology of ASD is complex, involving genetic, environmental, and interactive factors. Within this multifactorial framework, dysregulation of metabolic pathways is increasingly recognized as a pivotal driver in ASD pathogenesis. Although previous investigations have primarily focused on metabolite abnormalities within isolated pathways or specific biospecimens (e.g., blood, urine), the collective evidence remains fragmented, lacking a systematic and integrative characterization of metabolic disturbances in ASD. To address this gap, this review aims to systematically synthesize and evaluate metabolic biomarkers associated with ASD. We categorize these biomarkers according to their core pathobiological functions into five interrelated mechanistic domains for detailed discussion: neurotransmitter dysfunction, immune dysregulation, mitochondrial dysfunction, oxidative stress, and gut microbiota dysbiosis. By integrating the current evidence, we not only delineate characteristic metabolite alterations within each domain but also explore the potential cross-talk between these pathways. The identification of candidate biomarkers for early detection and to inform future strategic directions for the development of ASD interventions.

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