Pubmed (TSA) du 08/04/26
1. Anas, Ahmed SS, Madar IH. An occupational therapy lens on microbiota-gut-brain modulation in ASD and ADHD. Front Rehabil Sci;2026;7:1807954.
Research on the microbiota gut brain axis has expanded rapidly, with growing interest in its potential relevance to neurodevelopmental conditions such as autism spectrum disorder and attention-deficit hyperactivity disorder. Systematic reviews increasingly report associations between gut microbial alterations and behavioral features in these populations, yet causal mechanisms remain unconfirmed and translational relevance for rehabilitation remains limited. Much of the existing literature prioritizes microbial composition, inflammatory markers, and neurochemical correlates, with comparatively little attention to everyday functioning, participation, and lived experience. This Perspective argues that microbiota gut brain interactions should be conceptualized within rehabilitation sciences as contextual physiological modulators, referring to internal bodily processes that shape readiness and engagement without determining occupational performance outcomes, and influencing occupational readiness and regulatory capacity rather than acting as etiological drivers of participation restrictions. Drawing on ecological and occupation-centered models of function, including the International Classification of Functioning framework and occupational therapy theories of performance and participation, we propose a reframing that preserves functional orientation while integrating emerging neurophysiological insights. The paper outlines implications for rehabilitation assessment, intervention planning, and interdisciplinary collaboration, and advances programmatic directions for future research that prioritize participation-based outcomes and ecological validity, defined here as the extent to which outcomes reflect real-world participation and everyday functioning rather than laboratory-based or symptom-only change. Repositioning microbiota gut brain research within a participation-focused rehabilitation framework may enhance translational value and support function-oriented, interdisciplinary care for children with autism spectrum disorder and attention-deficit hyperactivity disorder.
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2. Becker H, Mikan SQ, Phillips CS, Haack I. Oncology Nurses’ Perceptions of Providing Care to Adults With Developmental Disabilities in Outpatient Settings. Clin J Oncol Nurs;2026 (Mar 24);30(2):125-132.
BACKGROUND: Patients with cancer and disabilities, particularly developmental disabilities (DDs), have reported difficulties in receiving person-centered care. Little research has explored oncology nurses’ care for patients with DDs. OBJECTIVES: This work explored previous experiences and training that prepare oncology nurses for the care of, how they rate clinic accommodations for, and how they approach care for patients with DDs, including challenges and available supports. METHODS: Nurses from a statewide oncology clinic network completed an anonymous online survey. Items included professional experience, clinic availability and adequacy of accommodations, and vignettes of patients with DDs. FINDINGS: Of the sample, 94% had worked with at least one patient with a DD, but 55% reported no training. Nurses used accommodations such as adapted person-centered communication and modified support systems. Challenges included varying availability and adequacy of resources to support care. Family members and oncology team members with specialized knowledge, such as social workers, provided support.
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3. Brown FJ, Muscat IS, Quinn L, Best L, Cooper P. Validation of the safety, empathy and utility of a large language model conversation agent for parents of autistic and neurodivergent children. Sci Rep;2026 (Apr 8)
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4. Bruni O, Mammarella V, Breda M, Gringras P, Malow BA, Schaer M, Schroder CM, Weiss SK. Sleep as a viable target for early intervention in children with autism spectrum disorder: A narrative review informed by a systematic literature search. Sleep Med Rev;2026 (Apr 4);87:102286.
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by communication and social challenges, and repetitive behaviors. Early integrated developmental and behavioral interventions are recommended, ideally during peak brain development at ages 2-4. Sleep problems are common in autistic children and may appear before diagnosis. This narrative review, informed by a systematic literature search, examines how sleep disturbances affect neurodevelopment in young children with ASD and whether treatment of sleep problems may enhance response to developmental intervention. We conducted a systematic literature search on developmental trajectories AND autism AND/OR intervention AND/OR sleep (Scopus, PubMed, Scholar, Jan 2015-Jan 2026) with focus on early development and intervention (age 2-5 years) in children with ASD. Sleep is essential for brain development, learning, memory, and emotional regulation. Insufficient sleep hinders intellectual growth and adaptive skills, reducing the effectiveness of speech, language, and behavioral interventions. Extending sleep-through behavioral strategies or medications like prolonged-release melatonin-can improve educational outcomes and adaptive behavior in young children with ASD. Addressing sleep issues promptly when ASD is diagnosed or suspected may improve developmental outcomes and enhance intervention effectiveness.
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5. Conti MV, Fiechtner L, Cena H. Beyond the clinic: sensory-adapted food services to support nutrition in autism spectrum disorder. Public Health Nutr;2026 (Apr 8);29(1):e81.
Autism spectrum disorder (ASD) is a population-scale condition with life-course health consequences, yet nutrition support remains inconsistently embedded in routine pathways. Food selectivity is common in ASD and is associated with restricted dietary variety, nutritional imbalance, gastrointestinal morbidity and cardiometabolic vulnerability. Current responses are predominantly clinic-and family-centred and are difficult to scale equitably. This commentary argues that institutional food services (schools, day-care and residential settings) are an underused public health platform to improve inclusion and accountability through sensory-accessible, nutritionally adequate meals. Because these services are commissioned, standardised and audited, sensory accessibility can be operationalised via procurement specifications and quality indicators, enabling benchmarking across sites. Evidence from sensory-informed menu adaptation and implementation work suggests feasibility within routine operations and supports evaluation using system-relevant outcomes (acceptability, nutritional adequacy, waste, feasibility and maintenance). Three policy actions are proposed: embed sensory accessibility in institutional standards, integrate nutrition across sectors and fund scale-up using implementation science.
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6. Darmi T. From technological innovation to institutional adaptation: Reflections on robot-mediated autism interventions in Asian mental health systems. Asian J Psychiatr;2026 (Apr 8);119:104968.
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7. Dubuc A, Renne T, Huguet G, Jacquemont S, Nowakowski T. Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models. Cell Genom;2026 (Apr 8);6(4):101192.
Genetic association studies have identified numerous genes harboring protein-disrupting variants in individuals with profound autism, but identifying convergent points of vulnerability remains challenging. We discuss how brain transcriptomic resources help decode the cellular consequences of these rare gene-disrupting variants. The functional interpretation of genetic associations has largely relied on gene ontologies and protein-interaction networks, with newer approaches leveraging single-cell expression to estimate cellular enrichment. However, the broad expression of many autism-associated genes confounds cell-type-specific effects. We therefore propose a framework quantifying the trade-off between a gene’s cell-type specificity and sensitivity. The limited overlap between genetic associations and transcriptomic alterations in autistic brains prompts a discussion about causality. We examine whether foundation models linking genetic variation to cell-type transcriptomes could clarify the cellular functions affected by autism-associated variants. By combining experimental perturbations, artificial-intelligence-driven inference, and postmortem validation, we propose a unifying mechanistic framework for rare-variant liability in autism.
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8. Feng M, Zhou S, Hou Y, Song X. The impact of physical play-based games on executive functions and social behaviors in children with autism spectrum disorder: a systematic review and meta-analysis. Front Psychiatry;2026;17:1782760.
OBJECTIVE: To conduct a systematic review and meta-analysis examines the impact of physical play-based games on executive functions and social behaviors in children with Autism Spectrum Disorder (ASD),and to compare the differences in effects across intervention types and dosages through subgroup analysis. To our knowledge, this is the first meta-analysis to concurrently evaluate these two domains in this population. METHODS: Six databases (CNKI, Wanfang, PubMed, Cochrane Library, Web of Science, Embase) were searched from inception to December 20, 2025, for randomized controlled trials (RCTs) and non-RCTs on physical play-based Games interventions for children with ASD. Two researchers independently screened studies, extracted data, and assessed using the Cochrane Risk of Bias tool (RoB 2) for randomized controlled trials and the ROBINS-I tool for non-randomized studies. Meta-analysis was performed using STATA 18.0 with a random-effects model. Effect sizes were expressed as standardized mean differences (SMD) with 95% confidence intervals (CI). RESULTS: Twelve studies involving 520 children with ASD were included. Meta-analysis showed that physical play-based games significantly improved social behavior in children with ASD (SMD = 0.68, 95% CI [0.49, 0.88], P < 0.001). However, the improvement in executive function did not reach statistical significance (SMD ≈ 0.31, 95% CI [-0.04, 0.67], P > 0.05). Given the limited number of studies (n=4) and the marginal nature of this finding, this result should be interpreted with caution and requires confirmation in future research. Subgroup analysis indicated that traditional physical play-based games, high-frequency (≥4 sessions/week), and longer-duration (≥60 minutes/session) interventions showed numerically larger effect sizes, but the differences between subgroups were not statistically significant. CONCLUSION: physical play-based games are an effective intervention for improving social behavior in children with ASD, with a moderate and consistent effect. Structured group-based physical play-based games are recommended in practice, with adjustments based on individual child characteristics. Further high-quality research is needed to verify long-term effects and generalization.
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9. Ferrara R, Ricci P, Succu A, Calò A, Calderaro M, Cafiero GE, Iovino L, Ricci L. Sex education in adolescents with ASD: a qualitative study on the role of parents in the Italian context. Front Psychiatry;2026;17:1712462.
BACKGROUND: Sex education for adolescents with autism spectrum disorders (ASD) is often overlooked in traditional educational programs, despite scientific evidence highlighting the need for a specific personalized approach. Family involvement is essential, but Italian literature on the role of caregivers in this area is still limited. MATERIALS AND METHODS: This qualitative study adapted a previously developed qualitative protocol to the Italian context. A focus group was conducted with parents of adolescents with ASD (n=9) and an online questionnaire was administered (n=12). The questions explored previous experiences, perceptions of sex education, content considered a priority, and preferred methods of intervention. RESULTS: The thematic analysis highlighted two macro areas: 1) the role of parents in sex education, ranging from direct supervision to delegation to professionals; 2) the vulnerability of children with ASD, linked to communication difficulties, exposure to inappropriate content and lack of experiential education. Parents expressed a strong need for clear, experiential and culturally sensitive educational tools. CONCLUSIONS: The study highlights the need to develop structured and inclusive sex education programs for adolescents with ASD, actively involving caregivers. A multidimensional and collaborative approach is essential, capable of integrating emotional, physical and regulatory aspects. The results offer a significant contribution to bridging the gap in Italy on this issue and to guiding future educational and policy interventions.
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10. Fırat Y. SHAP-based explainable AI framework for autism severity classification using 3D motor biomarkers. Front Psychiatry;2026;17:1751654.
INTRODUCTION: Early Autism spectrum disorder (ASD) diagnosis is critical for intervention, yet current methods rely on subjective clinical observations. This study develops objective tools to classify ASD severity using 3D motor movement analysis, addressing motor abnormalities as core diagnostic features. METHODS: A Random Forest (RF) model classified three severity levels using 463 motor features from 25 Kinect V2 joint points. Data from 109 children (50 typical, 50 moderate ASD, 9 severe ASD) were validated via 5-fold cross-validation and two held-out test sets (20% each). Shapley Additive Explanations (SHAP) analysis identified critical motor biomarkers. RESULTS: The model achieved 84.6±10.9% accuracy (5-fold cross-validation) and 86.4% accuracy (internal and held-out test sets). For severe ASD, the model achieved 100% classification accuracy on synthetic test data (4/4 cases; 95% CI: 39.8%-100.0%). However, this result represents a methodological proof-of-concept rather than clinical validation, as severe ASD features were synthetically generated from moderate ASD data and the model has not been validated on real Kinect-derived severe ASD motor data. SHAP analysis identified wrist movements, knee trajectories, and elbow-to-foot distances as key motor biomarkers for severity classification. DISCUSSION: This Kinect-based approach with RF and SHAP offers effective, interpretable ASD severity assessment for typical and moderate ASD classes, with promising methodological foundations for severe ASD pending validation on real data.
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11. Key AP, McQueen E, Tokish H, Edwards L, Jones W, Klin A, Klaiman C. Social Visual Engagement in Preterm and Term Children With Autism: Consistent Eye-tracking Patterns Irrespective of Gestational Age. J Dev Behav Pediatr;2026 (Apr 8)
OBJECTIVE: Premature infants born before 37 weeks’ gestation are at increased risk for neurodevelopmental delays and autism spectrum disorder (ASD) compared with the general population. This study aimed to evaluate ASD symptoms independently of the developmental sequelae of preterm birth by objectively assessing social visual engagement using eye-tracking procedures during free viewing of short, dynamic video clips. METHOD: One hundred twenty-eight autistic toddlers born at term and 64 toddlers born preterm (23-36 weeks; 31 diagnosed with autism) between 1 and 3 years of chronological age completed an experimental eye-tracking measure of social visual engagement and gold-standard diagnostic behavioral assessment by expert clinicians. RESULTS: The preterm-born toddlers who were versus were not diagnosed with autism demonstrated significantly lower visual engagement with the eyes and mouth regions of the stimuli and increased fixation on objects. Individual differences in these eye-tracking metrics correlated with clinical measures of autism symptoms and receptive language. Comparisons of autistic toddlers born at term versus preterm identified no group differences in the patterns of social visual engagement. Greater gestational age at birth was associated only with better nonverbal developmental outcomes. CONCLUSION: Early symptoms of autism present similarly in preterm and term-born toddlers when evaluated using objective eye-tracking metrics of social visual engagement. Alterations in social engagement associated with autism seem independent of broader developmental concerns related to prematurity and therefore are a useful aid in the early identification of ASD-specific concerns in preterm toddlers for whom differential diagnosis based on behavior alone may be particularly challenging.
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12. Kratlian CM, Sultaire K, Palleschi C, Rea C, Siegel M. Advancing Equitable Inpatient Psychiatric Access for Children With Autism Spectrum Disorder. Pediatrics;2026 (Apr 8)
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13. Litman A, Pan Z, Sokolova K, Fang J, Marvin T, Sauerwald N, Park CY, Theesfeld CL, Troyanskaya OG. Variant-resolved prediction of context-specific isoform variation with a graph-based attention model. Cell Genom;2026 (Apr 8);6(4):101126.
In eukaryotes, most genes produce multiple transcript isoforms that diversify the transcriptome and proteome, serving as a key mechanism of functional regulation. Genetic variation can disrupt the RNA processing signals that shape isoform structure and abundance, yet modeling these effects at full-length isoform resolution remains challenging due to the complexity of transcript regulation. Here, we introduce Otari, an attention-based graph neural network framework trained on the human genomic sequence and long-read transcriptomes across 30 tissue types and brain regions. Otari predicts tissue-specific differential isoform abundance by integrating sequence-derived epigenetic and post-transcriptional signals, enabling isoform-resolved variant effect interpretation. Applied to large-scale variant datasets, including an autism cohort, Otari uncovers patterns of isoform dysregulation undetectable at the gene level, such as variant-driven perturbations in isoform abundance and microexon usage implicated in autism pathophysiology. We provide Otari as a resource for powering isoform-level analyses across tissues at scale.
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14. Pedapati EV, Vanderklish PW, Sarraf ST, Gargosky S, Nelson M, Richter S, Westerkamp G, Erickson CA. SPG601-associated modulation of resting-state EEG and improvement in executive function in a fragile X syndrome randomized controlled crossover study. Sci Rep;2026 (Apr 7);16(1)
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. Despite extensive research, no targeted treatments exist for the core symptoms of FXS. SPG601 represents the first BK channel activator to enter clinical testing for FXS, designed to restore synaptic function by correcting specific ion channel dysfunction downstream of fragile X messenger ribonucleoprotein protein (FMRP) loss. We conducted a randomized, double-blind, placebo-controlled, 2-period balanced crossover study in 10 adult men with genetically confirmed full-mutation fragile X syndrome. Participants received single doses of SPG601 800 mg and placebo separated by a 1-week washout period. Given the first in FXS nature of the study, the safety and tolerability of SPG601 were evaluated as a primary outcome. Additional endpoints included resting-state EEG power spectral density analysis across predefined frequency bands and auditory-evoked gamma oscillations combined with cognitive assessments using validated instruments and clinical global impressions scales. Among EEG measurements, excessive high frequency gamma band activity has been most extensively validated as a biomarker across species in FXS and has demonstrated correlation with severity of the human FXS phenotype and therefore served as the primary neurophysiologic endpoint. SPG601 was well tolerated with a favorable safety profile. SPG601 demonstrated significant modulation of resting-state EEG power spectral density compared to placebo. Significant treatment effects were observed for gamma power (F = 5.20, p = 0.023), alpha2 power (F = 17.43, p < 0.001), and theta power (F = 7.06, p = 0.008). SPG601 also significantly modulated aperiodic EEG slope (F = 5.28, p = 0.022), indicating alterations in the broadband 1/f component reflecting excitation-inhibition balance. Cognitive improvement was observed in the NIH Toolbox Flanker Inhibitory Control and Attention Test across multiple scoring metrics (p = 0.027). No significant effects were observed on auditory-evoked gamma measures. This study provides the first clinical evidence that SPG601 produces significant neurophysiological changes in FXS, accompanied by a cognitive enhancement in executive function.
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15. Quatieri TF, Talkar T, Williamson JR, Yuditskaya S, Jafari C, Pecukonis M, Townsend P, Sarnie L, Kosmyna N, Protyasha N, Maes P, McDougle CJ, Nowinski L, Mody M. Quantifying vocal subsystems of adults with minimally verbal autism spectrum disorder. Front Hum Neurosci;2026;20:1695265.
The understanding of speech production and its fine-motor underpinnings in individuals with autism spectrum disorder (ASD) has become an area of growing interest in clinical research. Here, we developed objective acoustic-based measures to characterize and contrast the respiratory, laryngeal, and articulatory vocal production subsystems based on data from 27 adults with minimally-verbal autism spectrum disorder (mv-ASD) relative to 27 age-matched neurotypical (NT) peers. The complexity of representative movement dynamics of each subsystem was determined through signal correlation analysis, associated with degrees of freedom derived from correlation structure. As proxies to underlying speech production, we used base features of signal envelope, pitch and formant trajectories associated with each subsystem, respectively, along with their velocities. In addition, we examined cepstral peak prominence and mel-frequency cepstral coefficients, associated with laryngeal and articulatory systems, widely used in assessing voice and speech in neurological and pathological conditions. With speech data from a protocol consisting of diadochokinetic sequencing (DDK), and three different single-word tasks of varying cognitive load (Imitation, Naming, Reading), we studied complexity of motor dynamics at group and individual levels under each task condition. At group level, mv-ASDs showed lower complexity than NT participants for the respiratory and laryngeal subsystems and, except for the DDK task, higher complexity for the articulatory subsystem. At the individual level, there is a range of complexity consistent with mv-ASD heterogeneity. Using Pearson and Spearman correlation measures, we correlated our subsystem characterization with measures of non-verbal IQ, expressive and receptive vocabulary, visual-motor integration, and fine motor dexterity to understand the clinical relevance of these acoustic features, as well as the effect of outliers. When combining mv-ASD and NT groups, articulatory base features were most consistent in correlating with expressive vocabulary across tasks, compared to respiratory and laryngeal features. The Pearson-based association holds within the mv-ASD group alone for the single-word tasks. Continued understanding of speech and language challenges of individuals with mv-ASD reflected in metrics of each of the three speech production subsystems (respiratory, laryngeal, and articulatory) and their relationship with standardized motor, cognitive, and language assessments, will promote design of functionally-tailored personalized and clinically acceptable interventions.
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16. Raja W, Zhang Y, Busby D, El Khoury G, Zgheib A, Hawamdeh HF, Ansaarie I, Suma V, Zeyl T, Soffer DE, Belli E, Choi C. Transcatheter Valve-in-Valve and Iatrogenic ASD Closure for Tricuspid Thrombosis in Heparin-Induced Thrombocytopenia. JACC Case Rep;2026 (Apr 8);31(14):106870.
BACKGROUND: Early bioprosthetic valve thrombosis is a life-threatening complication, and hypercoagulable states such as heparin-induced thrombocytopenia (HIT) can contribute to the formation of thrombi. CASE SUMMARY: A 67-year-old woman with a prior history of HIT and surgical replacement of mitral and tricuspid valves presented with shortness of breath. Transthoracic echocardiography showed an atrial septal defect with right-to-left shunt and thickened tricuspid valve leaflets. Intraoperative transesophageal echocardiography revealed a severe thrombotic bioprosthetic tricuspid valve. She underwent successful transcatheter tricuspid valve-in-valve (TTViV) and atrial septic device closure. DISCUSSION: TTViV is a critical option for patients presenting with early tricuspid valve thrombosis due to HIT. Increased right atrial pressure from tricuspid thrombosis can result in dehiscence of the interatrial sutures, leading to a hemodynamically significant shunt and necessitating its closure. TAKE-HOME MESSAGES: HIT is a prothrombotic state that can lead to early valve thrombosis. TTViV offers an effective treatment option for high-surgical risk patients.
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17. Zechi-Ceide RM, Segarra VCD, Vendramini-Pittoli S, Serigatto HR, Virmond L, da Cunha Palhares HM, Jehee F, Krepischi ACV, Rosenberg C, Grangeiro CHP, Kokitsu-Nakata NM. Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism. Am J Med Genet A;2026 (Apr 8)
The transformation/transcription domain-associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell-cycle regulation. Heterozygous missense variants in the TRRAP gene have been associated with a multiple system condition known as developmental delay with or without dysmorphic facies and autism (DEDDFA; OMIM #618454), hearing loss, and different types of cancer. Strong genotype-phenotype correlation has been observed in DEDDFA, where missense variants located in the clustering between residues 1031-1159 result in more pronounced facial anomalies associated with a variable degree of intellectual disability. Here, we report two Brazilian females with syndromic orofacial cleft, presenting very similar atypical facial phenotypes and multisystem anomalies. Both had a severe phenotype with global developmental delay, ranging from moderate to severe, and one of them had a severe behavior disorder associated with non-verbal autism while the other had inguinal cancer. Next-generation sequencing showed that both displayed heterozygous missense variants in the TRRAP gene, clustering at the 1031-1159 amino acid residues. These cases reinforce the genotype-phenotype correlation of variants in the TRRAP gene with a possible new domain in the cluster 1031-1159.
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18. Zwierko B, Jaroch A, Bracha M, Mruk B, Walecki J. The relationship between functional brain connectivity and neuroinflammatory processes-new insights into the pathomechanisms of ASD. Front Neurosci;2026;20:1787670.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and restricted, repetitive behaviors. Increasing evidence suggests that neuroinflammatory processes are closely associated with the pathophysiology of ASD, linking immune dysregulation with altered brain development and function. This review synthesizes current findings on the relationships between neuroinflammatory mechanisms, biochemical and metabolic alterations, and functional brain connectivity, as revealed by neuroimaging-particularly functional magnetic resonance imaging (fMRI). Across clinical, postmortem, and imaging studies, individuals with ASD show consistent evidence of microglial and astroglial activation, altered cytokine profiles (including IL-1β, IL-6, and TNF-α), and markers of oxidative stress such as glutathione imbalance and lipid peroxidation. These immune and metabolic alterations are associated with changes in synaptic plasticity, neurotransmission, and large-scale neuronal network organization, including altered functional connectivity within the default mode, salience, and executive control networks. Complementary imaging modalities further support links between glial activity, excitatory-inhibitory imbalance, and aberrant connectivity patterns. Emerging evidence also highlights interactions between inflammation, lipid metabolism, neurotransmitter systems (notably serotonin and dopamine), and genetic and epigenetic factors that modulate immune responses in ASD. Integrating inflammatory and metabolic biomarkers with fMRI and spectroscopic measures provides a promising framework for characterizing biologically informed ASD subtypes and advancing precision diagnostic and therapeutic strategies. Overall, current evidence supports a multilevel neuroimmune framework in which chronic inflammation and oxidative stress are associated with atypical functional brain connectivity in ASD. Future longitudinal and multimodal studies are required to validate candidate biomarkers, clarify mechanistic pathways, and evaluate interventions targeting neuroinflammatory processes.