Pubmed (TSA) du 06/06/26
1. Antolí A, Vacas J, Sánchez-Raya A, Pérez-Dueñas C, Cañas JJ, Cuadrado F. Preserved and non-preserved social attentional processes in Autism and developmental language disorder at early ages. Sci Rep;2026 (Jun 5)
Differentiating between Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD) in early childhood, when language and behavioral repertoires are not yet fully developed, remains a major challenge in clinical practice. This study aimed to examine which aspects of social attention are preserved or altered in each condition, using eye-tracking. We analyzed how children explored faces and objects in three groups: children with ASD, children with DLD, and non-clinical children. A paired-preference task was used in which children viewed images with one face and one object. Variables included stimulus type (face vs. object), object interest (related vs. unrelated to autistic circumscribed interests), and facial emotional expression (neutral, happy, angry). The sample included 69 children aged 32 to 74 months (23 per group). Eye-tracking measures captured how quickly children oriented to each stimulus (time to first fixation; prioritization index), how long they looked at it (total fixation duration; preference index), and how sustained their visual engagement was (visit duration; duration index). The ASD group showed preserved orientation toward social stimuli, with no differences relative to the non-clinical group. The ASD and DLD groups differed in the duration index, indicating stronger visual engagement with objects in the ASD group. Both prioritization and preference indices differentiated between clinical and non-clinical groups. These findings characterize how children in each group attend to social and non-social information, highlighting distinct patterns that may inform early differential diagnosis and clinical assessment.
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2. Bhagyalatha U, Sahoo BK, Muppidi S. Hybrid optimized focal high-order attention network with descriptor computations for autism spectrum disorder detection in federated learning. Psychiatry Res Neuroimaging;2026 (May 15);362:112247.
Autism spectrum disorder is a neurodevelopmental condition that affects the social interaction, and communication ability of persons. Accurate diagnosis can significantly improve quality of life. However, current detection methods often perform sub optimally due to class imbalance, heterogeneous data, and privacy concerns. For solving such issues, a Federated Learning (FL)-based framework is proposed, integrating a Groupers and Moray Orangutan Optimization Algorithm with a Focal High-order Attention Network (GMOA_Focal-HANet). The autism detection is done in a local model, where autism brain image and autism data are fed to a pre-preparation process. The GMOA performs the functional connectivity-based pivotal region extraction, and descriptor computation is done by Regional Gradient Pattern (RGP). Moreover, the preprepared input data is subjected to attribute screening, where the Chi-Square Test-enabled feature selection is employed. The Focal-HANet detects autism using the outcome of descriptor computation and attribute screening. The GMOA trains the Focal-HANet, and local update and aggregation is done by average method. Experimental results demonstrate that the proposed framework achieves a classification accuracy of 96.83%, with sensitivity and specificity of 95.92% and 96.82%, respectively. These results confirm the effectiveness and robustness of the proposed approach for reliable Autism spectrum disorder detection in a privacy-preserving FL environment.
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3. Cao Y, Pang L, Meng W, Tao Y, Yu L, Liang J, Zhou Y, Lin H, Zhou Y, Zhi Q. Service learning in dental education: enhancing student competence through an oral health training programme for children with autism spectrum disorder. BMC Med Educ;2026 (Jun 6)
BACKGROUND: Service learning integrates community service with academic instruction, fostering reflective practice and enhancing professional competencies. In dental education, traditional curricula often emphasize technical skills over humanistic care, particularly for vulnerable populations such as children with autism spectrum disorder (ASD). This study designed and evaluated a structured service learning programme to explore its association with changes in dental students’ oral health knowledge, self-efficacy, and professional attitudes toward serving children, especially those with ASD. METHODS: In 2025, 102 fourth-year dental students participated in a single-group pretest-posttest study of a service learning programme focused on oral health for children with ASD. The programme included six modules: theoretical training, field investigation, data analysis, report writing, the development of educational materials, and health education delivery. Pre- and post-programme assessments measured changes in knowledge, self-efficacy, and professional attitudes via a 9-item knowledge test, a 6-item 5-point Likert scale, and a 6-item self-rated scale (0-100), respectively. Course feedback was collected via four dichotomous items. Statistical analyses included generalized estimating equations for knowledge test scores, Wilcoxon signed-rank tests for Attitudes and willingness, and paired t-tests for self-efficacy scores; a two-tailed p < 0.05 was considered statistically significant. RESULTS: Significant improvements were observed in students' knowledge (correct understanding of Community periodontal index (CPI) probing increased from 65.7% to 92.9% (rate difference = 27.3%, 95%CI: 16.5 to 38.1, p < 0.001), self-efficacy (understanding of ASD oral hygiene rose from 32.27 ± 8.37 to 43.89 ± 2.73 (mean difference = 43.06, 95%CI: 37.01 to 49.12, p < 0.001), and professional empathy (93.5% of students reported enhanced empathy and responsibility). More than 87% of the students endorsed the expansion of this educational model. CONCLUSION: Findings from this study suggest that service learning can be associated with the integration of knowledge, skills, and humanistic values in dental education. This model may help prepare students to address the oral health needs of underserved populations and may support the role transformation from learner to health advocate. Pending further validation with more rigorous designs, it offers a potential framework for training in special care dentistry.
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4. Chen X, Liu Y, Song X, Chen J, Zhu H, Sun Q, Li Z, Zhao S, Zhang C, Wu L. Hippocampal APOE/S1P axis regulates synaptic and behavioral deficits in a mouse model of autism. Neurobiol Dis;2026 (Jun 4):107470.
Autism spectrum disorder (ASD) is a neurodevelopmental condition of unknown mechanism. Synaptic pathology is a core feature, but the key molecular regulators are unclear. The brain’s major apolipoprotein APOE transports lipids including S1P to regulate neuronal function; however, the role of the APOE/S1P axis in ASD is unknown. Here, we found that serum APOE and S1P were elevated in children with ASD. In the BTBR mouse hippocampus, both were also elevated, with abnormal APOE aggregation on neurons. To test causality, we developed a brain-targeted nanomicelle (MAN@SKI II) that inhibits hippocampal S1P. MAN@SKI II lowered APOE/S1P levels, reactivated the PI3K/Akt/mTOR pathway, repaired synaptic ultrastructure, and improved social and cognitive behaviors in BTBR mice. Together, these findings indicate that the APOE/S1P axis is associated with hippocampal synaptic pathology and behavioral deficits in ASD, suggesting a potential mechanistic target for therapeutic intervention.
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5. Davoudi-Monfared E, Shahabi F, Fattahi AS, Rahimi M, Akbari Oryani M, Jabbari Nooghabi A. Idiopathic Granulomatous Mastitis in a Nulliparous Woman With Autism Spectrum Disorder Receiving Long-Term Psychotropic Treatment and Normal Serum Prolactin Level: A Case Report. Clin Case Rep;2026 (Jun);14(6):e72856.
Idiopathic granulomatous mastitis (IGM) is a rare inflammatory breast disorder, primarily attributed to immunological dysregulation, hormonal imbalances, or fertility-related conditions. We report a 26-year-old female with autism spectrum disorder (ASD) under long-term multidrug psychotropic treatment who developed IGM. She had been treated with methylphenidate for at least 23 years and aripiprazole, clozapine, citalopram, valproate sodium, and propranolol for at least 10 years. The patient was sexually inactive, had no fertility-related risk factors, and no prior use of contraceptive pills. She had no history of breast-related disorders. She presented with induration and erythema of the right breast. Ultrasound examination showed multiple organized hypoechoic collections and recommended core needle biopsy (BIRADS 4a). Pathologic evaluation revealed granulomatous mastitis, and no neoplastic lesion was identified. Her prolactin level was 17.8 ng/mL (reference range: 4.7-23.3 ng/mL). She was prescribed oral antibiotics, corticosteroids, and anti-inflammatory drugs. Due to the patient’s improvement during follow-up visits, the oral corticosteroid was tapered and antibiotic therapy was discontinued. On the last visit, 5 months and 24 days after the first visit, the breast presentation exhibited complete improvement, and corticosteroid therapy was discontinued. Although a clear relationship cannot be determined from a single case, prolonged exposure to psychotropic medications may contribute to immune dysregulation and oxidative stress, potentially associated with the development of IGM.
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6. Elkhodiry AA, Bokhari SA, Alagha N, Mohammed D, Kakkar R, Abdalla A, Copiaco A, Himeur Y, Ritz C, Beheshti A, Mansoor W, Albanna A, Eapen V. Home-based eye tracking for early autism screening: a scoping review of approaches, evidence, and implementation challenges. BMC Psychiatry;2026 (Jun 6)
BACKGROUND: Early identification of autism spectrum disorder (ASD) is essential for improving developmental outcomes but remains challenging due to diagnostic delays, subjectivity, and resource limitations. Eye-tracking offers objective indices of social attention and could improve access to early screening when deployed on consumer devices at home. This scoping review synthesizes evidence on home-deployable eye-tracking as digital biomarkers for early ASD screening, associated machine learning methods, and feasibility of real-world implementation. METHODS: Following the Arksey and O’Malley framework and Joanna Briggs Institute (JBI) methodology, reported per PRISMA Extension for Scoping Reviews (PRISMA-ScR), we searched PubMed and Scopus (2015-2025) for English-language human studies using terms for autism, eye-tracking, and home-based assessment. Using a Population, Concept, Context (PCC) framework (Population: infants/ children; Concept: eye-tracking as digital biomarker; Context: home/ clinical settings), two reviewers screened each record and charted data on participant characteristics, stimuli, devices, analytic methods, diagnostic performance, and implementation indicators. Extracted data, including diagnostic performance metrics (PPV, NPV, confidence intervals), study design classifications, validation methods, and biomarker readiness ratings, are provided in full in Supplementary Tables S2-S6. The protocol was preregistered on the Open Science Framework (OSF Registries osf.io/mdz2e/; https://doi.org/10.17605/OSF.IO/MDZ2E). Searches were last executed on 1 August 2025. A process-based estimation approach was used to quantify the EOL carbon footprint of two timber floor systems-Adhesive & Screw and Sharp Plate & Screw, following ISO 14040/44 standards. Four realistic EOL pathways (landfilling, downcycling, component reuse, and full assembly reuse) were assessed under three recovery-rate scenarios (90%, 60%, and 30%) to capture both ideal deconstruction and conventional demolition conditions. EOL impacts, biogenic carbon flows, and Stage D credits (potential environmental benefits beyond building life) were integrated to determine the EOL climate outcomes. RESULTS: Across 90 studies, reported discrimination typically ranged from moderate to high. Sample sizes varied from small pilots to large datasets (n = 30-1,000+), with ages from 5 months to 18 years. Studies were categorized by system type: hardware-based, wearable, webcam-based, and home-deployed. By study purpose, studies ranged from prospective screening evaluations and internally validated case-control classification studies to exploratory group-difference analyses and feasibility evaluations; the majority fall into the latter two categories. Common tasks included faces/social scenes, biological motion, and joint-attention cues; frequently reported metrics included fixation proportion, dwell time, saccade dynamics, and interest-area contrasts (eyes/face vs. objects). Supervised learning (e.g. SVM, random forests) and deep learning pipelines were used, though external validation and calibration-robustness were inconsistently reported. Practical barriers included ambient-light variability, viewing distance, caregiver facilitation, device heterogeneity, and data privacy/governance. CONCLUSION: This review mapped 90 studies across four eye-tracking platform stages to assess translational readiness for home-based ASD screening. Gaze-based biomarkers carry robust discriminative signal, but the evidence derives almost entirely from laboratory-based, case-control studies. Only three studies collected data in home-deployed settings, none with externally validated accuracy. Priorities include prospective multisite home-based trials with prespecified endpoints, standardised stimulus protocols, evaluation of model robustness to distribution shift, and navigation of jurisdiction-specific regulatory pathways. Limitations include English-only sourcing, two databases, the 2015-2025 window, and lack of critical appraisal. CLINICAL TRIAL NUMBER: Not Applicable.
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7. Fortini PS, Toibaro JJ, Caraballo RH. Long-term follow-up of children with autism spectrum disorder and severe treatment-resistant behavioral symptoms treated with purified cannabidiol. Pharmacol Biochem Behav;2026 (Jun 4);266:174220.
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition often associated with severe behavioral disturbances and limited pharmacological treatment options. Cannabidiol (CBD) has emerged as a potential therapeutic option; however, evidence on its long-term effectiveness and safety in children with ASD is scarce. OBJECTIVE: To evaluate the long-term effectiveness and safety of purified CBD as add-on therapy in children with severe ASD and treatment-resistant behavioral symptoms. MATERIAL AND METHODS: We conducted a prospective observational before-and-after study in children and adolescents (3-18 years) with ASD severity levels 2 or 3 and intellectual disability treated with add-on CBD. The primary outcome was change in caregiver-identified symptoms, while secondary outcomes included standardized behavioral scales (Repetitive Behavior Scale-Revised [RBS-R], Vineland Adaptive Behavior Scales-II maladaptive behavior domain, Aberrant Behavior Checklist [ABC], Pediatric Sleep Clinical Global Impressions-Severity, Autism Family Experience Questionnaire, and Parental Stress Scale). Safety and tolerability were assessed through caregiver-reported adverse events. RESULTS: Twenty children were enrolled, of whom 13 completed the long-term follow-up (mean 27.6 ± 1.3 months). Of the caregiver-identified symptoms, improvements observed during the initial short-term study were maintained or further improved during follow-up. Standardized scales showed modest but sustained improvements, particularly in irritability, social withdrawal, and hyperactivity. Mild, transient adverse events, mainly irritability or decreased appetite, did not recur during long-term followup, and concomitant medications were reduced in 40% of patients. CONCLUSION: Long-term treatment with purified CBD in children with severe ASD was well tolerated and associated with sustained improvement in caregiver-reported outcomes and standardized scales.
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8. Kim J, Hwang SH, Matson CW, Brooks BW, Shin HM. Developmental lithium exposure and neurodevelopment: Epidemiological evidence, biological pathways, and implications for autism. J Hazard Mater;2026 (Jun 3);514:142590.
Autism is a heterogeneous neurodevelopmental condition arising from complex interactions between genetic susceptibility and environmental factors. Lithium, a naturally occurring element used therapeutically for bipolar disorder and present in food and drinking water, warrants careful evaluation because it readily crosses the placenta and modulates biological pathways critical for brain development. We conducted a structured literature review of PubMed, Embase, and Web of Science through February 20, 2026, and identified 72 human, animal, and in vitro studies examining lithium exposure in relation to autism or neurodevelopmental outcomes. Epidemiologic evidence remains limited, with few studies directly assessing prenatal exposure and insufficient evidence to establish environmental lithium exposure as a neurodevelopmental risk factor. Most human clinical studies reflect therapeutic contexts and demonstrate the mood-stabilizing effects of lithium, whereas human biomarker and experimental studies provide evidence for modulation of glycogen synthase kinase-3β (GSK3β) signaling and thyroid function. Experimental studies indicate that lithium can normalize disease-associated phenotypes in autism-relevant models, yet it also induces behavioral and neurological alterations in non-mutant control models, particularly following high-dose or prenatal exposure. Across evidence streams, convergent findings implicate phosphatidylinositol-calcium signaling, GSK3β-dependent pathways, glutamatergic synapse function, and thyroid hormone regulation, supporting the biological plausibility of lithium-related neurodevelopmental effects. Overall, lithium-associated neurodevelopmental effects appear dose-, context-, and timing-dependent. Knowledge gaps remain regarding environmentally relevant prenatal exposures and long-term neurodevelopmental outcomes, underscoring the need for rigorous epidemiologic and mechanistic studies incorporating refined exposure assessment, developmental timing, and genetic susceptibility.
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9. Martinez-Ramirez M, Gustemps LG, Ramos IS, Bonnín CDM, Martínez-Aran A, Vieta E, Magan-Maganto M, Ramos-Quiroga JA, Marin JL. Functioning assessment short test for autism (FAST-A): a tool to evaluate adaptive functioning in autistic adults. Eur Neuropsychopharmacol;2026 (Jun 5);112:112887.
Adaptive functioning has been shown to be an important determinant of outcome in autistic individuals, determining the level of independence. This must be one of the main therapeutic objectives when working with autistic individuals and for this it is needed valid and easy tools to evaluate both, functioning of individuals and causes of failure to achieve it. A sample of 319 autistic adults from the population monitored within the Comprehensive Care Program for autistic individuals (PAITEA) of the Vall d’Hebron Hospital Psychiatry Service was included. An EFA was used to explore the factorial structure of the FAST-A. Posteriorly, an CFA was performed. Independent samples t-tests were performed comparing men (n = 203) and women (n = 116) and patients aged 18-25 years (n = 155) with those aged 25 years and older (n = 164) on the FAST-A scores. An EFA with a ‘Maximum likelihood’ extraction method was used in combination with an ‘oblimin’ rotation to explore the factorial structure of the FAST-A. We retained 4 factors due to the convergence of the analysis of the inflexion point of the scree plot and Kaiser’s criterion (eigenvalues greater than 1,00), explaining almost 61% of the total variance. 5 items were eliminated in an iterative process used to improve the structure, reliability, and validity of the scale. This new test with 4 factors and 19 items will be called FAST-A from now on. An CFA was performed using the diagonally weighted least squares method. The analysis of the internal structure of the FAST-A demonstrated a satisfactory model fit to the EFA four-factor structure. The model yielded favourable fit indices, including RMSEA value of 0.060 (95% IC [0.051-0.069]), SRMR value of 0.071, a CFI value of 0.999 and a TLI value of 0.999. In the t-student test, men had significantly higher scores than women in the autonomy factor (M_men = 5.27; M_women = 4.15), t(317) = 3.16, p = .002 and in the social participation factor (M_men = 9.42; M_women = 8.15), t(317) = 2.72, p = .007. On the other hand, women had significantly higher scores than men in the Cognitive factor (M_women = 4.78; M_men = 4.05), t(317) = -2.09, p = .038. But the 18-25 year group had significantly higher scores than the >25 year group (M = 5.90 vs. 3.88), t(317) = 6.11, p < .001. in the autonomy factor, meaning that young adult patients present greater impairment than older adults in the autonomy factor. The FAST-A appears to be a valid instrument for the rapid assessment of adaptive functioning in the autistic adult population.
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10. Melikishvili M, Rea M, Capan C, Lee H, Chandler DP, Fondufe-Mittendorf Y. DNA methylation, nucleic acid structure, and Rett mutations tune MeCP2 binding affinity and cooperativity. J Biol Chem;2026 (Jun 4):113227.
Methyl-CpG-binding protein 2 (MeCP2) is a chromatin-associated factor whose dysfunction causes Rett syndrome. Although MeCP2 preferentially binds methylated DNA, its affinity for methylated substrates is only ∼threefold higher than for unmethylated DNA, raising the question of how MeCP2 selectively recognizes its targets. Here, we quantify binding of full-length wild-type MeCP2 and Rett-associated variants (R106W, T158M, R270X, and R306C) to nucleic acid substrates that vary in length, secondary structure, methylation pattern, CpG symmetry, and strand composition. Wild-type and mutant MeCP2 preferentially bind double-stranded DNA but also interact with single- and double-stranded DNA and RNA with nanomolar affinity. Binding to single-stranded targets is largely driven by the formation of local duplex structures, whereas 5-methylcytosine provides stabilizing contacts and enhances MeCP2 affinity when canonical duplex geometry is absent. Rett-associated mutations segregate into mechanistic classes: mutations within the methyl-binding domain (R106W and T158M) weaken methylation-dependent recognition and reduce binding affinity, whereas C-terminal mutations (R270X and R306C) preserve high-affinity binding but diminish cooperative interactions consistent with impaired higher-order bridging. These findings identify MeCP2 as a methyl-sensitive nucleic acid binder whose interactions are shaped by local nucleic acid topology and modulated by cytosine methylation, providing a mechanistic framework for understanding how Rett-associated mutations disrupt chromatin regulation.
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11. Pang Y, Hao A, Han H, Yuan H, Chen C, Xue M, Wang L, Dai C, Wu B, Li T, Tian X, Dong Z. Neural SMG7 deficiency induces autism-like behaviours via PKD1 upregulation. Brain;2026 (Jun 6)
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits, restricted interests, and repetitive behaviors. Emerging evidence links several autism susceptibility genes to the nonsense-mediated decay (NMD) pathway, which maintains the homeostasis of gene transcription and protein translation in the nervous system. However, the role of Suppressor with morphogenetic effect on genitalia 7 (Smg7), an essential NMD factor, in brain function and ASD remains largely unknown. Here, we generated an Emx1-Cre-mediated conditional Smg7 knockout (Smg7cko) mouse model to investigate its neurological consequences. We found that both male and female Smg7cko mice exhibited autism-like behaviors, including impaired social interaction and communication, repetitive behaviors, anxiety-like traits, and learning and memory deficits. These phenotypes were accompanied by neuronal hyperexcitability and increased dendritic spine density in layer II/III pyramidal neurons of the hippocampus and the medial prefrontal cortex (mPFC). Notably, Smg7 deletion led to pronounced upregulation of Protein Kinase D1 (PKD1) transcripts, an NMD target, in these brain regions. Strikingly, adeno-associated virus (AAV)-mediated PKD1 knockdown (AAVsh-PKD1) in the hippocampus and mPFC significantly rescued social deficits in Smg7-deficient mice. Together, these findings identify Smg7 as a key regulator of neuronal function and behavior, and reveal PKD1 upregulation as a pathogenic mechanism underlying ASD-like phenotypes, providing new insight into NMD deficiency in ASD pathophysiology and a potential therapeutic target.
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12. Sahin B. The missing outcome measure: Theory of mind as a target and primary outcome in avatar-based interventions for autism spectrum disorder. Asian J Psychiatr;2026 (Jun 4);122:105039.