Pubmed (TSA) du 28/05/26
1. Aguado-Gracia J, Borràs R, Escalona RC. Differential Associations of Adversity and Victimisation With Psychotic Experiences in Autistic Adolescents. J Autism Dev Disord. 2026.
PURPOSE: This study examined the unexplored associations between childhood adversity, maltreatment, and psychotic experiences in autistic adolescents, focusing on how trauma subtypes relate to positive and negative dimensions. METHODS: Participants were 73 autistic adolescents (12-18 years, IQ > 85) with a confirmed ASD diagnosis (DSM-5; ADOS-2/ADI-R), recruited from the Child and Adolescent Mental Health Service (CAMHS) at Hospital Clínic de Barcelona. Linear regression models assessed which subtypes of adversity (ACEs) and maltreatment (JVQ), controlling for clinical and sociodemographic covariates, were associated with positive (PPE) and negative (NPE) psychotic experiences as measured by the CAPE-42. Final models were selected via forward stepwise procedures and internally validated using bootstrapped cross-validation. RESULTS: For PPE, the adversity model (Adj. R² = 0.498) identified sexual abuse, emotional neglect, family origin, and psychiatric admissions as significant correlates. The maltreatment model (Adj. R² = 0.398) included the JVQ Sexual Victimization and Peer and Sibling Victimization subscales, family origin, and psychiatric admissions. For NPE, the adversity model (Adj. R² = 0.399) identified internalizing symptoms, physical abuse, female sex, and family origin, while the maltreatment model (Adj. R² = 0.553) identified family origin, the JVQ Child Maltreatment subscale, internalizing symptoms, female sex, and the JVQ Peer and Sibling Victimization subscale. CONCLUSION: Childhood trauma showed distinct patterns of association with psychotic dimension profiles. Sexual abuse, emotional neglect, and peer victimisation were linked to increased PPE, whereas child maltreatment and peer victimisation were more strongly associated with NPE. These findings highlight the importance of integrating systematic trauma assessment into autism care.
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2. Ates K. Clinical and Genetic Insights Into Aymé-Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism. Dev Neurobiol. 2026; 86(3): e70044.
Aymé-Gripp syndrome is an ultra-rare autosomal dominant multisystem disorder caused by pathogenic variants in the MAF gene, typically affecting the N-terminal transactivation domain. It is characterized by craniofacial dysmorphism, early-onset cataracts, sensorineural hearing loss, developmental delay or intellectual disability, and variable neurological or skeletal anomalies. Here, we report two unrelated Turkish patients harboring heterozygous MAF variants within the glycogen synthase kinase 3 recognition motif, evaluated using clinical, neuroimaging, and molecular approaches. Targeted next-generation sequencing (NGS) and parental segregation analyses by NGS and Sanger sequencing were performed, and a literature review of cases published between January 2015 and April 2026 was conducted. Both patients presented with craniofacial and neurodevelopmental features. However, one patient showed no clinically detectable ocular abnormalities or hearing impairment at the time of evaluation. The detected variant in this patient was inherited from his asymptomatic father with low-level mosaicism (16% variant allele frequency in blood and 22% in buccal mucosa), representing the first reported case suggestive of paternal germline mosaicism in Aymé-Gripp syndrome. Literature review (n = 38) revealed consistent findings of sensorineural hearing loss (94.5%), cataracts (78.3%), developmental delay/intellectual disability (100%), epilepsy (68.5%), skeletal anomalies (72.7%), and cardiac involvement (55.1%). Additional features, including non-cataract ocular abnormalities, renal involvement, dermatologic findings, and hematological manifestations, have also been reported. All variants clustered within residues 54-69 of the transactivation domain. These findings provide clinically and molecularly relevant insights into Aymé-Gripp syndrome and highlight the importance of molecular diagnosis and the detection of parental mosaicism for accurate recurrence risk assessment and genetic counseling.
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3. Balasubramani J. Optimized quadrangle attention consolidated convolutional multi-scale vision transformer based autism detection. Psychiatry Res Neuroimaging. 2026; 361: 112251.
Autism is a complex neurological condition characterized by repetitive behaviours, varied speech and difficulties in social interaction. Identifying autism spectrum using traditional methods alone is challenging due to its complexity and variability. In order to facilitate earlier and more accurate detection, Artificial intelligence (AI) methods have been developed to improve traditional diagnostic techniques. Standard diagnostic methods often struggle with reliability due to the variability and complexity of autistic individuals. To overcome these challenges, this study proposes a novel Deep Learning (DL) based framework for efficient and accurate autism spectrum detection. The input data are first pre-processed using an Adaptive Median Gaussian Filter (AMGF) to remove noise while preserving essential image features. Then, Generative Adversarial Networks (GANs) are employed for data augmentation, effectively overcoming dataset imbalance and security. Feature extraction is carried out using the Deep Multi-scale and multi-level enclosed attentional DarkNet (DMM-AND) model, which captures both fine-grained and high-level patterns. Finally, autism spectrum detection is performed using the Optimized Quadrangle Attention consolidated Convolutional Multi-scale Vision Transformer (OQA-CMVT) model. Here, the Random Spiral exploit chimp optimization algorithm (RS-COA) is used for the hyperparameter tuning process. The proposed technique achieves 97.96% accuracy for the autistic children’s facial dataset and 98.04% for the Autism_Image_Data dataset.
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4. Bean A, Kovacs P, Sonntag AM. Emotion word production on the devices of nonspeaking school-aged autistic children who use augmentative and alternative communication. Int J Speech Lang Pathol. 2026: 1-9.
PURPOSE: This study examined emotion word production on the augmentative and alternative communication devices of nonspeaking school-age autistic children classified as emerging communicators. METHOD: Emotion word vocabulary data were collected by enabling data logging on the augmentative and alternative communication devices of 11 autistic school-age children between 8-10 years of age over an 18-week period. We calculated the type and frequency of emotion words produced on participant’s devices and compared the result to a previous research study investigating emotion word production in typically-developing children between 15 and 47 months of age and their mothers. RESULT: Data logging revealed that eight different emotion words (angry, excited, frustrated, happy, mad, proud, sad, and scared) were produced on participants’ augmentative and alternative communication devices over the course of 126 days. The majority of these eight words emerge relatively early in development, and five of the words overlapped with the eight emotion words produced most frequently by the typically-developing children and mothers in previous research. CONCLUSION: Overall, emotion words were produced in low frequencies on the participants’ devices. Limited production of emotion words on children’s augmentative and alternative communication devices (whether it be modelling by an adult or child production) will most likely slow acquisition of these complex words.
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5. Caruso A, Micai M, Gila L, Sabbioni M, Galati G, Fulceri F, Scattoni ML. Mapping, displaying, and facilitating access to autism services: an Italian eHealth solution. Int J Med Inform. 2026; 217: 106490.
BACKGROUND: Autism Spectrum Disorder (ASD) presents a significant global challenge, necessitating robust healthcare services and strategic policy planning. This study describes the development and implementation of a national eHealth solution to systematically map ASD healthcare centers across Italy. METHODS: The Italian National Institute of Health, under the mandate of the Ministry of Health, established a multidisciplinary working group to lead a co-design process for developing and implementing an eHealth platform that maps healthcare services for individuals with ASD across all Italian Regions and Autonomous Provinces. RESULTS: The dynamic eHealth platform was developed and refined through a two‑step evaluation process to ensure technical reliability, standardized data collection, and alignment with operational needs. It is publicly accessible through the National Observatory for Autism website and systematically collects geographical and operational characteristics of healthcare services, the composition of multidisciplinary workforce across services, access procedures and public availability of information. As of 2024-2025, the platform has mapped 1,228 services for individuals with ASD and/or intellectual disability, covering both child and adult populations. More than 30,000 professionals are involved in delivering diagnostic and rehabilitative interventions. Analysis highlights regional disparities in service distribution and workforce composition. CONCLUSION: The national eHealth platform provides a standardized, accessible solution that enhances transparency and coordination of ASD services across Italy. By consolidating verified service data, it supports navigation for individuals with ASD and their family and enables policymakers to monitor disparities and inform evidence‑based planning.
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6. Cervantes PE, Becker C, Horwitz SM, Lai E, Cohen Y, Gibbons RD, Palinkas LA. Content Validity of the K-CAT(®) Assessing Mental Health Challenges in Autism: A Mixed Methods Analysis of Perspectives from Autistic Youth, Caregivers, and Clinicians. J Autism Dev Disord. 2026.
PURPOSE: Mental health (MH) challenges in autistic youth are often under-identified due in part to limited availability of assessment tools developed or adapted for the autism population. The K-CAT(®), a battery of computerized adaptive tests assessing up to nine MH domains in the general population, shows promise in addressing this need. Because these general instruments may not be valid or acceptable for use with autistic individuals, we evaluated the K-CAT(®)’s content validity for autistic youth with input from the autism community. METHODS: Feedback was obtained from autistic youth, caregivers, and clinicians on the K-CAT(®) through a mixed methods research design. One-hundred-fifty-one youth and caregivers provided feedback on ease of administration, relevance, comprehensiveness, and comprehensibility of the K-CAT(®) overall. Thirty youth/caregiver dyads and 15 clinicians then participated in the mixed methods study of the K-CAT(®) at the module- and item-level. RESULTS: While participants had positive impressions of the K-CAT(®) overall, weaknesses were identified by most participants and several recommendations for change were provided. The modules identified as most challenging were the Mania, Oppositional Defiant Disorder, and Conduct Disorder (CD) modules of the Child Version and the CD, Mania, and Anxiety modules of the Parent Version. The most commonly reported concerns were comprehension/clarity issues and symptom overlap between MH conditions and autism. CONCLUSIONS: Modifications to the K-CAT(®) appear both necessary and feasible. Findings will inform the development of a K-CAT(®) Autism Version, which has the potential to transform the detection and monitoring of MH symptoms in autistic youth.
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7. D’Incal CP, Cappuyns E, Paldi F, van der Lei MB, Annear DJ, Alastruey CM, Sokolova D, Elinck E, De Man K, Konings A, Huyghebaert J, Thys S, Pintelon I, Verschuuren M, Calus E, Van Dam D, De Deyn PP, Nguyen S, Yalcin B, Horii T, Hatada I, Mateiu L, Cavalli G, Pasciuto E, Berghe WV, Kooy RF. An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice. EBioMedicine. 2026; 128: 106309.
BACKGROUND: Heterozygous de novo variants in the transcription factor Activity-Dependent Neuroprotective Protein (ADNP) cause a severe neurodevelopmental disorder, termed Helsmoortel-Van der Aa syndrome (HVDAS), characterised by autism, intellectual disability, and multisystem involvement. The ADNP gene is essential for embryonic development and interacts with components of several chromatin remodelling complexes. However, the precise pathophysiological mechanisms underlying the disorder remain incompletely understood. METHODS: We used CRISPR/Cas9 genome editing to create a 14-base pair deletion c.2463_2476del (p.Leu822Hisfs∗6) in the murine Adnp gene to establish a disease-relevant mouse model. Only male mice were used in this study to reduce variability associated with sex-specific differences. Molecular, transcriptomic (RNA-seq), chromatin accessibility (ATAC-seq), proteomic (mass spectrometry), and 3D genome architecture (Hi-C) analyses were performed in cortical brain tissue. Neuroanatomical and behavioural phenotyping, including Morris water maze, elevated plus maze, marble burying, social interaction testing, and the Live Mouse Tracker were conducted to assess cognitive and autism-related phenotypes. FINDINGS: Heterozygous mice are viable and fertile. Introduction of the 14-base pair deletion reduced cellular Adnp levels in the brain (p = 0.0008) and decreased its chromatin association (p = 0.001), parallelled by a genome-wide increase in chromatin accessibility. Morphological analyses revealed mild neuroanatomical alterations in regions associated with cognition, memory, learning, and motor function (p < 0.05). Behavioural testing confirmed cognitive impairment in the Morris water maze (p < 0.05), increased anxiety-like behaviour in the elevated plus maze (p = 0.0035), repetitive behaviour in the marble burying assay (p = 0.045), and impaired social interactions (p < 0.05). Transcriptome sequencing of the frontal cortex, an essential region involved in executive functions, cognition, and motor control, revealed predominant downregulation of the Wnt signalling pathway (p = 0.03). Cytoskeletal abnormalities were further coupled to synaptic plasticity deficits, dysregulation of transcription factors implicated in lineage specification, and alterations in neuronal cell numbers. Adnp directly regulated mechanisms of synaptic plasticity through interaction with Camk2a and Dbn1. In heterozygous mice, these protein interactions were disrupted, resulting in aberrant Camk2a phosphorylation at synapses (p = 0.012). Mass spectrometry identified changes in multiple chromatin-interacting proteins and cytoskeletal components, corroborating nuclear and cytoskeletal dysregulation observed at the transcriptomic level. Hi-C analysis detected locus-specific alterations in 3D genome architecture associated with transcriptional changes. INTERPRETATION: We generated a disease-relevant heterozygous Adnp mouse model that recapitulates key molecular and behavioural features observed in patients with Helsmoortel-Van der Aa syndrome. Our findings demonstrate a role for Adnp in chromatin regulation and Wnt signalling, coupled to aberrant expression of cytoskeletal components and synaptic dysfunction. This mouse model provides a mechanistic framework linking chromatin dysregulation to autism-related behaviours and represents a valuable platform for future preclinical studies. FUNDING: This work was supported by the Marguerite-Marie Delacroix Foundation (FFP240064 to C.P.D.), the Research Fund of the University of Antwerp (Methusalem grant "GENOMED" to R.F.K.), ERA-NET NEURON ("ADNPinMED"), and the European E-RARE programme ("IMPACT"). Additional support was provided by a crowdfunding initiative from the German ADNP parent community to support C.P.D.; E.P. was supported by the FWO grant G0A1Z24N. C.A.M. received support from the Marguerite-Marie Delacroix fellowship. D.S. was supported by an EMBO fellowship (ALTF 1564-2025). F.P. was supported by a Human Frontier Science Program Long-Term Fellowship (LT000111/2021-L) and an EMBO Long-Term Fellowship (ATLF 716-2020). W.V.B. acknowledges support from the University of Antwerp (ID46420/48076/50799) and COST Action CA18127 (International Nucleosome Consortium 5INC). W.V.B., F.K., E.P., and C.P.D. acknowledge the IMPULS BOF 2024. Infrastructure support was provided by FWO (including IRI grant I000123N, GOH4216N).
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8. Didinmez Taşkırdı E, Baykan M, Özyurt G, Gençpınar P, Olgaç Dündar N. Neurodevelopmental Assessment, EEG Findings and Epilepsy in Children With Autism Spectrum Disorder: A Retrospective Study. J Autism Dev Disord. 2026.
OBJECTIVE: This study investigated the association between epilepsy and findings from neurological evaluations, including electroencephalography (EEG), neuroimaging, genetic testing, and developmental assessments, in children with Autism Spectrum Disorder (ASD). METHODS: Ninety-nine children with ASD (DSM-5-TR) were retrospectively evaluated at a tertiary center between 2012 and 2021. Data included demographics, EEG, neuroimaging, genetic testing, and developmental assessments. RESULTS: The cohort was predominantly male (76.8%), with a mean age of 10.2 ± 4.7 years. EEG was performed in 51 patients, with abnormalities detected in 43.1%. Epilepsy was diagnosed in 22.2% (n = 22). Among 42 patients who underwent chromosomal microarray analysis, pathogenic variants were identified in 52.4%. Chi-square analysis showed significant associations between epilepsy and abnormal EEG findings (χ²=45.45, p < 0.001) and pathogenic variants (χ²=7.68, p = 0.006), but not gender (p = 0.823) or intellectual disability (p = 0.691). Logistic regression identified abnormal EEG findings as the strongest independent predictor of epilepsy (OR = 48.96, 95% CI: 12.90-190.97), followed by pathogenic variants (OR = 4.38, 95% CI: 1.64-12.10). EEG abnormalities were present in 77.3% of patients with seizures and 6.4% of those without seizures. CONCLUSION: EEG abnormalities and epilepsy are highly prevalent in children with ASD. Abnormal EEG findings and pathogenic genetic variants were strong independent predictors of epilepsy in our cohort. EEG should be strongly considered in children with ASD, particularly those with seizures, developmental regression, unexplained paroxysmal events or pathogenic genetic variants. Prospective studies are needed to determine whether broader, potentially routine EEG at diagnosis is warranted in terms of diagnostic yield, cost-effectiveness and long-term outcomes.
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9. Farkas F, Maruzs B, Kálmán ZE, Klumpler T, Batta G, Péterfia B, Gáspári Z. Modulation of Homer1 EVH1 domain internal dynamics by putative autism-associated mutations. FEBS Lett. 2026.
The EVH1 domain of the Homer1 scaffold protein interacts with the proline-rich region of Shank3, forming a key network within the postsynaptic density. While two mutations (M65I and S97L) in the EVH1 domain have been suggested to be associated with autism spectrum disorder, our results show that neither mutation has a substantial effect on the overall structure or the partner binding properties of Homer1. Compared to the S97L variant, the M65I mutant exhibits larger chemical shift perturbations both upon the mutation itself and during partner binding, while also showing signs of thermal destabilization. Finally, integration of computational and NMR data suggests that both mutations perturb the μs-ms timescale internal motions of the EVH1 domain.
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10. Gürcan E, Watson S, Rutherford MD. Different event-related potential responses during face processing between siblings of autistic individuals and neurotypical infants: A systematic review and meta-analysis. Neurosci Biobehav Rev. 2026: 106768.
Face processing anomalies in autism are well-documented at both behavioural and neural levels. Autism is heritable, and family members of autistic individuals may display autism-like characteristics. We examined early neural markers of face processing using Event-Related Potential (ERP) studies in infant siblings of autistic individuals (ASIBs) up to 12 months of age. We found that ASIBs exhibited longer N290 latency, marginally greater N290 amplitude, and reduced P400 amplitude responses after removing outliers compared to neurotypical (NT) infants. Marginally reduced Nc responses to mothers’ faces were also observed, while Nc and P400 latencies did not differ significantly. Additionally, ASIBs showed greater left hemisphere dominance trends relative to NTs. These findings suggest that potential early neural markers of autism-related face processing differences are detectable in ASIBs within the first year of life.
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11. Knott CE, Roberts JE, Will EA. Capturing Phenotypic Heterogeneity in Differentiated Sensory Processing Profiles: Non-Syndromic Autism and Fragile X Syndrome. Autism. 2026: 13623613261445633.
Proficient sensory processing affords adaptive responses required for daily functioning. Sensory processing differences are common across neurodevelopmental disabilities (NDDs), including autism and fragile X syndrome (FXS), and, in some cases, associated with challenging behaviors. Although sensory processing differences are common in both autism and FXS, little is known about possible variation as a function of genetic etiology, or autism classification. This study characterized sensory processing features and examined associations between these features and challenging behavior in 102 male participants-non-syndromic autism (n = 37), FXS-only (n = 15), FXS + ASD (n = 20), and neurotypical (NT) children (n = 30). Autistic children demonstrated the highest levels of sensory processing differences; however, nuanced group differences were also identified. The autistic groups (autism and FXS + ASD) were similar on hypo-responsivity and sensory seeking, and the FXS groups (FXS-only and FXS + ASD) were similar on hyper-responsivity and sensory seeking. Within-group associations between sensory differences and challenging behavior were relatively similar across groups. Findings have implications for potential etiological mechanisms of sensory processing differences and associated functional consequences. Implications for diagnostic specificity and intervention are discussed.Lay AbstractSensory processing differences are common in neurodevelopmental disabilities such as autism and fragile X syndrome (FXS). Sensory differences include extreme sensitivity to sensory experiences (hyper-responsivity), decreased sensitivity to sensory experiences (hypo-responsivity), and seeking out sensory experiences to an unexpected degree (sensory seeking). While more is known about sensory differences and challenging behaviors in autism, less is known about these patterns in children with FXS. This study examined the profiles of sensory processing differences and patterns of association between types of sensory response and challenging behavior in males between 24 and 69 months of age with FXS with and without co-occurring autism compared with young autistic males. Participant’s parents filled out questionnaires about sensory responses and challenging behaviors. Results showed that sensory hyper-responsivity is likely part of the broader behavioral profile of FXS, whereas hypo-responsivity is more indicative of autism. In addition, results demonstrated comparable associations between types of atypical sensory processing and ratings of challenging behaviors across groups. These findings contribute to our understanding of the similarities and differences between autism and FXS and have important implications for targeted assessment and intervention practices.
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12. Lawson J, Robinson L, Conlon GR, Shalev RA, Cervantes PE, Yoncheva Y, Hirsch GS, Troxel AB, Friedman D, Devinsky O, Castellanos FX. A Phase-2 Open-Label Trial of Cannabidiol to Treat Core and Associated Symptoms of Autism in Children and Adolescents Without Intellectual Disability. J Child Adolesc Psychopharmacol. 2026: 10445463261452514.
OBJECTIVE: To evaluate cannabidiol (CBD) in pediatric patients with autism spectrum disorder (ASD), fluent verbal language and an estimated full-scale IQ of 80 or above. BACKGROUND: Preliminary evidence suggests CBD may ameliorate challenges associated with ASD. Whether CBD benefits pediatric ASD without accompanying intellectual or language impairment remains unknown. METHODS: We enrolled 23 participants, ages 7.8-17.8 (Mean [M] = 11.3 ± 2.8) with ASD and IQ ≥ 80 in a 6-week Phase-2 open-label trial of ≥98% CBD (Epidiolex(®), 100 mg/mL) at 3, 6, or 9 mg/kg/day using a Bayesian optimal interval dosing design. The primary endpoint was the CBD dose associated with the highest response rate (i.e., Clinical Global Impression Scale-Improvement [CGI-I] score = 1 or 2) on a target symptom domain designated individually based on informant report, standardized scales, and clinical observation. Secondary endpoints were effect sizes of changes from baseline in measures assessing ASD core and associated symptoms, and global functioning. Adverse events (AEs) were assessed weekly. Plasma CBD levels and clinical labs were obtained at the final visit. RESULTS: All 23 enrolled participants completed the trial. The highest response (62%) was observed at 9 mg/kg/day (N = 8). Overall, 10 of 23 patients (44%) were responders. Response varied across domains: Irritability/Tantrums (N = 5, 60%), Social (N = 8, 50%), Anxiety (N = 5, 40%), Restricted, Repetitive Behaviors (N = 4, 25%), and Sleep Problems (N = 1, 0%). Dose correlated with individualized CGI-I (r = -0.42, N = 23, p = 0.04).Individualized domain CGI-Severity scores improved from pre-(M = 4.6 ± 0.5) to post-(M = 3.9 ± 0.8) treatment, t((22)) = -4.36, p ≤ 0.001; d = 0.91; 95%CI [0.37,1.03]. Social Responsiveness Scale-2 Total-Score (SRS2-T) had the largest effect size (p ≤ 0.001; d = 1.36, 95% CI [0.78-1.93]).Of 222 reported AEs, 27 unique AEs were considered treatment-related. Most AEs (93%) were mild and expected (82%); none was severe. The most frequent related AEs were increased salivation (30%), increased sleep duration (39%), sleepiness/sedation (26%), increased dream activity (35%), and polyuria (22%). Vital signs, physical exams, weight, liver function tests, and complete blood counts were unaffected. CBD plasma levels did not correlate with response. CONCLUSIONS: In this preliminary study, CBD was well tolerated; AEs were mild-moderate. Mean SRS2-T and subscores decreased significantly with large effect sizes, shifting from the severe to the moderate range. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT03900923.
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13. Liu Y, Yan Y, Wu C, Shen K, Fan W, Li M, Zhao H, Cao Y, Kang X, Wu P, Liu D. Polyacrylonitrile/polypyrrole nanofiber-filled packed-fiber solid-phase extraction coupled with HPLC-FLD for matrix-interference-resistant determination of urinary pteridines and its application in autism spectrum disorder research. J Chromatogr B Analyt Technol Biomed Life Sci. 2026; 1281: 125134.
Pteridines are associated with neuroinflammation and oxidative stress, the core pathological processes of autism spectrum disorder (ASD). Urinary neopterin (NPT), biopterin (BPT), and isoxanthopterin (IXP) are promising non-invasive biomarkers for children with ASD. However, matrix interference from urinary salts and metabolites severely impedes trace pteridine detection, while mainstream analytical methods either require cumbersome derivatization or sacrifice sensitivity for dilution to mitigate matrix effects (ME). This study reports the first application of polyacrylonitrile/polypyrrole nanofibers (PAN/PPy NFs) for the determination of pteridines in urine by packed-fiber solid-phase extraction (PFSPE) coupled with HPLC-FLD, without derivatization. XPS, FTIR and fluorescence experiments confirmed pteridine adsorption on PAN/PPy NFs via synergistic electrostatic attraction, hydrogen bonding and π-π stacking. Validation showed: ME -6.6%-8.2%, R(2) > 0.995, LODs 0.8-5.3 ng/mL, LOQs 2.8-17.6 ng/mL. AGREE (0.61) and BAGI (72.5) verified its compliance with green analytical chemistry principles. Analysis of 33 ASD and 34 healthy urine samples revealed significantly elevated NPT levels in the ASD group (p = 0.011). This efficient, sensitive and green PFSPE-HPLC-FLD method eliminates urinary matrix interference without derivatization, overcoming key limitations of conventional approaches. It provides a reliable tool for urinary pteridine assays in ASD research and supports ASD pathogenesis investigation and exploratory clinical studies.
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14. Neklyudova A, Liu Y, Xia Y, Sysoeva O. Brain mechanisms of auditory perception in autism spectrum disorder: a comparative perspective on tonal and non-tonal languages. Front Syst Neurosci. 2026; 20: 1628536.
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15. Nevin M, Walsh E, O’Donnell GM, Xie H. First Impressions Count: A Systematic Literature Review Exploring Parents of Autistic Children’s First Encounters With Healthcare Professionals. J Autism Dev Disord. 2026.
PURPOSE: First signs of autism are typically noticed in a child’s early development. When parents or carers first become aware of developmental differences in their child, they are likely to experience feelings of concern and uncertainty and may seek advice from healthcare professionals (HCPs). This consultation is a pivotal encounter with respect to how supported parents feel, and whether or not they pursue an autism assessment for their child. While previous reviews have focused broadly on parents’ experiences of and journey to autism assessments for their children, no review has focused specifically on parents’ first experiences with HCPs. METHODS: Using reflexive thematic analysis, this qualitative systematic review synthesised findings from twenty-five studies, with the aim of exploring parents of autistic children’s first experiences with HCPs when they had concerns in relation to their child’s development, and the perceived impact of that first encounter. RESULTS: Three key themes were identified which included: parents’ first encounters with HCPs, which were mostly described as unhelpful; autism awareness and knowledge amongst healthcare professionals as perceived by parents; and the impact of racial, ethnic, and gender biases on this first encounter. CONCLUSION: Findings highlight the importance of HCPs being receptive to parental concerns, especially during first encounters with parents. The importance of autism specific training for healthcare professional, with specific focus on clarifying autism assessment pathways and communicating the heterogenous nature of autism was also highlighted.
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16. Pokoski OM, Engel H, Furnier SM, Gangnon R, Powell P, Reyes N, Travers BG, Wiggins LD, Durkin MS. The Association Between Motor and Social Skills in Young Autistic Children Enrolled in the Study to Explore Early Development. Autism. 2026: 13623613261447759.
Motor difficulties are common in autistic individuals and may contribute to challenges in social development. Understanding the association between motor and social skills could inform interventions to improve developmental outcomes. Using data from the Study to Explore Early Development-a large, diverse sample of rigorously characterized preschool-aged autistic children in the United States-we aimed to (a) describe the frequency of motor challenges using multiple standardized instruments; and (b) evaluate associations between motor and social skills. Children were identified from health and education organizations and birth records. Caregivers completed standardized interviews and questionnaires, and children completed comprehensive developmental evaluations to determine autism status. Among 2,039 children meeting the study autism criteria, 67.3% exhibited motor scores ⩾2 standard deviations below the mean on at least one measure. Motor difficulties were more prevalent in the fine motor (up to 63.4%) than gross motor (14.2%) domain and among children with significant visual reception delays (up to 92.8%) than those without these delays (up to 32.0%). After adjusting for covariates, fine motor skills were significantly associated with social challenges in both functional and autism-specific domains. These findings highlight the importance of motor development in early autism evaluations.Lay abstractMany autistic children have challenges with movement skills, such as crawling, walking, or using their hands for tasks like drawing or eating. These motor difficulties can also affect how children learn, play, and interact with others. Understanding how motor and social skills are connected may help improve early support for autistic children. This study used data from the Study to Explore Early Development, a large research project that included preschool-aged autistic children from diverse communities across the United States. Parents completed interviews and surveys about their child’s development, and each child was evaluated by trained professionals to better understand their strengths and needs. We looked at over 2,000 autistic children and found that about 67% (two out of three) had motor skill scores that were well below what’s typical for their age. Motor difficulties were more common when children used small muscles in the hands and fingers, like when drawing or eating, than when they used large muscles, like when crawling or walking. We also found that children with stronger motor skills tended to have fewer social challenges. These results show that motor delays are not only common in young autistic children but may also be linked to how they develop social skills. Spotting motor difficulties early could help families and professionals better support each child’s development. Supporting motor skills in early childhood, along with communication and behavior, might help autistic children build stronger social connections. By raising awareness about the role of motor skills in autism, we could help make interventions more effective and equitable, leading to autistic children learning, playing, and connecting with others more easily.
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17. Qi XM, Shao J, Zhu QL, Deng ZY, Wang T, Chen HR, Xu LH, Li JJ, Wang M, Xu DX, Wang B, Meng XH. Paternal fenvalerate exposure causes autism-like behavior partly by altering epigenetic reprogramming of the imprinted gene IGF2 in fetal brain and paternal sperm. Ecotoxicol Environ Saf. 2026; 319: 120293.
Fenvalerate, a representative type II pyrethroid insecticide, is well established in the literature. Fenvalerate exerts developmental and neurological toxicity. We assessed whether paternal fenvalerate exposure induces autism-like behavioral alterations in offspring using a mouse model. Behavioral tests, including the three-chamber social interaction, self-grooming, and marble-burying tests, showed altered social and repetitive behaviors in offspring from fenvalerate-exposed fathers. NeuN, a mature neuronal marker, was reduced in the medial prefrontal cortex (mPFC) of weaning offspring from paternal fenvalerate-exposed groups. Nissl staining showed that the number of surviving neurons is reduced in the mPFC of weaning pups with paternal exposure to fenvalerate. Nestin, a marker for neural stem cells, was decreased in the fetal forebrain from paternal fenvalerate-exposed groups. Transcriptome analysis and RT-PCR showed that insulin-like growth factor 2 (IGF2), a neurotrophic factor, was downregulated in the paternal fenvalerate-exposed group. IGF2 protein was reduced in the fetal forebrain from paternal fenvalerate-exposed group. In addition, paternal fenvalerate exposure reduced methylation of the IGF2 imprinted control region (ICR) in fetal forebrain and paternal sperm. In conclusion, autism-like behaviors appear in offspring after paternal exposure to fenvalerate, which may partly be related to disruptions in epigenetic reprogramming of IGF2 in the developing brain and paternal sperm.
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18. Schiano-Visconte M, Balasco L, Casarosa S, Bozzi Y. Microglia, cerebellar inflammation, and autism spectrum disorders: Developmental mechanisms and therapeutic perspectives. Neuroscience. 2026.
Autism spectrum disorders (ASD) are neurodevelopmental conditions characterized by deficits in social interaction and communication, as well as restricted and repetitive behaviors. These conditions often co-occur with medical issues linked to synaptic alterations, which compromise synaptic integrity and are associated with brain circuit dysfunction. Both human and animal studies have identified cerebellar structural and functional alterations in subsets of ASD cases, with evidence of abnormal morphology and disrupted connectivity correlating with symptom severity. Numerous studies further suggest that neuroinflammation and microglia dysfunction may contribute to atypical cerebellar development during critical postnatal windows and may be associated with ASD-like phenotypes. However, the timing and mechanisms underlying the onset of these processes remain unclear, and a primary causal role in human ASD has not been established. This review synthesizes current knowledge on microglia in early stages of cerebellar development and discusses how cerebellar inflammation could be linked to ASD-related phenotypes. A better understanding of these pathological processes and their behavioral correlates may reveal opportunities for early-life intervention strategies.
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19. Sherriff A, Stewart R, Wright W, Docherty L, Dudman K, Young R, Cairns D, Henderson A, Conway DI. Dental general anaesthetic and access to dental services for young people with intellectual disabilities, autism and other educational additional support needs: A population-based record linkage cohort study. Community Dent Health. 2026: 265539×261450852.
Objective: There is evidence to show that young children with educational additional support needs (ASN) have poorer oral health and less access to primary care dental services than their peers however, less is known about the oral health and dental service access of young people with ASN as they embark on secondary education. This study investigates the rates of tooth extraction under general anaesthesia and primary care dental attendance in young people with educational ASN attending secondary school in Scotland. Methods: A multi-cohort study of 214,142 young people followed up from age 12 to 16 years in Scotland using data linkage of three routine databases: Pupil Census; Scottish Morbidity Records; and Management Information and Dental Accounting System. Rates of tooth extraction under general anaesthetic in hospital and access to primary care dental services were compared among young people with ASN to those with no recorded ASN. Results: Tooth extraction under general anaesthesia was higher among young people with autism (Adjusted Risk Ratio (aRR) = 2.48; 95% Confidence Interval (CI) = 1.85 to 3.25) and with intellectual disabilities (aRR = 1.76; 95% CI = 1.43 to 2.16) compared to those with no ASN. Regular attendance at primary dental care was less likely for young people with any ASN, particularly among those with intellectual disabilities and social-related ASN. Conclusions: Young people with ASN experience greater inequalities in oral health and dental care, which would also include preventive interventions, than their peers without ASN. Early intervention through national oral health improvement programmes such as Childsmile may help reduce these inequalities.
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20. Soares AYM, Costa R, Alves JAB, Andrade ALP, Barbalho G, Correa AS, Lima TZ, Laplagne DA, Velho TAF. Vocal and social impairments in songbirds embryonically exposed to an autism risk factor. iScience. 2026; 29(6): 115907.
Autism spectrum disorders (ASD) are complex neurodevelopmental conditions marked by social communication deficits. Although rodent and chicken models have yielded insights into social and sensory abnormalities, their innate vocalizations preclude the study of vocal learning impairments common to autism. Leveraging the vocal learning abilities of zebra finches (Taeniopygia guttata), we investigated how embryonic exposure to valproic acid (VPA) affects vocal development and social behavior. VPA exposure disrupted song acquisition, resulting in impaired tutor imitation, delayed song consolidation, and increased motif variability. These abnormalities co-occurred with social deficits, including reduced modulation of female-directed song and diminished social engagement, and frequency-specific hyperacusis, a sensory phenotype frequently reported in autism. Together, these findings demonstrate that embryonic VPA exposure disrupts the development of learned vocalizations and social behavior in a vocal learner. By linking early environmental insult to persistent alterations in communication-related behaviors, this work establishes a foundation for future mechanistic and therapeutic studies.
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21. Volk T, Lukito S, Radua J, Luksch H, Roessner V, Beyer N. Atypical cytokine profiles in people on the autism spectrum: a comprehensive systematic review and meta-analysis including 54 cytokines. Mol Psychiatry. 2026.
Atypical peripheral blood cytokine concentrations have been shown in autism, but no clear pattern has been observed. This systematic review and meta-analysis summarised current state of findings, expanded the range of cytokines, accounted for study risk of bias, and examined relations between cytokines and autism traits. Literature comparing peripheral blood cytokine in autistic and non-autistic people was systematically searched in Ovid(®) Embase, MEDLINE and APA PsycINFO, Web of Science(™) and Scopus, resulting in 98 studies and 54 cytokines (4236 autistic, 3333 non-autistic controls; age 2 to 65 years) in the meta-analysis. Study risk of bias was assessed using adapted Newcastle-Ottawa Scale. Compared to controls, autistic people had elevated levels of IL1-beta (Hedges’ g = 0.620, 95%CI[0.32, 0.92]), IL4 (g = 0.245, 95%CI [0.07, 0.42]), IL6 (g = 0.365, 95%CI [0.011, 0.62]), IL8 (g = 0.384, 95%CI [0.15, 0.62]), IFN-gamma (g = 0.404, 95%CI [0.09, 0.72]), TNF-alpha (g = 0.31, 95%CI [0.11, 0.51]), CXCL1/GRO-α (g = 0.364, 95%CI [0.058, 0.670]) and MIF (g = 0.560, 95%CI [0.14, 0.98]). Over a third of studies were classified as having a high risk of bias; their removal revealed higher IL7 and IL1RA in autism relative to controls. Narrative synthesis produced no strong evidence for an association between cytokine and autism traits among autistic individuals. Altogether, our findings support a predominance of pro-inflammatory cytokines, while also indicating potential modulatory contributions from inhibitory cytokines, which reflect group-level differences between autistic and non-autistic individuals, but not variations of autism traits within the autistic population. However, higher-quality studies with low risk of bias are needed before firm conclusions can be drawn.
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22. Zhang L, Luo L, Xia Q, Li F. Research on the intervention of Mandala drawing therapy for social interaction disorders in children with autism. Front Psychiatry. 2026; 17: 1757575.
Social communication disorder is a core impairment in children with Autism Spectrum Disorder (ASD) and is essential for establishing connections with the external world. This study aimed to explore the effects of Mandala drawing therapy on social interaction and communication skills in children with ASD. Twenty-three children with ASD from H Special School were assigned to an experimental group or a control group. The experimental group received Mandala drawing therapy with standard rehabilitation training for one month, while the control group only participated in standard rehabilitation training. The Autism Treatment Evaluation Checklist (ATEC) was used to assess language, communication, and social skills before and after the intervention. Results showed that the experimental group exhibited greater within-group improvements in language, communication, and social skills compared with pre-test scores, whereas no statistically significant improvements were observed in the control group. No statistically significant between-group differences were detected post-intervention. These findings suggest that mandala drawing therapy, when used as an adjunct to standard rehabilitation, may contribute to within-group improvements in language and social communication skills, but no significant advantage over standard rehabilitation was observed.