Pubmed (TSA) du 09/05/26
1. Albores-Gallo L, Zavaleta-Ramirez P, Cruz-Cruz C, Astudillo-García C, Rosetti M. Characterization of regression in a clinically referred sample of children and adolescents with autism or other developmental delays. J Psychiatr Res;2026 (Apr 29);199:269-275.
BACKGROUND: Regression is a common symptom of autism spectrum disorder (ASD), but its prevalence in low or middle-income countries is unknown. This study characterizes regression in a large sample of Mexican children whose parents sought a clinical assessment after having concerns about their child’s development. METHOD: Certified professionals in the use of a semi-structured standardized interview for ASD assigned the diagnosis based on DSM-5 criteria. RESULTS: Regression was more frequent in children with autism spectrum disorder (ASD) compared to those with other developmental delays (DD) (48.01% vs. 28.0%, p < 0.001), specifically Language (ASD = 37.7% vs. DD = 27%, p = 0.047), and Social regression (ASD = 21.8% vs. DD = 7%, p = 0.001). The mean age of language regression was 24 months (SD = 12.3) in both groups. The ASD regressor group showed higher mean significant scores in Socio Communication and Restrictive and Repetitive Behavior domains vs. ASD non-regressors. Boys in the ASD regressor group show a higher frequency of deficits in socio-emotional reciprocity and hypo/hypersensitive symptoms. CONCLUSION: Regression is a common symptom in ASD, and specifically in boys, confers higher severity of ASD symptoms.
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2. Ball RC, Richdale AL, Lawson LP, Morris EM. Barriers to Mental Healthcare for Autistic and Non-Autistic Adults: An Investigation of Number, Severity and Type of Barriers Encountered. Autism;2026 (May 9):13623613261433100.
Many autistic people experience poor mental health but often face barriers to accessing appropriate care. This study examined whether autistic adults encounter more or different barriers to mental healthcare compared to non-autistic adults. Participants (non-autistic n = 173; diagnosed autistic n = 173; self-identified autistic n = 158) completed an online survey assessing 29 barriers adapted from the Barriers to Healthcare Checklist, rated by presence and severity. Barriers were categorised as person, provider or system related. Analyses of variance compared groups on the mean number and severity of barriers, and chi-square tests compared group incidence of each barrier. Overall, systemic barriers (e.g. cost) and difficulties with system navigation (e.g. finding services) were the most commonly reported barriers and rated as the most severe. Autistic participants experienced a significantly higher number and severity of barriers than non-autistic participants. Provider-related barriers (practitioners’ knowledge, attitudes and skills) were particularly severe for autistic groups. In contrast, person-level barriers (e.g. sensory sensitivities), though often reported in general healthcare, were less impactful in mental healthcare. Findings suggest that efforts to improve mental healthcare access for autistic people should prioritise addressing the most frequent and severe barriers: system and navigation challenges, and practitioner knowledge and skills in autism.Lay abstractAutistic people often experience poor mental health but face many challenges when trying to access mental healthcare. These challenges can include things like high costs, difficulty finding the right support or healthcare professionals not understanding autism. We looked at whether autistic adults face more or different barriers to mental healthcare compared to non-autistic adults. We surveyed over 500 adults, including those with a formal autism diagnosis, those who self-identified as autistic, and non-autistic adults. The survey asked about 29 possible barriers to getting mental healthcare. These included things related to the person (such as anxiety, sensory sensitivities or difficulty finding services), the healthcare provider (like psychologists’ and psychiatrists’ lack of autism knowledge, or poor communication) and the healthcare system (such as long waiting lists or high cost). We asked whether participants had experienced each barrier and how much each one affected their ability to get help. We found that nearly everyone experienced some barriers, especially challenges with the healthcare system and knowing how to find help, but autistic participants faced more barriers and were more strongly affected by many of them than non-autistic participants. Compared to non-autistic people, autistic people had a lot of problems with providers which prevented them getting the care they needed. We concluded that, to improve access to mental health support for autistic adults, we need to focus on the most common and harmful barriers: making the system easier to use, reducing costs and improving practitioners’ understanding of autism and working with autistic people. By addressing these areas, we can help ensure that autistic people receive the mental healthcare they need.
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3. Cañamero LM, García-Blanco A, Udeanu A. Perceived quality and needs in speech-language therapy for Spanish children with Rett and Angelman Syndromes. J Commun Disord;2026 (May 9);122:106658.
INTRODUCTION: Early Childhood Intervention (ECI) services in Spain support children aged 0-6 and their families, particularly those with developmental disorders. Recent ECI practice emphasizes family-centered, relational, and participatory approaches. This study explored families’ perceptions of speech-language therapy for children with Rett syndrome (RTT) and Angelman syndrome (AS), aiming to evaluate perceived service quality, identify unmet needs, and assess the impact on children’s communicative development. METHODS: A cross-sectional, descriptive study was conducted using a purpose-designed custom online survey. A convenience sample of 36 families was recruited through national and regional associations supporting RTT and AS. Due to the low prevalence of RTT and AS, analyses were conducted with an explicitly exploratory aim, emphasizing descriptive and relational patterns over inferential generalization. Quantitative analyses included correlation tests, paired-samples t-tests, multiple regression, and reliability analyses. RESULTS: Families’ perceptions of professionals were primarily associated with the availability of resources, the adequacy of facilities, and the professional’s attentiveness and empathy. No statistically significant associations were observed between socioeconomic status or parental quality of life and perceived service quality, and session frequency did not emerge as a predictor of perceived therapeutic effectiveness. Nevertheless, most families reported improvements in their children’s communication and interaction abilities following intervention. These findings suggest the potential value of relational, individualized, and collaborative practices, while highlighting persistent gaps in professional availability, interdisciplinary coordination, and caregiver support. The small sample size limits generalizability, and results should be interpreted cautiously. CONCLUSIONS: Speech-language professionals may play a central and multidimensional role within ECI services for children with RTT and AS. Families emphasized the need for increased accessibility, emotional support, and integrated team-based approaches addressing communication, motor, and psychosocial development. Individualized and cooperative strategies could potentially enhance service quality and foster active family engagement. A ten-point framework is proposed to guide potential enhancement in ECI programs, support professional-family collaboration, and strengthen families’ capacity to participate actively in their children’s developmental care.
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4. George GM, Kumareshan N. Quantum convolution searched binary neural networks based autism spectrum disorder detection using MRI images in cloud computing. Psychiatry Res Neuroimaging;2026 (Apr 27);361:112226.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disease that causes discrepancies in social interaction and behavioral changes. The developments of neuroimaging techniques, like Magnetic Resonance Imaging (MRI) is employed to detect brain abnormalities. Due to the heterogeneity of disease severity and symptoms, the detection of ASD is difficult. To solve such complexity, a novel model named Fractional Painting Training Based Optimization trained Quantum Convolution Searched Binary Neural Network (FPTO_QCSBNN) is proposed for ASD detection in cloud. A cloud-based detection system offers the analysis and storage of large-scale neuroimages. Moreover, it provides faster diagnosis with scalable storage. Initially, the cloud system is simulated, and pre-processing is done using Mid-Point filter and Region of Interest (ROI) extraction. Image enhancement is done by gamma correction method, and pivotal region is extracted using functional connectivity. The optimal grid selection in pivotal region extraction is done using FPTO, and features are extracted from enhanced image. Using features and pivotal region extracted image, QCSBNN detects ASD, and it is trained by FPTO. Furthermore, developed FPTO_QCSBNN attains the accuracy, True Positive Rate (TPR), and True Negative Rate (TNR) of 91.37%, 91.32%, and 91.89%.
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5. Giovagnoli G, Emberti Gialloreti L, Guccione M, Fatta LM, Arturi L, Mazzone L. Sexual and Romantic Relationships in Youth with Autism Spectrum Disorder: Preliminary Report of an Italian Psychosexual Training Program. Arch Sex Behav;2026 (May 9)
The existing literature highlights the importance of psychosexual education for adolescents with autism spectrum disorder (ASD). We developed a group training program on sexuality and affectivity, specifically designed for adolescents with ASD, with the aim of investigating changes in psychosexual functioning after the intervention and evaluating its clinical utility. The program, consisting of 10 sessions and conducted by two expert clinicians, was administered to three small groups (maximum six participants per group), for a total of 17 adolescents (aged 12-18) diagnosed with ASD without intellectual disability or language impairment. Parent-report measures of sociosexual behaviors were collected at baseline (T0), after the intervention (T1), and at a three-month follow-up (T2). Cognitive abilities and ASD symptom severity were also assessed at baseline for each participant. No significant differences emerged among the three groups in terms of cognitive functioning or ASD symptom severity. Analysis of the entire sample revealed a significant improvement in sex education knowledge and a reduction in dysfunctional sexual behaviors following participation in the program, regardless of cognitive level or symptom severity. Conversely, no significant changes were found in social behaviors related to sexuality, privacy awareness, or parental concerns. These findings suggest that participation in a psychosexual group training program tailored for adolescents with ASD may enhance knowledge and reduce problematic behaviors in the sociosexual domain. Future implementations may benefit from increasing the number of sessions, employing both self- and parent-report measures, including satisfaction and fidelity assessments, and involving caregivers in parallel sessions to maximize clinical impact.
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6. Jiang X, Liang Y, Lu J. Correction: Advancing understanding of the mechanisms of autism spectrum disorder through perinatal risk factors. J Neural Transm (Vienna);2026 (May 9)
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7. Kang J, Wu J, Li Y, Mao W, Li X, Zhou T, Chen H. rTMS Modulates Static and Dynamic Brain Functional Networks in Children with Autism Spectrum Disorder: An EEG Microstate Study. Brain Topogr;2026 (May 9);39(4)
Repetitive Transcranial Magnetic Stimulation (rTMS) shows promise for treating Autism Spectrum Disorder (ASD), but its impact on the temporal dynamics of large-scale brain networks remains unclear. This study investigated the modulatory effects of rTMS on static and dynamic brain functional networks in children with ASD. Thirty-two children were randomized into an active rTMS group (1 Hz over the dorsolateral prefrontal cortex) and a sham control group. Resting-state EEG and behavioral assessments were conducted before and after a 9-week intervention. We employed a multi-dimensional analysis approach, combining microstate temporal parameters, static functional connectivity based on the weighted Phase Lag Index (wPLI), and dynamic complexity measured by Fuzzy Entropy. Results indicated that intrinsic features of Microstate B were significantly correlated with social relating deficits. Although rTMS did not induce significant interaction effects in standard microstate temporal parameters, it significantly enhanced static functional connectivity strength and increased the dynamic complexity of brain networks across all microstates. These findings suggest that rTMS exerts its therapeutic effects by strengthening network integration and restoring neural flexibility rather than simply altering the duration of brain states. The study underscores the value of network-based EEG metrics in elucidating the neuroplastic changes induced by neuromodulation in ASD.
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8. Kim J, Lee S, Hwang E, Jung H, Lee C, Choi SH, Lee S, Kim S, Moon H, Kim J, Lee G, Kim YG, Shin S, Kang H, Kim SJ, Gee HY, Kim SG, Lee E, Kim E. Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences. Mol Psychiatry;2026 (May 9)
CHD8 is a chromatin remodeler implicated in autism spectrum disorders (ASD) and multiple neurodevelopmental disorders, yet heterozygous Chd8-mutant mouse lines often exhibit only mild ASD-related phenotypes, leaving its role unclear. Because a complete knockout of Chd8 causes embryonic lethality, we generated viable homozygous Chd8-mutant mice carrying the human CHD8-Asn2373LysfsX2 mutation using a hybrid (C57BL6/J × 129/Sv) genetic background. Compared to heterozygous Chd8(+/N2373K) mice, the homozygous Chd8(N2373K/N2373K) mice showed more robust phenotypes, including increased ASD-related behaviors and brain volume, decreased cerebral blood volume/flow, brain rhythms, and synaptic transmission, and ASD-related transcriptomic changes. Notably, while Chd8(+/N2373K) mice on a pure background predominantly displayed behavioral deficits in males, the homozygous mutants in the hybrid background exhibited more pronounced female phenotypes, suggesting the interaction of genetic background and mutation strength. A direct comparison of Chd8(+/N2373K) and Chd8(N2373K/N2373K) mice on the same hybrid background across brain volume, cerebral blood flow, neuronal firing, synaptic transmission, and transcriptome revealed a gene dosage-dependent attenuation of sexual dimorphic phenotypes that varied by developmental stage and brain region. Transcriptomic analyses further implicated pathways related to synaptic function, RNA splicing, and mitochondrial activity in mediating differences in male-female protection and susceptibility. Thus, a homozygous Chd8 mutation not only intensifies ASD-related traits but can also diminish typical sex-specific severity patterns, uncovering a novel link between mutation strength and sexual dimorphism in ASD.
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9. Li M, Zhang J, Chen J, Li G, Yang J. Reduced IL-10 in the early postnatal period contributes to pro-inflammatory phenotype and autism-like behavior in offspring mice induced by maternal hypothyroidism during pregnancy. Cytokine;2026 (May 9);203:157167.
OBJECTIVE: To investigate the dynamic changes of five key cytokines in the prefrontal cortex of offspring from maternal hypothyroidism at different developmental time points and further identify potentially critical cytokines based on the magnitude and timing of their alterations. METHODS: Pregnant C57BL/6J mice were rendered hypothyroid with 0.2 g/L methimazole in drinking water from gestational day 9 to postnatal day 10 (GD9-P10). Two experiments were conducted: 1. dynamic profiling of IL-10, IL-6, IL-17A, IL-1β, and TNF-α in the medial prefrontal cortex of offspring at E15/17/19 and P0/3/7/14/21/42; 2. intraperitoneal IL-10 (100 ng/kg) or saline administered to offspring from P3 to P10, followed by cytokine assays and behavioral tests at P21 and P42. RESULTS: IL-10 levels in the model group fell significantly at P3 and remained low till P10, whereas IL-6, IL-17A, IL-1β, and TNF-α rose synchronously from P14. Exogenous IL-10 administration restored all cytokines to control levels and markedly ameliorated autism-like behaviors in offspring. CONCLUSION: The reduction in IL-10 may represent the earliest cytokine alteration, which may be involved in mediation of autism-like phenotypes after maternal hypothyroidism; early postnatal IL-10 supplementation may serve as an effective approach to re-establish anti-inflammatory homeostasis and alleviate behavioral abnormalities, providing a novel time window and molecular target for immune-based intervention in ASD.
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10. Meyer-Schuman R, Cherry F, Sui Y, Papastathopoulos-Katsaros A, Zhong Y, Li Y, Wang T, Hennick K, Karunakaran D, Berk-Rauch H, Liu Z, Chakravarti A, Nowakowski T, Eichler EE, Zoghbi H. A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism. bioRxiv;2026 (May 9)
Autism affects males four times more often than females, yet the basis of this sex bias remains unclear. One hypothesis is that hypomorphic variants in X-linked genes-genes where loss-of-function alleles cause syndromic neurodevelopmental disorders (NDDs) predominantly in females-produce milder, non-syndromic phenotypes in hemizygous males. We tested this by investigating cis-regulatory elements (CREs) of MECP2 , a dosage-sensitive X-linked gene. Using a massively parallel reporter assay in human neurons, we mapped transcription factor binding sites within MECP2 CREs and tested autism-associated variants for functional impact. We identified two noncoding variants that change CRE activity, each with a male-biased phenotype. One of these, a promoter variant, disrupts NFY binding and reduces MECP2 expression by ∼30%, a magnitude that produces autism-like phenotypes in mice. These findings suggest noncoding MECP2 variants can cause non-syndromic, male-biased autism, and provide a framework for uncovering regulatory variants in other X-linked NDD genes that may contribute to autism’s missing heritability.
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11. Nicholas DB, Nelson H, Shafai F, Edelson SM, Bal V, Lawson W, Bauman M, Hendren R, Trollor JN. Examining the Lived Experiences of Older Autistic Adults: A Synthesis Review of Qualitative Literature. J Autism Dev Disord;2026 (May 9)
PURPOSE: This scoping review includes the qualitative literature published from 2013 to 2024 exploring health, healthcare and quality of life among older Autistic adults. Aims were to identify evidence of later life experiences and outcomes for this population. METHODS: The review was based on Joanna Briggs Institute (JBI) scoping review methodology, with keywords searched within five relevant databases. Studies comprised peer reviewed articles with qualitative or mixed method designs addressing the quality of life, health or healthcare of Autistic adults in mid and later years (50 years and older). Participants in the reviewed studies included Autistic individuals, including those with or without intellectual disability, and/or individuals who support this population (e.g., personal supporters, caregivers, healthcare or service providers). RESULTS: A total of 12 papers were found that had qualitative data and met inclusion criteria. These studies cumulatively identified themes related to (i) aging with autism, with subthemes of sense of self and identity, connection, deriving enjoyment or meaning, and navigating health and healthcare; and (ii) service gaps, with subthemes of service issues, factors that mediate the effectiveness of supports, and professional knowledge gaps. CONCLUSION: Study authors advocate for increased research on aging and autism, improved services, and enhanced training and capacity-building for professionals in this field.
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12. Ozcelik F, Duman N, Kiraz A, Oz O, Demir M, Dogan A, Ozturk S, Cicek D, Trabzon GD, Ozkul Y, Per H, Dundar M. Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review. Neurogenetics;2026 (May 9);27(1)
Kabuki syndrome is a rare disorder characterized by growth retardation, distinctive craniofacial features, intellectual disability, and congenital anomalies that can affect various systems. Disease-causing variants in KMT2D and KDM6A, two genes that regulate transcription via histone modifications, are responsible for most of the cases. We retrospectively reviewed the medical records and molecular studies of eight patients suspected of Kabuki syndrome in four centers in Turkey between 2016 and 2021. We detected eight patients with a definitive diagnosis of Kabuki syndrome. All patients had intellectual disability/developmental delay and some of the distinctive dysmorphic features. Most of the clinical presentations occurred at a frequency similar to the current literature. Seven patients had pathogenic variants in the KMT2D gene, while three variants were previously unreported. One was diagnosed with his characteristic clinical findings. A patient with a novel KMT2D variant had recurrent bone fractures. Kabuki syndrome affects various systems, necessitating a multidisciplinary approach to diagnosis and follow-up. Clinical findings, as well as molecular studies, are valuable in diagnosis. In this study, we clarify the signs and symptoms of the patients and contribute to the molecular spectrum of Kabuki syndrome.
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13. Ozsagir SA, Trabzon G. Managing the dual challenge: Autism spectrum disorder and type 1 diabetes mellitus in pediatric populations. J Pediatr Nurs;2026 (May 9);89:380-381.
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14. Wu S, Li X, Lin F, Yang W, Jiang C, Wen Z, Xiang H, Zhao Z, Zhou A, Liu X, Wang X, Wu M, Shen Y, Wang H. Abnormal functional connectivity of dynamic brain network in toddlers with autism and its correlation with symptoms. BMC Psychiatry;2026 (May 9)
BACKGROUND AND OBJECTIVE: The pathogenesis of autism spectrum disorder (ASD) remains unclear. Diagnosis relies on symptoms and relevant scales, which are highly subjective. Moreover, most diagnoses are made after the age of 3, delaying treatment opportunities. This study aimed to explore dynamic functional network connectivity (dFNC) in toddlers with ASD aged 1-3 years, to identify group-level differences in dynamic functional connectivity (FC) patterns and investigate their associations with autistic symptoms, with the goal of providing preliminary neuroimaging insights into the neural mechanisms underlying ASD during this critical developmental window. METHODS: Magnetic resonance imaging (MRI) data of 41 toddlers diagnosed with ASD and 23 age- and sex-matched normal development control (NC) individuals were collected. We examined group differences in dFNC properties, including temporal characteristics of brain states, mean dwell time (MDT), state occurrence rate (OR), and state transition frequency. Correlation analyses were performed to assess the relationships between these dFNC metrics and the severity of autistic symptoms. RESULTS: Compared with the NC group, toddlers with ASD spent more time in a brain state characterized by globally weak connectivity and a notable lack of between-network functional connectivity, with a significantly higher OR and nominally longer MDT. They also showed a nominally reduced MDT in a brain state marked by strong within-network connectivity and enhanced modular organization across multiple functional networks. Exploratory correlation analyses between autism metrics and dFC measures suggested several nominal associations (uncorrected p < 0.05). CONCLUSION: Toddlers with ASD exhibit abnormal dFNC patterns, characterized by altered temporal properties of brain states and disrupted state-related connectivity profiles. These results provide empirical evidence for altered dynamic brain organization in early ASD, contributing to a better understanding of its neural underpinnings during this critical developmental window.