Pubmed du 17/06/25
1. Abellán-Álvaro M, Primo-Hernando L, Martínez-Rodríguez E, Lanuza E, Santos M, Agustín-Pavón C, Torres-Pérez JV. Altered Microglial Plasticity in the Periaqueductal Grey of Pre-Symptomatic Mecp2-Heterozygous Mice Following Early-Life Stress. Neuromolecular Med. 2025; 27(1): 46.
Rett syndrome (RTT), a severe neurodevelopmental disorder primarily affecting girls, is commonly caused by MECP2 loss-of-function mutations. Key symptoms include motor impairments, typical hand stereotypies and intellectual disability. Moreover, although not thoroughly studied, anxiety, heightened stress sensitivity, and aberrant pain perception are also an important component of the RTT phenotype. Emerging evidence suggests that early-life stress (ELS) worsens Mecp2-related phenotypic alterations in mice. Microglia, the resident immune cells within the central nervous system, play a critical role in RTT pathophysiology, yet the combined impact of ELS and Mecp2 deficiency on microglia has not been studied. Previously, we observed reduced activation of the periaqueductal grey (PAG, a cerebral structure involved in pain modulation, autonomic control, and defensive behaviours) in Mecp2-heterozygous (Mecp2-het) mice after thermal stimulation. Here, we investigated the impact of ELS on microglia morphology in the PAG under Mecp2 deficiency. To this end, we analysed microglia in the PAG of presymptomatic Mecp2-het mice previously subjected to maternal separation (MS) as a model of ELS, alongside corresponding control animals. Brain sections were immunolabelled for IBA1, a pan-microglial marker. Microglial cells within the PAG were evaluated for expression levels, morphological characteristics, and fractal properties. While global PAG analyses showed minimal differences, subdivision-specific analyses revealed significant microglial alterations. These findings suggest that ELS exacerbates Mecp2-related neurodevelopmental deficits, impairing microglia in a region-specific manner. Our data points to a microglial failure to morphologically adapt, rather than overt structural loss, in the PAG that may underlie some of the neurological dysfunctions observed in RTT.
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2. Anderer S. CDC: Better Screening Access Drives Rise in Autism Diagnoses. Jama. 2025; 333(23): 2043.
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3. Azevedo M, Martins A, Pereira T, Couto PS, Lousada M. The Effects of PROsyntax in Children with Developmental Language Disorder and Autism Spectrum Disorder: A Nonrandomized Controlled Trial. Autism Dev Lang Impair. 2025; 10: 23969415251350586.
BACKGROUND: Children with autism spectrum disorder (ASD) and children with development language disorder (DLD) often experience syntactic impairments. It is of the utmost importance to implement evidence-based intervention at the earliest possible stage to mitigate the adverse effects of these difficulties. Internationally, several programs are supported by scientific evidence. In Portugal, there are currently only two intervention programs, one of which is PROsyntax. However, its effectiveness has not yet been established. AIM: This study aims to determine the effects of PROsyntax on expressive and receptive syntax in preschool-age children with syntactic impairments diagnosed with DLD or ASD. METHODS AND PROCEDURES: This study is a nonrandomized controlled trial with a nonprobabilistic convenience sample. Thirty-one children aged between 3 and 6 years were recruited and allocated into an experimental group (EG, intervention group) (n = 14) and a control group (CG, without intervention) (n = 17). A blind pre- (T1) and postintervention (T2) assessment was conducted using two standardized instruments (SIN:TACS for expression and Subtest 3 of Avaliação da Linguagem Oral (ALO) for comprehension). Children in the EG received intervention with PROsyntax, comprising 24 sessions, biweekly, lasting 1 hr each. The intervention was conducted within the school setting by a speech and language therapist. OUTCOMES AND RESULTS: Statistically significant improvements were observed in the EG compared to the CG in both expressive (F(Time × Group)(1,27) = 293.22; p < .001; η(p) (2) = 0.92) and receptive (F(Time × Group)(1,27) = 147.18; p < .001; η(p) (2) = 0.85) syntax. Large effect sizes were found (SIN:TACS: d = 4.07 (DLD) and d = 11.67 (ASD); ALO: d = 3.29 (DLD) and d = 4.31 (ASD)). Strong correlations between measures were observed at both time points. Postintervention, the CG also received the intervention and showed comparable gains. High satisfaction ratings were reported by both families and early childhood educators. CONCLUSIONS AND IMPLICATIONS: The findings provide preliminary evidence supporting the effects of PROsyntax in improving expressive and receptive syntactic skills in preschool-age children with ASD or DLD. These findings have important implications for clinical practice, suggesting that explicit interventions can yield significant gains in preschool-age children with syntactic impairment. However, the nonrandomized design, small sample size, and absence of long-term follow-up limit the generalizability of results. Further research is needed to confirm these effects and explore differential responses across diagnostic groups.
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4. Belenska-Todorova L, Zamfirov M, Todorov T, Atemin S, Sleptsova M, Pavlova Z, Kadiyska T, Maver A, Peterlin B, Todorova A. Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants. Cells. 2025; 14(12).
Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including SHANK3, DLG3, NALCN, and PACS2 which are critical for synaptic signaling imbalance, CEP120 and BBS5 for ciliopathies, SPTAN1 for spectrins structure, SPATA5, TRAK1, and VPS13B for neuronal organelles trafficking and integrity, TAF6, SMARCB1, DDX3X, MECP2, and SETD1A for gene expression, CDK13 for cell cycle control, ALDH5A1, DPYD, FH, and PDHX for mitochondrial function, and PQBP1, HUWE1, and WDR45 for neuron homeostasis. Novel single nucleotide variants in the SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches.
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5. Cevher Binici N, Kutlu A, Yazan Songür Ç, Sabah Barış HE. Comparative analysis of regressive and non-regressive autism: a study of clinical patterns and environmental risk factors in Turkey. Int J Psychiatry Clin Pract. 2025: 1-8.
OBJECTIVE: This study compared clinical features, symptom severity, and prenatal/perinatal risk factors in children with regressive (ASD-R) and non-regressive autism spectrum disorder (ASD-NR) in a Turkish paediatric sample. METHOD: A retrospective cross-sectional study was conducted with 143 children aged 2-6 years diagnosed with ASD, grouped as ASD-R (n = 29) or ASD-NR (n = 114). Symptom severity was assessed using the CARS, AuBC, and ABC. Data on prenatal and perinatal factors, epilepsy, and parental age were collected. RESULTS: No significant differences were found in CARS, AuBC, or total ABC scores, except for higher lethargy/social withdrawal scores in the ASD-NR group. Prenatal and perinatal risk factors and epilepsy prevalence were similar. However, parental ages at birth were significantly higher in the ASD-R group. Logistic regression did not yield significant predictors of regression. CONCLUSION: The findings suggest that prenatal and perinatal factors may influence developmental regression in ASD when interacting with genetic vulnerability. Longitudinal studies are needed to clarify the role of early environmental exposures and epigenetic mechanisms in regression patterns. Childhood Autism Rating Scale (CARS) indicated moderate to severe autism in both groups, with no significant differences in severity between the groups.On the ABC scale, the lethargy/social withdrawal subscale were higher in the ASD-NR group compared to the ASD-R group.The paternal ages of ASD-R group at birth were older than those of ASD-NR group.No significant differences were found between the two groups in terms of prenatal and perinatal risk factors.Although epilepsy is often associated with regressive autism, the prevalence of epilepsy was found to be similar between the ASD-R and ASD-NR groups in this studyFuture research should focus on larger samples and prospective designs to enhance reliability.Longitudinal studies are needed to explore neurodevelopmental trajectories in ASD-R and ASD-NR and their natural course.Investigating epigenetic mechanisms and gene-environment interactions may provide insights into ASD aetiology and interventions. eng.
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6. Gangi DN, Corona L, Wagner L, Weitlauf A, Warren Z, Ozonoff S. In-home Tele-assessment for Autism in Toddlers: Validity, Reliability, and Caregiver Satisfaction with the TELE-ASD-PEDS. J Dev Behav Pediatr. 2025; 46(3): e261-e8.
OBJECTIVE: This study focused on in-home use of a tele-assessment tool for autism diagnosis in young children, the TELE-ASD-PEDS (TAP). Psychometric properties, caregiver experiences, and perceptions of feasibility were examined among families likely to experience barriers to in-person evaluation. METHODS: One hundred eighty-two children between 18 and 42 months of age were recruited because of positive screening, primary care concerns, or early intervention referral. All participants completed initial tele-assessment including the TAP. Approximately 2 weeks later, a second visit was conducted: 92 were randomized to a repeat TAP administration by telehealth and 90 were randomized to an in-person evaluation. Caregivers completed surveys regarding challenges with technology and satisfaction with telehealth assessment. RESULTS: Overall, 77% of the sample was diagnosed with autism spectrum disorder (n = 140). There were few diagnostic disagreements (n = 10, 6%) between initial and second evaluations, with disagreements equally distributed between second visit type. Diagnostic outcomes (autism vs no autism) agreed between telehealth and in-person evaluation for 94% of cases, kappa = 0.82. Outcomes agreed between 2 telehealth visits for 94% of cases, kappa = 0.84. Test-retest reliability of total TAP scores across 2 administrations was strong, intraclass correlation coefficient = 0.85. Very few caregivers reported challenges with technology during telehealth appointments (<6%); 92% reported that there was nothing they would change about the telehealth visit. Examiners also reported high satisfaction with telehealth assessments. CONCLUSION: In-home use of the TAP is valid, reliable, feasible, and acceptable to caregivers. Findings support the continued use of telehealth assessment for autism in toddlers, which can reduce disparities in access to timely diagnostic services.
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7. Jaisle EM, Musser ED, Yon M, Garcia S, Piergies AMH, Miller M. Do Infant Heart Rate Variability and Visual Attention Predict Autism and Concerns for ADHD?. J Atten Disord. 2025: 10870547251345539.
OBJECTIVE: Investigate whether patterns of heart rate variability (indexed via respiratory sinus arrhythmia) and visual attention at 12 to 18 months of age predict elevated ADHD symptoms, autism, or neither during the preschool period. METHOD: Ninety infants 12 to 18 months of age (M = 17.27, SD = 1.93; 36 females; 82.2% non-Hispanic) participated in a split-screen eye-tracking task of dynamic social and non-social moving objects. Respiratory sinus arrhythmia was derived from heart rate data collected at baseline and during the task condition. Between 24 and 65 months of age (M = 38.22, SD = 11.14), participants were evaluated and classified into one of three outcome groups: ADHD Concerns (n = 21), Autism (n = 12), or Comparison (i.e., non-Autism/non-ADHD Concerns; n = 57). RESULTS: The ADHD Concerns group exhibited significantly less whole-screen looking time (t(76) = -2.98, p = .004, d = 0.82) and spent a significantly lower proportion of time attending to the social portion of the stimulus (t(76) = -2.53, p = .01, d = 0.67) than the Comparison group. Respiratory sinus arrhythmia reactivity moderated the association between proportion of time spent looking at the social portion of the stimulus in infancy and ADHD symptoms during the preschool period (b = 0.004, 95% CI [0.0001, 0.01], t(89) = 2.11, p = .04), such that greater quantity/intensity of ADHD symptoms was associated with a smaller proportion of look time to the social portion of the stimulus for infants engaging in HRV withdrawal, but not HRV augmentation. Hypotheses focused on autism were not supported. CONCLUSIONS: Infants demonstrate distinct patterns of visual attention predictive of elevated ADHD symptoms in the preschool period. Heart rate variability may also demonstrate predictive utility in the context of early ADHD when examined in relation to social attention, but not independently.
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8. Lee Y, Bong G, Song DY, Yoo H. Combination of Two Primary Screening Instruments (K-SCQ and K-SRS-2) and Setting of New Cutoff Values to Improve Diagnostic Accuracy of Autism Spectrum Disorder in Young Children. Psychiatry Investig. 2025.
OBJECTIVE: This study aimed to explore the diagnostic validity of primary screening instruments (Korean version of the Social Communication Questionnaire [K-SCQ] and Korean version of Social Responsiveness Scale second edition [K-SRS-2]) in Korean children aged 10-60 months and to examine patterns of validity across age. Additionally, we aimed to propose new cutoff values specific to age subgroups. METHODS: The study included 1,326 children (autism spectrum disorder [ASD], n=822, M=41.79, SD=10.28; non-ASD, n=504, M=32.48, SD=10.88) divided by age (10-17, 18-29, 30-41, 42-53, and 54-60 months) who completed the instruments and underwent clinical best-estimate diagnostic evaluation. An optimal screening strategy was sought by calculating sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) based on instrument combinations. Receiver operating characteristic (ROC) analysis was conducted to determine the optimal novel cutoff values for the instruments in each age subgroup. RESULTS: The validity of individual instruments varied significantly across age subgroups. However, there was some improvement in validity when applying « either K-SCQ or K-SRS-2, » especially in children aged 30 months and older (sensitivity, 83.3%-94.9%; specificity, 58.1%-90.9%; PPV, 21.7%-98.5%; NPV, 65.3%-96.2%). Estimated cutoff for K-SCQ were 13.5, 9.5, 10.5, 7.5, and 9.5 for ages 10-17, 18-29, 30-41, 42-53, and 54-60 months respectively (sensitivity, 82.4%-92.2%; specificity, 74.8%-90.9%). Estimated cutoffs for K-SRS-2 were 58.5, 54.5, 55.5, 55.5, and 52.5 for ages 10-17, 18-29, 30-41, 42-53, and 54-60 months, respectively (sensitivity, 50.0%-94.1%; specificity, 80.3%-97.7%). CONCLUSION: In children aged 30 to 60 months, the combination of either K-SCQ or K-SRS-2 allowed for accurate screening of ASD. To further improve accuracy, adjusted cutoff values can be applied based on age subgroups.
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9. Li J, Jia X, Chen X, Li G, Ouyang G. LSTA-CNN: A Lightweight Spatiotemporal Attention-Based Convolutional Neural Network for ASD Diagnosis Using EEG. IEEE Trans Neural Syst Rehabil Eng. 2025; 33: 2456-65.
Electroencephalography (EEG) is an effective assessment tool to identify autism spectrum disorders with low cost, and deep learning has been applied in EEG analysis for extracting meaningful features in recent years. However, as a kind of neural electrophysiological signal, EEG contains different types of temporal and spatial information. Therefore, we propose a lightweight spatio-temporal attention-based convolutional neural network (LSTA-CNN) for ASD diagnosis based on EEG recordings. It utilizes multi-scale temporal and spatial convolution layers to simultaneously learn diverse representations from the time and spatial domain. Meanwhile, we introduce a new spatio-temporal attention mechanism, which can jointly integrate features from the temporal domain and spatial domain, enabling our model to extract EEG features effectively. We performed extensive experiments on our self-collected EEG recordings of 41 autistic children and 32 normal control children. Compared with some representative deep learning models, e.g., Shallow ConvNet, EEGNet, etc., our proposed LSTA-CNN achieves the best classification performance on our self-collected EEG dataset. In addition, our model has significantly fewer numbers of parameters and requires less inference time, which indicates it is lightweight and has great potential in practical applications.
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10. Li Q, Chen J, Zhao W, Zhang R, Kendrick KM. Language Subtypes in Young Autistic Children and the Influence of Parental Education, Educational Environment and Diet. J Autism Dev Disord. 2025.
The challenges associated with language development in individuals with autism spectrum disorder (ASD) are well-documented and widely recognized. The current study aimed to identify subtypes of language development in children with ASD and to examine how environmental factors, such as parental education, home educational environment and diet affect the severity of their language difficulties. Of the 110 Chinese children aged 3-6 years participated in the study, 80 children diagnosed with ASD and 30 typically developing (TD) children matched for age and gender. Language abilities were assessed using a vocabulary test and the Gesell language subscale. Data-driven, two-step clustering was used to identify ASD language subtypes. Additionally, information about the parents’ years of education and the number of adult and children’s books in the household collected. Questionnaires regarding the children’s dietary ‘pickiness’ were also completed. The data-driven clustering analysis revealed an optimum of two language subtypes in ASD individuals with different symptom severity and social subtypes. The lower language ability group had parents with shorter education duration (ps < 0.01) and fewer books for children (ps < 0.05) compared with the higher ability and TD groups. In the ASD groups there was a positive correlation between parental education duration, number of household books and language ability, but not for dietary "pickiness" as a measure of diet quality. Overall, we have identified two ASD language subgroups with different symptom severity and shown parental education and educational environment may contribute to difficulties in language development.
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11. Lim T, Cheng A, Bern E, Aw M, Augustyn M. Challenging Case January 2025: An Autistic Youth With ARFID During the COVID Pandemic. J Dev Behav Pediatr. 2025.
Andrew is a 12-year-old boy living in Southeast Asia with autism spectrum disorder (minimally verbal), who first presented with new symptoms of low mood and anhedonia during the COVID pandemic. This was associated with loss of appetite, which culminated in him eventually refusing to eat any food or swallow any liquids (including saliva). He would hold his saliva in his mouth in the daytime and refused to swallow. He would spit out the saliva when instructed to do so. Because of his worries about swallowing his saliva involuntarily during sleep, he also experienced insomnia. If he managed to fall asleep, he would involuntarily swallow his saliva.Three months from his initial symptoms, he was relocated by his family, to another southeast Asian country for specialty care. At this time, he also refused to speak. He went from intermittently accepting some foods, to being completely averse to any food or fluid intake. He was diagnosed with avoidant restrictive food intake disorder. Because of his acute refusal to eat or drink, a nasogastric tube was inserted and subsequently a gastrostomy tube for enteral nutrition. With this intervention, he was able to maintain good weight and nutrition.Simultaneously, he began treatment in a multidisciplinary feeding and nutrition program. Genetic testing done for concerns of neurological regression yielded a variant of unknown significance. He also began an anti-depressant and sleep medication.During this period, he returned to his country of origin and was no longer able to receive direct in-person specialty feeding support, but did have a dedicated caregiver. He was seen once every few months either in-person or by telehealth by the multidisciplinary feeding and nutrition clinic in the second country. His caregiver was taught to implement behavior strategies with a goal of him resuming oral food intake eventually.What factors should be considered when evaluating a child with co-existing neurodevelopmental and psychiatric conditions, who completely stops eating or drinking in the midst of a global pandemic? What feeding approach would be helpful in managing a complex case like this? What feeding interventions can be actualized at home to reintroduce solids? How did the pandemic impact access to services?
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12. Montenegro MC, Garrido G, Feize L, Talavera-Garza L, Villalobos BT, Montiel-Nava C. « There is nothing »-Exploring diagnostic and service access for autistic individuals in Uruguay: A qualitative study. Autism. 2025: 13623613251345334.
Due to the higher autism research presence of higher-income countries, the known social and cultural experiences of families raising a child with autism are centered on their realities. This narrative overlooks the experiences of many families who do not fit this archetype, such as those residing in low- and middle-income countries, who are particularly challenged by the limited availability of trained professionals and barriers to accessing diagnosis and evidence-based treatments. That is the case in Latin American countries, such as Uruguay, where the present project transpires. By utilizing a Theory of Change framework, specifically developed to be used in low- and middle-income countries, the present study explores diagnostic and service barriers in Uruguay. The study included semi-structured interviews with caregivers of autistic individuals and key informants residing in Uruguay. Participants were selected using a purposive sample technique. Data analysis consisted of reflexive thematic analysis. Salient themes consisted of multiple barriers to diagnostic and service access due to a multistep process, limited awareness of autism characteristics, a hesitancy to provide a diagnosis, and few professionals who specialize in autism. For those residing outside the capital, additional difficulties were experienced.Lay AbstractCountries with higher monetary means to conduct research are able to have not only better knowledge of the realities of autistic individuals and their families but also better access to diagnostic and intervention services. In countries with lower income, there is limited understanding of autistic experiences and also issues with access to services due to multiple reasons, like services only being accessible in certain regions, few trained professionals, and long waitlists. This study seeks to understand possible diagnostic and service barriers experienced by autistic individuals residing in Uruguay. To understand the local realities, parents and specialists working with autistic individuals were interviewed, and the information gathered was analyzed by finding patterns that were used to form themes that included the shared experiences among participants. Some of the themes that were identified included reports of difficulties in accessing diagnosis and interventions, either because there were many steps needed to guarantee these services or because there was a limited awareness of autism spectrum disorder and its characteristics by providers, which resulted in a hesitation to diagnose. Also, participants described very few professionals who specialize in autism spectrum disorder. For those residing outside the capital, additional difficulties were experienced.
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13. Priego-González L, Pardo PP, Redegeld F. The role of mast cells in Autism Spectrum Disorder. Neurosci Biobehav Rev. 2025; 176: 106263.
Autism Spectrum Disorder (ASD) comprises a group of neurodevelopmental disorders characterized by alterations in communication, repetitive behaviors and impaired socialization. The precise etiology and pathogenesis remain unclear, and there is currently no effective treatment for this condition. Emerging research highlights the role of immune dysregulation in ASD pathophysiology. Mast cells (MCs) are immune cells traditionally associated with allergic diseases but also play a crucial role in other inflammatory and immune processes. Increased MC activity may be linked to the development of ASD in certain patients. This review explores the potential mechanisms involving MCs in ASD, including neuroinflammation, autoimmunity, and disruptions in the gut-brain axis. Evidence suggests that MC mediators such as histamine, serotonin, and cytokines influence neuroinflammatory pathways that are altered in ASD, and MCs can interact with other immune and neuronal cells contributing to ASD symptoms. Autoimmunity is frequently present in both ASD patients and their mothers, and MCs could originate these processes by modulation of lymphocyte populations or secretion of self-antigens. Finally, MC involvement in gut permeability and microbiota dysbiosis underscores their role in gastrointestinal comorbidities frequent in ASD. Targeting MC activity through pharmacological agents offers promising therapeutic avenues. This comprehensive review sheds light on immune-mediated processes underlying ASD and discusses potential future strategies for intervention.
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14. Superson W, Prokopiak A, Wodziński M. Experiences of an Autism Diagnosis in Adulthood: The Role of Grassroots Epistemology in Clinical Settings. J Clin Med. 2025; 14(12).
Background: Our research problem mainly concerns the following question: what are the consequences of an autism spectrum condition diagnosis for everyday functioning and self-understanding? Method: The research methodology is based on a semi-structured interview, which allows respondents to share their experiences freely while maintaining the structure and standards necessary to collect consistent data. The research was conducted remotely, using the ZOOM platform and the Messenger application. Six individuals with autism spectrum condition (ASC) diagnosed in adulthood, selected intentionally, participated in the study. Interviews lasted between 20 and 60 min. Results: The analysis of the experiences of individuals with ASC diagnosed in adulthood highlights the complexity of the diagnosis process and its far-reaching consequences. The diagnostic process, which varied in time and depended on the availability of specialists, was often evaluated positively. Obtaining an ASC diagnosis proved to be a crucial moment for the interviewees, enabling them to better understand themselves and their needs. It led to a better adjustment of their work, education, and private life environment. Relationships with loved ones tended to remain unchanged or improved, highlighting the importance of the diagnosis in improving the understanding and acceptance of individuals with ASC. Conclusions: The study sheds light on the positive impact of diagnosis on self-awareness and quality of life for individuals with ASC, revealing the need to improve the availability of specialised diagnostic and support services. Further research should focus on the development and adaptation of support methods to meet the individual needs of individuals with ASC and on promoting awareness of ASC in the community and among mental health professionals.
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15. Toolan C, Singer H, Freeman S, Paparella T, Elias R, Tsvetovat M, Lord C. Online coding of the Brief Observation of Social Communication Change (BOSCC) to capture treatment response in minimally verbal children with autism spectrum disorder. Digit Health. 2025; 11: 20552076251347105.
The Brief Observation of Social Communication Change (BOSCC) measures subtle changes in social communication behaviors in children with autism spectrum disorder (ASD). In this brief communication, we examine an online platform that was developed to streamline BOSCC coding and support the development of machine learning-based automatic coding. This study found online coding was comparable to manual coding, capturing social communication changes among children receiving ASD intervention. This advancement offers an efficient alternative to paper-and-pencil coding methods, increasing access and usability of this innovative measure.
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16. Wu K, Tang A, Zhang X, Zhou S, Wu N, Tao J, Chen Y, Yang G, Zhou H, You M. Relationship between PFAS and attention-deficit/hyperactivity disorder or autism spectrum disorder: Epidemiological and experimental evidence. Ecotoxicol Environ Saf. 2025; 302: 118519.
Per- and polyfluoroalkyl substances (PFAS) are widespread environmental contaminants found in various consumer products, such as drinking water, infant formula, and food, as well as in human biospecimens, including blood, urine, breastmilk, and cerebrospinal fluid. Previous evidence indicates that PFAS exposure poses significant neurotoxic risks, owing to their ability to penetrate the blood-brain barrier and bioaccumulate in neural tissue. The developing brains of fetuses and infants are particularly susceptible to the harmful effects of environmental pollutants because of their incomplete barrier and immune system development. This narrative review synthesizes current epidemiological and experimental evidence on the neurodevelopmental effects of PFAS exposure, with a primary focus on attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The available data, from both cross-sectional and prospective cohort surveys, indicate a potential link between PFAS exposure and the development of ADHD or ASD. Additionally, experimental studies demonstrate that PFAS exposure disrupts neurotransmitter regulation, induces oxidative stress and chronic neuroinflammation, and alters gut microbiota, all of which reflect key pathological features observed in both clinical and preclinical models of ADHD and ASD. The present narrative review also discusses current challenges and research directions aimed at elucidating the causal links between PFAS insults and the onset of ADHD or ASD. Notably, this review highlights the need for molecular epidemiological approaches and realistic exposure models in animal research to deepen our understanding of causal associations.
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17. Yuan Q, Xu Y, Wen P. Preschool Inclusion for Children with Autism Spectrum Disorder in China: Parental Participation Intention and Influencing Factors. J Autism Dev Disord. 2025.
Parental involvement and support are crucial to the success of preschool inclusive education for children with autism spectrum disorder (ASD). However, few studies have investigated the role of parents of typically developing (TD) children in this process. The purpose of this study is to identify and assess the key factors that impact and predict their intention to participate in preschool inclusive education. This study conducted a large-scale survey among parents of TD children in Jiangxi, China, and used a structural equation model to validate the influences of attitudes, subjective norms, perceived behavioral control and contact experience on participation intention. The findings revealed a high level of intention among parents of TD children to support preschool inclusive education for children with ASD. The subjective norms were identified to be the strongest predictor of parents’ participation intention, which was not significantly impacted by attitudes or perceived behavioral control. Additionally, demographic analysis showed that parents with prior contact experience with children with ASD were more likely to participate in inclusive education compared to those without such exposure, but the magnitude of the effects was relatively small. These findings underscore the critical roles of social influence and meaningful contact in fostering parent involvement, and provide helpful guidance for educators, policymakers, and social organizations striving to promote inclusive education.
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18. Zhang H, Hua S, Jiao D, Chen D, Gu Q, Bao C. Identification of Therapeutic Targets in Autism Spectrum Disorder through CHD8-Notch Pathway Interaction Analysis. PLoS One. 2025; 20(6): e0325893.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a rising global prevalence. Mutations in the CHD8 gene have been implicated in ASD, yet the underlying molecular mechanisms remain insufficiently understood. METHODS: We analyzed transcriptomic data from the CHD8A and CHD8B allelic deletion sample dataset GSE236993 to identify differentially expressed genes (DEGs). We intersected these DEGs with genes related to the Notch signaling pathway and performed functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, as well as protein-protein interaction (PPI) analyses, to identify key genes. These key genes were validated using the CHD8-deficient sample dataset GSE85417, resulting in the identification of seven common key genes. We then constructed drug-gene interaction networks and microRNA (miRNA) regulatory networks to further elucidate the mechanisms by which CHD8 impacts ASD. RESULTS: Seven hub genes-IGF2, FN1, CXCR4, COL11A1, ITGA6, LOX, and FBN2-were identified, all involved in the Notch signaling pathway and playing significant roles in neurodevelopment and extracellular matrix regulation. Among these, IGF2 and CXCR4 were particularly crucial in ASD pathogenesis, suggesting their potential as diagnostic biomarkers and therapeutic targets. MiRNA regulatory network analysis revealed several miRNAs that may modulate these hub genes, offering new insights into ASD pathogenesis. Drug-gene interaction analysis suggested possible therapeutic small-molecule compounds, such as AMD3100 and IGF-1R inhibitors. CONCLUSIONS: Our multi-level bioinformatics analysis identified key genes and regulatory networks potentially involved in ASD associated with CHD8 deficiency. These findings enhance the understanding of ASD’s molecular mechanisms and highlight potential therapeutic targets, paving the way for future diagnostic and treatment strategies.
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19. Zurita Díaz AJ, Calleja Reina M. The impact of EC+ as a multimodal support in intervention for children with autism spectrum disorder: a technological alternative. Disabil Rehabil Assist Technol. 2025: 1-17.
PURPOSE: This study aims to evaluate the effectiveness of Enhancing Communication Plus (EC+), an augmentative and alternative communication (AAC) technological support system, in improving communication, social interaction, and behavior in children with Level 3 autism spectrum disorder (ASD) and complex communication needs. The intervention combines EC+ with aided augmented input to enhance expressive and receptive communication. METHODS: A quasi-experimental design was conducted over 16 weeks with 18 children aged 6 to 12 diagnosed with Level 3 ASD. Participants engaged in therapy sessions using EC+ within a structured intervention framework. Communication, social skills, and behavioral outcomes were assessed at three evaluation moments using the Vineland-3 scale. Data analysis was performed using SPSS, with statistical tests including repeated-measures ANOVA. RESULTS: Significant improvements were observed across all measured domains. Participants demonstrated enhanced communicative abilities, increased social interaction, and a reduction in disruptive behaviors. The multimodal features of EC+ contributed to engagement and learning, making communication more accessible and intuitive. CONCLUSION: The findings highlight the potential of EC+ as an effective AAC tool for children with Level 3 ASD. Its multimodal features offer a structured and engaging approach that enhances communication, socialization, and behavior. Future research should explore its comparative effectiveness with other AAC supports and ICT-based tools. EC+ is an innovative AAC technological support developed at the University of Málaga, offering multimodal functions for the entire vocabulary, making it highly beneficial for intervention.The integration of EC+ with aided augmented input provides an effective strategy for improving expressive and receptive communication in children with Level 3 ASD and complex communication needs.The multimodal features of EC+ facilitate greater engagement and interaction, supporting the development of social skills in therapeutic settings.By offering structured and intuitive communication support, EC+ helps decrease disruptive behaviors-related behaviors, promoting more adaptive responses. eng.