Pubmed du 20/12/25
1. A N, V S. Autism spectrum disorder-level prediction and personalized education planning using TabNet. Autism. 2026; 30(1): 176-86.
Students with autism spectrum disorder have an impact on their social, communication, and behavioral skills. Existing studies primarily focus on autism detection and diagnosis but lack effective approaches for predicting autism spectrum disorder levels and linking them to personalized educational strategies. This research aims to develop an autism-level categorization and a tailored education plan recommendation system for autistic students. The proposed methodology involves collecting a data set with attributes such as verbal ability, social interaction, sensory sensitivity, and attention span for students with autism spectrum disorder. These features are preprocessed and used to train a TabNet model to categorize the autism level. The system recommends a personalized education plan through a web application, based on prediction. This study uniquely integrates autism spectrum disorder-level prediction with education planning, achieving an accuracy of 99.37% and precision of 98.91% using the Autism Spectrum Classification for Education Planning data set. This shows the proposed model effectively categorizes autism levels and provides an education plan recommendation system for autistic students.Lay abstractAutism spectrum disorder (ASD) is a critical neurodevelopmental disorder affecting the social and communication skills of autistic students. People with autism spectrum disorder can have different levels of support needs in daily life; understanding these levels is important for providing a correct educational plan for autistic students. We develop a system that predicts the level of support needed for a student and then recommends a personalized educational plan. The system uses information such as the student’s verbal communication skills, social interaction abilities, sensory sensitivity, and attention span. After predicting the level, the system applies a predefined set of rules to suggest specific teaching methods. These are utilized in matching the abilities and needs of the autistic students to study effectively. We developed an interactive web application that enables parents or teachers to input a student’s details and obtain both the support level and personalized learning suggestions. The outcome indicates that the method combines early and correct autism spectrum disorder-level prediction with practical teaching methods, making education more personalized and effective for autistic students.
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2. Al-Shibly MNR, AlHusseiny AH, Lami F, Jasim SM, Jaber OA, Nayeri ND, Sabet MS, Al-Gburi G. Psychometric Properties of an Arabic Modified Childhood Autism Rating Scale 2 Standard Form. Int J Methods Psychiatr Res. 2025; 34(4): e70047.
OBJECTIVES: In middle- and lower-income countries, the scarcity of psychiatric expertise and IQ testing should be considered when developing and testing assessment tools. This study aims to assess the psychometric properties of a modified Arabic version of the Childhood Autism Rating Scale 2 Standard Form. METHODS: A diagnostic accuracy study, including 286 children, was conducted from December 1, 2023, to August 1, 2024, at Baghdad’s National Centre and Al-Subtain Academy for Autism. Confirmatory factor analysis was utilized for structural validity, standardized alpha and the average inter-item correlation for reliability, and ROC curve analysis for diagnostic accuracy. RESULTS: Good fit was demonstrated for the 1-, 2-, and 3-factor solutions. In all models, ‘activity levels’ had the lowest loadings and higher scores in children with ADHD (p-value = 0.0002). Excellent internal consistency was shown with a standardised alpha of 0.90 (> 0.7) and an average inter-item correlation of 0.394 (> 0.15). At the optimal cut-off (≥ 28.5), the scale had a sensitivity of 82.6%, a specificity of 93.4%, and would increase the child’s odds of having ASD by 12.5. CONCLUSION: The modified scale has good psychometric properties and might be utilised to adjust the psychiatric evaluation of children suspected of having a neurodevelopmental disorder.
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3. Chien YL, Chen C, Hsieh MH, Gau SS. Correlation of auditory network hyperconnectivity with P3a amplitude and set-shifting in individuals with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 143: 111552.
BACKGROUNDS: Individuals with autism spectrum disorder (ASD) exhibit aberrant intrinsic connectivity and altered mismatch negativity responses. Both mismatch negativity and intrinsic connectivity are associated with pre-attentive mechanisms. However, the potential link between mismatch negativity and alterations in intrinsic connectivity in ASD has not been thoroughly explored. This study aimed to investigate the resting-state functional connectivity of the auditory network in ASD and examine its association with mismatch negativity and set-shifting performance. METHODS: This study recruited 75 ASD participants and 50 neurotypical controls (NAC). All participants underwent clinical assessments, mismatch negativity on the oddball paradigm, and resting-state functional MRI. We compared the resting-state brain connectivity of the auditory network between ASD and NAC using independent component analysis. We then examined correlations between this connectivity, mismatch negativity, and executive function measured by the Intra-Extra Dimensional Set Shift task (IED). RESULTS: The ASD group demonstrated resting-state hyperconnectivity between the auditory network and the regions of the posterior cingulate gyrus, left inferior frontal gyrus, right angular gyrus, and right caudate/thalamus. In ASD, the connectivity between the auditory network and the left inferior frontal gyrus was positively correlated with higher P3a amplitude and a greater number of completed stages on the IED task, indicating enhanced cognitive flexibility. CONCLUSION: Findings suggest heightened functional connectivity between the auditory network and various brain regions in ASD. Specifically, connectivity to the left inferior frontal gyrus at rest may predict enhanced attention reorientation and cognitive flexibility in autistic individuals. Further research is warranted to elucidate these relationships.
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4. Damiao J, Damiao G, Polanco J, Lockwood M, Quinn J. Ethnographic Perspectives of Unreliable, Minimal and Non-Speaking Autism Associated With Apraxia. OTJR (Thorofare N J). 2025: 15394492251397894.
Individuals with unreliable, minimal, or non-speaking autism face significant challenges in expressing themselves. Historically, these communication difficulties have been attributed to cognitive deficits, however, emerging research suggests that apraxia, may be a primary barrier to effective communication. This study aims to explore the role of apraxia affecting speech, and how society views and supports communication. This auto-ethnographic study is informed by the lived experiences of three minimally speaking autistic individuals, highlighting the disconnect between cognitive capacity and expressive speech. The analysis resulted in the following themes: (a) apraxia as a global motor impairment and (b) disconnecting apraxia from intellectual function. This research underscores the need for adaptive communication strategies and inclusive policies that recognize intelligence and cognitive capabilities beyond verbal outputs. A shift toward understanding the impact of apraxia on communication within this population will foster more equitable access to education, health care, and social participation. Understanding How Movement Difficulties (Apraxia) Affect Communication in Non-Speaking AutismMany autistic people who speak very little, or whose speech is unreliable, are often misunderstood. In the past, these communication challenges were thought to reflect low intelligence. However, new evidence shows that a motor planning condition called apraxia may be a major reason why speech does not match what a person is capable of thinking or understanding. In this study, three autistic individuals shared their lived experiences through writing. Their stories revealed two key insights: (a) apraxia affects more than just speech—it can influence many kinds of movement and (b) difficulties with speech do not mean a lack of intelligence. These findings call for a shift in how society, educators, and health care providers view and support communication. By recognizing that motor challenges, rather than intellectual limits, often explain reduced speech, we can design better supports, create fairer opportunities in schools and health care, and promote true inclusion for autistic people. eng.
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5. Demirtaş Ş, Besalti M. The role of artificial intelligence interventions to improve eye contact for children with autism spectrum disorder: a systematic review. BMC Psychiatry. 2025.
BACKGROUND: Children with autism spectrum disorder (ASD) often struggle with eye contact during social interactions, a key aspect of effective communication. In recent years, various artificial intelligence (AI)-based interventions have been developed to support children with ASD. This study aims to systematically review the published literature on the AI-based interventions for improving eye contact. METHODS: The review adhered to the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Two researchers searched six databases: Scopus, Web of Science, PubMed, APA PsycInfo, Education Source, and IEEE Xplore, which initially yielded 1663 records. After screening and eligibility assessment, 16 studies met all inclusion criteria. Data were extracted through a narrative synthesis focusing on key variables, including study characteristics (author, year, region, sample, design, setting, and duration), definitions and measurements of eye contact, AI tool, and technological modalities, findings including reported effectiveness, generalization and maintenance outcomes, as well as whether social validity was assessed in each study. Two researchers independently conducted data extraction, quality assessment, and risk-of-bias evaluation using the Joanna Briggs Institute (JBI) checklists and the Single-Case Experimental Design (SCED) scale. RESULTS: Included studies used a variety of AI-based tools. The most frequently used intervention modality was robotic systems, which were used in 12 studies, followed by wearable technologies (two studies), virtual reality (one), and game-based software (one). Preliminary findings suggest that AI technologies are often associated with increases in the frequency and duration of eye contact. Six studies (38%) assessed generalization of treatment effects, generally reporting positive outcomes, while seven studies (44%) assessed social validity. The research mostly utilized quantitative designs, including randomized controlled trials, repeated measure designs, single-subject research designs, and quasi-experimental designs. One qualitative case study and one case report were also identified. Methodological quality ratings ranged from moderate to high across study designs. CONCLUSION: This systematic review revealed that AI-based interventions are developing technology for improving eye contact behavior in children with ASD. Particularly, robotic systems provide promising evidence for improving eye-contact behaviors in children with ASD. However, the current evidence base remains limited due to small sample sizes and variations in the operational definitions of eye contact, measurement methods, and levels of AI sophistication. Data on generalization and social validity were also limited, highlighting the need for larger, methodologically rigorous studies to confirm these findings and assess their broader applicability. CLINICAL TRIAL NUMBER: This study did not involve clinical trials, and as such, there is no clinical trial number to report.
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6. Eser M, Hekimoglu G, Kutlubay B. Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort. Neurogenetics. 2025; 27(1): 2.
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by difficulties in social interactions, communication impairments, repetitive behaviors, and restricted interests. A genetic basis for ASD is now well-established. With the availability of high-throughput microarray and sequencing platforms, major advances have been made in our understanding of genetic risk factors. This study assessed the patient records of 62 children diagnosed with ASD or at risk for ASD. Cytogenetics, molecular karyotyping, and whole-exome sequencing (WES) were conducted for these cases. Three likely pathogenic variants were detected in the genes KMT2C, FOXP2, and MAN1B1, each at a rate of 1.6% of total cases. Additionally, variants of uncertain significance (VUS) were found in 13 genes previously associated with ASD. The frequencies of these VUS in total cases were as follows: DLG3-1.6%, MECP2-1.6%, SETD5-1.6%, GRIN1-1.6%, ASXL3-3%, KMT2D – 5%, AP1G1-3%, SPTBN1-3%, TRIP12-1.6%, HCN1-3%, ZNF292-1.6%, and ACSL4-1.6%. We found gene variants in 35% of cases, a rate consistent with previous reports, emphasizing the importance of comprehensive genetic analysis in diagnosing ASD with unclear etiology. This study offers valuable insights into the genetic landscape of ASD within a small cohort and highlights the need for ongoing monitoring and genetic counseling in conditions that present with ASD-like symptoms.
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7. Huang A, Ye Y, Han X, Zhang Z, Gu J, Ke X. Reconceptualising independence in autistic adulthood: Comparing Chinese parents’ perspectives on autistic adults with and without intellectual disabilities. Autism. 2026; 30(1): 150-62.
Achieving independence in adulthood remains a widely held developmental aspiration. However, prevailing frameworks often equate independence with functional proficiency and physical separation from the family, rarely capturing the lived realities and priorities of autistic individuals and their families. This qualitative study represents the first exploration of how families of autistic adults in mainland China understand, support and engage with the concept of independence. Semi-structured interviews were conducted with 20 parents of autistic adults, including individuals both with and without intellectual disabilities. Through reflexive thematic analysis, four interrelated themes were identified: (1) Doing Independence Versus Being Independent; (2) From Aspirations to Reconceptualisations; (3) Invisible Needs and Misrecognised Competence; and (4) Independence as a Relational Process. These findings challenge reductive definitions of independence as mere task completion or detachment from familial support. Instead, they foreground the emotional, relational and cultural dimensions that shape independence across the lifespan. The study highlights how families actively recalibrate expectations, navigate structural constraints and advocate for contextually attuned support. In doing so, it underscores the need to reconceptualise independence as a dynamic, co-constructed process that honours both the individuality of autistic adults and the ecological contexts within which their lives unfold.Lay AbstractIndependence is often positioned as a hallmark of successful adulthood. This study explored how families in mainland China understand and support independence in autistic adults from the perspective of their parents. We talked with 20 parents of autistic adults, whose children included 11 with and 9 without intellectual disabilities, to learn how they understand and support their children’s independence. Parents described independence not simply as living alone or managing daily tasks without help, but as a process that develops gradually over time, shaped by emotions, relationships and cultural values. Some autistic adults demonstrated strong practical skills but still required support with emotional regulation or unexpected situations. Parents also shared how their hopes evolved, with greater focus placed on happiness and well-being rather than traditional adult milestones. Cultural values, such as family ties and mutual support, played a significant role in shaping these perspectives. The study highlights the need for flexible and respectful support systems that honour individual differences and promote meaningful, self-defined forms of independence for autistic adults.
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8. Jiang Y, Wang T. Patterns of AAC use and communicative functions in minimally verbal autistic children following introduction of AAC tools and caregiver training: A corpus-based analysis. Res Dev Disabil. 2025; 168: 105188.
BACKGROUND: Research on Augmentative and Alternative Communication (AAC) for autistic children often focuses primarily on request-based skills. However, growing evidence highlights the importance of broader functional applications. METHODS: This study employed a corpus-based design to describe patterns of change following the introduction of caregiver-mediated, low-tech aided AAC tools and training aimed at increasing spontaneous communication and functional diversity in preschool and school-aged autistic children. The AAC training was integrated into home routines, where caregivers systematically prompted and reinforced AAC use. Caregiver-child interactions were recorded during three phases: the first, second, and final time points. RESULTS: Results showed that all participants moved from limitations at the first time point (AAC use was minimal or prompt-dependent) to varying levels of spontaneous AAC engagement. Their communication diversified beyond instrumental functions (basic requesting) to include interactional functions (joint attention initiation) and informative functions (environmental commentary). CONCLUSIONS: While increases were observed in communicative autonomy in natural settings, persistent gaps in regulatory and emotional functions suggested limitations in current AAC approaches, indicating a need for personalized strategies targeting higher-level communication skills.
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9. Kotowska-Bąbol M, Konowałek Ł, Szajewska H, Łukasik J. Effect of multispecies probiotics on autism symptoms: protocol for a randomized controlled trial (PROBAUT). Trials. 2025.
INTRODUCTION: Autism spectrum disorder (ASD) affects millions of children worldwide, negatively impacting the daily functioning and quality of life of patients and their families. New therapeutic approaches for ASD are being investigated. Probiotics have shown promise in modulating gut microbiota and ameliorating ASD symptoms. We aim to evaluate the impact of a 12-week multispecies probiotic supplementation on the severity of core autism symptoms in children with ASD. METHODS AND ANALYSIS: This study is a randomized, double-blind, placebo-controlled clinical trial. One hundred and 10 children aged 7 to 15 years diagnosed with ASD will be randomly assigned in a 1:1 ratio to receive either a probiotic mixture or a placebo for 12 weeks. The probiotic mixture contains 5 × 10(9) colony-forming units per dose of Bacillus subtilis W20, Bifidobacterium infantis W17, Bifidobacterium lactis W51, Lactobacillus acidophilus W37, Levilactobacillus brevis W63, Lacticaseibacillus rhamnosus W140, Lactococcus lactis W19, and Propionibacterium freudenreichii W200. The primary outcome will be the assessment of core autism symptoms using the Autism Symptom Rating Scales (ASRS). The secondary outcomes will include the quality of life, evaluations of sleep impairments, parental stress levels, gastrointestinal symptoms, and urinary p-cresol levels. These outcomes will be assessed twice: at baseline and after 12 weeks of intervention. ETHICS AND DISSEMINATION: The study has received approval from the Ethics Committee of the Medical University of Warsaw. Results will be submitted to a peer-reviewed journal and presented at national and international scientific meetings. TRIAL REGISTRATION: NCT06448767. Registered on 3 June 2024 Protocol version Version 2, 27 of October 2025.
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10. Li J, Sujawal M, Bernotaite Z, Cunnings I, Liu F. Listening in a noisy world: The impact of acoustic cues and background music on speech perception in autism. Autism. 2026; 30(1): 134-49.
Recognising speech in noise involves focusing on a target speaker while filtering out competing voices and sounds. Acoustic cues, such as vocal characteristics and spatial location, help differentiate between speakers. However, autistic individuals may process these cues differently, making it more challenging for them to perceive speech in such conditions. This study investigated how autistic individuals use acoustic cues to follow a target speaker and whether background music increases processing demands. Thirty-six autistic and 36 non-autistic participants, recruited in the United Kingdom, identified information from a target speaker while ignoring a competing speaker and background music. The competing speaker’s gender and location either matched or differed from the target. The autistic group exhibited lower mean accuracy across cue conditions, indicating general challenges in recognising speech in noise. Trial-level analyses revealed that while both groups showed accuracy improvements over time without acoustic cues, the autistic group demonstrated smaller gains, suggesting greater difficulty in tracking the target speaker without distinct acoustic features. Background music did not disproportionately affect autistic participants but had a greater impact on those with stronger local processing tendencies. Using a naturalistic paradigm mimicking real-life scenarios, this study provides insights into speech-in-noise processing in autism, informing strategies to support speech perception in complex environments.Lay abstractThis study examined how autistic and non-autistic adults understand speech when other voices or music were playing in the background. Participants focused on one main speaker while another voice played simultaneously. Sometimes, the second voice differed from the main one in gender or where the sound was coming from. These differences made it easier to tell the voices apart and understand what the main speaker was saying. Both autistic and non-autistic participants did better when these differences were present. But autistic individuals struggled more when the two voices were the same gender and came from the same location. Background music also made it harder to understand speech for everyone, but it especially affected autistic participants who tended to focus more on small details. These findings help us understand how autistic individuals process speech in noisy environments and could lead to better ways to support communication.
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11. Li W, Zhang X, Niu X, Qin N, Kang L, Wang K, Wang M. Dopamine disruption and autism phenotypes in slc6a3-/- zebrafish: Behavioural and molecular insights. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 143: 111528.
Dopamine plays a crucial role in regulating movement, motivation, attention, and emotions. Disruptions in dopamine metabolism have been linked to various psychiatric disorders, including autism spectrum disorder (ASD). In this study, we generated an slc6a3 knockout zebrafish model using the CRISPR-Cas9 system to investigate the relationship between dopamine dysfunction and autism. Our results revealed that slc6a3 knockout significantly reduced dopamine levels, leading to impaired dopamine synthesis, transport, and metabolism. Behavioural analysis demonstrated that slc6a3-/- zebrafish exhibited decreased motor activity, increased anxiety-like behaviour, and autism-related symptoms, such as impaired social ability and « digging » behaviour. Pharmacological intervention with risperidone and clozapine improved motor function, social interaction, and anxiety levels, with risperidone showing superior effects. Transcriptomic analysis identified significant changes in several nervous system-related genes in slc6a3-/- zebrafish, suggesting that these gene alterations may contribute to the observed behavioural abnormalities. Our study highlights the crucial role of dopamine dysfunction in autism and establishes slc6a3-/- zebrafish as a valuable model for studying autism and screening potential therapeutic drugs.
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12. Muris P, Donkers F, Deckers A, Aarts F, Arpots R, Dewulf W, Janssen I. Autism and Hikikomori Risk: A Link Beyond Other Psychopathologies, and Their Relationship to Loneliness and Solitude. J Autism Dev Disord. 2025.
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13. Pérez-Guzmán N, Pecci-Lloret MP, Rodríguez-Lozano FJ. Quality, usefulness, reliability, and accuracy of YouTube™ information on dental visits for children with autism: a cross-sectional study. Clin Oral Investig. 2025; 30(1): 18.
OBJECTIVES: The aim of this study was to analyze the content of YouTube™ videos related to dental visits for children with autism spectrum disorder (ASD), as well as to evaluate their quality, usefulness, reliability, and accuracy in supporting preparation for the first visit to the dentist. MATERIAL AND METHOD: A total of 93 videos were analyzed between April 24(th) to 4(th) May 2025. Two evaluators assessed each video using the Global Quality Scale (GQS), modicied DISCERN (mDISCERN) and a Veracity Classification. Discrepancies were resolved by a third reviewer. Recorded variables included: video type, language, country, duration, views, likes, comments, source, category, and the interaction index. As well as quality, usefulness, reliability, and accuracy classifications. Benjamini-Hochberg False Discovery Rate (FDR) method to adjust multiple comparisons. RESULTS: Videos created by health professionals showed significantly higher mean GQS scores (3.9 ± 0.6) compared with those based on personal experiences (2.8 ± 0.7), with a mean difference of 1.1 points (95% CI: 0.8-1.4; p < 0.001). Webinars were rated as the most useful by dental professionals, while families valued personal experiences more highly. Tips-oriented videos were consistently considered useful by both groups. CONCLUSIONS: YouTube™ serves as a valuable, freely accessible repository of information to help families prepare children with ASD for dental visits. CLINICAL RELEVANCE: Promoting high-quality, accurate, and reliable online content can support better preparation for first dental visits of children with ASD. Dental professionals should recommend trustworthy videos and participate in the creation of evidence-based educational materials.
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14. Su Y, Li G, Wang S, Hao D, Li CS, Ye-Lin Y, Wang X, Zhang R, Yang L, Li CR. Gray matter volumes of the superior temporal gyrus link preterm birth and developmentally disordered eye gazing patterns in toddlers at eighteen months. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 143: 111560.
BACKGROUND: Preterm birth involves structural brain changes and increases the risk of neurodevelopmental disorders, including social cognitive dysfunction as implicated in autism spectrum disorder (ASD). However, it remains unclear whether or how volumetric brain changes may impact the risk of social cognitive dysfunction in toddlers of preterm birth. METHODS: We curated data of 569 toddlers approximately 18 months of age, including 76 with preterm (PB) and 493 with term (TB) birth, from the developing Human Connectome Project. We processed the imaging data, collected at birth, and investigated group differences in gray matter volume (GMV) of the brain and eye-tracking data collected at 18 months as well as the interrelationships amongst birth age, GMVs, and eye-tracking markers of ASD. RESULTS: In a covariance analysis with age at scan, total intracranial volume, sex, and number of embryos at gestation as covariates, PB demonstrated higher GMV in bilateral superior temporal gyri (STG). Right STG GMV’s were negatively correlated with birth age and positively with the proportion of looking at faces and mouths in PB, but not in TB. Further, path analyses suggested right STG GMV at birth as a marker of preferential face and mouth viewing in PB at 18 months. CONCLUSIONS: The findings associate earlier birth age with atypical volumetrics of the right STG and eye gazing patterns in preterm children at 18 months. Longitudinal studies are needed to examine whether these neural and behavioral markers may reflect risks of social cognitive dysfunction in children with neurodevelopmental disorders, including ASD.
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15. Sun C, Ding S, Qin B, Zhang Y, Qin W, Liu J, Huang K, Ma R, Tong Y, Wang L, Cai J. Alterations of static and dynamic brain functional network connectivity in preschool children with autism spectrum disorder. J Psychiatr Res. 2025; 194: 1-10.
OBJECTIVE: To investigate alterations in both static and dynamic brain functional network connectivity (FNC) in preschool children with autism spectrum disorder (ASD) and their correlation with clinical symptoms, thereby providing neuroimaging evidence for understanding the potential pathogenesis of ASD. METHODS: Clinical and resting-state functional magnetic resonance imaging (rs-fMRI) data were collected from 47 preschool children with ASD and 56 matched typically developing children (TDC). Independent component analysis (ICA) and dynamic FNC analysis were employed to compare differences in static FNC and dynamic FNC metrics between the groups. Correlations between altered FNC measures and clinical scale scores were specifically examined within the ASD group. RESULTS: In the static FNC analysis, the ASD group showed decreased connectivity between the left frontoparietal network (lFPN) and the sensorimotor network (SMN), lateral visual network (lVN), and auditory network (AN) respectively. Connectivity was also reduced between the lVN and the posterior default mode network (pDMN), and between the right frontoparietal network (rFPN) and the posterior visual network (pVN). Conversely, the ASD group showed increased connectivity between the rFPN and both the pDMN and the dorsal attention network (DAN). Scores for repetitive behaviors and restricted interests in the Autism Diagnostic Observation Schedule (ADOS) were positively correlated with the strength of the rFPN-pDMN and rFPN-DAN connections. In the dynamic FNC analysis, the ASD group showed increased functional connectivity variability within the pVN and AN, and decreased variability within the lVN and lFPN. Furthermore, the fraction time spent in state 5 was positively correlated with the communication score in the ADOS. CONCLUSION: The brain functional networks of preschool ASD children exhibit a dual characteristic pattern: static dysconnectivity and dynamic rigidity. These alterations may be closely related to the core symptoms of ASD in this age group, including social communication impairments, repetitive behaviors, and restricted interests.
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16. Urban S, Roeyers H, Peters L, Warreyn P. What Do We Know About the Home Literacy and Numeracy Environments of Autistic Preschoolers? A Systematic Review. J Autism Dev Disord. 2025.
PURPOSE: Academic achievement in autistic children is highly variable: some experience significant difficulties, others perform on par with their peers. While the preschool home learning environment (HLE) supports academic development in neurotypical children, it remains unclear what this environment looks like for autistic preschoolers, how it differs from their peers, and how it relates to child characteristics and academic skills. METHODS: This systematic review searched Web of Science, PubMed, ERIC and Scopus, following PRISMA guidelines. It provides a comprehensive overview of 43 studies on the HLE of autistic preschoolers, exploring differences with peers, associations with child characteristics and academic skills, and outcomes of HLE-focused interventions. RESULTS: Overall, parents of autistic preschoolers reported engaging in a range of learning activities, having many books available and holding positive beliefs about the HLE. While some differences with peers emerged, these often disappeared once children’s language skills were taken into account. Child characteristics appeared to influence the HLE. However, evidence on associations between the HLE and academic skills was limited and mixed. Notably, only one study examined home numeracy, and no studies investigated the longitudinal impact of the preschool HLE on academic outcomes. Intervention studies showed promising effects on parent and child behaviours, though long-term effectivity and methodological rigour remain concerns. CONCLUSION: Autistic preschoolers generally experience rich HLEs, with limited differences from peers. Future research should clarify how the HLE influences learning development in the short and long term, consider the role of child characteristics, and address the notable gap in home numeracy research.
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17. Varia J, Herbert M, Hooker B. The Neuroimmunology of Autism. Mol Neurobiol. 2025; 63(1): 316.
Alterations and maladaptations of the immune system remain some of the most controversial concepts in autism spectrum disorder (ASD). Nonetheless, intensifying evidence confirms that much of what ASD involves is related not to a static encephalopathy-based model of autism but rather to the consequences of environmental insult and complex and dynamic psychological and physiological processes involving the interdependence of the nervous, immune, and host microbiome. This narrative review provides a conceptual framework, focuses on clinical research, and is written for specialists and non-specialists. To provide access to multi- and interdisciplinary perspectives with wide-ranging cutting-edge implications for all people with ASD. Beginning with historical, epidemiological, and etiological underpinnings, we elaborate on a contemporary understanding of the immune system in the pathophysiology of ASD. Theoretical and scientific discourse on the relationship of the immune system with the nervous system and host microbiota in homeostasis/allostasis, neurodevelopment, and psychological and physiological health and disease is also provided. As a basis for conceptual advances detailing the interconnection, interdependence, and interference with or subjugation (as would be the case for autoinflammatory and autoimmune conditions) of the nervous system and host microbiota by the immune system, and the role of these interactions in the pathogenesis of ASD. This gives us a platform for not only examining the role of the immune system in the etiology, pathogenesis, and pathophysiology of ASD but also understanding social and higher-level processes of consciousness for individuals on the spectrum. Finally, taking a neuroimmunological perspective, we highlight the need for a multi-scale, holistic approach to understanding and developing future therapeutic modalities to address the core symptoms of ASD that go beyond the current reductionist and « magic-bullet » medical paradigm.
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18. Wei Y, Liu K, Mi C, Yu J, Sun R, Miao S, Li H, Xue H, Liu X, Hu Y, Qi Y, Zhang J, Tong L, Zhao C, Jiang L, Teng J, Geng X, Gai C, Xu H, Li L, Che F, Gao C, Zhao X. Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy. Genet Med. 2025: 101668.
PURPOSE: Approximately 6% of individuals with neurodevelopmental disorders are predicted to be X-linked, and the GSPT2 gene, located at Xp11.22, has not yet been associated with any Mendelian disease. METHODS: To establish genotype-phenotype associations between GSPT2 and neurodevelopmental disorders (NDDs), clinical investigations were performed in unrelated individuals, genomic and functional studies were conducted on the participants’ blood and heterologous cell system. RESULTS: We described six individuals from six unrelated families carrying hemizygous variants in GSPT2 with ID, DSD, ASD, epilepsy or abnormal fetal neurodevelopment. Structural molecular modelling revealed significant deleterious effects of the identified variants. GSPT2 is preferentially enriched in the brain and cerebellum compared to other tissues. GSPT2-deficient H4 neuroglioma cells slow down the proliferation and downregulate the expression of cell cycle related genes. Transcriptomics revealed that GABAergic and calcium signalling related genes were significantly downregulated in GSPT2-deficient cells. Consistent with the transcriptomic data, RT-PCR analysis verified the marked downregulation of critical genes (CACNA1B, etc.) in GSPT2-knockout cells and further confirmed these findings with proteomic profiling. CONCLUSION: Our data suggest a putative GSPT2-related X-linked NDDs through dysregulation of cell cycle progression and calcium/GABAergic signaling pathways.
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19. Widiastuti AA, Aditya RS, Hapsari AD, Dewantoro DA, Dewi EMP. Bridging gaps in early autism detection: A global perspective on AI-enhanced M-CHAT-R screening. Psychiatry Res. 2025; 356: 116893.
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20. Zhou X, Xu D, Shang F. Mediation Mendelian Randomization Analysis of the Effect of Immune Cells on Autism Spectrum Disorder Mediated by Inflammatory Factors. Neuro Endocrinol Lett. 2025; 46(6): 315-22.
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that impairs communication. Increasing research indicates that maternal immune activation (MIA) is one of the most important environmental factors that increase the risk of autism spectrum disorder (ASD) in offspring. Maternal immune activation produces elevated cytokine levels that cross the placental barrier and disrupt fetal neurodevelopment, increasing ASD risk. However, the specific causal pathways and mediating mechanisms remain unclear, limiting our understanding. METHODS: This mediation Mendelian randomization study examined causal pathways linking immune cell traits (exposures) and inflammatory factors (mediators) to ASD risk.The research merged immune data (731 phenotypes + 48 cytokines) and ASD data from a cohort comprising 18,382 cases and 27,969 controls. Various MR approaches were used to reduce potential biases, along with thorough descriptions of statistical procedures and instrumental variable selection. RESULTS: The study’s findings propose potential causal relationships among cytokines representing inflammatory factors, immune cells, and ASD through mediation Mendelian randomization. Reverse MR was then employed to investigate the possibility of reverse causality. CD8+ T cell %leukocyte (OR = 1.099, 95% CI: 1.039-1.163, p = 0.001), CCR2+ CD62L+ myeloid dendritic cells (OR = 0.933, p = 0.029), and CD45+ immature myeloid-derived suppressor cells (OR = 1.056, p = 0.001) showed evidence of causal association with ASD risk.Furthermore, reduced Artemin levels and elevated FLT3L and 2B4 levels were significantly linked to ASD risk, indicating that abnormalities in immunomodulatory factors may play a crucial role in the pathogenesis of ASD. Additionally, ASD occurrence may result in alterations in Natural Killer cell receptor 2B4 levels. CONCLUSION: This mediation Mendelian randomization study provides evidence that immune dysfunction is associated with ASD pathophysiology through inflammatory mediators, requiring functional validation before clinical application.Cytokines act as mediators in the pathogenesis of ASD, providing a theoretical basis for understanding its immunoinflammatory pathogenesis and offering insight into treatment.