1. Abdullah A, Liu X, Murari K, Yan J, Cheng N. Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome. Neuroscience. 2025.

Auditory hypersensitivity is a common phenotype in Fragile X Syndrome. Electrophysiology studies at the inferior colliculus of male FMR1-knockout (KO) mice previously demonstrated increased neuronal firing, suggesting that the inferior colliculus is involved in auditory hypersensitivity. Here, we further explored whether the central nucleus of the inferior colliculus (ICc) is involved in auditory hypersensitivity in both female and male KO mice. Tone-evoked in-vivo electrophysiology recordings from ICc neurons of anesthetized (ketamine/xylazine) KO mice at both postnatal day 20 (P20) and 30 (P30) demonstrated increased spikes compared to age- and sex-matched wild-type (WT) mice. Within the KO group, increased spikes were observed in females compared with male mice. Both female and male KO mice also displayed decreased minimum threshold and enhanced response duration at both ages. Additionally, female P30 KO mice displayed weaker inverse relationship between response latency and spike number compared to their WT counterparts. Regarding developmental changes, spike number decreased with maturation in both female and male KO mice. Response duration reduced with age in both sexes of both genotypes, while minimum threshold decreased in the male mice. Finally, we observed an age-related strengthening of the inverse relationship between response latency and magnitude only in the WT mice. Our findings indicate that the ICc display auditory processing deficits particularly in the female KO mice and in young animals highlighting the importance of including female subjects in future studies, and studying early development, which could be an ideal stage for interventions.

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2. Agrawal R, Agrawal R. Early autism detection: a review of emerging technologies, biomarkers, and explainable AI approaches. Mol Brain. 2025.

Autism Spectrum Disorder (ASD) presents as a complicated neurodevelopmental disorder which leads to social communication challenges and repetitive behavioral patterns. Early identification of ASD is crucial to facilitate early intervention that can make a large positive impact on long-term developmental outcomes. With the advent of artificial intelligence (AI) and data-driven diagnoses, there is increased interest in combining machine learning methods with biological and behavioral signatures to detect early ASD. This review provides an overview of broad classes of biomarkers-behavioral, neuroimaging, genetic, and eye gaze-and their respective methodologies, clinical applications, and diagnostic accuracy. For each of these biomarker domains, the research gap has been identified as existing for instance limited interpretability in neuroimaging models, genomics-related ethical and data accessibility issues, and innovation saturation for behavioral measurement. A comparative analysis highlights eye gaze analysis as a promising but under-explored option, providing a balance of cost-effectiveness, non-invasiveness, and potential for real-time, objective measurement. In addition, the application of Explainable AI (XAI) methodologies across these biomarker fields is discussed in order to meet the pressing need for transparency, clinical confidence, and decision-making support. This review makes a final call for further exploration of eye gaze-based models enriched by XAI methods as a future research direction towards filling the gap between algorithmic innovation and real-world, interpretable diagnostics in the context of ASD research.

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3. Al-Ajlouni YA, Lihaz M, Islam M. A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report. J Med Case Rep. 2025; 19(1): 641.

BACKGROUND: Diphthamide biosynthesis 1 is a critical component of the multiprotein complex responsible for diphthamide biosynthesis. Autosomal recessive variants in Diphthamide biosynthesis 1 gene are associated with an ultra-rare neurodevelopmental disorder called developmental delay with short stature, dysmorphic facial features, and sparse hair, also known as Loucks-Innes syndrome. To the best of our knowledge, there have been fewer than 20 reported cases of Loucks-Innes syndrome in the literature. CASE REPORT: We present a 14-year-old Yemeni male patint with novel homozygous variants in diphthamide biosynthesis 1, who presented with a history of congenital hydrocephalus, neonatal seizures, dysmorphic face, and sparse hair. The patient also had aortic root dilation, intellectual disability, short stature, hypoplastic toenails, and mixed conductive and sensorineural hearing loss in both ears. He was only able to move around by crawling and was confined to a wheelchair. CONCLUSION: This case report adds to the limited knowledge on developmental delay with short stature, dysmorphic facial features, and sparse hair and highlights the importance of genetic workup in patients with intellectual disability, short stature, and craniofacial and ectodermal anomalies. Further research is needed to better understand the pathogenesis and clinical features of this rare syndrome.

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4. Alatrash S, Paul T, Andrade BF, Monga S, Brian J, Anagnostou E, Penner M, Fekr AR, Kushki A. Irritability in autism examined through network analysis of phenotypic and physiological correlates. Sci Rep. 2025; 15(1): 44553.

Symptoms of irritability are commonly reported in autism, yet correlates of this domain remain poorly understood. While prevalence estimates in the literature vary considerably, they range up to 80%. Irritability can interfere with daily functioning, social relationships, and academic performance. Despite years of research and the availability of approved medications, intervention outcomes for irritability remain highly variable. To advance understanding and inform more targeted, personalized interventions, the present study aimed to clarify the correlates of irritability in autism using network analysis, an analytical tool suited to capture complex associations across interconnected variables. We examined demographic, phenotypic, and physiological factors in a sample of autistic and neurotypical children. Our findings identified strong direct associations between irritability and externalizing behaviors, emotion dysregulation, autism features, and negative affect. Physiological responses, including heart rate reactivity and variability, were indirectly connected to irritability through links with self-regulation abilities and ADHD traits. These results highlight the importance of conceptualizing irritability in autism as part of a broader, interconnected network of influences rather than an isolated symptom. Recognizing these relationships informs potential targets for future intervention studies.

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5. Alsharif N, Al-Nefaie AH, Ahmad S, Farhah NS. Artificial intelligence-driven diagnosis of autism spectrum disorder in children. Front Med (Lausanne). 2025; 12: 1723320.

INTRODUCTION: Autism Spectrum Disorder (ASD) significantly impacts society by highlighting the need for inclusive education, healthcare, and employment systems that support neurodiversity. This challenges societal norms and promotes greater awareness, understanding, and acceptance, encouraging communities to become more inclusive and supportive of individuals with diverse abilities. METHODS: The main novelty is to identify and explore the key factors affecting ASD in Saudi Arabia and Egypt, aiming to improve early diagnosis through Explainable Artificial Intelligence (XAI) techniques, specifically SHapley Additive exPlanations (SHAP), LIME (Local Interpretable Model-agnostic Explanations), and Permutation Feature Importance (PFI). The research primarily employed decision tree (DT) and K-Nearest Neighbors (KNN) models combined with explainable AI (XAI), leading to significant improvements in diagnostic accuracy. The system was applied to a real dataset collected from various locations across Saudi Arabia, which is publicly available on Kaggle. Additionally, another ASD dataset from the Data Science Bank repository, sourced from participants in North Cairo Governorate, Egypt, was used for testing the system. Before analysis, the data was validated by removing outliers, filling missing data, and confirming the relevance of selected features. The study aims to enhance early diagnosis through XAI methods, including SHAP, LIME, and PFI. RESULTS: The results show that KNN, when combined with XAI, achieved a high accuracy of 97% on the Saudi Arabia dataset and 92% on the Egypt dataset. DISCUSSION: This approach has proven to be effective in developing more accurate and straightforward AI models for ASD diagnosis. It demonstrates that integrating advanced AI techniques with practical clinical applications can significantly improve the healthcare system in Saudi Arabia, leading to earlier ASD detection, better-informed treatment plans, and ultimately, an improved quality of life for those affected.

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6. Ding D, Xu H, Du X, Su X, Huang L, Zhang X, Hu Y, Wang Z, Li X, Dai J, Zhu Y. Effects of a nurse-led family education intervention on the daily living skills of children with autism. Front Psychiatry. 2025; 16: 1706047.

BACKGROUND: Patients with autism spectrum disorders have different degrees of daily living skills defects, which can negatively impact their ability to integrate into society. However, the provisioning of nurse-led family education interventions is often not prioritized, and whether family interventions for the parents of children with autism can impact the daily living skills of those children remains poorly understood. OBJECTIVE: To investigate the effects of a nurse-led family education intervention on the daily living skills of children with autism. METHODS: Convenience sampling was used to select children with autism who were hospitalized in the Department of Child Development and Behaviour at a tertiary grade hospital in Zhengzhou, Henan Province, during the period from June 2024 to March 2025. To avoid cross-group contamination, hospitalized patients in the second ward of the Department of Child Developmental Behaviour were used as the intervention group, and hospitalized patients in the first ward of the Department of Child Developmental Behaviour were used as the control group. Researchers collected data before, directly after, and 3 months after the intervention using unified guiding language. RESULTS: Compared with those before the intervention, directly after intervention and those 3 months after the intervention, the Barthel Index (BI) and Instrumental Activities of Daily Living Scale (IADL) scores for the intervention group significantly increased, whereas the ABC score for that group significantly decreased (P < 0.05). Compared with those of the control group, the intervention group had significantly higher BI and IADL scores and significantly lower ABC scores (P < 0.05). CONCLUSIONS: Nurse-led family education interventions can improve the daily living skills of children with autism, improve their behavioural characteristics, and promote their effective integration into social life.

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7. Dunn AWE, Sit TPH, Feord RC, Soltani A, Yuan Y, Turner R, Loureiro I, Eglen SJ, Paulsen O, Mierau SB. Mecp2 deficiency impairs microscale cortical network topology and dynamics in a Rett syndrome mouse model. bioRxiv. 2025.

Rett syndrome is a debilitating neurodevelopmental disorder with cerebral processing impairments caused by MECP2 loss-of-function mutations. Mecp2-deficient mouse models reveal disruptions of microscale cortical circuits. Yet how cellular-scale information processing is altered in Mecp2-deficient microscale functional networks is unknown. We investigated the development of functional connectivity, network topology, and dynamics in microelectrode array (MEA) recordings of primary cortical cultures from Mecp2-deficient and wild-type mice. Mecp2-deficient cortical networks developed more slowly and showed decreased functional connectivity compared to wild-type, leading to smaller network size, density, and strength of connectivity. Altered network topological features in Mecp2-deficient microscale circuits predicted decreased efficiency and information-sharing capacity. This reveals developmental deficits in microscale functional networks, which may in turn underlie the cortical decline and severe cognitive disability in Rett syndrome. These findings also offer circuit-level targets and an in-vitro approach for evaluating new therapeutic products for restoring microscale network function.

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8. Ezedinma U, Burgess S, Jones E, Singh J, Ladhams A, Campbell G, Fjaagesund S, Swierkowski P, Adeyinka AA, Metse AP, Downer T, Oprescu F. Evaluating the effect of repetitive transcranial magnetic stimulation on sleep difficulties in children with autism spectrum disorder: a randomized controlled trial. Sleep Adv. 2025; 6(4): zpaf088.

STUDY OBJECTIVES: Evaluate the effect and safety of alpha rhythm-guided repetitive transcranial magnetic stimulation (α-rTMS) on sleep difficulties in children with autism spectrum disorder (ASD). METHODS: Twenty children (6-12 years old; 16 males; 4 females) with ASD level 2 were randomly assigned (1:1 ratio) to a treatment group (TG) or a waitlist control group (WLCG) (T1). The TG received ten α-rTMS sessions over two weeks, while the WLCG acted as control for that period (T2). Next, the WLCG received α-rTMS for two weeks (T3). All study participants were followed up at one (T4) and four (T5) months. Sleep difficulties were measured using the Children’s Sleep Habit Questionnaire (CSHQ), Actigraphy, and Polysomnography (PSG). RESULTS: Group-by-time interactions indicated that the TG had greater improvements than the WLCG in total CSHQ score (p=.008) and, bedtime resistance (p=.003), sleep onset delay (p=.004), and sleep duration (p=.003) subdomain scores. When the WLCG received the α-rTMS, there were improvements in their sleep-disordered breathing (p=.001), parasomnia (p=.002) and sleep duration (p=.018) subdomain scores, while PSG data showed improved Waking After Sleep Onset (WASO) (p=.014), Sleep efficiency (p=.046), and N2 stage (p=.039). The improved CSHQ scores persisted, with actigraphy data showing significant improvement in WASO at T4 and T5. Side effects of α-rTMS were mild and transient. CONCLUSIONS: This RCT study presents preliminary evidence on the effect and safety of α-rTMS in improving subjective sleep difficulties in children with ASD, with effects lasting up to four months post-intervention. Further studies using a larger sample size and sham-controlled group are warranted. CLINICAL TRIAL REGISTRATION: The trial was registered on July 11, 2023 within the Australian New Zealand Clinical Trials Registry (ANZCTR) https://www.anzctr.org.au/TrialSearch.aspx with registration number: ACTRN12623000757617.

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9. Haskell D, Haury WR, Granato MM, Bastien BL, Hart MP. Insertion of rare autism variants in synaptic genes induce novel behavioral phenotypes in C. elegans. bioRxiv. 2025.

Neurodevelopmental conditions and disorders, including autism, involve a complex interplay of genetic, environmental, and developmental factors. Despite this complexity, genetic studies have identified more than 150 candidate genes that increase risk for autism and related neurodevelopmental and neuropsychiatric conditions. Unsurprisingly, synaptic genes are a large proportion of these genes, likely due to their roles in the formation and maintenance of synaptic architecture, function, and the plasticity of neurons and circuits. The association of synaptic genes with autism and similar conditions is driven by all types of genetic variation, including inherited and de novo rare variants that have unknown impacts on the function of the gene. Here we insert 4 conserved rare variants in the C. elegans orthologs of NLGN4X, NRXN1, and SHANK3, and define their impact on gene function compared to known loss of function variants using behavioral assays. We find that the rare variants impact multiple foraging behaviors, with each gene and variant having a unique pattern of behavioral changes and functional impact. The NLGN4X(A283T) variant induced clear loss of function, while NLGN4X(G84R) induces a loss of function in one behavior, but a gain of function in another behavior. The NRXN1(L18Q) variant induced remarkable loss and gain of functions with distinct impacts across each behavior. The SHANK3(L143P) variant induced partial loss of function in a single behavior. We also identify for the first time that loss of function of shn-1/SHANK3 alters social feeding and food response behaviors. We uncover a remarkably complex impact of rare variants in synaptic genes, with differential impacts across behaviors, highlighting the importance of broad behavioral analysis and the nuanced effects of missense variants compared to loss of function alleles. Together, we define the complex functional impact of each variant on gene function, compare the impact of variants and genes across multiple behaviors, and provide further support for the use of C. elegans to define the impact of genetic variation derived from human neurodevelopmental and neuropsychiatric disorders.

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10. Huang H, Zhu H, Tang H, Jin S, Zhao Y, Zou Y, Peng X, Xu S. Efficacy of the Picture Exchange Communication System for children with autism in Mainland China: A systematic review and meta-analysis of randomized controlled trials. Res Dev Disabil. 2025; 168: 105190.

OBJECTIVE: This systematic review and meta-analysis aimed to investigate the efficacy of the Picture Exchange Communication System (PECS) in improving communication skills and related collateral outcomes among children with autism in Mainland China, and to identify potential moderators. METHODS: Following PRISMA 2020 guidelines, seven databases were searched from inception to July 31, 2025 for randomized controlled trials (RCTs) on PECS for children with autism in Mainland China. Pooled standardized mean differences (SMD) with 95 % confidence intervals (CI) were calculated using random-effects models. Sensitivity and subgroup analyses assessed heterogeneity and robustness. RESULTS: Thirty-seven RCTs were included (34 in meta-analysis; n = 2343). PECS demonstrated a large, significant overall effect (SMD = 0.95, 95 % CI: 0.76, 1.13), with substantial improvement in communication skills (SMD = 0.94, 95 % CI: 0.67, 1.21) and notable collateral benefits for cognitive function (SMD = 2.46), core autistic symptoms (SMD = 1.62), health-related quality of life (SMD = 0.91), social skills (SMD = 0.88), maladaptive behaviors (SMD = 0.83), mental health (SMD = 0.73), and motor skills (SMD = 0.55). No significant effect was found for language development (SMD = 0.44, 95 % CI: – 0.53, 1.41). Interventions delivered by medical professionals in clinical settings demonstrated a significant and large effect (SMD = 0.92, 95 % CI: 0.74, 1.11), whereas the limited number of studies conducted in educational settings by educational professionals produced a larger point estimate but non-significant effects. No statistically significant moderation was detected for study population, economic region, intervention frequency, PECS phase, or study quality (all interaction tests non-significant). CONCLUSION: PECS demonstrates a large and significant effect on communication skills and several collateral outcomes for children with autism in Mainland China, supporting its a promising, effective intervention.

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11. Itami K, Kimoto K, Takahashi Y, Onishi Y, Mikami K, Yamamoto K. Cerebellar pilocytic astrocytoma in a patient with autism spectrum disorder and psychotic symptoms: a case report. BMC Psychiatry. 2025.

BACKGROUND: Psychiatric symptoms, including psychotic manifestations such as hallucinations and delusions, are common in patients with brain tumors, typically associated with tumors in the frontal and temporal lobes. Psychotic symptoms are rarely linked to cerebellar tumors. However, recent evidence suggests that the cerebellum is involved in higher-order functions like cognition, emotional regulation, and social behavior. This report describes the case of a patient with autism spectrum disorder (ASD) who presented with a unique combination of a cerebellar tumor and psychotic symptoms, achieved complete remission of psychotic symptoms without antipsychotic treatment, and was followed up for three years. CASE PRESENTATION: A 16-year-old male with longstanding ASD presented with auditory hallucinations, delusional beliefs, and thought disorder. Since childhood, he displayed features such as poor eye contact, hypersensitivity to sounds, solitary play, restricted interests, and behavioral rigidity. At age 13, he began experiencing fluctuating psychotic symptoms, which were later diagnosed as schizophrenia-like psychotic features alongside his ASD. Brain magnetic resonance imaging (MRI) revealed a 3-cm cerebellar mass, which was identified as a pilocytic astrocytoma upon surgical resection. Notably, the patient’s psychotic symptoms completely resolved after surgery, without the use of antipsychotic medication, and have not recurred during a 3-year follow-up, while his core characteristics of ASD remained unchanged. CONCLUSIONS: This case suggests that cerebellar pathology may contribute to the development of psychotic symptoms, supporting the hypothesis that cerebellar dysfunction can lead to schizophrenia-like features. It also highlights the potential link between cerebellar dysfunction and ASD. Given the slow-growing nature of pilocytic astrocytomas, the case highlights the importance of considering cerebellar pathology in the differential diagnosis of psychosis, with implications for understanding disorders like ASD.

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12. Jung Y, Lombardi J, Heffelfinger R, Inkelis S, Pereira CW, Flagan TM, Hall M, Rabkina L, Miller Z, Sanders S, Sturm VE, Arias JJ, Miller BL, Boxer AL, Ringman JM, Mandelli ML, Tempini MLG, Lee SE. Clinical Manifestations. Alzheimers Dement. 2025; 21 Suppl 3(Suppl 3): e100515.

BACKGROUND: The current conceptualization of genetic frontotemporal dementia (FTD) and Alzheimer’s disease (AD) is that they are neurodegenerative diseases characterized by symptoms that develop late in life. Yet, studies in animal models and humans support the notion that autosomal dominant genes, whose variants cause these diseases, also play critical roles in neurodevelopment. Some studies have identified subtle behavioral, cognitive and neuroanatomical characteristics in asymptomatic adult genetic variant carriers. It remains unknown, however, how early in life these differences emerge and to what extent children and young adults with these variants may exhibit clinical overlap with neurodevelopmental disorders such as autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and language-based learning disabilities (LBLD). METHODS: At the UCSF Dyslexia Center, children and young adults (age range 7 to 25) from families with an autosomal dominant genetic variant for FTD or AD, participants with ASD, ADHD, LBLD, and typically developing children (TDC)/young adult controls, are being recruited for assessment. Our recruitment goals over the five-year period include enrolling 50 participants from families with FTD, 50 participants from families with AD and 30 participants in each neurodevelopmental cohort. Measures collected include a neurological evaluation, neuropsychological testing, academic testing, and MRI brain scan (including T1, diffusion-weighted imaging, resting-state fMRI sequences). For participants from families with autosomal dominant FTD or AD, genetic testing for the variant in the family is performed on saliva specimens. Genetic variant status is not disclosed to participants or their families. RESULTS: To date, we have evaluated 40 participants from families with FTD, seven from families with AD, two with ASD, 15 with ADHD, 33 with LBLD, and 18 TDCs with recruitment ongoing. Planned comparisons will examine the effects of these genetic variants on neuropsychological profiles, academic test scores, brain volume, white matter tract integrity and resting-state functional connectivity networks. CONCLUSION: This study aims to characterize the neurodevelopmental phase of genetic FTD and AD, providing critical insights into their underlying biology and potential phenotypic overlap with neurodevelopmental syndromes.

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13. Li N, Ye H, Zhu H, Liang M, Wang K, Zhao Y, Liu L. Association of prenatal exposure to air pollution with autism spectrum disorder: A population-based retrospective cohort study in China. Environ Res. 2025; 291: 123612.

BACKGROUND & AIMS: Prenatal exposure to ambient air pollution has been associated with increased autism spectrum disorder (ASD) risk, but the role of specific pollutants and critical exposure windows remains uncertain. This study assessed the association between prenatal exposure to six major air pollutants and ASD risk in a large birth cohort in Ningbo, China. METHODS: This retrospective cohort study analyzed 98 081 mother-infant pairs from the Ningbo MATernity-Child LinkEd databaSe (MATCHLESS). Infants born between August 1, 2017, and December 31, 2018, were prospectively followed using electronic health records until a clinical ASD diagnosis was recorded or until December 31, 2024, whichever came first. Daily average exposure levels of PM(2.5), PM(10), ozone (O(3)), nitrogen dioxide (NO(2)), sulfur dioxide (SO(2)), and carbon monoxide (CO) during pregnancy were estimated using an integrated approach combining the China High Air Pollution (CHAP) datasets with air quality monitoring data. Logistic regression models assessed pollutant-specific associations with ASD risk, and distributed lag nonlinear models (DLNM) identified gestational windows of heightened susceptibility. RESULTS: Among the cohort, 494 (0.5 %) children were diagnosed with ASD by age 6. Mid-to-late pregnancy exposure to NO(2), and CO, and late-pregnancy exposure to PM(2.5), and PM(10), were significantly associated with increased ASD risk. Notably, PM(2.5) (late: OR = 1.112), PM(10) (late: OR = 1.110), NO(2) (mid: OR = 1.284; late: OR = 1.138), and CO (mid: OR = 1.284; late: OR = 1.154) were consistently associated with increased ASD risk. DLNM analyses confirmed cumulative exposure associations aligned with logistic regression results. CONCLUSION: Exposure to PM(2.5), PM(10), NO(2), and CO during the mid-to-late pregnancy increased the risk of children being diagnosed with ASD. These results underscore the importance of targeted air quality control policies during pregnancy to reduce ASD risk. TRIAL REGISTRATION NUMBER: NCT06422130.

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14. Muppidi S, Bhamidipati K, Sankar GS, Bongale AM, P RB. Adaptive network based fuzzy inference system efficientnet for autism spectrum disorder detection with optimization based pivotal region extraction. Psychiatry Res Neuroimaging. 2025; 356: 112109.

Autism Spectrum Disorder (ASD) refers to abnormal neural activity that may increase the risk of premature brain development issues. Many traditional treatment methods are available for ASD, but they require continuous assessment and analysis of patient behavior. However, traditional models are time-consuming and often lead to unclear outcomes, significantly impacting patient’s social lives and communication ability. Hence, a novel hybrid approach is developed, namely, Adaptive Network Based Fuzzy Inference System EfficientNet (ANFIS-EffNet), which combines the ability of Adaptive Network Based Fuzzy Inference (ANFIS) and EfficientNet by modifying their layers. At first, the input autism brain image is given to the pre-processing stage, performed using Anisotropic diffusion and Region of Interest (ROI) extraction. Next, functional connectivity-based pivotal region extraction is done by Adam War Strategy Optimization (AWSO), a combination of the Adam optimization algorithm and War Strategy Optimization (WSO) technique. Next, feature extraction is carried out by including Learned Invariant Feature Transform (LIFT) and statistical methods. At last, ANFIS-EffNet is employed to detect autism spectrum disorder. The ANFIS-EffNet model has achieved outstanding performance with an accuracy of 93.219 %, sensitivity of 93.670 % and specificity of 93.840 % respectively.

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15. Norman LJ, Sudre G, Bouyssi-Kobar M, Jiao M, Gligorovic S, Jean J, White T, Shaw P. Cross-Sectional Mega-Analysis of Resting-State Alterations Associated with Autism and Attention-Deficit/Hyperactivity Disorder in Children and Adolescents. Nat Ment Health. 2025; 3(6): 709-23.

Autism Spectrum Disorder (autism) and Attention Deficit/Hyperactivity Disorder (ADHD) often co-occur, although it remains unclear if these conditions share common neurobiological foundations or exhibit distinct alterations in resting-state brain connectivity. We conducted a cross-sectional mega-analytic comparison of functional connectivity patterns linked to autism and ADHD traits in children and adolescents (ages 6-19 years; n=10,168), with follow-up analyses considering autism (n=764 autistic; n=893 neurotypical) and ADHD diagnoses (n=2,026 ADHD; n=2,409 neurotypical). In total, 12,732 unique child and adolescent participants were included: 3,528 in both analyses, 6,640 in the trait analysis only, and 2,564 in the diagnostic analysis only. Autism traits and diagnosis were associated with reduced connectivity between the thalamus, putamen, salience/ventral attention, and frontoparietal networks, while ADHD traits showed the opposite pattern. Hyperconnectivity between the default mode and dorsal attention networks was observed in both autistic and ADHD groups relative to neurotypical individuals and associated with ADHD traits. Despite frequent co-occurrence, autism and ADHD traits exhibit distinct neural signatures, with small effect sizes indicating subtle associations.

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16. Pagán AF, Esparza A, Ramirez A, Ortiz M, Hernandez L, Morgan MB, Noel G, Pagán AL, Salas J, Maurano K, Sattem G, Sydow L, Ahmed N, Loveland KA, Montiel-Nava C, Acierno R. Phase 1 clinical trial of ¡Iniciando! la adultez: a culturally tailored intervention for transitioning Latino young adults with autism. Int J Dev Disabil. 2025.

This Phase 1 clinical trial evaluated ¡Iniciando! la Adultez, a culturally adapted intervention for Latino autistic young adults (n = 56) and their parents (n = 63). Young adults showed significant post-treatment improvements on measures of social responsiveness (SRS-2), adaptive behavior (ABAS-3), executive functioning (BRIEF-A), quality of life (WHOQOL-BREF), transition readiness (TRS-A), coping self-efficacy (CSES), and emotion regulation (DERS-SF). Parents reported significant improvements in their perceptions of their child’s social responsiveness, adaptive behavior, and executive functioning, as well as increased transition readiness ratings. Notably, parents evinced a significant decrease in acculturative stress (RASI) and depressive symptoms (PHQ-9), however, parental baseline anxiety remained unchanged. These preliminary findings suggest ¡Iniciando! is a feasible and potentially effective culturally adapted intervention for this underserved population, warranting further investigation in larger controlled trials.

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17. Pagán AF, Izuno-Garcia AK, Hughes KR, Chapman KS, Loveland KA. Self- and Informant Report in a First-Time Diagnosis of Autism Spectrum Disorder in Adulthood: the Role of Females. Adv Neurodev Disord. 2024; 8(4): 536-46.

OBJECTIVES: The diagnosis of autism spectrum disorder (ASD) in adulthood is a growing area of research and practice as the number of adults seeking a first-time diagnosis has increased. Informants are often utilized to aid in the evaluation of ASD in childhood. Little is known regarding the convergence of self- and informant-report measures of ASD in adults and whether gender differences exist. We explored the convergence of self-report and informant ratings on two commonly used rating scales and a clinician observation measure for the diagnosis of ASD. METHODS: The present study explored the convergence of two commonly used measures (SRS-2 & AQ) and a clinician observation measure for the diagnosis of ASD in adulthood 155 pairs of adults (41.3% female; mean age = 33.19, SD = 11.46) and their informants (total sample, n = 310). RESULTS: Overall, self-report AQ and SRS-2 scores were significantly higher than informants. Gender was the most important predictor of poor convergence on AQ and SRS-2, with informants of females reporting significantly fewer ASD symptoms compared to males with a first-time diagnosis of ASD in adulthood. Informant report also did not significantly predict key functional outcomes (i.e., employment, living situation) over and above self-report alone. The present study also found no significant differences in measures regardless of the informant utilized (e.g., parents, spouses). CONCLUSIONS: Gender is an important factor in the assessment of ASD in adulthood. Thus, practitioners assessing female adults ought to interpret discrepant informant-report results with caution. Researchers ought to continue to examine how ASD measures perform for females and ensure they are normed appropriately with females and males. A wider variety of informants such as a sibling or a friend may be appropriate if a parent or spouse is unavailable.

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18. Pagán AF, Kenemore J, Hernandez L, Armstrong S, Loveland KA, Ahlenius M, Acierno R. Military Launching! to Adulthood: A Cultural Adaptation of a Group Therapy Program for Military-Dependent Young Adults with Autism Spectrum Disorder Transitioning to Adulthood. Adv Neurodev Disord. 2025.

OBJECTIVES: The transition to adulthood poses distinct challenges for young adults with autism spectrum disorder (ASD) (ages 18-25), particularly in establishing and achieving long-term goals. This is further complicated for those within the military and veteran communities. This study aimed to evaluate the feasibility, acceptability, and cultural fit of « Launching! to Adulthood, » a 12-week telehealth intervention, adapted for military-dependent young adults with ASD and their military/veteran parents. METHODS: Building on previous research and incorporating stakeholder feedback, the intervention addressed key transition challenges such as executive functioning, mental health, vocational skills, and social engagement, while also aligning with military cultural values. A total of 20 young adults and 37 parents participated in the program. RESULTS: Feasibility was demonstrated by high attendance rates, with 93% of young adults and 90% of parents attending all group sessions, and no family dropouts. Both young adults and parents reported high satisfaction with session logistics, though some logistical conflicts and a preference for in-person sessions were noted. Acceptability ratings were strong, with most satisfaction scores exceeding 7 out of 10, and both groups reporting significant gains in confidence and skills related to transitioning to adulthood. Cultural fit was confirmed, with 94% of participants finding the program relevant and aligned with military and family values. Preliminary outcomes indicated improvements in self-confidence, independence, social connections, and family relationships. Participants emphasized the program’s effects in addressing the unique needs of the military community. CONCLUSIONS: The findings highlight the importance of culturally tailored interventions in fostering successful transitions for underserved populations, specifically military-dependent young adults with ASD.

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19. Pliska L, Neitzel I, Buschermöhle M, Kunina-Habenicht O, Ritterfeld U. Digital screening of children with ASD: diagnostic accuracy of emotion recognition and visual preference tasks. BMC Psychiatry. 2025.

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20. Ranjan M, Breunig R. Individualized disability support schemes and their impact on autism diagnoses. J Health Econ. 2025; 105: 103100.

This paper examines the impact of individualized funding for disability supports on autism diagnoses. We identify these effects using the staggered roll out of the National Disability Insurance Scheme (NDIS), which provides individualized funding for non-medical disability interventions. We find compelling evidence that the introduction of the NDIS has led to a 32 % increase in reported autism prevalence and accounts for 47 % of new diagnoses since the introduction of the scheme. We find a significant reduction in diagnoses from government subsided healthcare professionals, accompanied by an increase in diagnoses from disability service providers. A lower threshold for autism recognition appears more consistent with our results than catch-up in historically underdiagnosed groups.

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21. Sette C, Urbinati C, Lanzillotta C, Prestia F, Ciafardini L, Cosentino L, Pietraforte D, Quattrini MC, Perluigi M, Di Domenico F, De Filippis B. Systemic administration of the OGT inhibitor OSMI-1 normalizes hippocampal O-GlcNAcylation and improves recognition memory, redox balance, and brain mitochondrial homeostasis in a Rett syndrome mouse model. Free Radic Biol Med. 2025.

Protein O-GlcNAcylation (O-GlcNAc) is a nutrient-responsive posttranslational modification (PTM). Proper regulation of brain O-GlcNAc levels is essential for the coupling between metabolic homeostasis and neuronal function. Abnormal O-GlcNAc levels in the brain are associated with neurodevelopmental and neurodegenerative diseases related to defects in energy metabolism. We investigated the levels and regulation of protein O-GlcNAc modification and related pathways through gene and protein expression analysis in the hippocampus of two well-established murine models of Rett syndrome (RTT), a monogenic neurodevelopmental disorder with metabolic components and a primary cause of severe intellectual disability in females. Increased protein O-GlcNAc levels, due to changes in the molecular machinery that controls O-GlcNAc production, transfer, and removal, were observed in the hippocampus of the two RTT mouse models (MeCP2-BIRD and MeCP2-308 models). Remarkably, systemic administration of the OGT inhibitor OSMI-1 restored O-GlcNAc brain homeostasis and rescued brain mitochondrial defects and redox alterations in the RTT mouse hippocampus. The OSMI-1 treatment also induced a normalization of the cognitive performance of RTT mice in novel object recognition tests and reduced peripheral oxidative stress. These findings provide new evidence of an imbalance in nutrient-sensing O-GlcNAc in the RTT mouse hippocampus, suggesting that restoring brain O-GlcNAc homeostasis might represent a promising therapeutic approach for RTT.

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22. Tay KW, Chin JRH, Lim SP, Tan ZC, Subramaniam P. Dementia Care Research and Psychosocial Factors. Alzheimers Dement. 2025; 21 Suppl 4(Suppl 4): e097017.

BACKGROUND: The prevalence of dementia is increasing globally, significantly impacting caregivers due to the behavioral and psychological symptoms of dementia (BPSD). One of the factors that compound this issue is the lack of reliable diagnostic tools in the past, leading to many undiagnosed neurodevelopmental disorders among the aging population. The overlapping symptoms between autism spectrum disorder (ASD) and dementia often make it challenging to identify undiagnosed ASD in people with dementia (PWD), potentially leading to the misattribution of certain BPSD to dementia alone when they may partly stem from underlying ASD. Emerging evidence highlights a concerning intersection between neurodevelopmental disorders and dementia. For example, a study reported 18.5% of PWD in memory clinics exhibit autism symptoms, and individuals with autism under 65-year-old are 2.6 times more likely to be diagnosed with dementia than the general population. Early-onset dementia also follows the same trend, with a 4.04% occurrence in autistic population compared to 0.97% in the healthy population. METHOD: This review examines current literature. Data will be extracted and analysed through thematic analysis to identify key themes and gaps. RESULT: Historical links between autism and dementia further imply these associations; childhood disintegrative disorder, was once labeled as dementia infantilis. Preliminary studies have revealed significant associations between autism spectrum symptoms and both the severity of BPSD and dementia. Another study also found that severe dementia correlates with increased neurodevelopmental symptoms. These findings suggest that understanding BPSD through the lens of autism may offer new insights into its underlying mechanisms, providing alternative explanations for the behavioral patterns observed among people with dementia. CONCLUSION: This paper hypothesizes that many PWD may have lived with undiagnosed mild autism, coping adequately until neurodegeneration undermines their learned strategies. Managing mild dementia may also involve addressing comorbid autism symptoms, such as RRB and SCI difficulties. Viewing BPSD partly from the perspective of ASD offers a novel approach to understanding and managing these symptoms. This intersection presents a critical area for future research as current dementia assessments often fail to capture the full spectrum of ASD-like behaviors, necessitating adaptations in dementia care to address potential comorbidities.

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23. Wagner VA, Thapa R, Norman AO, Varallo A, Wimberly J, Rais M, Gerasymchuk D, Piepponen TP, Razak KA, Castren ML, Ethell IM. Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome. Neurobiol Dis. 2025: 107233.

Astrocytes control neural communications by influencing GABAergic transmission through uptake and synthesis of GABA. Impaired GABAergic signaling is thought to underlie cortical hyperexcitability in autism. Here we show that dysregulation of astrocyte GABA transport in Fragile X syndrome (FXS), a leading genetic cause of autism, contributes to circuit hyperexcitability. Human FXS astrocytes derived from patient-specific induced pluripotent stem cells and mouse Fmr1 knockout (KO) astrocytes display a significant increase in levels of GABA and GABA-synthesizing enzyme GAD65/67. Our astrocyte-specific Fmr1 KO (cKO) mouse model reveals reduced inhibitory connectivity and impaired cortical responses to sound. Abnormal GABA transport in cortical astrocytes contributes to impaired fidelity of temporal processing and abnormal behaviors in cKO mice. Blocking astrocyte GABA transport enables higher PV expression, improves EEG responses to frequency-modulated sound, and corrects aberrant exploratory behavior. Our findings suggest astrocyte GABA transport plays a key role in regulating cortical inhibition, and contributes to autism-associated phenotypes.

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24. Wallace GL, McQuaid GA, Duane SC, Ahmed N, DeSilva A, Klein CB, Klinger L, Charlton RA, Lee NR. Clinical Manifestations. Alzheimers Dement. 2025; 21 Suppl 3(Suppl 3): e100513.

BACKGROUND: Emerging evidence from healthcare claims data indicates that autistic adults receive dementia-related diagnoses at increased rates compared to the general population. Nevertheless, prospective data, including dementia risk screeners, have rarely been collected to directly evaluate risk for cognitive decline among autistic adults. Given high rates of polypharmacy, autistic adults likely experience high anticholinergic burden, which is linked to dementia risk in the general population. The current study uses screeners to assess risk for cognitive decline, documents anticholinergic burden based on reported medication use, and links cognitive decline and anticholinergic burden in two relatively large samples of autistic adults. METHOD: Sample 1 includes 210 « independent » autistic adults (age range=42-81yrs, M=56yrs; 58% female-assigned-sex-at-birth). Sample 2 includes 500 « dependent » autistic adults (age range=18-68yrs, M=31yrs; 20% female-assigned-sex-at-birth). Both samples were recruited via SPARK, a research participant registry of autistic people and their caregivers (« independent » vs. « dependent » refers to the autistic adults’ ability to independently consent). Cognitive decline was assessed using the self-rated AD8 among independent autistic adults and via the caregiver-rated Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) for « dependent » autistic adults. The CRIDECO Anticholinergic Load Scale/CALS was used to code medications for anticholinergic potency. RESULT: 30% of independent autistic adults endorsed 2 or more symptoms, thus they « screened positive » for cognitive decline on the AD8, and 10% of dependent autistic adults had caregiver ratings indicating 1 or more memory/communication declines specifically (an index of cognitive decline) and 3% « screened positive » using the more conservative 20+ DSQIID cutoff score. Anticholinergic medication use was high in both groups, with >63% of individuals in both samples taking 1 or more anticholinergic medications. Finally, dimensional ratings of cognitive decline were significantly associated with anticholinergic potency in both samples after accounting for the effects of age and assigned-sex-at-birth (independent: B=0.16, R(2)Change=0.02; dependent: B=0.18, R(2)Change=0.03; ps < .01). CONCLUSION: Ratings from dementia screeners dovetail with healthcare claims data by revealing relatively common reports of cognitive decline in autistic adults. Furthermore, among autistic adults, anticholinergic medication use is high, and increased anticholinergic potency is linked to reports of cognitive decline, often at younger ages than in the general population.

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25. Williams DKA, Biswas TK, Brusco C, Molholm S, Coen-Cagli R. A Multimodal Framework for Understanding Perceptual Segmentation of Natural Scenes In Autism. bioRxiv. 2025.

Understanding how individuals segment complex natural scenes into perceptual segments is essential for explaining both typical and atypical sensory processing. In Autism Spectrum Disorder (ASD), differences in visual segmentation and integration are widely documented. However, existing paradigms often rely on simplified stimuli and do not capture the dynamic, naturalistic processes underlying real world scene segmentation. To overcome those limitations, in this work we present a novel, multimodal experimental framework. The framework combines precisely timed, trial-based perceptual measurements with electroencephalography (EEG) to examine how neural activity aligns temporally with segmentation decisions and with eye-tracking to examine visual exploration strategies and attention allocation. Neurotypical (NT) participants and participants with ASD aged 16 years and above viewed natural scenes and textures and indicated whether two cued image regions belonged to the same or different perceptual segments. Responses to multiple pairs of cues enabled the estimation of subjectively perceived segmentation maps and the associated uncertainty. Across NT and ASD populations, we analyzed segmentation maps, reaction time distributions, gaze profiles, and trial-aligned neural responses. Behavioral results revealed slower and more idiosyncratic segmentation patterns in ASD. Eye-tracking analyses also demonstrated distinct gaze patterns suggesting broader exploration of the images during early viewing. EEG analyses demonstrated delayed and more diffuse occipital activation in ASD, accompanied by reduced global field power at several key time windows spanning stimulus presentation. Together, these findings establish a reproducible method for studying the temporal and spatial components of natural scene segmentation and indicate meaningful behavioral and neural distinctions in ASD. This framework provides a methodological bridge between controlled experimental stimuli and real-world perception in both neurotypical and neurodivergent populations.

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26. Zhang J, Wan Y, Liu P, Wang L, Zhang Q. Parenting stress among parents of autistic children: a latent profile analysis. Psychol Health Med. 2025: 1-17.

Long-term care for autistic children tends to expose parents to higher levels of parenting stress, which affects the quality of family life and the child’s development and well-being. The first objective of this study was to identify profiles of parenting stress in parents of autistic children, and the second objective was to explore the influencing factors affecting the profiles. The Parenting Stress Index-Short Form (PSI-SF) was administered to 231 parents. Results indicated significant within-group differences in parenting stress, which could be profiled into three profiles: low-stress, medium-stress, and high-stress. Coping styles, support utilization and autism symptom severity significantly influenced the profiles of parenting stress. This study will provide an effective guide to alleviate parenting stress and facilitate the development and well-being of autistic children.

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