1. Ashraf A, Zhao Q, Bangyal WH, Raza M, Iqbal M. Female autism categorization using CNN based NeuroNet57 and ant colony optimization. Comput Biol Med;2025 (Mar 7);189:109926.

Autism identification and classification using biomedical medical image analysis has advanced recently. Research shows autistic females have different phenotypic and age-related brain variations than males. Gender-specific hormones and genes affect autistic female brain circuitry, unfortunately, female phenotypic and genotypic data is quite deficient. Since physicians spend much time in assessing autistic females manually. Advanced large-scale deep learning algorithms are in dire need of accurate medical diagnosis. This research proposed a 57-layer CNN architecture called NeuroNet57 that can extract features from fMRI factually. After pre-training on the Brain Tumour dataset, the NeuroNet57 model extracts female phenotypic features from autism brain imagining data exchange (ABIDE)-I+II datasets using T1 modality fMRI scans, resulting in feature matrices of 14372 × 4096 for ABIDE_I and 16168 × 4096 for ABIDE_II. Our model uses ant colony optimization (ACO) to select feature subsets for dimensionality reduction. Further, nine machine learning classifiers are used to categorize females with autism spectrum disorder (ASD) from females with control behavior. The KNN-based fineKNN (FKNN) classifier had 92.21% accuracy on ABIDE-I and 93.49% on ABIDE-II. This proves the effectiveness of our proposed model.

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2. Cartwright L, Scerif G, Oliver C, Beggs A, Stockton J, Wilde L, Crawford H. Genetic determinants of longitudinal behavioural trajectories in rare conditions: the case of fragile X syndrome. Behav Brain Res;2025 (Mar 5):115527.

Despite being a monogenic condition, individual variability in the phenotypic profile of fragile X syndrome (FXS) is substantial, with behavioural outcomes differing in severity and frequency. Existing studies have revealed that common variation in 5-HTTLPR (serotonin) and COMT (dopamine) single nucleotide polymorphisms (SNPs) is associated with behavioural variation in FXS when measured cross-sectionally. However, the associations between SNPs and longitudinal behavioural trajectories in FXS remain unknown. This study explored relationships between three SNPs, selected a priori (5-HTTLPR, COMT and monoamine oxidase A (MAOA)), and trajectories of clinically relevant behaviours in 42 males with FXS. Autistic characteristics, property destruction, aggression, stereotyped behaviour, self-injury, repetitive behaviour, and mood/interest and pleasure were measured at two time points across three years via a series of standardised informant questionnaires. DNA was extracted from saliva samples and a combination of PCR and TaqMan genotyping was performed for genetic confirmation of FXS, and COMT, 5-HTTLPR and MAOA analyses. Results revealed that males with FXS with AA COMT genotype were less likely to display persistent stereotyped behaviour compared to AG or GG genotypes. Participants with the S/S 5-HTTLPR genotype displayed a steeper decline in repetitive and stereotyped behaviours compared to the L/S or L/L genotypes. Participants with the three-repeat MAOA genotype demonstrated a steeper decline in communication skills over three years compared to those with four repeats. This study documents the association between common genetic variation and behavioural trajectories in males with FXS. Results suggest specific SNPs play an important role in longitudinal behavioural patterns in FXS. This work may facilitate an understanding of individual trajectories for people with FXS, and, therefore, support future tailored interventions.

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3. Cheng Y, Shi J, Cheng X, Wei Y, Wang J, Jiang Z. Impact of social knowledge and skills training based on UCLA PEERS® on social communication and interaction skills of adolescents or young adults with autism: A systematic review and meta-analysis. Asian J Psychiatr;2025 (Mar 1);106:104422.

This study provided a systematic review and meta-analysis of UCLA PEERS® for social skills improvement in adolescents or young adults with autism. A total of 21 randomized controlled trials and 10 non-randomized controlled trials were included, and six different outcome indicators were analyzed. The results showed that PEERS improved participants’ knowledge of social skills, ability to apply social skills, and emotional intelligence, and the difference between caregiver-reported scores and teacher-reported scores was statistically significant. The PEERS intervention produced the smallest effect using PEERS in East Asia. This study discussed the significance of PEERS on the improvement of social skills in ASD and the reasons for the results of the subgroup analyses, and provided some recommendations for PEERS intervention methods that may help to improve the effectiveness of the intervention.

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4. Hooshmandi M, Ho-Tieng D, Lister KC, Cai W, Wong C, Brown N, Fan J, Hovhannisyan V, Uttam S, Prager-Khoutorsky M, Sonenberg N, Gkogkas CG, Khoutorsky A. Postnatal downregulation of Fmr1 in microglia promotes microglial reactivity and causes behavioural alterations in female mice. Mol Autism;2025 (Mar 7);16(1):17.

BACKGROUND: Fragile X syndrome is caused by the loss of the Fmr1 gene expression. Deletion of Fmr1 in various neuronal and non-neuronal subpopulations in the brain of mice leads to cell-type-specific effects. Microglia, immune cells critical for the refinement of neuronal circuits during brain development, have been implicated in various neurodevelopmental disorders, including fragile X syndrome. However, it is unknown whether reduced Fmr1 expression in microglia leads to molecular and behavioral phenotypes. METHODS: We downregulated Fmr1 in microglia during early and late postnatal development and studied the effect on microglial morphology and distinct behaviours. RESULTS: Female, but not male, adult mice with downregulation of Fmr1 in microglia during early development exhibited reactive microglia and behavioral phenotypes, including enhanced self-grooming and alterations in social interaction. Downregulation of Fmr1 in microglia during late development induced a milder phenotype, characterized by impaired preference for social novelty without affecting microglia morphology. CONCLUSIONS: The downregulation of Fmr1 and its encoded protein FMRP in microglia contributes to behavioural phenotypes in a sex-specific manner.

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5. Liu Y, Sun Y, Chen A, Chen J, Zhu T, Wang S, Qiao W, Zhou D, Zhang X, Chen S, Shi Y, Yang Y, Wang J, Wu L, Fan L. Involvement of disulfidptosis in the pathophysiology of autism spectrum disorder. Life Sci;2025 (Mar 5):123531.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, with oxidative stress recognized as a key pathogenic mechanisms. Oxidative stress disrupts intracellular dynamic- thiol/disulfide homeostasis (DTDH), potentially leading to disulfidptosis, a newly identified cell death mechanism. While studies suggest a link between DTDH and ASD, direct evidence implicating disulfidptosis in ASD pathogenesis remains limited. In this study, Mendelian randomization analysis revealed a significant causal association between disulfidptosis-related sulfhydryl oxidase 1 and 2 and ASD (OR1 = 0.883, OR2 = 0.924, p < 0.05). A positive correlation between protein disulfide-isomerase and cognitive performance (OR = 1.021, p < 0.01) further supported the role of disulfidptosis in ASD. Seven disulfidptosis-related genes (TIMP1, STAT3, VWA1, ADA, IL5, PF4, and TXNDC12) were identified and linked to immune cell alterations. A TF-miRNA-mRNA regulatory network and a predictive model (AUC = 0.759) were constructed and external validation datasets (AUC = 0.811). Immune infiltration analysis demonstrated altered expression of naive B cells and three other types of immune cells in ASD children. Animal experiments further validated the differential expression of key genes, highlighting their relevance to ASD pathogenesis. Animal experiments found that BTBR mice exhibit glucose starvation and NADPH depletion, with the specific indicator Slc7a11 being highly expressed. Silencing Slc7a11 can improve core ASD impairments in BTBR mice. CONCLUSION: This study establishes the first mechanistic link between disulfidptosis and ASD, identifies seven key genes and their regulatory network, and develops a predictive model with clinical utility. Animal experiments further confirmed the strong association between disulfidpotosis and ASD phenotypes. These findings offer novel therapeutic targets for modulating oxidative stress in ASD.

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6. McNaughton KA, Dziura S, Lemay EP, Jr., Yarger HA, Redcay E. Neural similarity and interaction success in autistic and non-autistic adolescents. Sci Rep;2025 (Mar 7);15(1):7996.

High-quality social interactions promote well-being for typically developing and autistic youth. One factor that may contribute to the quality of social interactions is neural similarity, a metric which may capture shared perspectives and experiences of the world. The current research investigates relations between neural similarity to peers and day-to-day interaction success as measured through ecological momentary assessment in a sample of autistic and non-autistic youth aged 11-14 years old. Neural similarity was operationalized as the between-participant correlation of participants’ neural response to naturalistic video stimuli in areas of the brain implicated in mental state understanding and reward processing. Neural similarity did not have a main effect on interaction success. However, across the full sample, neural similarity significantly interacted with reported closeness, such that there were more positive relations between neural similarity and interaction success for closer interactions. Neural similarity also marginally interacted with social partner (i.e., interactions featuring peers versus others) to predict interaction success, suggesting more positive relations between neural similarity and interaction success in peer interactions. In addition, non-autistic youth reported significantly better peer interactions than autistic youth. These findings suggest that similarity to one’s peers in neural processing in mentalizing and reward regions is important for understanding interaction success. They also highlight the challenge peer interactions may pose for autistic youth and propose novel links between peer interaction success and the brain’s mentalizing processes.

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7. Tezcan ME, Ataş AE, Göncüoğlu A, Ekici F, Kozanhan B. Are olfactory bulb volume decreases and olfactory sulcus deepening associated with atypical sensory behaviours in children with autism spectrum disorders?. J Psychiatr Res;2025 (Mar 1);184:176-186.

BACKGROUND: The aim of this study was to investigate the olfactory bulb (OB), fusiform gyrus (FG) and amygdala volumes and superior temporal sulcus (STS) and olfactory sulcus depths (OSD) using magnetic resonance imaging in children with autism spectrum disorders (ASDs) in comparison with those in typically developing (TD) controls and their effects on autism symptom severity. METHODS: This study included 79 children with ASDs and 100 TD controls aged 4-10 years. The Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (AuBC) were used to measure ASD severity. RESULTS: The ASD group had significantly lower OB, FG and amygdala (right, left and total) volumes and significantly higher right OSD than the TD group. However, no significant difference in STS depth was found between the groups. Left and total OB volumes and right, left and total OSD were positively correlated with AuBC use of body and objects use scores, while left and total OSD were negatively correlated with AuBC language skill scores. Right, left and total amygdala volumes were positively correlated with CARS scores and right FG volume was positively correlated with AuBC use of body and objects use scores. After controlling for potential confounders such as total brain volume, age and sex, the results of the analysis of covariance remained unchanged. FG volume was the strongest predictor of ASD in the multiple logistic regression model. CONCLUSIONS: This study suggests that OB, FG and amygdala volumes and right OSD may play a role in the etiopathogenesis of cortical development in children with ASD.

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8. Tsujimura K, Ortug A, Alatorre Warren JL, Shiohama T, McDougle CJ, Marcus RE, Tseng CJ, Zürcher NR, Mercaldo ND, Faja S, Maunakea A, Hooker J, Takahashi E. Structural pathways related to the subventricular zone are decreased in volume with altered microstructure in young adult males with autism spectrum disorder. Cereb Cortex;2025 (Mar 6);35(3)

Autism spectrum disorder is a neurodevelopmental condition characterized by reduced social communication and repetitive behaviors. Altered neurogenesis, including disturbed neuronal migration, has been implicated in autism spectrum disorder. Using diffusion MRI, we previously identified neuronal migration pathways in the human fetal brain and hypothesized that similar pathways persist into adulthood, with differences in volume and microstructural characteristics between individuals with autism spectrum disorder and controls. We analyzed diffusion MRI-based tractography of subventricular zone-related pathways in 15 young adult men with autism spectrum disorder and 18 controls at Massachusetts General Hospital, with validation through the Autism Imaging Data Exchange II dataset. Participants with autism spectrum disorder had reduced subventricular zone pathway volumes and fractional anisotropy compared to controls. Furthermore, subventricular zone pathway volume was positively correlated (r: 0.68; 95% CI: 0.25 to 0.88) with symptom severity, suggesting that individuals with more severe symptoms tended to have larger subventricular zone pathway volumes, normalized by brain size. Analysis of the Autism Imaging Data Exchange cohort confirmed these findings of reduced subventricular zone pathway volumes in autism spectrum disorder. While some of these pathways may potentially include inaccurately disconnected pathways that go through the subventricular zone, our results suggest that diffusion MRI-based tractography pathways anatomically linked to the periventricular region are associated with certain symptom types in adult males with autism spectrum disorder.

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9. Vassall SG, Quackenbush WJ, Wallace MT. Minimal Differences in Auditory and Visual Oddball Tasks in Autism: A Systematic Review and Meta-Analysis. J Autism Dev Disord;2025 (Mar 8)

Autism is a neurodevelopmental condition that presents with significant changes in sensory processing, and which has recently been associated with differences in sensory expectations. One method for measuring sensory expectations (i.e., predictions) is via oddball paradigms, in which a deviant stimulus is presented following a series of repeated stimuli. In EEG signals, this deviance elicits a characteristic mismatch negativity (MMN) response, which acts as a neural signature of deviance detection and perception. Given the growing focus on sensory prediction in autism, a number of studies have now employed the oddball paradigm, with mixed results. We conducted a meta-analysis to better understand the utility of oddball paradigms in evaluating sensory prediction differences in the autism population. A comprehensive literature search queried the PubMed database for empirical auditory and visual oddball studies comparing autistic and non-autistic individuals. Statistical analyses were all conducted in R. We estimated true effect sizes and characterized the effects of various study characteristics on effect size using a multi-level random effects model and robust variance estimation (RVE). Publication bias and study quality were also assessed. Although individual studies have reported differences, the results of this meta-analysis suggest no significant group differences between autistic and non-autistic individuals in auditory or visual oddball perception, recognition, or neural signatures. When used in autism research, auditory and visual oddball MMN responses may not inherently capture changes in sensory prediction, and significant findings may be related more to individual variability than diagnostic group.

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10. Wo SW, Alagappar PN, Yahya AN, Woo PJ. Validation of the English version of the TOY8 developmental screening tool: examining measurement invariance across languages, gender and income groups. BMC Psychol;2025 (Mar 7);13(1):214.

BACKGROUND: The National Health and Morbidity Survey in Malaysia (2022) revealed a significant increase in developmental delays among young children. Early detection using valid, accessible, and cross-culturally appropriate developmental screening tools is essential. Thus, English-language and Malay versions of the TOY EIGHT developmental screening tool (TOY8) were developed using artificial intelligence and a standardized parent-proxy questionnaire. This study aimed to examine the construct validity and reliability of the English version of TOY8, building on the previously validated Malay TOY8, and to examine measurement invariance across language versions, gender, and income groups. METHODS: TOY8 was designed and developed to screen for developmental problems in children aged 3-5 years in Malay and English by an interdisciplinary research team drawing upon both national and international guidelines, and then reviewed by an expert panel (n = 5). Two samples of parents and their children were recruited: 1767 dyads to complete the English TOY8 and another 1724 dyads to complete the Malay TOY8. RESULTS: The confirmatory factor analysis results indicated that the model structure of the English TOY8 matched that of the Malay TOY8. The split-half reliability coefficient indicated adequate to high reliability, which is also consistent with the Malay TOY8. Our results showed that all configural and metric invariance models across groups had a good fit to the data, demonstrating that multiple-group confirmatory factor analysis was appropriate. Finally, scalar invariance was only achieved in certain domains across gender and not in language versions or income groups. CONCLUSION: The English TOY8 demonstrates construct validity and reliable screening tool for identifying developmental milestones in children aged 3-5 years in Malaysia. In addition, configural and metric invariances across groups in all domains were established, indicating the cross-cultural equivalence of the items, and scalar invariance was established across genders in most 3- to 5-year-old domains. These findings provide preliminary evidence supporting reliability and validity that aligns with previous literature on child development, which indicates a general similarity in the gender and cross-cultural development domains in the first years of life, but not for older children, in terms of language and socioemotional skills.

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11. Zhou X, Deng YY, Qian L, Zhong SS, Zou FY, Shen LS, Luo XW, Yin BY, He YF, Guo RM. Alterations in brain iron and myelination in children with ASD: a susceptibility source separation imaging study. Neuroimage;2025 (Mar 6):121128.

Autism spectrum disorder (ASD) may have both brain iron and myelin changes, but traditional methods fail to differentiate them. This study utilized an advanced susceptibility source separation technique, APART-QSM (iterAtive magnetic suscePtibility sources sepARaTion), to investigate brain iron and myelination alterations in children with ASD and link neuroimaging findings to clinical symptom severity. Sixty-five school-aged children with ASD and Sixty age- and sex-matched typically developing children were included. By providing enhanced and broader detection capabilities compared to conventional QSM, APART-QSM uncovered reduced iron content across multiple deep gray matters and decreased myelin content in the globus pallidum in ASD. The iron and myelin contents in the globus pallidum and iron content in the substantia nigra were significantly negatively correlated with ASD symptom severity. Coexisting abnormal brain iron and myelin contents in ASD, particularly in the globus pallidus, offer innovative and promising insights into ASD pathology and potential biomarkers.

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