1. Adachi T, Higuchi S, Okuma T, Mori J. Type 2 Diabetes Mellitus with Diabetic Ketoacidosis, Hypertriglyceridemia, and Acute Pancreatitis in an Adolescent with Autism Spectrum Disorder and Pancreatic Divisum. Cureus;2025 (Jan);17(1):e76818.

Children with developmental disorders such as autism spectrum disorder (ASD) may not only develop type 2 diabetes mellitus (T2DM) due to psychosocial stress and overeating but also experience severe complications such as acute pancreatitis (AP) and hypertriglyceridemia (HTG). Consequently, in pediatric patients with concurrent T2DM and developmental disorders, a comprehensive approach is necessary that includes not only imaging evaluations for AP but also assessments of risk factors such as psychological stress and metabolic abnormalities. We report the case of a 13-year-old male child, with a family history of T2DM in his paternal grandfather, who presented with severe diabetic ketoacidosis (DKA) and HTG (triglycerides 2118 mg/dL). His condition was considered to have been triggered by psychosocial stress following the divorce of his parents two months previously, which led to episodes of overeating. Two weeks prior to admission, he had consumed excessive amounts of soft drinks. The patient was initially treated with fluids, insulin, and mannitol for cerebral edema. On the third day post admission, he developed AP, which was confirmed by the occurrence of abdominal pain, elevated pancreatic enzyme levels, and the findings of CT imaging. Subsequent imaging revealed pancreatic divisum. The patient was also diagnosed with ASD during hospitalization. Following a temporary initial recovery, the patient experienced worsening obesity and was started on metformin and icosapent ethyl to manage recurrent T2DM and HTG. In this case, the development of T2DM was considered to have been primarily associated with ASD, which subsequently led to DKA, HTG, and AP, with pancreatic divisum believed to be an additional predisposing factor contributing to these conditions. To the best of our knowledge, there have been no previous reports of T2DM associated with DKA, HTG, AP, ASD, and pancreatic divisum.

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2. Andersen RE, Talukdar M, Sakamoto T, Song JHT, Qian X, Lee S, Delgado RN, Zhao S, Eichfeld G, Harms J, Walsh CA. Autism-Associated Genes and Neighboring lncRNAs Converge on Key Gene Regulatory Networks. bioRxiv;2025 (Jan 22)

The diversity of genes implicated in autism spectrum disorder (ASD) creates challenges for identifying core pathophysiological mechanisms. Aggregation of seven different classes of genetic variants implicated in ASD, in a database we call Consensus-ASD , reveals shared features across distinct types of ASD variants. Functional interrogation of 19 ASD genes and 9 neighboring long non-coding RNAs (lncRNAs) using CRISPR-Cas13 strikingly revealed differential gene expression profiles that were significantly enriched for other ASD genes. Furthermore, construction of a gene regulatory network (GRN) enabled the identification of central regulators that exhibit convergently altered activity upon ASD gene disruption. Thus, this study reveals how perturbing distinct ASD-associated genes can lead to shared, broad dysregulation of GRNs with critical relevance to ASD. This provides a crucial framework for understanding how diverse genes, including lncRNAs, can play convergent roles in key neurodevelopmental processes and ultimately contribute to ASD.

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3. Bidwe R, Mishra S, Bajaj S, Kotecha K. Leveraging hybrid model of ConvNextBase and LightGBM for early ASD detection via eye-gaze analysis. MethodsX;2025 (Jun);14:103166.

ASD is a mental developmental disorder that significantly impacts the behavioural and communicational abilities of the child. ASD is affecting the world hard, and its global presence continuously increases. One of the reasons for this trend may be a pandemic, which increases screen time for children and decreases communication with peers or family. A lengthy and subjective non-clinical procedure is currently placed for detecting ASD, which is followed by a series of therapy sessions to cure it. This research introduces a novel method for eye gaze analysis to identify autistic traits in children. This proposed work offers•A novel method of ConvNextBase and LightGBM leveraging eye position as a feature for early detection of autistic traits.•A new ConvNextBase architecture proposed with few unfreezed layers and extra dense layers with units of 512 and 128, respectively, and dropout layers with a rate of 0.5 that extract rich, high-level, and more complex features from the images to improve generalization and mitigate overfitting.•A LightGBM model performed classification using 3-fold cross-validation and found the best parameters for bagging_function, feature_fraction, max_depth, Number_of_leaves and learning_rate with values of 0.8, 0.8, -1, 31 and 0.1 respectively, to improve the model’s robustness on unseen data.This proposed method is trained and tested on the publicly available Kaggle dataset, and results are benchmarked with other state-of-the-art methods. The experimentation finding shows that the proposed systems outperform other cutting-edge techniques in accuracy and specificity by 95 % and 98 %, respectively. Furthermore, the model achieved a precision of 93 %, showing that the model effectively reduces false positives and identifies false positives correctly. The classification process yielded 91 % under the AUC-ROC curve, showing the model’s strong classification capability.

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4. Coller RJ, Smith DaWalt L. Autism Spectrum Disorder and Medical Complexity: A Sum Greater than its Parts. Pediatrics;2025 (Feb 3)

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5. Gao X, Xu G, Fu N, Ben Q, Wang L, Bu X. The effectiveness of music therapy in improving behavioral symptoms among children with autism spectrum disorders: a systematic review and meta-analysis. Front Psychiatry;2024;15:1511920.

OBJECTIVES: This comprehensive review and meta-analysis aimed to thoroughly identify the effectiveness of music therapy (MT) in improving behavioral symptoms in children with autism spectrum disorders (ASD) by analyzing the data from all relevant randomized controlled trials (RCTs) related to this field. METHODS: From inception until September 18, 2024, PubMed, Web of Science, the Cochrane Library, SinoMed, and Embase were searched. Two reviewers extracted the data separately, and any controversies between the authors’ assessments were resolved by conversation or speaking with another author. The behavioral symptoms scale score before and after the intervention was taken from the included trials and used to reflect the therapeutic effect of music therapy in children with autism. RESULTS: 2607 records across all retrieved databases were discovered, thirteen of which were included in a meta-analysis with 1160 participants. According to the meta-analysis, children with autism showed a substantial improvement in their behavior symptoms when receiving music treatment (standardized mean difference [SMD] = -0.66, 95% confidence interval [CI]: -0.93 to -0.39, p < 0.001). With I (2) = 78% and P < 0.001, we did discover a medium level of heterogeneity among the included studies. CONCLUSIONS: MT has a positive impact on improving behavioral symptoms in children with autism. However, given the significant heterogeneity and limitations in this study, RCTs with rigorous methodological quality are still required to confirm the curative benefits of MT in autistic children precisely. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42024597939.

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6. Goldschlager J, Cintron C, Hall R, Shields T, Tolbert GL, Woldebirhan R, Agarwal K, Joseph PV. Taste Processing in Autism Spectrum Disorder: A Translational Scoping Review. Neurosci Biobehav Rev;2025 (Jan 31):106031.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent challenges in social communication and restricted/repetitive behaviors, including sensory atypicalities. Taste processing is critical for assessing the sensory and hedonic properties of food; however, it remains understudied in ASD, which may limit our understanding of the disorder’s links to selective eating and nutritional deficits. This scoping review on autistic gustatory functioning followed a predefined protocol. We conducted searches across four databases and identified 37 studies involving human participants, categorized into three methodologies: questionnaires, neuroimaging, and psychophysical tests. Additionally, eight studies on ASD animal models were included to offer cross-species insights. Questionnaire data generally indicate that individuals with ASD exhibit differences in taste reactivity compared to those without ASD. Neuroimaging studies suggest potential involvement of specific brain regions, including hippocampal volume and anterior superior temporal sulcus (aSTS) connectivity in atypical taste processing. Psychophysical assessments and animal studies further reveal variability in basic taste sensitivity, with individuals with ASD showing particular sensitivity to bitterness and showing either no difference or a decreased preference for sweetness compared to typically developing peers. This review also highlights research gaps regarding specific qualitative tastes such as saltiness, sourness, and umami in ASD, limiting a comprehensive understanding of ASD’s chemosensory profile and emphasizing the need for further research in these areas.

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7. Itahashi T, Aoki R, Nakamura M, Ohta H, Hashimoto RI. Sensory seeking and its influence on sustained attention performance in adult males with Autism Spectrum Condition. Sci Rep;2025 (Feb 3);15(1):4047.

Atypical sensory responses and seeking behaviors constitute the core symptoms of autism spectrum condition (ASC). There are possible links between atypical sensory profiles and attentional challenges in ASC. Due to the paucity of studies in adults, the nature of attentional challenges and their associations with sensory profiles in autistic adults remain elusive. Here, we investigated sustained attention performance and its associations with sensory profiles in 28 autistic adult males and 23 typically developing controls (TDCs). A gradual-onset continuous performance task and the Adolescent/Adult Sensory Profile were employed to assess sustained attention performance and sensory profiles, respectively. Our results revealed that the two groups exhibited comparable sustained attention performance quantified by d-prime. A statistically significant negative correlation between d-prime and sensory seeking was observed only in the ASC group. Moreover, an interaction effect of group-by-sensory seeking was observed in d-prime, suggesting a unique interplay between sensory profiles and attention in autistic individuals. In the ASC group, omission error rate and post-error slowing were statistically significantly associated with difficulties in social communication and interactions. These results contribute to understanding attentional processes in ASC and highlight the potential influence of sensory profiles on cognitive functions in this population.

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8. Kang J, Wu J, Huang X, Mao W, Li X. Differential effects of left DLPFC anodal and cathodal tDCS interventions on the brain in children with autism: A randomized controlled trial. IBRO Neurosci Rep;2025 (Jun);18:171-179.

BACKGROUND: Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with few effective treatment options. In recent years, transcranial direct current stimulation (tDCS) has been applied in interventions for ASD, often targeting the left dorsolateral prefrontal cortex (DLPFC). However, studies investigating anodal and cathodal tDCS interventions have reported differing outcomes. Therefore, this study aimed to compare and analyze the effects of these two stimulations through a randomized controlled trial, utilizing both behavioral assessments and EEG proxy markers capable of characterizing the brain’s excitatory-inhibitory balance. METHODS: This study recruited a total of 24 children with ASD (20 males and 4 females; mean age ± SD: 5.5 ± 1.2 years), who were randomly divided into two groups receiving either anodal or cathodal tDCS targeting the DLPFC. The stimulation intensity was set at 1 mA, administered five times per week for a total of 20 sessions. Behavioral intervention outcomes were assessed using the Social Responsiveness Scale (SRS) and the Autism Behavior Checklist (ABC). Additionally, the study evaluated the effects of tDCS on the brain’s excitatory-inhibitory balance by analyzing corrected periodic alpha oscillation power and bandwidth, as well as non-periodic exponent and offset derived from EEG data. RESULTS: Following anodal tDCS intervention, results from the SRS scale indicated a decrease in overall scores, with significant differences observed in social communication and social motivation among children. On the ABC scale, overall scores also decreased, with significant differences noted in sensory behavior, social relating, body and object use, and language and communication skills. Non-periodic exponent and offsets increased following anodal tDCS stimulation, whereas they decreased after cathodal tDCS stimulation. Regarding alpha oscillation power, there was a significant increase following anodal tDCS and a significant decrease following cathodal tDCS. In terms of alpha oscillation bandwidth, there was a reduction following anodal tDCS and an increase following cathodal tDCS. Further correlation analysis revealed that in children who received anodal tDCS intervention, non-periodic exponent showed correlations with behaviors such as social communication. CONCLUSION: Our study results demonstrated that anodal and cathodal tDCS targeting the left DLPFC had distinct effects on the behavior and excitatory-inhibitory balance of children with ASD. Anodal tDCS intervention appeared to have a more positive impact compared to cathodal intervention. However, the sample size was small, and we focused solely on the effects of tDCS, with our experimental design perhaps not being able to generalize to all external manipulations of excitability in our study. In future research, we will continue to improve the experiments to address these limitations.

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9. Kim HW, Hwang SK, Joung YS. Response to [Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder]. Psychiatry Clin Neurosci;2025 (Feb 3)

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10. Lepagnol-Bestel AM, Loe-Mie Y, Bensaid M, Simonneau M. AUTS2 expression within mammalian lineage: A predictor of neural networks involved in autism spectrum disorders. Genes Dis;2025 (May);12(3):101440.

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11. Lin PI. Editorial: Clinical Implications of Emotional Dysregulation Trajectories in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry;2025 (Jan 29)

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12. O’Neill E, Curham L, C NC, O’Brien S, McManus G, Moran B, Rubin K, Glazer S, Lynch MA, Mills KHG. Neonatal infection with Bordetella pertussis promotes autism-like phenotypes in mice. iScience;2025 (Jan 17);28(1):111548.

Autism spectrum disorder (ASD) has been linked with infections early in life. Here we demonstrate that the infection of neonatal mice with the respiratory pathogen Bordetella pertussis leads to neuroinflammation, neurodevelopmental defects, and ASD-like behaviors. Following the respiratory challenge of neonatal mice with B. pertussis, multiple atypical CNS findings were observed, including blood-brain barrier disruption, dissemination of live B. pertussis bacteria to the brain with the concomitant infiltration of inflammatory monocytes, neutrophils, and activated IL-17A- and IFN-γ-producing CD4 T cells. Microglia from infected mice were activated, with impaired phagocytic function, resulting in defective synaptic pruning and disrupted neuronal circuit formation. Impaired neurodevelopment in B. pertussis-infected post-natal mice was associated with ASD-like behavioral abnormalities in young adulthood. Our data indicate that infection with virulent B. pertussis during infancy increases the risk of autism-like behavior in young adult mice. A study into the potential role of B. pertussis in human ASD is warranted.

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13. Parashar S, Das S, Sharma N, Puar S. Effect of brief reflective parenting in parents of young children with autism spectrum disorder: Pre and post-intervention study. Ind Psychiatry J;2024 (Jul-Dec);33(2):341-345.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. The prevalence rate after COVID-19 is 0.3%. Inferential processing style in parents plays a major role in maintaining the psychopathology in children. Brief reflective parenting intervention has not yet been studied in the context of inferential processing style in parents of young children with ASD. AIM: To study the effect of brief reflective training on parents of children with Autism spectrum disorder. MATERIALS AND METHODS: This intervention study was conducted on parents of individuals diagnosed with ASD based on ICD-10 DCR, following certain inclusion and exclusion criteria. Data was collected from various General Hospital Psychiatry Unit in Delhi NCR, using a purposive sampling technique. Cognitive Style Questionnaire-Short Form was administered as an outcome measure to assess inferential negative style. Data was statistically analyzed using the Wilcoxon rank test. RESULTS: Findings suggested improvement in inferential negative style after parents attended the intervention of brief reflective training workshop, and the improvement was statistically significant. CONCLUSION: The study highlights the potential benefits of brief reflective training in enhancing cognitive processing styles among parents of children with ASD.

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14. Razjouyan K, Babazadeh Dezfoly A, Davari Ashtiani R, Khademi M, Arabgol F, Nasiri MJ, Piri N, Miri MA. Investigating the Prevalence of Neurological Soft Signs in Children with Autism Spectrum Disorder and their Siblings: A Cross-Sectional Study. Iran J Child Neurol;2025;19(1):25-35.

OBJECTIVES: Autism is determined by children’s inability to communicate with others through language. More studies have shown that neurological soft signs (NSS) can be one of the symptoms of psychiatric disorders, including schizophrenia. However, complete and proven evidence regarding the role of NSS in the pathogenesis of autism has not been determined. For this purpose, this research investigated the prevalence of NSS in children with autism spectrum and their siblings and compared it with the control group. MATERIALS & METHODS: The current study was cross-sectional. In this study, thirty-two children aged 7-17 who had been referred to the pediatric psychiatry clinics of Imam Hossein Hospital and the Autism Charitable Association in Tehran, Iran, were entered; they were diagnosed with an autism disorder by a child and adolescent psychiatrist based on the DSM-5 diagnostic criteria. Furthermore, thirty-two siblings of children with autism in the age group of 7-17 years who did not have any neurological and mental disorders were included; thirty-two healthy individuals (controls) who did not have any disorders were evaluated with the K-SADS checklist. Gilliam Autism Rating Scale 3rd Edition (GARS-3) was also used to confirm the diagnosis and severity of the disease. RESULTS: The results showed that the incidence of NSS in the patient group was higher than in the other two groups, which was statistically significant (p<0.05). Furthermore, the results indicated that these signs had a high diagnostic value in identifying patients from healthy people. CONCLUSION: In general, using the NSS score in patients with autism can be considered a prediction factor compared to their siblings. In addition, the score had no effect on the prediction between sibling and control subjects.

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15. Richdale AL, Morris EMJ, Lawson LP. Suicidality in Autistic Adolescents and Adults: Sleep the Unexplored Connection?. Autism Res;2025 (Feb 3)

Despite substantial evidence linking insomnia with increased suicidality in non-autistic populations, its role in autism remains under-explored. Poor sleep, most commonly insomnia symptoms (hereafter insomnia), is a significant issue in autism, affecting up to 80% of autistic children and adults, compared with 30%-50% of children and about 45% of adults in the general population. Sleep, along with quality of life, anxiety, depression, and social well-being, is a top mental health research priority for autistic adults. These factors are all significantly associated with insomnia in both autistic and non-autistic individuals. Current findings highlight the association between depression, psychosocial factors, and suicidality in autistic individuals. Key factors in suicidality for autistic people include increased autistic traits, loneliness, lack of social support, and experiences such as camouflaging and burnout. What is under-explored is the role of sleep in suicidality and mental health in autism. Effective psychological interventions for insomnia in autistic individuals are lacking, and there is limited understanding of whether treating insomnia can reduce suicidality. Only two pilot studies have investigated insomnia treatments for autistic adults. In this commentary, we argue that, given the high rate of suicidality in autism and the potential role of insomnia, it is crucial to investigate whether insomnia contributes to suicidality in autistic people and if addressing sleep through prevention strategies, supports, and interventions improves outcomes. Collaboration with the autistic community is essential for addressing this knowledge gap and developing effective interventions.

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16. Samadi SA, Mahmoodizadeh A, Foladgar M, Moradi SB, Lotfi B, McConkey R. The Childhood Autism Rating Scale Second Edition (CARS2) and Its Applicability in an Iranian Sample. Autism Res;2025 (Feb 3)

The present study aimed to evaluate the reliability and validity of the Childhood Autism Rating Scale: Second Edition (CARS2) in diagnosing individuals with autism in Iran. A mixed-method approach was used and 313 participants were recruited, with an age range of 2-32 years, for CARS2-Standard Form (ST) and 218 individuals aged 6-25 years for CARS2-High Functioning (HF). The participants were recruited from daycare centers, schools, and clinics with different developmental trajectories: autism, intellectual disabilities, and neurotypical development. All participants with autism and intellectual disabilities had been clinically diagnosed previously. In addition, the CARS2-Questionnaire of Parent Concerns (QPC) was used to gather qualitative data on 30 randomly selected parents and the perspectives of the 20 test administrators were also collected. The CARS2 had high internal consistency, inter-rater reliability, and test-retest reliability. Factor analyses revealed a one-factor structure for CARS2-ST and a three-factor structure for CARS2-HF. When adjustments were made to the cut-off points, the discriminant analyses indicated that CARS2 effectively differentiated between those with autism and typical development but less so with persons who had intellectual disabilities. The qualitative data analysis and the extracted themes suggest that the CARS2-QPC is a valid tool for collecting autism-related information from parents. Our findings suggest that the CARS2 is broadly a reliable and valid instrument for diagnosing autism spectrum in Iran in the absence of more extensive assessments.

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17. Smith PH, Shea LL, Rast JE, Hino L, Briskey C, Schendel DE. Autism and Medical Complexity Among Children in the United States. Pediatrics;2025 (Feb 3)

BACKGROUND AND OBJECTIVES: Ongoing systems-level changes aim to better identify and remedy the unmet health care needs of children with medical complexity (CMC). In tandem, home- and community-based services are expanding to support autistic children and their families. Despite the potential for overlap, CMC and autistic children are treated independently in services, research, and policy. We estimated the overlapping prevalence of CMC and autism among US children and health care expenditures for autistic CMC in comparison with other children. METHODS: We analyzed 2 national cross-sectional surveys: the National Survey of Children’s Health (NSCH; 2017-2018, 2019-2022, and 2021-2022) and the Medical Expenditures Panel Survey (MEPS; combined 2010-2021), selecting for children aged 0 to 17 years. CMC were defined using 2 different algorithms varying in stringency. RESULTS: In the most recent 2021 to 2022 NSCH (n = 103 748), the prevalence of CMC among autistic children was 59.28% (95% CI, 55.61%-62.84%) using one algorithm and 17.56% (95% CI, 14.41%-21.24%) using the more stringent algorithm. Forty-one percent of CMC were autistic using either algorithm. In the MEPS data (n = 55 637), autistic CMC had significantly greater median health care expenditures compared with other CMC and other autistic children. CONCLUSIONS: There is extensive overlap of CMC and autism among children in the United States. When medical complexity and autism are both evident, expenditures are significantly higher than for either category alone. Despite this overlap and the associated high need, CMC and autism are generally treated as separate groups in services, research, and policy. These findings underscore the importance of cohesively understanding service needs across CMC, autistic children, and their caretakers.

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18. Swami V, Voracek M, Furnham A, Horne G, Longhurst P, Tran US. Is nature exposure in autistic adults associated with more positive body image?. Body Image;2025 (Feb 1);52:101854.

A growing body of evidence suggests that exposure to natural environments is associated with more positive body image, but such work has invariably centred the experiences of neurotypical adults and bodies. To rectify this oversight, we examined whether direct and indirect (i.e., mediational) pathways between nature exposure and an index of positive body image (i.e., body appreciation) are significant in autistic adults. A total of 303 autistic adults (age M = 36.69, range 18-75 years) from the United Kingdom completed an online survey that included measures of nature exposure, body appreciation, self-compassion, and nature connectedness, as well as sociodemographic variables. Structural equation modeling was used to test a hypothesised parallel mediation model in which self-compassion and connectedness to nature, respectively, mediated the association between nature exposure and body appreciation. Results showed that connectedness to nature, but not self-compassion, mediated the relationship between nature exposure and body appreciation. This finding was robust to sensitivity analyses and consistent across participants who identified as women and men. These results suggest that nature exposure is associated with more positive body image in autistic adults, which practitioners may find useful in designing population-specific nature-based interventions.

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19. Thorpe D, Kerns CM, Moskowitz LJ, Drahota A, Lerner M. Understanding the Association Between Neighborhood Resources and Trauma-Informed Care Among Providers Who Serve Autistic Youth. Autism Res;2025 (Feb 3)

A growing body of literature suggests that youth with autism spectrum disorders (ASD), herein, autistic youth, face an increased risk of being exposed to adverse childhood experiences (ACEs). However, trauma-informed approaches to care among autistic youth remain limited. In a large cross-sectional survey of ASD providers (N = 670) recruited from five U.S. locations, we examined the association between neighborhood resources using the Child Opportunity Index (i.e., educational, health/environmental, and social/economic opportunities) and the frequency at which providers engaged in trauma-informed care (i.e., inquire about, screen for, treat, and provide referrals for trauma diagnosis and treatment) and the types of adverse childhood experiences (ACEs) they screen for (i.e., maltreatment/neglect and household dysfunction). The latent model revealed that providers in neighborhoods with fewer resources engaged in more trauma-informed care and were more likely to screen for ACEs related to household dysfunction. Follow-up exploratory analyses indicated that providers in the lowest 20% of opportunity neighborhoods made the greatest efforts in trauma screening for maltreatment and household dysfunction, followed closely by those in the lowest 40%, compared to higher-opportunity areas. Sensitivity analyses, controlling for potential nesting effects, confirmed similar results. These findings may suggest a concerted effort to ensure that autistic youth in highly disadvantaged areas receive adequate trauma screening. However, lower screening rates in higher-resourced neighborhoods may mean trauma-exposed autistic youth in these areas are overlooked. Expanding provider training to emphasize trauma inquiry across all neighborhoods could help address this gap. Limitations, implications for policy and practice, and future directions are discussed.

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20. Tusa BS, Alati R, Betts K, Ayano G, Dachew B. Associations of maternal perinatal depressive disorders with autism spectrum disorder in offspring: Findings from a data-linkage cohort study. Aust N Z J Psychiatry;2025 (Feb 3):48674251315641.

BACKGROUND: There is limited research on the association between maternal depression and autism spectrum disorder, and existing studies face significant limitations, including inadequate control for confounders, reliance on self-reported data, small sample sizes and lack of investigation into mediating factors. This study addresses these gaps by examining the direct relationship and the potential mediating effects of preterm birth, low birth weight and low Apgar scores. METHODS: We analysed linked administrative health data involving 223,068 mother-offspring pairs in New South Wales, Australia. Maternal perinatal depressive disorders and offspring autism spectrum disorder were assessed using the International Classification of Diseases, Tenth Revision, Australian Modification (ICD-10 AM). A generalised linear model was employed to examine the association. The mediation effects of preterm birth, low birth weight and low Apgar scores were assessed through mediation analysis. RESULTS: After adjusting for a range of potential confounders, offspring of mothers with antenatal, postnatal and overall perinatal depressive disorders had a 61% (risk ratio = 1.61, 95% confidence interval = [1.12, 2.32]), 85% (risk ratio = 1.85, 95% confidence interval = [1.20, 2.86]) and 80% (risk ratio = 1.80, 95% confidence interval = [1.33, 2.43]) higher risk of autism spectrum disorder, respectively. Only about 1.29% and 1.31% of the effect of maternal antenatal depressive disorders on offspring autism spectrum disorder was mediated by preterm birth and low Apgar scores, respectively. Low birth weight had no significant mediating effect on the association. CONCLUSION: Maternal perinatal depressive disorders are associated with an increased risk of autism spectrum disorder in offspring. Preterm birth and low Apgar scores were weak mediators of this association. Early intervention strategies that aim to enhance maternal mental health and mitigate the risk of exposed offspring are needed.

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21. Vaillend C, Aoki Y, Mercuri E, Hendriksen J, Tetorou K, Goyenvalle A, Muntoni F. Duchenne muscular dystrophy: recent insights in brain related comorbidities. Nat Commun;2025 (Feb 3);16(1):1298.

Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.

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22. Wagner L, Banchik M, Tsang T, Okada NJ, Altshuler R, McDonald N, Bookheimer SY, Jeste SS, Green S, Dapretto M. Atypical early neural responses to native and non-native language in infants at high likelihood for developing autism. Mol Autism;2025 (Feb 3);16(1):6.

BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis – who are at higher likelihood for developing ASD – a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine differences in language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of lateralization for speech processing, particularly during native speech processing, suggesting a failure to left-lateralize. LIMITATIONS: The sample size, particularly for the TL group, is relatively modest because of the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. The groups were not matched on some demographic variables, but the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments.

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23. Yang JQ, Yin BQ, Yang CH, Jiang MM, Li Z. A critical period for paired-housing-dependent autistic-like behaviors attenuation in a prenatal valproic acid-induced male mouse model of autism. Front Neurosci;2024;18:1467047.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and the presence of restrictive and repetitive behaviors. Investigating the etiological process and identifying an appropriate therapeutic target remain as formidable challenges to overcome ASD due to numerous risk factors and complex symptoms associated with the disorder. Recent studies have indicated that early rehabilitative intervention can alleviate the symptoms of individuals with ASD. However, there remain unsolved issues of behavioral intervention such as the appropriate time and types of therapies. In this study, we employed a mouse model prenatally exposed to valproic acid to establish a validated ASD mouse model and We found that paired-housing with control mice for 4 week after weaning palliated sociability deficits, anxiety and repetitive behaviors in this model of ASD-like behaviors, while paired-housing with their ASD littermate did not produce this effects. Furthermore, by evaluating different time window of paired-housing, we found that paired-housing during postnatal day 21 (P21) to P35, but not P21 to P28 or P35 to P49 or P28 to P35, is a critical period for the influence of paired-housing on autistic-like behaviors. Finally, paired-housing with control mice improved the impaired GABA system in this model of ASD. So our study demonstrates the therapeutic potential of environmental intervention during a critical period in the treatment of ASD.

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24. Yang M, Wang J, Zhou Z, Li W, Verkhivker G, Xiao F, Hu G. Decoding Mechanisms of PTEN Missense Mutations in Cancer and Autism Spectrum Disorder using Interpretable Machine Learning Approaches. bioRxiv;2025 (Jan 21)

Missense mutations in oncogenic proteins that are concurrently associated with neurodevelopmental disorders have garnered significant attention. Phosphatase and tensin homolog (PTEN) serves as a paradigmatic model for mapping its mutational landscape and identifying genotypic predictors of distinct phenotypic outcomes, including cancer and autism spectrum disorder (ASD). Despite extensive research into the genotype-phenotype correlations of PTEN mutations, the mechanisms underlying the dual association of specific PTEN mutations with both cancer and ASD (PTEN-cancer/ASD mutations) remain elusive. This study introduces an integrative approach that combines machine learning (ML) with structural dynamics to elucidate the molecular effects of PTEN-cancer/ASD mutations. Analysis of biophysical and network biology-based signatures reveals a complex energetic and functional landscape. Subsequently, an ML model and corresponding integrated score were developed to classify and predict PTEN-cancer/ASD mutations, underscoring the significance of protein dynamics in predicting cellular phenotypes. Further molecular dynamics simulations demonstrated that PTEN-cancer/ASD mutations induce dynamic alterations characterized by open conformational changes restricted to the P loop and coupled with inter-domain allosteric regulation. This research aims to enhance the genotypic and phenotypic understanding of PTEN-cancer/ASD mutations through an interpretable ML model integrated with structural dynamics analysis. By identifying shared mechanisms between cancer and ASD, the findings pave the way for the development of novel therapeutic strategies.

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25. Zeng R, Jiang R, Huang W, Wu H, Zhuo Z, Yang Q, Li J, Leung FW, Sha W, Chen H. Evaluation of causal relationships between genetic liability to inflammatory bowel disease and autism spectrum disorder by Mendelian randomization analysis. Dialogues Clin Neurosci;2025 (Dec);27(1):26-34.

BACKGROUND: Emerging observational studies have indicated the association between autism spectrum disorder (ASD) and IBD, including Crohn’s disease (CD) and ulcerative colitis (UC), whereas the causality remains unknown. METHODS: Summary-level data from large-scale genome-wide association (GWAS) studies of IBD and ASD were retrieved. Mendelian randomisation analyses were performed with a series of sensitivity tests. RESULTS: Genetic predisposition to ASD was not associated with the risk of IBD (odds ratio [OR] = 0.99, 95% confidence interval [CI = 0.91-1.06, p = 0.70; OR [95% CI]: 1.03 [0.93-1.13], p = 0.58 for CD; OR [95% CI]: 0.96 [0.87-1.05], p = 0.37 for UC) in the IIBDGC dataset. In the FinnGen dataset, their causal effects were unfounded (OR [95% CI]: 1.04 [0.94-1.15], p = 0.49 for IBD; OR [95% CI]: 1.08 [0.89-1.31], p = 0.42 for CD; OR [95% CI]: 1.00 [0.88-1.13], p = 0.95 for UC). In the meta-analysis of two datasets, the OR was 1.01 (95% CI 0.96-1.07, p = 0.45). For the risk of ASD under genetic liability to IBD, the OR from meta-analysis was 1.03 (95% CI 1.01-1.05, p = 0.01). CONCLUSION: Our findings indicate genetic predisposition to ASD might not increase the risk of IBD, whereas genetic liability to IBD is associated with an increased risk of ASD. Further investigations using more powerful datasets are warranted.

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26. Zhan B, Chen Y, Wang R, Jiang Y. Prolonged visual perceptual changes induced by short-term dyadic training: The roles of confidence and autistic traits in social learning. iScience;2025 (Feb 21);28(2):111716.

As social creatures, we are naturally swayed by the opinions of others, which largely shape our attitudes and preferences. However, whether social influence can directly impact our visual perceptual experience remains debated. We designed a two-phase dyadic training paradigm where participants first made a visual categorization judgment and then were informed of an alleged social partner’s choice on the same stimulus. Results demonstrated that social influence significantly modified participants’ subsequent visual categorizations, even when they had been well-trained prior to the dyadic training. This effect persisted for an extended period of up to six weeks. Diffusion model analysis revealed that this effect stemmed from perceptual processing more than mere response bias, and its strength was inversely related to the participants’ confidence and autistic-like tendencies. These findings offer compelling evidence that our perceptual experiences are deeply influenced by social factors, with individual confidence and personality traits playing significant roles.

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