1. Aggarwal S. Interdisciplinary, team-based approach for effective care of self-injury in individuals with intellectual and developmental disabilities. Evid Based Nurs. 2025.

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2. Bae S, Hong J, Ha S, Moon J, Yu J, Choi H, Lee J, Do R, Sim H, Kim H, Lim H, Park MH, Ko E, Yang CM, Lee D, Yoo H, Lee Y, Bong G, Kim JI, Sung H, Kim HW, Jung E, Chung S, Son JW, Yoo JH, Jeon S, Kim H, Kim BN, Cheon KA. Multimodal AI for risk stratification in autism spectrum disorder: integrating voice and screening tools. NPJ Digit Med. 2025; 8(1): 538.

Early Autism Spectrum Disorder (ASD) identification is crucial but resource-intensive. This study evaluated a novel two-stage multimodal AI framework for scalable ASD screening using data from 1242 children (18-48 months). A mobile application collected parent-child interaction audio and screening tool data (MCHAT, SCQ-L, SRS). Stage 1 differentiated typically developing from high-risk/ASD children, integrating MCHAT/SCQ-L text with audio features (AUROC 0.942). Stage 2 distinguished high-risk from ASD children by combining task success data with SRS text (AUROC 0.914, Accuracy 0.852). The model’s predicted risk categories strongly agreed with gold-standard ADOS-2 assessments (79.59% accuracy) and correlated significantly (Pearson r = 0.830, p < 0.001). Leveraging mobile data and deep learning, this framework demonstrates potential for accurate, scalable early ASD screening and risk stratification, supporting timely interventions.

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3. Bast N, Ahmad J, Mason L, Jones EJH, Matyjek M, Polzer L, Luckhardt C, Müller AK, McAlonan GM, Banaschewski T, Baumeister S, Loth E, Freitag CM. Locus coeruleus tonic upregulation increases selectivity to inconspicuous auditory information in autistic compared to non-autistic individuals: a combined pupillometry and electroencephalography study. Mol Autism. 2025; 16(1): 41.

BACKGROUND: Sensory processing requires selectivity to salient sensory input. Many autistic individuals report different sensory processing, which has been associated with altered sensory selectivity. The locus-coeruleus norepinephrine (LC-NE) system modulates the neuronal gain of sensory input, which represents a neurophysiological mechanism of sensory selectivity. In autistic individuals, we hypothesized that LC-NE tonic upregulation reduces sensory selectivity and underlies different sensory processing. METHODS: Autistic (n = 139) and non-autistic (n = 98) individuals were assessed during a passive auditory oddball task with pupillometry and electroencephalography. For every trial, a baseline pupil size (BPS) assessed LC-NE tonic activity that coincides with current arousal, while a stimulus-evoked pupillary response (SEPR) assessed LC-NE phasic activity that estimated sensory selectivity. Electroencephalography assessed amplitudes of mismatch negativity (MMN-amp) that estimated pre-attentive change detection as a brain-activity readout of sensory selectivity. Measures were modeled between groups within the task by combining Frequentist and Bayesian approaches. RESULTS: Across groups, higher BPS was associated with more negative MMN-amp to standards and oddballs. A more negative MMN-amp to standards was associated with a higher SEPR to standards. Controlling for these associations, autistic versus non-autistic individuals showed a higher SEPR in response to standards. In addition, a positive association of BPS and SEPR to standards was specific to autistic individuals. With task progression, autistic versus non-autistic individuals showed a higher initial increase and subsequently steeper decrease of BPS. This was supported by Bayesian posterior distribution estimates. LIMITATIONS: A short trial duration required concatenating trials to epochs and applying a linear-time invariant filter to capture the slow pupil changes. Without an LC-NE manipulation, we cannot rule out that pupil changes are evoked by other cortical pathways than the LC-NE. CONCLUSIONS: Across groups, LC-NE tonic upregulation is emphasized as a general mechanism that un-specifically increases pre-attentive change detection to all sensory stimuli, which then increases sensory selectivity to frequent stimuli. In autistic individuals, different sensory processing is characterized by increased sensory selectivity to frequent stimuli. This is likely caused by an LC-NE tonic upregulation. It associates autistic sensory processing with increased arousal upregulation that increases sensory selectivity to inconspicuous auditory information.

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4. Bertamini G, Perzolli S, Bentenuto A, Furlanello C, Chetouani M, Venuti P, Cohen D. Temporal dynamics of early child-clinician prosodic synchrony predict one year autism intervention outcomes using AI driven affective computing. Sci Rep. 2025; 15(1): 31144.

The patient-therapist interpersonal dynamics is a cornerstone of psychotherapy, yet how it shapes clinical outcomes remains underexplored and difficult to quantify. This is also true in autism, where interpersonal interplay is recognized as an active element of intervention. Moreover, behavioral research is time-consuming and labor-intensive, limiting its translational applications. We studied 25 autistic preschoolers (17 therapists) across two naturalistic 60-minute sessions of developmental intervention at baseline and after three months (50 videos total). Clinical outcomes were assessed at baseline and one year into intervention. We developed a fully automated pipeline combining deep learning and affective computing to: (i) segment full-session audio recordings, (ii) model child-clinician acoustic synchrony using nonlinear metrics grounded in complex systems theory, and (iii) predict long-term response from early synchrony patterns. Changes in early synchrony dynamics predicted clinical response. Better outcomes were associated with synchrony patterns reflecting increased variability, predictability, and self-organization alongside prosodic features linked to emotional engagement. Our scalable, non-invasive system enables large-scale, objective measurement of therapy dynamics. In autism, our findings emphasize the importance of early interpersonal synchrony and emotional engagement as active drivers of developmental change. Our approach captures the full dynamics of entire therapy sessions, providing a richer, ecologically valid view of interpersonal synchrony.

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5. Dey I, Pathak S, Chakrabarty S, Belmonte MK, Choudhury S, Kumar H, Chakrabarti B. Elevated autistic features in Parkinson’s disease and other motor disorders. Autism. 2025: 13623613251362267.

Biological accounts have suggested an overlap between Parkinson’s disease and autism despite their being studied largely at opposite ends of the life course. Characterising this overlap can identify potentially shared aetiologies and care pathways for these conditions. However, this overlap has so far only been tested in older autistic adults who show greater Parkinson’s disease traits. The converse has not been directly assayed, that is, if adults with Parkinson’s disease have higher autistic features. This preregistered study addressed this gap in the literature by asking whether adults with Parkinson’s disease manifest elevated autistic traits. To test whether any such overlap might be unique to Parkinson’s disease, we included two control groups: (1) people without any parkinsonism but with motor disability of neurological or neurovascular origin (other motor disorders), and (2) typically ageing controls with no motor disorders. We tested N = 330 participants (equal numbers of Parkinson’s disease, other motor disorders and typically ageing controls) on their autistic traits and cognitive abilities. Clinical diagnoses were verified through a tertiary neurology clinic. Higher autistic traits were noted in both Parkinson’s disease and other motor disorder groups compared to the typically ageing controls, suggesting an association between motor disorders and dimensional autistic traits. Exploratory analyses revealed a clear pattern of results in males, where Parkinson’s disease was associated with the highest autistic traits, followed by the other motor disorders, and then by the typically ageing group. No such pattern was observed in females. These results are not explained by differences in language or age or reporter effects. This new evidence suggests a sex-specific overlap between these conditions and highlights the need for accounting for elevated autistic features in planning support for males with Parkinson’s disease and other movement disorders.Lay AbstractPeople with autism are three times more likely than non-autistic people to develop Parkinson’s disease in later life, and some of the same genetic variants contribute to risks for both these conditions. Although Parkinson’s disease is more common in people with autism, is autism correspondingly more common in people with Parkinson’s disease? Or what about autistic patterns of thought and behaviour, even in Parkinson’s patients who are not also diagnosed, or diagnosable, with autism itself? We surveyed such autistic traits in three groups of older people: Parkinson’s patients, patients with other neurological disorders of movement and those without any neurological or movement disorder or condition. Men with Parkinson’s disease and men with non-parkinsonian motor disorders had more autistic traits than normal. Women with Parkinson’s or other motor disorders, on the other hand, did not differ from women without any motor disorder. This was true no matter in which of the three languages surveys were given, and no matter whether it was patients themselves or their caregivers who completed the survey. Some underlying genetic or other biological shared factors might increase autistic traits not only in Parkinson’s disease but also in some of the other motor disorders represented in this study’s comparison group, for example, essential tremor. Conversely, Parkinson’s disease might not be the only motor disorder to which people with autism stand at heightened risk. Assessment of autistic traits should be considered as part of care planning for people with Parkinson’s disease or other motor disorders.

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6. Fietz J, Auer G, Plener P, Poustka L, Konicar L. Empathy and event related potentials before and after EEG based neurofeedback training in autistic adolescents. Sci Rep. 2025; 15(1): 30824.

Autism Spectrum Disorder (ASD) is often characterized by deficits in emotion regulation and empathic abilities, potentially linked to alterations in prefrontal brain regions. This randomized, controlled clinical trial examines the efficacy of slow cortical potential neurofeedback training, specifically targeting these prefrontal areas, in improving emotion regulation and empathy among children and adolescents with ASD. The study involved 41 participants, with 21 undergoing slow cortical potential training and 20 receiving treatment as usual. All participants were allowed to continue usual care in progress, if it was kept stable. Emotional processing was evaluated using an adapted and extended version of the Multifaceted Empathy Test, alongside electroencephalography assessments focusing on event-related potentials, including N170, LPP, and P300 components. The main findings indicate a significant group × time interaction in P300 latency, with shorter latencies in the SCP neurofeedback group and longer latencies in controls, though post hoc tests were not significant. A trend toward reduced P300 amplitude in the experimental group suggests possible modulation of attentional processing. Additionally, changes in a late component of LPP amplitude were linked to reaction time in processing positive emotions, with increases associated with slower responses and decreases with faster responses. These results suggest slow cortical potential neurofeedback training may influence cognitive efficiency and emotional processing in autistic individuals. While promising, further research is needed to confirm these findings and optimize neurofeedback protocols for this population.

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7. Isaev DY, Major S, Carpenter KLH, Grapel J, Chang Z, Di Martino M, Carlson D, Dawson G, Sapiro G. Use of computer vision analysis for labeling inattention periods in EEG recordings with visual stimuli. Sci Rep. 2025; 15(1): 30963.

Electroencephalography (EEG) recordings with visual stimuli require detailed coding to determine the periods of participant’s attention. Here we propose to use a supervised machine learning model and off-the-shelf video cameras only. We extract computer vision-based features such as head pose, gaze, and face landmarks from the video of the participant, and train the machine learning model (multi-layer perceptron) on an initial dataset, then adapt it with a small subset of data from a new participant. Using a sample size of 23 autistic children with and without co-occurring ADHD (attention-deficit/hyperactivity disorder) aged 49-95 months, and training on additional 2560 labeled frames (equivalent to 85.3 s of the video) of a new participant, the median area under the receiver operating characteristic curve for inattention detection was 0.989 (IQR 0.984-0.993) and the median inter-rater reliability (Cohen’s kappa) with a trained human annotator was 0.888. Agreement with human annotations for nine participants was in the 0.616-0.944 range. Our results demonstrate the feasibility of automatic tools to detect inattention during EEG recordings, and its potential to reduce the subjectivity and time burden of human attention coding. The tool for model adaptation and visualization of the computer vision features is made publicly available to the research community.

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8. Karimzadeh P, Kachuei M, Najmabadi H, Keramatipour M, Rezazadeh M, Tasharrofi B, KamaliTabar F. BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients. Ann Med Surg (Lond). 2025; 87(7): 4046-52.

INTRODUCTION: Mutations in the branched-chain keto-acid dehydrogenase kinase gene (BCKDK), leading to low plasma branched-chain amino acids (BCAAs) levels, have been reported as a contributor to comorbid intellectual disability, autism, epilepsy, and neurodevelopmental delay (NDD). Due to the rarity of knowledge about these mutations, the current case series aims to introduce four confirmed cases. METHODS: This case series study analyzed children from a neurometabolic clinic. Social and adaptive functions were assessed using the vineland social maturity scale (VSMS). Whole exome sequencing (WES) identified genetic variants filtered using population databases. Candidate variants were confirmed through Sanger sequencing and interpreted based on ACMG guidelines. RESULTS: Four children of unrelated consanguineous families suffering from global NDD and autism were referred to our center. Neuroimaging assessments revealed negligible findings; thus, metabolic tests were sent, in which BCAAs were lower than normal limits. Therefore, genetic testing was done, and genetic variants compatible with BCKDK deficiency were detected. By initiating a BCAAs-rich regimen, the patients had significant improvements in psychomotor and speech development. CONCLUSION: The diagnosis of BCKDK deficiency should be suspected in patients with NDD and autism, and BCAA supplementation should be initiated as soon as diagnosis confirmation to prevent irreversible brain damage. The results emphasize that early diagnosis and dietary intervention by regulating plasma BCAA levels lead to the prevention of irreversible neurodevelopmental implications.

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9. Lampinen LA, Singer J, Wang X, VanHook B, Wilkinson E, Bal VH. Self-reported strengths and talents of autistic adults. Autism. 2025: 13623613251364361.

Many adults express dissatisfaction with the autism diagnostic process, and concerns have been cited regarding the lack of neurodiversity-affirming assessment methods. In part, this is due to instruments framing behaviors as symptoms causing impairment, overlooking potential benefits. Systematically measuring strengths and talents during assessment may inform diagnosis and support planning in a more neurodiversity-affirming manner. Historically, research has relied on caregiver-reported strengths; more information on self-reported strengths is needed to inform self-report instrument development and assessment practices. Participants included 127 legally independent autistic adults recruited primarily through SPARK Research Match, who completed open-ended questions regarding strengths and talents. Qualitative content analysis identified themes of strengths, and associations between strengths and gender, age, age of diagnosis, and education level were examined. Autistic and nonautistic team members collaborated on qualitative coding, data interpretation, and manuscript writing. Themes emerging from the qualitative responses included Cognitive/Executive Functioning (61%), Character Strengths (55%), Creative/Artistic (52%), Academic (33%), and Interpersonal (30%). Overlap between strength domains and Diagnostic and Statistical Manual of Mental Disorders (5th ed.) autism diagnostic criteria suggest that more nuance is needed in how we conceptualize autism, considering both strengths and challenges. Domains of strengths identified in this study can be used to inform measure development and strengths-based assessment and support planning.Lay AbstractAutism research and testing has had a heavy focus on difficulties, without much attention to the strengths of autistic people. Most surveys ask about challenges associated with autism, but do not consider the positive qualities and talents of autistic adults. Previous research on strengths in autistic individuals has mostly been based on what parents report, so we do not know as much about how autistic adults see their own strengths. We asked 127 autistic adults to tell us about their strengths and talents in an online survey. Both autistic and nonautistic team members worked together to group answers by similar themes or categories. We explained categories and compared how they were related to participants’ characteristics. Autistic adults shared many different strengths, including skills in problem-solving, character, creativity, academics, and getting along with others. Some strengths were more likely to be mentioned by people of different ages, education levels, or genders. The results show that autistic adults have many different strengths. It is important for researchers, doctors, and the public to recognize both the strengths and challenges of autistic adults to create a more balanced view of autism. Thinking about these strengths when diagnosing autism and planning supports can improve the well-being of autistic adults, reduce stigma, and help people understand autism in a more balanced way.

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10. Liu DF, Zhang YC, Li JD. [Circadian rhythm disturbances and neurodevelopmental disorders]. Sheng Li Xue Bao. 2025; 77(4): 678-88.

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual developmental disorder (IDD), are highly prevalent and lack effective treatments, posing significant health challenges. These disorders are frequently comorbid with disruptions in sleep rhythms, and sleep-related indicators are often used to assess disease severity and treatment efficacy. Recent evidence has highlighted the crucial roles of circadian rhythm disturbances and circadian clock gene mutations in the pathogenesis of NDDs. This review focuses on the mechanisms by which circadian rhythm disruptions and circadian clock gene mutations contribute to cognitive, behavioral, and emotional disorders associated with NDDs, particularly through the dysregulation of dopamine system. Additionally, we discussed the potential of targeting the circadian system as novel therapeutic strategies for the treatment of NDDs.

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11. Morag SB, Itzkovich C, Kurolap A, Shohat M, Durr A, Agathe JS, Bertrand J, Koifman A, Alkelai A, Shuldiner AR, Mory A, Harel T, Mor-Shaked H, Shalata A, Paperna T, Feldman HB, Kakun RR, Kornitzer D, Salzberg A, Weiss K. A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis. Genet Med. 2025: 101569.

PURPOSE: Hereditary spastic paraparesis (HSP) is a genetically diverse group of Mendelian disorders characterized by length-dependent axonal degeneration. Microtubule dysfunction is a known mechanism in HSP that impairs axonal dynamics. TBCB encodes Tubulin folding co-factor B (TBCB), which, along with TBCE, regulates αβ-heterodimer dynamics and neuronal axonal growth. Here, we describe a new form of complicated HSP caused by a founder variant in TBCB. METHODS: Exome sequencing revealed a homozygous c.589T>A p.(Tyr197Asn) variant in TBCB in a cohort of ten individuals assembled through genematching tools. Protein function was assessed using Saccharomyces cerevisiae orthologue ALF1, and a CRISPR-Cas9-generated homologous mutant in Drosophila melanogaster. TBCB expression and localization were examined in fibroblasts using western blot and immunofluorescence. RESULTS: Participants displayed late childhood onset spastic paraparesis, global developmental delay and autism spectrum. TBCB protein levels were reduced in affected fibroblasts. The ALF1 mutant in yeast increased benomyl sensitivity, resembling a loss-of-function phenotype. In Drosophila melanogaster, the homologous mutant led to reduced survival and impaired climbing ability. CONCLUSIONS: We describe a novel neurodevelopmental disorder with spastic paraparesis and a high carrier rate in the Ashkenazi Jewish population. Our results indicate that TBCB has a vital role in CNS development and potentially in axonal function in humans.

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12. Rosenbaum P. Viewpoint: childhood developmental disability: recognising the primary role of the family. BMJ Paediatr Open. 2025; 9(1).

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13. Rudroff T. Theoretical Framework and Methodological Approach for Investigating Potential Associations Between Long COVID and Autism Spectrum Disorder Prevalence. NeuroSci. 2025; 6(3).

This perspective paper proposes a theoretical framework for investigating potential associations between Long COVID and rising autism spectrum disorder (ASD) prevalence through established epidemiological methodologies. I propose examining temporal correlations, biological mechanisms, and rigorous methodological approaches, including Mendelian randomization, animal models, and evidence-based analyses, that could distinguish association from causation. The proposed framework recognizes autism as neurodiversity while suggesting investigation of environmental factors that may influence expression of genetic predispositions. Hypothesized key mechanisms include neuroinflammation, cytokine alterations, and immune dysfunction. I emphasize the critical distinction between demonstrating statistical associations and establishing causal influence, proposing specific experimental designs that could test causality. This paper presents conceptual frameworks requiring future empirical validation and does not include original data analysis.

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14. Srivarathan A, Bradford A, Shearkhani S, Heimlich L, Jefferson S, Miller KE, Smith K, Haskell H, Giardina TD. Bridging diagnostic safety and mental health: a systematic review highlighting inequities in autism spectrum disorder diagnosis. BMJ Qual Saf. 2025.

INTRODUCTION: There is increased recognition that diagnostic errors disproportionately affect marginalised and underserved patient populations in the USA. However, evidence on diagnostic inequities in mental disorders is sparse and not well integrated into the overall diagnostic safety literature. OBJECTIVE: We systematically reviewed and narratively synthesised evidence on inequities in diagnosis of mental disorders, guided by the Diagnostic Process Framework developed by The National Academies of Sciences, Engineering, and Medicine. METHODS: We conducted a systematic review and a narrative synthesis. Medline, Embase, PsycInfo and CINAHL were searched for studies published between 2015 and 2024. Studies were eligible if they reported on inequities in the diagnosis of mental disorders and applied a quantitative, qualitative or mixed-methods design. Studies had to be peer reviewed, US based and published in English. The Mixed-Methods Appraisal Tool was used for quality appraisal. Data were analysed with a descriptive intent, and inequities were mapped into the diagnostic process. RESULTS: 20 studies of varying methodological quality were included. Though not the initial focus, autism spectrum disorder (ASD) emerged as the most studied mental disorder (n=17). Of the diagnostic errors identified, most fell into the category of delayed diagnosis. 11 factors emerged as contributors to diagnostic inequities. Limited health literacy among patients and caregivers was the leading cause of diagnostic error in symptom recognition. Insurance coverage issues delayed patient engagement with the healthcare system. Provider bias during clinical history-taking and interviewing was seen as a key cause of delays and misdiagnoses. Within diagnostic testing and interpretation, culturally inequivalent assessment measures might cause misdiagnosis and delayed diagnosis for Black/African American and Hispanic/Latino patients. The use of medical jargon and lack of qualified language interpreters during communicating the diagnosis were associated with diagnostic errors impacting patients with limited health literacy and low English language proficiency. CONCLUSIONS: Diagnostic inequities in ASD and other mental disorders persist across US patient populations. Multiple factors such as parental health literacy, provider bias and limited access interact and impact the diagnostic process. Addressing these interconnected barriers is essential to ensure timely, accurate and equitable care. PROSPERO REGISTRATION NUMBER: CRD42024581271.

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15. Turner JM, Byrge L, Richardson H, Galdi P, Kennedy DP, Kliemann D. Social inference brain networks in autistic adults during movie-viewing: functional specialization and heterogeneity. Mol Autism. 2025; 16(1): 42.

BACKGROUND: Difficulty in social inferences is a core feature in autism spectrum disorders (ASD). On the behavioral level, it remains unclear whether reasoning about others’ mental states (Theory of Mind, ToM) and empathic responses to others’ physical states may be similarly or differentially affected in autism. On the neural level, these inferences typically engage distinct brain networks (ToM versus Pain networks), but their functional specialization remains not well understood in autism. This study aimed to investigate the functional specialization, heterogeneity, and brain-behavior relationships of the ToM and Pain networks in autistic compared to neurotypical (NT) participants. We hypothesized differential functional network specialization (i.e., functional connectivity), increased heterogeneity, and less typical network responses specifically in the ToM network, with relatively similar responses in the Pain network in ASD. METHODS: Using functional magnetic resonance imaging (fMRI), we investigated neural responses in 107 adults (autistic: 34 (female = 11), NT: 73 (female = 23); matched for age, intellectual functioning, sex, motion) while they passively watched a short, animated movie including events that evoke reasoning about characters’ mental states and bodily sensations. Preregistered analyses included regression models to assess inter-region correlation of within- and across-network connectivity, inter-subject correlation to quantify similarity to the average neurotypical, as well as to within- and across-group timecourse responses, and brain-behavior relationships relevant for social inferences. RESULTS: Functional specialization of ToM and Pain networks were overall intact, with distinct network responses in both groups. The autistic group showed differential ToM network responses and reduced similarity to the average typical response for both networks. Network responses were more idiosyncratic and heterogenous in the autistic group. Brain-behavior relationships differed between groups for ToM behavior only. LIMITATIONS: Effects between groups were overall small. Samples were acquired across two sites, yet the sample size restricts subgroup analyses that may further inform autistic heterogeneity and limits generalizability. CONCLUSIONS: We found weak evidence for greater differential responses in brain networks underlying ToM inferences than those involved in empathic responses in autism, consistent with a prior empathy imbalance hypothesis. We outline suggestions for replicating, generalizing and extending these results in future research.

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16. Ye F, Luan J, Hu P, Yang A, Liu J, Xu M, Lv K, Wang K, Wang Y, Shu N, Ouyang G, Yu H, Wang Y, Yuan Z, Li S, Xu P, Zhang Q, Ma G. Cerebral blood flow changes and their genetic mechanisms in autism spectrum disorder: a combined neuroimaging and transcriptome study. Eur Arch Psychiatry Clin Neurosci. 2025.

BACKGROUND: Autism spectrum disorder (ASD), a disorder with high heritability, is linked to abnormal cerebral blood flow (CBF) in patients. The present study focuses on exploring the genetic mechanisms behind CBF in ASD. METHODS: A total of 34 children with ASD and 31 typically developing (TD) children were examined to find the inter – group differences in CBF. In combination with the Allen Human Brain Atlas (AHBA), an analysis of transcriptome – neuroimaging spatial association was carried out. This was done to identify genes whose expression was related to CBF changes in ASD, and then gene function characteristics were analyzed. RESULTS: In comparison with TD children, children with ASD had elevated CBF values in the frontal pole, temporal pole, and thalamus, while having lower CBF values in the superior parietal and caudal middle frontal regions. There were 2,759 genes whose expression was spatially correlated with the CBF changes. Functions such as « Inorganic ion transmembrane transport », « adrenergic signaling in cardiomyocytes », and « neuronal system » were significantly enriched. Significantly down – weighted genes had significant correlations with gamma – aminobutyric acid in the AHBA – seq and DrONc – seq databases. CONCLUSION: The transcription – neuroimaging associations arising from cerebral perfusion redistribution in ASD are supplemented in an additional way, which helps in enhancing the understanding of the ASD brain.

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17. Yoon CD, Meadan H, Xia Y, Shic F. Association Between Joint Attention and Autism Traits in Young Adults: A Gaze-Contingent Eye-Tracking Study. Res Autism. 2025; 125.

BACKGROUND: The Interactive Eye Tracking for Joint Attention (IET-JA), a child-focused battery consisting of video-format gaze-contingent eye-tracking tasks featuring a human communication partner, was developed to address gaps in eye-tracking research on JA in autistic children. Although JA research has often concentrated on younger populations due to its early developmental significance, studies indicate that JA difficulties associated with autism persist into adulthood, highlighting the value of examining these traits later in life. Thus, this study adapted the IET-JA for adolescents and adults (IET-JA-A) by incorporating additional attentional demands to introduce controlled attentional variations and explore whether these interactive eye-tracking measures of JA associate with autism traits in adulthood. METHODS: A total of 81 young adults (M (age) = 19.32 years, range = 18-24 years), with a broad range of autism traits, completed the IET-JA-A. Generalized and linear mixed modeling were employed to address the aim. RESULTS: The IET-JA-A measures of responding to joint attention and initiating joint attention to comment/reference (protodeclarative) were associated with autism traits, while the IET-JA-A measures of initiating joint attention to request (protoimperative) were not associated with autism traits. CONCLUSIONS: Findings advance our understanding of JA linked with autism traits in adulthood and showcase the feasibility of interactive eye-tracking methodologies in JA research. Limitations and implications for research are discussed.

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18. Zamstein O, Wainstock T, Sheiner E. Evaluating the impact of labor induction on autism spectrum disorder risk. Arch Gynecol Obstet. 2025.

PURPOSE: Significant effort has been made in recent years to identify environmental factors-particularly perinatal exposures-that contribute to the development of autism spectrum disorder (ASD), yet many proposed associations remain inconsistent and inconclusive. Given the common use of labor induction for both medical indications and maternal preference, we aimed to investigate its potential association with ASD development, while accounting for synergistic factors that may influence its onset. METHODS: A population-based cohort study was conducted at a tertiary referral center, focusing on singleton births. The study aimed to compare the occurrence of ASD in children, considering both hospital and community-based diagnoses, in relation to whether labor was induced (using mechanical cervical ripening or prostaglandins, with or without oxytocin) or began spontaneously. A Kaplan-Meier survival curve was employed to assess the cumulative incidence of ASD, and a Cox proportional hazards model was used to account for confounding variables. RESULTS: Among 115,081 births, 13,071 (11.4%) were labor induced, with the remainder beginning spontaneously. Pregnancy complications, such as gestational diabetes mellitus, preeclampsia or eclampsia, and non-reassuring fetal heart rate patterns, were significantly more common in the labor induction group (p<0.001 for all). During follow-up, 767 children were diagnosed with ASD: 1.0% in the labor induction group and 0.6% in the spontaneous labor onset group (p<0.001). The Kaplan-Meier analysis showed a significantly higher cumulative hazard for ASD diagnosis in the labor induction group (log-rank p-value <0.001). However, after adjusting for maternal and perinatal factors such as maternal age, cesarean delivery, ethnicity, and gestational conditions, no significant association was found between labor induction and ASD risk (adjusted HR = 1.21, 95% CI 0.99-1.47, p = 0.063). CONCLUSION: Labor induction was associated with a higher ASD incidence but not as an independent risk factor after adjusting for maternal and perinatal factors.

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19. Zhang J, Li YX, Huang Q, Yuan Y, Chen JY, Yang FW, Yang L, Liu LY, Yu YC. Bcl11a deficiency in cerebellar Purkinje cells causes ataxia and autistic-like behavior by altering Vav3. Mol Psychiatry. 2025.

BCL11A encodes a transcription factor essential for brain development, with pathogenic variants causing intellectual disability, autism spectrum disorder (ASD), microcephaly, hypotonia, and behavioral abnormalities. While clinical studies have identified cerebellar pathology in patients with BCL11A variants, the specific roles of this gene in cerebellar function and its relationship to clinical symptoms remain unclear. In this study, we demonstrate that Bcl11a is predominantly expressed in Purkinje cells (PCs) of both the developing and adult mouse cerebellum. Conditional deletion of Bcl11a in PCs leads to impaired PC survival, disrupts dendritic morphology, reduces spine density, and results in ataxia, motor learning deficits, and autistic-like behaviors. Electrophysiological analyses reveal that Bcl11a-deficient PCs exhibit decreased frequency and regularity of spontaneous firing and reduced excitatory synaptic inputs from both parallel and climbing fibers, while maintaining normal intrinsic excitability and inhibitory synaptic inputs. Moreover, we identify Vav3 (guanosine nucleotide exchange factor 3) as a downstream target of Bcl11a in PCs and demonstrate that Vav3 overexpression partially rescues both PC dysfunction and abnormal motor and social behaviors in Bcl11a-deficient mice. Together, these findings establish Bcl11a’s critical role in PC function and provide mechanistic insight into how BCL11A mutations contribute to cerebellar dysfunction in psychiatric disorders such as ASD.

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