1. Atlam ES, Aljuhani KO, Gad I, Abdelrahim EM, Atwa AEM, Ahmed A. Automated identification of autism spectrum disorder from facial images using explainable deep learning models. Sci Rep;2025 (Jul 22);15(1):26682.

The early and accurate detection of autism spectrum disorder (ASD) is crucial for timely interventions that can significantly improve the quality of life for individuals on the spectrum. Despite the importance of early diagnosis, current ASD diagnostic methods face several challenges, including being time-consuming, subjective, and requiring specialized expertise, which limits their accessibility and scalability. Addressing these limitations, automated ASD detection through facial image analysis offers a non-invasive, efficient, and scalable alternative. However, existing machine learning and deep learning techniques frequently face challenges such as limited generalizability, inadequate interpretability, and insufficient performance on diverse datasets. This study introduces an effective deep learning framework for automated ASD detection that leverages pre-trained convolutional neural networks (CNNs), including VGG16, VGG19, InceptionV3, VGGFace, and MobileNet. The proposed framework integrates advanced preprocessing techniques, data augmentation, and Explainable AI (XAI) methods, such as Local Interpretable Model-agnostic Explanations (LIME), to enhance both accuracy and interpretability. The experimental results demonstrate the effectiveness of the proposed framework, with the VGG19 model achieving an accuracy of 98.2%, outperforming many state-of-the-art methods. This work represents a significant step forward in automated ASD diagnostics, offering a reliable, efficient, and interpretable solution that can aid clinicians in making timely and accurate diagnoses.

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2. Bortolozzo-Gleich MH, Bouisset G, Geng L, Pino AR, Nomura Y, Han S, Li Y, Leroy F. Impaired vasopressin neuromodulation of the lateral septum leads to social behavior deficits in Shank3B(+/-) male mice. Nat Commun;2025 (Jul 23);16(1):6783.

The neuropeptide arginine-vasopressin (AVP) has been repeatedly associated with the autism spectrum disorder (ASD) but the underlying mechanisms remain unclear. As Shank3B(+/-) male mice, a model of ASD, exhibit deficits in sociability and social aggression, we focused on the lateral septum (LS), a brain region involved in the regulation of motivated behaviors and observed reduced AVP inputs from the bed nucleus of the stria terminalis (BNST) to LS. Manipulating AVP release from the BNST to LS of wild-type male mice, we found that AVP promotes both sociability and social aggression. Blocking the vasopressin receptor 1a (AVPR1a) in LS impaired sociability, while blocking the receptor 1b (AVPR1b) disrupted social aggression. Consequently, selective activation of AVPR1a or AVPR1b rescued the respective behavioral deficits in Shank3B(+/-) male mice. These findings reveal that AVP release in LS modulates two distinct social behaviors via different receptors and highlight a possible strategy to rescue sociability during ASD.

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3. Bougoure M, Zhuang S, Brett JD, Maybery MT, English MC, Tan DW, Magiati I. Measuring autistic burnout: A psychometric validation of the AASPIRE Autistic Burnout Measure in autistic adults. Autism;2025 (Jul 23):13623613251355255.

Autistic burnout is characterised by extreme exhaustion, loss of functioning, and reduced tolerance to stimulus, resulting from the cumulative stress associated with navigating a predominantly non-autistic world. To date, in mostly qualitative studies, autistic burnout has been associated with poorer mental health, well-being and life outcomes in autistic adults. To comprehensively investigate autistic burnout, identify affected individuals and evaluate supports, a valid and reliable measure is required. The current study explored the psychometric properties of the AASPIRE Autistic Burnout Measure. The Autistic Burnout Measure and other related measures (camouflaging, mental health) were completed online by 379 autistic adults. The Autistic Burnout Measure demonstrated a predominantly unidimensional structure, with high loadings across all 27 items, excellent internal consistency (ω = 0.98), and reasonable consistency over 12 months (r = 0.59). It also showed sound construct validity, with medium-to-large positive correlations with autistic traits, camouflaging, occupational burnout, depression and anxiety. The Autistic Burnout Measure also effectively differentiated between autistic participants who reported currently experiencing autistic burnout and those who were not (area under the curve = 0.92; 95% confidence interval = [0.86, 0.97]). Our findings indicate that the Autistic Burnout Measure has promising psychometric properties and may be a useful measure in future autism research and practice. However, further validation is necessary to determine whether the unidimensional structure holds across diverse samples.Lay abstractAutistic people have described autistic burnout as an intense experience of physical, emotional, mental and social exhaustion impacting their ability to complete everyday tasks and contributing to poorer well-being. To identify and measure autistic burnout in practice and research, we need a self-report measure that gives accurate and consistent results. In this study, 379 autistic adults completed a recently developed measure of autistic burnout online, the AASPIRE Autistic Burnout Measure. We analysed their ratings to determine whether the measure is reliable (i.e. ratings are consistent), valid (i.e. the tool measures what it says it measures), correctly identifies those currently experiencing burnout, and is associated with other relevant experiences, such as camouflaging, anxiety and depression. The Autistic Burnout Measure was found to be reliable and valid. Autistic adults reporting greater autistic burnout also reported more camouflaging, autistic traits and greater general burnout, depression, and anxiety. The Autistic Burnout Measure was accurate in identifying individuals who reported currently experiencing autistic burnout and those who did not. Overall, our findings suggest that the Autistic Burnout Measure may be suitable for use in research and practice to identify and better understand experiences of autistic burnout.

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4. Briones-Valdivieso C, Córdova F, Kaune H, Montiel JF. Hormonal and sex-specific functional genomic pathways of genetic risk candidates in autism spectrum disorder: evidence of sex-over-chance effects. Horm Behav;2025 (Jul 23);174:105795.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by substantial sex differences in prevalence, with males more frequently diagnosed than females. While genetic and environmental factors contribute to ASD, there is growing evidence that sex-specific endocrine pathways, particularly those involving sex hormones, may play a critical role in ASD etiology. This study aimed to investigate the functional network robustness and annotations of autism spectrum disorder genetic risk candidates (ASD-GRCs), with a focus on endocrine pathways and their impact on network connectivity. Using data from the Simon’s Foundation Autism Research Initiative (SFARI) and functional network analysis via the STRING database, we assessed the connectivity of ASD-related genes by randomly subtracting sets of genes from the whole ASD gene network in subsets associated with androgen-testosterone, estrogen-progesterone, and other hormone pathways. Our findings reveal a significant « sex-over-chance » association, with androgen- and estrogen-related gene subsets showing marked connectivity within the ASD gene network compared to non-sex hormone genes. These results suggest that sex hormones may uniquely influence ASD-related neural development, providing support for the « female protective effect » and the androgen-driven model of ASD. Additional analyses of other hormonal pathways, such as oxytocin and cortisol, showed a lower connectivity impact, reinforcing the distinctive role of sex hormones in ASD. This study highlights the potential of endocrine-focused genetic analysis in understanding ASD, emphasizing sex-specific biological mechanisms that may inform future diagnostic and therapeutic strategies.

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5. Croyé MA, Freilinger P, Jürgenlimke H, Domes G, Meyer J. Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome. J Neurodev Disord;2025 (Jul 23);17(1):41.

BACKGROUND: Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on children, the social and psychological profile of adult women with TXS remains understudied. This study aims to provide a comprehensive assessment of these aspects in adult women with TXS compared to matched controls. METHODS: A cohort of 44 women with TXS (mean age 30.5 years) was compared to 50 age- and education-matched controls (mean age 29.7 years). Standardized assessments measured verbal IQ, psychological distress, chronic stress, emotion regulation, coping mechanisms, social anxiety, empathy, autistic traits, and personality traits. Group comparisons were conducted using ANOVAs and MANOVAs, with additional χ² tests for categorical variables. RESULTS: Depression and trait anxiety did not significantly differ between groups, though both groups exhibited notably high scores. However, a greater number of individuals in the TXS group reported elevated social anxiety and autistic traits, and reduced empathy. Moreover, there were indications of increased self-reported social tensions, personal distress, and somatization within the TXS group. No significant differences were found in personality traits, verbal IQ, chronic stress levels, and emotion regulation. Additionally, TXS participants tended to rely less on the maladaptive coping strategy of alcohol and cigarette consumption. CONCLUSION: Our findings underscore autistic traits, social anxiety, and reduced empathy as significant challenges for adult women with TXS. While cognitive and emotional characteristics were largely comparable to those of age- and education-matched controls, the heightened social difficulties suggest a potential benefit of targeted interventions, such as social skills training, to support affected individuals. Longitudinal studies are essential to understand the long-term progression of these challenges and to develop effective therapeutic strategies.

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6. D’Ambrosio S, Gualandris D, Caputo D, Donati F, Mayeli A, Del Giudice R, Ferrarelli F, Mingarelli A, Raviglione F, Canevini MP, D’Agostino A. Sleep Spindle Abnormalities in Preschool Children With Autism Spectrum Disability: Insights From Nap Polysomnography. Autism Res;2025 (Jul 23)

Sigma power and sleep spindles are key elements of Non-Rapid Eye Movement (NREM) sleep. They reflect anatomical and physiological properties of brain circuits, are linked with various behavioral outcomes in typically development (TD) children, and undergo significant modifications during development. Furthermore, recent studies have highlighted the potential of NREM sigma power and sleep spindles as early neurophysiological markers for autism spectrum disability (ASD). Here, we conducted polysomnography (PSG)/EEG recordings during afternoon naps on 50 children aged between 2 and 6 years, diagnosed with ASD or TD. EEG recordings from 19 scalp leads were analyzed, focusing on sigma power and sleep spindle parameters. EEG analyses revealed significant differences in power spectral density between ASD and TD children, particularly in the sigma band and adjacent alpha and beta bands, with increased power localized to anterior EEG leads in ASD children. Higher spindle amplitude and integrated spindle activity (ISA) were found in the ASD group, especially in frontal regions. Additional frequency-specific analyses (10-12 Hz, 12-14 Hz, 14-16 Hz) confirmed significant differences in spindle amplitude and distribution patterns, emphasizing the role of brain regions that are detectable from anterior EEG leads in ASD-related sleep abnormalities. No significant differences were found in spindle density, duration, or frequency outside specific clusters. These findings indicate that some sleep spindle parameters, particularly in frontal areas, are altered in ASD. The study highlights the feasibility of using afternoon nap PSG as a practical and effective method to detect these abnormalities in clinical settings. Future research should investigate the developmental trajectory of spindles in ASD and their potential role as neurophysiological biomarkers, offering valuable insights for diagnosis and prognosis.

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7. Demir U. Evaluation of ocular findings in children with autism spectrum disorder: Observational study. Medicine (Baltimore);2025 (Jul 18);104(29):e43398.

This study aims to emphasize the significance of ophthalmologic examination in children with autism spectrum disorder (ASD) and evaluate the ophthalmologic findings and their frequency. We retrospectively analyzed the files of 40 boys and 20 girls aged 4 to 18. In cycloplegic spherical equivalents, -0.50 diopter (D) or more myopia, ≥+2.0D hyperopia and ≥±1D astigmatism in cylindrical equivalents were accepted. Patients with ≥1D difference in spherical or cylindrical equivalents between the 2 eyes were considered anisometropic. Amblyopia was defined as a best-corrected visual acuity ≤0.8 with Snellen chart and a difference of at least 2 lines between both eyes. Children were grouped as myopia, hyperopia, myopia astigmatism, hyperopia astigmatism, mixed astigmatism, emmetrope and anisometropia according to refractive errors. Strabismus was classified as esotropia, exotropia and orthophoric. Forty (66.66%) of the patients with ASD were boys and 20 (33.33%) were girls. Emmetropia was found in 38.33%, myopia in 3.33%, hyperopia in 21.66%, myopia astigmatism in 16.66%, hyperopia astigmatism in 14.99%, mixed astigmatism in 1.66%, anisometropia in 6.66%, amblyopia in 6.66%, esotropia in 9.99%, exotropia in 11.66%, ptosis in 4.99%, and nystagmus in 1.66%. There was no statistically significant difference in the findings except hyperopia according to gender (P > .05). Hyperopia (P = .022) showed a statistically significant difference according to gender (P < .05). Children with ASD have significant ophthalmological abnormalities. Early diagnosis and treatment of refractive errors and other eye problems may contribute to these children's psychomotor and social development.

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8. Farhoomand F, Kaban T, Kecheliev V, Delaney KR. Impaired persistence of cortical sensory adaptation following repetitive tactile stimulation in the hindlimb somatosensory cortex of Rett syndrome mice. Neuroscience;2025 (Jul 23);579:165-178.

Reduced response to repeated stimulation (RS) is a signature feature of sensory systems. In this study we examined cortical sensory responses to brief tactile stimulation of the foot/ankle before, during and after periods of RS in young male, young and old female mice. We compared cortical activity in wild-type (WT) mice to mice with mutation in Mecp2 that causes the neurodevelopmental disorder Rett syndrome (RTT). Intrinsic optical signal imaging (IOS) and intracortical local field potential (LFP) measurements revealed reduced cortical responses to test stimuli on the order of 40-50% after 15-min periods of RS. The time-course and magnitude of reduced IOS and LFP to tactile test-stimuli were similar in WT and RTT mice before and during application of RS. However, after cessation of RS, cortical responses remained persistently below pre-stimulation in WT while RTT mice had significantly more rapid and in some cases complete recovery with an hour of rest. LFP responses to each stimulus in a 7-stimulus test-train characteristically decline. Examining the buildup of this adaptation during test-trains revealed that while the response to the first stimulus in the test-train was generally consistent, responses to successive stimuli in the test-train declined more rapidly after application of RS. This increased adaptation during test-trains persisted in WT mice and reversed more rapidly in RTT mice suggesting that persistent cortical sensory adaptation results from enhancement of processes responsible for short-term adaptation. The lack of persistent cortical sensory adaptation in RTT mice may reflect reduced long-term plasticity within central somatosensory processing circuits.

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9. Goad BS, Rodda J, Allen M, Bamborschke D, Overmars I, Kerr RJ, Bushlin I, Chopra S, Coorg R, Dabscheck G, Freeman JL, Mackay MT, Devinsky O, Guerrini R, Parrini E, Bölsterli B, Hughes I, Huh LL, Kamate M, Kunz AB, Melikishvili G, Miteff C, Myers KA, Olson HE, Poduri A, Pillai S, Riney CK, Sinclair A, Calvert S, Reynolds TQ, Martinez AR, Russo A, Sadleir LG, Sanchez-Albisua I, Sartori S, Shea S, Smith-Hicks CL, Spooner CG, Thomas RH, Ardern-Holmes SL, Webster RI, Valeriani M, Veggiotti P, Masnada S, Ware TL, Yoong M, Berecki G, De Dominicis A, Specchio N, Trivisano M, Møller RS, Wolff M, Fazeli W, Scheffer I, Howell KB. Development and Adaptive Function in Individuals With SCN2A-Related Disorders. Neurology;2025 (Aug 12);105(3):e213868.

BACKGROUND AND OBJECTIVES: Developmental impairment is common in individuals with SCN2A-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function. METHODS: This was a mixed retrospective cross-sectional study of individuals from an international SCN2A Natural History Study, who had neurologic/neurodevelopmental disorders due to an SCN2A variant. Individuals with SCN2A intragenic variants were grouped into early-onset (EO) and late-onset (LO) phenotypic groups; those with SCN2A-containing 2q24.3 copy number variants (CNVs) were considered separately. We collected medical and developmental history from parents/caregivers and medical records. Adaptive function and behavior were characterized using functional classification system levels and Vineland Adaptive Behavior Scales-3 (VABS-3) Parent/Caregiver Form. We repeated analyses on individuals with variants known to result in gain-of-function (GOF, typically EO phenotypes) or loss-of-function (LOF, typically LO phenotypes). RESULTS: A total of 100 individuals (age 0.1-21.9 years, 39% female) were studied. Phenotypic groups were EO (n = 44), LO (n = 48), and 2q24.3 CNV (n = 8). Developmental delay/intellectual disability was present in 91 of 100, and 23 of 80 individuals (29%) older than 2 years had autism spectrum disorder. Of people older than the typical age for skill attainment, 59 of 95 (62%) could sit and 48 of 88 (55%) could walk. In addition, 27 of 86 individuals (31%) spoke more than 1-5 single words, and 24 of 74 (32%) followed two-step commands. Median VABS-3 Adaptive Behavior Composite (ABC) scores were as follows: the EO phenotypic group had a score of 56 (range 21-110), the LO phenotypic group had a score of 45 (range 20-89), and 5 of 6 with a 2q24.3 CNV had an ABC score of <45. The EO phenotypic group had 3 distinct subgroups, consistent with "benign," "intermediate," and "severe" definitions previously published. The LO phenotypic group showed a continuum of severity, without distinct clusters. However, clinically relevant differences in motor function were evident when subgrouped by seizure-onset age; a lower proportion with earlier seizure onset (age <18 months) were independently ambulant than those with later onset or no seizures (5/15 [33%] vs 10/12 [83%] vs 14/15 [93%], p < 0.01). Analyses of individuals with confirmed GOF/LOF variants (n = 57) showed similar results to the EO/LO analyses. DISCUSSION: The spectrum of developmental impairments and adaptive function in SCN2A-related disorders is extremely broad. Phenotypic subgroups provide prognostic information and critically inform clinical trial design.

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10. Grahn K. Physical activity experiences among children with ADHD and ASD: a qualitative meta-synthesis literature review. Int J Qual Stud Health Well-being;2025 (Dec);20(1):2524460.

PURPOSE: The aim was to analyze and synthesize empirical research on physical activity experiences among children diagnosed with ADHD and ASD. METHODS: A qualitative meta-synthesis was conducted, including 17 articles published between 2010 and 2023. The synthesis encompasses qualitative research on the experiences of children with ADHD and ASD in organized physical activity. Data were categorized into overarching themes based on a socio-ecological model. Each overarching theme was subdivided into themes and sub-themes illustrated with extracts from each study. RESULTS: The research was conducted in several countries, with a predominance of studies from the USA and Canada. Most studies focused on children diagnosed with ASD, with boys being more frequently represented. Various intrapersonal factors were influential, with negative factors including disability-specific constraints, motor skill difficulties, and dissatisfaction with physical activity, while enjoyment of specific activities and positive attitudes towards physical activity were identified as some of the positive factors. In terms of interpersonal factors, interactions with family, friends, teammates, and coaches or teachers shaped both positive and negative experiences. CONCLUSIONS: The findings provide valuable insights into the experiences of children with ADHD and ASD in organized physical activity contexts. Key aspects identified can guide future research and initiatives aimed at including children with ADHD and ASD in organized physical activities.

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11. Hallock TM, Kelly PJA, Campagnolio A, Dysart M, Fülöp R, Kaufman I, McGiffert N, Gould-Taylor S. The healthcare experiences of LGBTQ people with intellectual and developmental disabilities in the United States: A scoping review. Soc Sci Med;2025 (Jul 17);383:118431.

Lesbian, gay, bisexual, transgender, and queer (LGBTQ) people and people with intellectual and developmental disabilities (IDD) each face multiple systems of oppression (e.g., cissexism, ableism) that produce interpersonal, institutional, and environmental barriers to accessing healthcare services. For people with intersecting LGBTQ and IDD identities, these barriers coalesce to further restrict access to healthcare, worsening quality of health and health disparities. This scoping review explores the experiences of LGBTQ people with IDD and the barriers and facilitators they encounter when accessing care within the U.S. healthcare system. Identification of barriers and facilitators can inform multi-level intervention targets including provider knowledge, skills, and attitudes and advocacy strategies for environmental and systems-level change. A registered protocol guided the search for peer-reviewed and grey literature sources published before November 24, 2024. Sources included LGBTQ people with IDD and reported on experiences accessing and navigating healthcare services. Twenty-one articles were included in the review. The Behavioral-Ecological Framework of Healthcare Access and Navigation informed mapping of findings. Articles primarily described personal and provider factors (n = 17) that impact access to care and the healthcare environment (n = 14), while fewer described social environments (n = 7). Little attention has been paid to the built environment. Barriers included patient-provider communication challenges, difficulty finding competent providers, and the complexity of navigating healthcare systems. Facilitators included supportive social networks, affirming and accommodating providers, and healthcare policies that reduce healthcare costs and offer legal protection.

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12. Kondo C, Ihara H, Ogata H, Saima S, Nakane E. Association between premenstrual syndrome or premenstrual dysphoric disorder and presence of ASD or ADHD among adolescent females: a retrospective study. Arch Womens Ment Health;2025 (Jul 23)

PURPOSE: This retrospective study aimed to investigate the association between premenstrual syndrome (PMS) or premenstrual dysphoric disorder (PMDD) and the presence of autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) in adolescent females. While PMS and PMDD are well-studied in the general population, limited research exists on their prevalence and impact in adolescent females with ASD or ADHD. METHODS: Retrospective data collection was conducted using electronic medical records, covering 290 patients aged 10-19 years. PMS severity, depressive symptoms, and autistic tendencies were assessed using standardized tools, including the Quick Inventory of Depressive Symptomatology (QIDS) for depressive symptoms, Autism-Spectrum Quotient (AQ) for autistic tendencies, and a PMDD assessment scale for PMS severity. RESULTS: The results revealed a significant association between moderate to severe PMS and ADHD (odds ratio [OR]: 2.43) as well as comorbid ASD + ADHD (OR: 3.27). In contrast, ASD alone did not exhibit a significant link to PMS severity. CONCLUSION: These findings highlight the heightened vulnerability of females with ADHD or comorbid ASD + ADHD to premenstrual psychological distress, emphasizing the importance of early detection and intervention. The study underscores the need for tailored treatment strategies addressing the unique challenges faced by this population.

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13. Langelet C, Schröder CM. [Sleep and neurodevelopment: a timely subject]. Biol Aujourdhui;2025;219(1-2):15-23.

Neurodevelopmental disorders (NDDs) include a heterogeneous group of conditions characterized by an alteration of neurodevelopmental processes leading to a significant impact on the individual’s personal, social, and/or academic functioning. Among the many comorbidities frequently associated with NDDs, sleep disturbances play a major role, affecting between 30% and 80% of concerned people. This article explores the various links between sleep and NDDs through a review of the scientific literature highlighting the most recent research in this area, with a particular focus on two neurodevelopmental disorders: autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Sleep is an essential physiological process regulated by homeostatic and circadian mechanisms, playing a crucial role in brain maturation. In children with ASD, a decrease in the activity of enzymes responsible for melatonin synthesis has been identified, leading to a melatonin production and secretion deficiency that is associated with sleep-wake cycle disturbances. As a result, autistic people suffer from sleep-onset insomnia, sleep-maintenance insomnia with particularly long nocturnal awakenings, and reduced total sleep duration. In ADHD, on the other hand, the most commonly observed sleep disorders include delayed sleep phase syndrome and restless legs syndrome, both responsible for sleep-onset insomnia. Due to its essential role in memory consolidation, emotional regulation, and attention, sleep directly influences an individual’s cognitive and behavioral development. Thus, sleep disorders in children with ADHD exacerbate inattention, hyperactivity and impulsivity, while in children with ASD, they amplify emotional regulation difficulties and behavioral disturbances. Identifying sleep disorders for their management in patients with NDDs is essential to improving their quality of life and reducing the severity of their daytime symptoms. Therapeutic interventions, whether behavioral or pharmacological – particularly melatonin administration – have shown significant efficacy. An integrated, multidisciplinary approach can optimize patient care and enhance their social and cognitive adaptation. A better understanding of the interactions between sleep disorders and NDDs thus opens new avenues for improving strategies in the management of individuals with NDDs.

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14. Lee D, McNulty L, Kathiravan S, Mauriello ML, Vasudevan V, Bhat A, Obrusnikova I, Suminski R. A Gamified mHealth App to Promote Physical Activity and Reduce Sedentary Behavior in Autistic Adults: Protocol for a Remotely Delivered Pilot Intervention Study. JMIR Res Protoc;2025 (Jul 22);14:e71631.

BACKGROUND: Research indicates that many autistic adults are insufficiently active and overly sedentary. There is limited evidence on effective strategies to increase physical activity (PA) and reduce sedentary behavior (SB) in this population. Gamified mobile health (mHealth) interventions show promise for addressing these challenges by leveraging autistic individuals’ strengths in visuospatial learning and their affinity for digital gaming. Despite this potential, it remains unclear how well these interventions translate to real-world settings. This gap is compounded by the lack of community-based participatory approaches in the development of mHealth intervention for autistic adults. OBJECTIVE: This study aims to (1) formulate gamification and behavior change strategies for the PuzzleWalk v2 app using a community-based participatory approach and (2) evaluate its feasibility and acceptability for increasing PA and reducing SB among autistic adults, including those with mild intellectual disability, in real-world settings. METHODS: This study, consisting of 2 sequential phases, will be conducted entirely remotely: (1) online community-based design workshops to refine the PuzzleWalk gamified mHealth system with input from key autism stakeholders, including autistic adults and caregivers, and (2) an 8-week field deployment to assess real-world usability and engagement. In Phase I (completed), weekly workshops and usability testing focused on understanding autistic adults’ technology preferences, evaluating PuzzleWalk v1 and v2 prototypes, and incorporating stakeholder feedback into iterative app development (n=9). Phase II (in progress) will involve a single-arm clinical trial where approximately 70 participants will use the app alongside research-grade activity-tracking accelerometers to measure PA and SB. Outcome measures, including sedentary time, step counts, PA intensities, and app engagement (eg, time spent using the app), will be collected across 4 specific time points (ie, baseline and weeks 3, 5, and 8). Repeated measures ANCOVA will be performed to examine changes in participants’ objective levels of PA and sedentary time before, during, and after the intervention. RESULTS: Phase I of the study, involving community-based participatory design workshops and usability testing, was completed in November 2024. Key autism stakeholders recognized the gamified PuzzleWalk app as a viable tool for enhancing motivation toward PA and SB changes among autistic adults. Data collection for Phase II, the field deployment, is currently underway and is expected to end in August 2025. As of July 2025, we had enrolled 69 participants in the study. The findings of these studies will be shared in a subsequent peer-reviewed publication. CONCLUSIONS: Results of the ongoing field deployment study (Phase II) will further clarify the app’s effectiveness and real-world applicability. TRIAL REGISTRATION: ClinicalTrials.gov NCT06566131; https://clinicaltrials.gov/study/NCT06566131. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/71631.

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15. Liu J, Xie X, Li Y, Pu Y, Li Y, Yang L. Burden of autism spectrum disorder in Japan from 1992 to 2021 and its prediction until 2050: results from the GBD study. Front Psychiatry;2025;16:1619085.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, alongside restricted, repetitive patterns of behavior. This study aimed to analyze the temporal trends and project the future burden of ASD in Japan. Using Global Burden of Disease (GBD) 2021 data, we analyzed prevalence, disability-adjusted life years (DALYs), and age-standardized rates (ASR) (1992-2021) through age-period-cohort modeling, joinpoint regression, and autoregressive integrated moving average (ARIMA) forecasting. Age-standardized prevalence rate (ASPR) increased significantly (Average Annual Percentage Change [AAPC]=0.2744; 95%CI:0.2606-0.2882), with males disproportionately affected (male-to-female ratio 4:1). By 2050, crude prevalence is projected to decline 14.2%, while ASPR will rise 18.0%. Japan’s ASD burden exceeds global averages, necessitating targeted interventions across the lifespan. These findings highlight the increasing burden of ASD in Japan and underscore the urgent need for enhanced healthcare planning and resource allocation.

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16. Lobanov S. THE PHENOMENOLOGY OF EARLY DEVELOPMENTAL DISORDERS AS A FORMATIVE FACTOR IN THE DEVELOPMENT OF ADDICTIVE BEHAVIOUR IN THE MODERN CONDITIONS OF UKRAINIAN SOCIETY. Georgian Med News;2025 (Apr)(361):155-163.

INTRODUCTION: Children with early developmental disorders are at greater risk for developing addictive behaviors because of their emotional, cognitive, and social disabilities. This study analyzes Ukrainian people with early social isolation, stress, dysfunctional families, digital addiction, and lack of support to determine how these factors combine to increase the chances of addiction. METHODS: This research is based on phenomenological qualitative methodology. The participants included 20 adult Ukrainians aged 19-45 diagnosed with ADHD, ASD, or learning disabilities. Participants were recruited using purposive sampling. The analysis was conducted using NVivo 14 and RStudio software. RESULTS: The results identified that participants aged between 19-45 years and suffering from developmental disorders, with a nearly equal gender ratio (11 males, 9 females) and different occupational, educational, and family backgrounds, resulted in five prominent themes during the qualitative analysis. The themes include Early Social Isolation, Coping with Stress, the Influence of the Family Environment, the Role of Digital Addiction, and the Lack of Support Systems. Each theme showed different pathways that led to addiction, such as peer rejection, work/school pressure, dysfunctional families, digital overdependence, and lack of support and treatment. These themes were strengthened through focus group discussions with parents, caretakers, mental health professionals, and teachers, which called for integrated solutions. CONCLUSIONS: The study emphasizes socio-environmental stressors that build on early developmental changes as a primary reason for addiction.

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17. Mashayekhi F, Salehi Z. Autism spectrum disorder genetics; a comprehensive review. Rev Neurosci;2025 (Jul 25)

Autism spectrum disorder (ASD) is a condition that is defined by difficulties in social interactions, communication challenges, and repetitive behaviors. ASD is a common condition, with a significant rise in the number of diagnosed children observed in recent decades. As of 2021, it is estimated that 1 in 44 children in the USA is affected by ASD. The disorder shows a notably higher prevalence in boys compared to girls, with a ratio exceeding four to one. Several genetic changes have been linked to ASD. Various common gene variations are believed to influence the likelihood of developing the condition. Genetic factors are estimated to contribute to 40-80 % of the overall risk associated with ASD. The combined risk from genetic variations along with environmental influences – such as older parental age, birth complications, and various unknown factors – determines an individual’s likelihood of developing this intricate condition. Many of the genes associated with ASD play a role in processes related to brain development. The proteins encoded by these genes impact various elements of brain development, including the proliferation, growth, and organization of neurons and synaptogenesis. Some genes control the number of neurons produced, while others are essential for the development and functioning of synapses. Numerous studies have been conducted to investigate the relationship between genetic variants and the risk of ASD. In this article, we discuss the functions of key genes associated with synapse formation and environmental factors including valproic acid and immunological perturbation with the development of ASD.

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18. Mei Z, Yang S, Li L, Zhao K, Zhang H, Liao A, Liu C. Preeclampsia: The silent catalyst for autism spectrum disorder in offspring. Placenta;2025 (Jul 14)

Preeclampsia, a pregnancy-specific disorder characterized by hypertension and proteinuria, has been hypothesized to be associated with the development of autism spectrum disorder (ASD) in offspring. This review synthesizes epidemiological evidence and examines biological mechanisms, proposing a significant association between preeclampsia and ASD. The analysis demonstrates an increased risk of ASD in offspring of mothers with preeclampsia, with early-onset and severe preeclampsia likely exerting a more significant effect. Biological plausibility is substantiated by preeclampsia-induced disruptions to fetal brain development, including inflammation, oxidative stress, and placental dysfunction. The review highlights the imperative for future research to clarify these mechanisms and inform the development of preventive strategies, providing critical insights for optimizing pregnancy management and ASD interventions.

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19. Mudde L, Reid RC, Hole R. Vocational training for youth with intellectual and developmental disabilities: a program evaluation of the Impact Project. Disabil Rehabil;2025 (Jul 23):1-15.

PURPOSE: Previous research in social inclusion investigating low employment rates among individuals with intellectual and developmental disabilities (IDD) points to shortcomings in vocational training for transitioning youth, exiting school environments. This study presents a program evaluation of the Impact Project, a community-based and person-centered vocational training program for youth with IDD, aged 15-19 years, in British Columbia (BC), Canada to assess whether early vocational training improved employment experiences for youth with IDD. MATERIALS AND METHODS: The study sample included 279 youth with IDD, who were part of summer programs in 2020, 2021, and 2022 at eight established community-based organizations in BC. Employment specialists at these organizations provided vocational activities and training, collecting the youth’s employment experiences in pre- and post-program surveys and activity diaries. This evaluation of the Impact Project employed a formative evaluation design to answer whether the youth-centered vocational training improved employment experiences. RESULTS: Participating in the Impact Project led to an increase in soft skills and unpaid and paid employment experiences for youth with IDD, aged 15-19 years. CONCLUSIONS: Community-based policies could benefit from person-centered approaches when providing employment-related planning for youth with IDD in preparation for transitions from school into employment environments. Employment is an acknowledged aspect of social inclusion for individuals with intellectual and developmental disabilities.Early engagement with youth about to leave school environments should include effective vocational training to promote future social inclusion through employment.Youth-centered vocational training in community can improve employment experiences as predictors of future employment outcomes and social inclusion. eng

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20. Nakagawa N, Shigemitsu Y, Okamoto K. GORE® CARDIOFORM ASD occluder thrombus in a patient of rheumatoid arthritis occurred three days after deployment. Int J Cardiol Congenit Heart Dis;2025 (Sep);21:100600.

A 67-year-old female patient with rheumatoid arthritis that was well suppressed by medications except for steroids had catheter closure of the secundum atrial septal defect (ASD). After the administration of aspirin and intravenous heparin, a 32-mm of GORE® CARDIOFORM ASD occluder was successfully deployed. On postprocedural day 3, transthoracic echocardiography showed mobile echogenic mass of 9 mm on the right side of the device. Intravenous heparin 10 IU/kg/hr was administrated continuously, and clopidogrel was added. On the following day, the mobile mass was not visible. Even though the occurrence rate of device thrombus is not high, device thrombosis can become a major complication of device closure of ASD because it may cause systemic and/or pulmonary embolism. Administration of dual antiplatelet therapy or other anticoagulant therapy should be considered if the patients have a higher risk of thrombosis.

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21. Nguyen TQH, Nguyen TKC, Le TH, Ngo TD. Eye-tracking technology applications for supporting individuals with autism spectrum disorder: insights, challenges, and opportunities. Disabil Rehabil Assist Technol;2025 (Jul 23):1-36.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterised by deficits in social communication and restricted, repetitive behaviours, with significant impacts on individuals and their families. In recent years, eye-tracking technology has emerged as a valuable tool for examining the cognitive and perceptual differences associated with ASD. Despite technological advancements, the diversity and complexity of this technology may pose challenges for researchers, particularly in fields such as psychology and special education. This review aims to provide a comprehensive overview of the use of eye-tracking technology in supporting individuals with ASD, focusing on three key areas: major research directions, applications of the technology, and the relationship between ASD-related impairments and eye movement measures. A thorough literature search was conducted across PubMed, Google Scholar, Scopus, Web of Science, and the ACM Digital Library, resulting in the inclusion of 170 studies following a rigorous selection process. The analysis of these studies reveals a sustained interest in the application of eye-tracking technology to autism research, as evidenced by the diverse range of research directions explored. For each direction, data collection and analysis methodologies are examined to identify best practices and key considerations. Accordingly, this review offers guidance for future research by highlighting current achievements, acknowledging existing limitations, and proposing promising directions for the continued use of eye tracking in ASD-related studies.

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22. Pagán AF, Loveland KA, Acierno R. The Adaptation and Translation of a Transition Readiness Scale for Young Adults with Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jul 22)

Autistic young adults often face significant challenges during the transition to adulthood, yet few tools exist to assess their readiness in a developmentally appropriate and culturally responsive manner. This study presents the development and initial validation of the Transition Readiness Scale for Autistic Adolescents and Adults (TRS-A), a brief caregiver- and self-report measure designed to assess key domains of transition readiness. Guided by qualitative input from Latino families, community stakeholders, and clinicians, the TRS-A was piloted with 114 autistic young adults, 66 Spanish-speaking parents, and 48 English-speaking parents. Psychometric analyses supported the scale’s internal consistency and construct validity, mirroring the results from the initial development of the measure, with TRS-A scores correlating with adaptive functioning and mental health outcomes. The TRS-A offers a promising way to identify strengths and needs in autistic youth as they prepare for adult roles and responsibilities. Future research should explore its use across broader populations and its predictive value in transition-related interventions and clinical decision-making.

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23. Pelizza L, Leuci E, Quattrone E, Palmisano D, Pupo S, Paulillo G, Pellegrini C, Pellegrini P, Menchetti M. Autism-spectrum traits in First Episode Psychosis: Psychopathological and prognostic considerations from a 2-year follow-up study. Schizophr Res;2025 (Jul 23);283:163-172.

INTRODUCTION: There’s a general lack of knowledge about autism attributes in early psychosis, although little initial evidence showed that having autistic features contributes to poorer recovery over time. The main aim of this examination was to compare sociodemographic and clinical variables between FEP patients with or without autistic characteristics treated within an « Early Intervention in Psychosis » (EIP) service both at entry and across 2 years of follow-up. We also examined the longitudinal course of autism severity levels in FEP to investigate whether they truly represented trait-like attributes. METHODS: FEP participants completed the AQ-spectrum Questionnaire (AQ), the Positive And Negative Syndrome Scale (PANSS), and the Global Assessment of Functioning (GAF) at baseline and over time. Inter-group comparisons were examined using Chi-Squared or Mann-Whitney test, Kaplan-Meyer survival analysis, mixed-design ANOVA, and binary logistic regression. AQ score longitudinal stability was explored using Wilcoxon test for repeated measures and Spearman correlation coefficient. RESULTS: 132 subjects were recruited (28 [21.20 %] scored above the AQ cut-off score of≥26). At presentation, they showed younger age and higher severity in psychopathology (especially negative symptoms). Across the follow-up, the AQ+ subsample had lower incidence rates of service disengagement, PANSS symptomatic remission, and GAF functional remission. AQ scores showed longitudinal stability over time. CONCLUSIONS: The AQ represents a valid instrument to assess « trait-like » autistic features in FEP subjects. Specifically, it captures a distinct FEP subgroup characterized by more severe clinical presentation, poorer clinical and functional outcomes, and specific therapeutic needs.

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24. Romanova RS, Talantseva OI, Lind KV, Manasevich VA, Kuznetsova JE, Grigorenko EL. The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man. Pediatr Rep;2025 (Jul 8);17(4)

Objectives/Background: Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS.

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25. Selanikyo E, Sagie D, Haas T, Erez ABH. Unlocking potential: Commanders’ perspectives on the work efficiency and skillsets of autistic adults in non-combat military roles. Work;2025 (Jul 23):10519815251359956.

BackgroundAutism Spectrum Disorders (ASD), present challenges, particularly with respect to employment. The Roim-Rachok Program (RRP) trains individuals with ASD for roles in the Israel Defense Forces (IDF), to enhance these individuals’ workforce integration. To date, no studies have investigated the professional work performance of RRP participants from the perspective of their military commanders.ObjectiveThis study evaluated IDF commanders’ perceptions of the work performance of RRP soldiers and assessed the support these soldiers need for optimal accomplishment of their job profiles.MethodsA cross-sectional quantitative study of 45 commanders (M = 27.0, SD = 7.5) was conducted. Data was collected using a 12-item Commanders’ Questionnaire (TCQ) that assessed the task performance, independence, work quality, and perseverance of the 70 ASD soldiers under their orders. Descriptive and non-parametric analyses were applied to explore the associations between the commanders’ background and their perceptions of these soldiers’ performance.ResultsVarimax rotation yielded four domains: Performance at Work, Work Quality, Independence, and Perseverance. The commanders rated RRP soldiers similarly to non-ASD soldiers, but gave higher ratings for accuracy and task persistence, and lower ratings for work pace. Older and more senior commanders rated the soldiers’ perseverance and independence more highly. No significant associations were found for gender or soldiers’ length of service.ConclusionsRRP soldiers excel on tasks requiring accuracy, perseverance, and routines, but face challenges with task versatility and learning new tasks. The structured military environment accommodates ASD individuals well and can serve as a foundation for future civilian employment.

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26. Tangviriyapaiboon D, Sirithongthaworn S, Thaineua V, Kanshana S, Sriminipun A, Lersilp S, Panyo K, Changsom K, Panyaphab M, Srikummoon P, Thumronglaohapun S, Sricharoen N, Traisathit P. Study protocol for a multi-centre randomised controlled trial of the Thai early intervention for autism: Assistive Technology for Caregivers (TEI4A-ATC) across nine hospitals in health region 1, northern Thailand. BMJ Open;2025 (Jul 21);15(7):e095359.

INTRODUCTION: The management of autism spectrum disorder (ASD) involves a varied and comprehensive range of support services at various stages of an autistic individual’s life. In Thailand, parents/legal guardians of children with ASD often encounter challenges such as difficulty travelling from rural areas to access support services. The aim of the present study is to investigate the effectiveness of a computer-based intervention programme for caregivers of children with ASD called the Thai Early Intervention for Autism-Assistive Technology for Caregivers (TEI4A-ATC), designed and implemented by a multidisciplinary team. METHOD AND ANALYSIS: 160 children and their caregivers are being recruited. They will be randomised 1:1 into two treatment arms: access to TEI4A-ATC for the intervention group and standard care for the control group. Before enrolment, ASD diagnosis will be conducted using the Thai Diagnostic Autism Scale: children’s ASD scores will be determined using the Thai Autism Treatment Evaluation Checklist for evaluating communication, sociability and sensory/cognitive awareness and the Thai Early Developmental Assessment for Intervention for evaluating motor skills, social interaction, language development and problem-solving. Both assessment tools will be used again after 3 months of treatment. Similarly, the caregivers’ knowledge, attitude and practice (KAP) for ASD care will be assessed using a questionnaire at enrolment and again after treatment. Comparison of the children’s ASD scores and caregivers’ KAP responses between the treatment groups and before and after treatment will be performed based on the intention-to-treat principle. ETHICS AND DISSEMINATION: This study was approved by the Human Research Ethics Committee for Mental Health and Psychiatry, Department of Mental Health, Ministry of Public Health (DMH.IRB.COA 037/2565). Written informed consent will be obtained from the participants prior to enrolment. The study’s findings may be disseminated through scientific publications and conference presentations. The results of the study will be shared with key stakeholders, including caregivers, psychiatrists, policymakers and the general public, via appropriate dissemination channels to aid in creating appropriate practice and policy guidelines. TRIAL REGISTRATION NUMBER: This study was registered with the Thai Clinical Trials Registry (TCTR20240320010) on 20 March 2024.

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27. Yerkibayeva Z, Yermukhanova G, Saduakassova K, Rakhimov K, Abu Z, Menchisheva Y. NON-INVASIVE ESTHETIC TREATMENT OF INITIAL CARIES WITH RESIN INFILTRATION IN A PATIENT WITH AUTISM SPECTRUM DISORDER. Georgian Med News;2025 (Apr)(361):121-126.

This report presents the case of an 11-year-old male patient diagnosed with Autism Spectrum Disorder (ASD), who was treated for mild dental fluorosis using the ICON® resin infiltration technique. The child’s parents expressed concern about the esthetic appearance of the teeth, which was affecting his self-confidence in social situations. Clinical examination revealed carious lesions of the enamel on the central incisors corresponding to code 3 of the CAST system (distinct changes in enamel color due to demineralization, indicating a more advanced initial stage of caries). Vital staining was performed for diagnostic purposes and to assess the condition of the enamel, revealing significant demineralized areas. Additionally, light-induced fluorescence was used to confirm structural changes in the enamel. As part of the treatment protocol, remineralizing therapy was also administered using R.O.C.S. gel to enhance enamel structure. Considering the cooperative behavior of the patient and his mild sensory sensitivity, a non-invasive resin infiltration technique (ICON®) was selected. The procedure was carried out on the upper central incisors using a custom-designed device developed by our team for isolating the anterior tooth group, which served as an alternative to the conventional rubber dam. The infiltration protocol was followed step-by-step in accordance with the manufacturer’s instructions. Immediately after the procedure, vital staining and light fluorescence methods revealed a marked improvement in tooth aesthetics, with white spots appearing less prominent and the enamel displaying a more uniform color. Resin infiltration provided good material integration with the enamel, significantly improving the appearance of the teeth. At the three-month follow-up, repeat examination using light-induced fluorescence and vital staining demonstrated stable results: the enamel remained uniform, the white spots had almost disappeared, and enamel color was preserved. The resin infiltrate exhibited durability with no signs of degradation or discoloration. The patient reported improved esthetic self-perception, which contributed to enhanced self-confidence. The treatment was performed without sedation and was well tolerated by the patient, resulting in satisfaction for both the child and his parents. Minimally invasive resin infiltration demonstrated high efficacy and esthetic benefit in the management of early caries on the central incisors in children with ASD, ensuring clinical success and patient comfort.

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28. Zeraati M, Davoodi A. ASD-GraphNet: A novel graph learning approach for Autism Spectrum Disorder diagnosis using fMRI data. Comput Biol Med;2025 (Jul 21);196(Pt B):110723.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with heterogeneous symptomatology, making accurate diagnosis challenging. Traditional methods rely on subjective behavioral assessments, often overlooking subtle neural biomarkers. This study introduces ASD-GraphNet, a novel graph-based learning framework for diagnosing ASD using functional Magnetic Resonance Imaging (fMRI) data. Leveraging the Autism Brain Imaging Data Exchange (ABIDE) dataset, ASD-GraphNet constructs brain networks based on established atlases (Craddock 200, AAL, and Dosenbach 160) to capture intricate connectivity patterns. The framework employs systematic preprocessing, graph construction, and advanced feature extraction to derive node-level, edge-level, and graph-level metrics. Feature engineering techniques, including Mutual Information-based selection and Principal Component Analysis (PCA), are applied to enhance classification performance. ASD-GraphNet evaluates a range of classifiers, including Logistic Regression, Support Vector Machines, and ensemble methods like XGBoost and LightGBM, achieving an accuracy of 75.25% in distinguishing individuals with ASD from healthy controls. This demonstrates the framework’s potential to provide objective, data-driven diagnostics based solely on resting-state fMRI data. By integrating graph-based learning with neuroimaging and addressing dataset imbalance, ASD-GraphNet offers a scalable and interpretable solution for early ASD detection, paving the way for more reliable interventions. The GitHub repository for this project is available at: https://github.com/AmirDavoodi/ASD-GraphNet.

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29. Zhou W, Zhou D, Li L, Wang X, Xun Z. No significant association between anesthetics administered during delivery and autism spectrum disorder: a Mendelian randomization study. Minerva Anestesiol;2025 (Jun);91(6):494-505.

BACKGROUND: Autism spectrum disorder (ASD) has a complex etiology. Anesthesia during childbirth may influence the ASD risk, but the available data remain conflicting. This study aimed to explore the associations between anesthetics administered during delivery and the development of ASD. METHODS: A two-sample Mendelian randomization (MR) design was used to determine the association between anesthetics exposure during delivery and ASD using summary data from genome-wide association studies (GWAS). Analysis was conducted using the inverse variance weighted (IVW), weighted median, weighted mode, and MR-Egger regression methods. Heterogeneity among instrumental variables (IVs) was assessed using Cochran’s Q-test. Horizontal pleiotropy was evaluated using the MR-Egger regression method. Mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO) was used to detect horizontal pleiotropy and outliers. The robustness and consistency of the results were tested using the leave-one-out method. RESULTS: There were no statistically significant associations between the use of anesthesia during childbirth and the risk of ASD (P=0.153 for general anesthesia; P=0.295 for epidural/caudal anesthetics; P=0.609 for spinal anesthetics; P=0.889 for epidural or caudal and spinal anesthetics; P=0.441 for other anesthetics). The Q test and MR-Egger analysis indicated that the results were homogeneous and not influenced by horizontal pleiotropy, thus demonstrating their robustness. The MR-PRESSO analysis suggested no horizontal pleiotropy effects but one outlier; excluding the outlier did not change the conclusions. The leave-one-out analysis also supports the robustness of the results. CONCLUSIONS: This MR study does not support an association between general, epidural/caudal, spinal, epidural/caudal and spinal, or other anesthetics during delivery and the occurrence of ASD, suggesting that concerns about ASD should not serve as a basis for decision-making regarding labor analgesia.

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