Pubmed du 31/10/25
1. Adamou M, Fullen T, Clarke C, Godley C, Jones SL. Patient Expectations of an Autism Diagnosis: A Thematic Analysis. J Autism Dev Disord. 2025.
PURPOSE: Autism Spectrum Disorder (ASD) diagnoses have increased significantly in recent years, particularly among adults. Many adults seek a diagnosis to gain personal clarity and access to appropriate support, yet their specific expectations and motivations remain underexplored. This study aims to investigate the hopes and expectations of adults referred for an ASD assessment, focusing on their motives and the broader psychosocial implications of a diagnosis. METHOD: Sixty adults referred for ASD assessments provided verbal responses to open-ended questions about their expectations, which were recorded by clinicians on paper. Responses were analysed using thematic analysis. RESULTS: Five major themes were generated: Personal Growth, Explanation for Others, Access to Support, Inclusivity and Acceptance, and Progress in Life Domains. Participants frequently sought self-understanding, social validation, and access to workplace or mental health support. CONCLUSIONS: The study highlights the need for diagnostic processes to address both the emotional and practical expectations of individuals seeking an autism diagnosis, including pre-assessment counselling and post-diagnosis support. The findings contribute to a deeper understanding of adult ASD diagnoses, offering valuable insights for healthcare providers and policymakers.
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2. Álvarez-Couto M, García-Villamisar D. Beyond diagnosis: Are there predictor variables of ADHD in adults with ASD and moderate to severe intellectual disability levels?. Acta Psychol (Amst). 2025; 261: 105877.
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a common comorbidity in individuals with autism spectrum disorder (ASD), yet the manifestation and diagnosis of ADHD in adults with ASD and severe intellectual disability (ID) remain under-researched. This research aims to identify transdiagnostic variables that may indicate the presence of ADHD in a population in which additional diagnoses can be complicated due to communication constraints. METHODS AND PROCEDURES: The study involved 83 adults with dual diagnoses of ASD and ID, and a test battery was used to assess different variables: Conners’ Adult ADHD Rating Scales-Observer Report: Screening Version; Adult Executive Functioning Inventory; Emotion Regulation Checklist. According to the score considered in the Conners’ scale (>70), 26.5 % of the sample met the criteria for suspecting an ADHD diagnosis. OUTCOMES AND RESULTS: The findings suggest that higher levels of executive dysfunction and emotional dysregulation are predictive of a clinically relevant level of ADHD symptoms in adults with ASD and severe ID. The research contributes to a deeper understanding of ADHD in a population with complex diagnostic challenges, providing valuable insights for more accurate diagnoses and targeted interventions. CONCLUSIONS AND IMPLICATIONS: The study highlights the importance of considering executive and emotional functioning when assessing for ADHD in adults with ASD and ID and suggests that these variables may serve as key indicators for identifying and intervening in comorbid ADHD in this population.
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3. Chen X, Tong J, Wang X, Zhu L, Tao Y, Zhao H, Liu C, Wang Y, Zhao C, Yan D. Factors related to quality of life in caregivers of children with autism spectrum disorder: emphasizing challenges in the context of Eastern China. BMC Public Health. 2025; 25(1): 3709.
BACKGROUND: Caregivers of children with autism spectrum disorder (ASD) encounter multiple challenges, increasing their risk of experiencing a low quality of life (QOL). Therefore, this study aims to examine the QOL among caregivers of children with ASD in eastern China and to identify the associated factors across many aspects. METHODS: A cross-sectional study was conducted across five institutions in Lianyungang, Jiangsu Province, eastern China. A self-administered questionnaire included child characteristics, caregiver characteristics, the World Health Organization Quality of Life 8 questions (WHOQOL-8), the Insomnia Severity Index (ISI), the Parenting Stress Index-Short Form (PSI-SF), the Family APGAR index (APGAR), and the medical service quality questionnaire were used to collect data. Multiple linear regression models were used to identify factors associated with QOL among caregivers of children with ASD. RESULTS: Overall, 405 caregivers of children with ASD participated in the study. The mean QOL score was 26.09 ± 5.03, with a median score of 26.00 (23.00, 30.00). Multiple linear regression analysis revealed that lower QOL was significantly associated with being a mother (β = -1.704, 95% CI: -2.796 – -0.612; P < 0.05), resided in rural areas (β = -0.941, 95% CI: -1.775 - -0.108; P < 0.05), higher insomnia symptoms (β = -0.256, 95% CI: -0.327 - -0.184; P < 0.001), and higher parenting stress (β = -0.089, 95% CI: -0.127 - -0.051; P < 0.001). However, caregivers with at least a high school education (β = 1.539, 95% CI: 0.696-2.382; P < 0.001), reported no chronic disease (β = 2.169, 95% CI: 0.449-3.889; P < 0.05), experienced good family function (β = 0.296, 95% CI: 0.150-0.442; P < 0.001), and perceived high quality of medical services (β = 0.264, 95% CI: 0.086-0.442; P < 0.05) exhibited significantly higher QOL. CONCLUSIONS: The findings highlighted that the QOL in caregivers of children with ASD was lower, and more attention needed to be paid to caregivers who were mothers, lived in rural areas, had an education level of junior high school or below, and had chronic diseases. In addition, it was necessary to develop coping strategies to address insomnia symptoms, parenting stress, family function, and medical service quality.
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4. Cho JM, Shin JW. Nutrigenomics for Autism Spectrum Disorder: A Multidisciplinary Framework for Personalized Nutrition in Special Education. Clin Nutr Res. 2025; 14(4): 329-37.
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition often accompanied by metabolic and nutritional imbalances. Conventional dietary interventions, such as the gluten-free, casein-free diet, typically fail to consider individual genetic variations. Nutrigenomics, the study of gene-nutrient interactions, offers a promising framework for exploring personalized dietary interventions that may help address the metabolic and neurological complexities associated with ASD, although current evidence remains preliminary. This research note offers recommendations for integrating nutrigenomics into special education through a multidisciplinary approach that combines clinical nutrition, genetics, and educational practice via a 3-phase agenda. Stage 1 focuses on identifying behavioral subgroups within special education settings and using validated tools such as the Child Behavior Checklist Scale to analyze nutritional intake. Stage 2 involves the development and pilot-testing of behavior-specific nutrition protocols that are tailored to these subgroups, incorporating input from practice experts in nutrigenomics. Lastly, in Stage 3, a personalized nutrition model that incorporates genetic screening and metabolic profiling is constructed in collaboration with dietitians, educators, and caregivers. By bridging clinical and educational domains, this study seeks to establish nutrigenomics-based nutrition therapy as a viable and equitable intervention for improving health and developmental outcomes among students with ASD.
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5. Choi YK, Johnston M. To be ‘within and without’ – A trainee’s perspective of an intellectual and developmental disability consultation service. Australas Psychiatry. 2025: 10398562251393793.
BackgroundThe first author is a third-year trainee with Queensland Centre of Excellence for Intellectual Disability and Autism Health (QCEIDAH). This perspective stemmed from the experience of working at QCEIDAH and reflecting during supervision on the complexity and confusion that arose being ‘within and without’ – quote from F. Scott Fitzgerald’s 1925 novel, ‘The Great Gatsby’, depicting the narrator’s coming of age.ObjectiveTo explore and outline the perspective of a registrar working in a state-wide intellectual and developmental disability consultation service.MethodThe utility of various psychiatric frameworks within a complex consultation service is discussed, including biopsychosocial model, psychodynamic model, and systems framework.ConclusionTo be ‘within and without’ not only describes the physical state of being inside a room with the patient in a time-limited consultation service but also mirrors the complexity of stepping into the various system of the patient including their families, support workers, NDIS coordinator, and other health providers in a variety of physical, metaphorical, and metatheatrical sense. This presentation highlights the challenge of a trainee working in a space with high expectations from a variety of systems in a field which lacks the clarity and framework to easily achieve this.
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6. Datta S, Ashraf Batha A, Jawa D, Chadha A, Jaidka S, Gupta M. Comparative assessment of oral placement therapy combining B-ARM chewing tube and speech therapy for children with autism spectrum disorders. Bioinformation. 2025; 21(7): 2040-3.
The impact of oral placement therapy using B-ARM chewing tube along with speech therapy in terms of muscle tonicity and drooling in children with Autism spectrum disorders (ASD) is of interest. 30 children with ASD in the age group of 5-10 years were selected for the study. They were divided into two equal group with speech therapy B-ARM chewy tube provided to experimental group (N=15), while the control group (N=15) was given only speech therapy. The muscle tonicity and drooling of saliva were assessed for both groups using surface electromyography and the drooling severity scale, respectively before and after 3 months. Thus, B-ARM was recommended as an effective tool for oral placement therapy for children with ASD.
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7. Downey M, Nayyar J, Guerin S, O’Connor C. When expectation meets experience: A qualitative analysis of serial interviews with adults before and after autism assessment. Autism. 2025: 13623613251384436.
With growing numbers of adults seeking and receiving autism diagnoses, understanding subjective experiences of this process is crucial for sensitive policy and practice. The route to diagnosis can be long and circuitous, yet most evidence on adults’ experiences of diagnosis relies on retrospective reports collected at a single point in time. The current study explores lived experiences of the diagnostic journey through serial qualitative interviews conducted in the weeks before and after adults’ autism diagnosis. Fourteen adults participated in online interviews over videoconferencing or email. Thematic analysis of the data suggested the diagnostic process could be characterised according to three themes. Journey to Self-Discovery identified the pursuit of diagnosis as rooted in a drive for self-understanding, propelled by anticipated benefits that were partially realised, and emotionally complex at all stages. Challenges with Navigating the Diagnostic Process highlighted how the process of acquiring and adjusting to a diagnosis was shaped by issues of resource access, system deficiencies, social inequalities and cognitive overwhelm. Isolation to Advocacy revealed how journeys that began in independent self-initiative evolved over time into community participation and advocacy. Providing original evidence of how lived experiences of adult autism diagnosis evolve across time, the current study offers valuable context for adults pursuing assessment, professionals performing assessments and policy-makers designing adult autism services.Lay abstractIncreasing numbers of people are receiving autism diagnoses in adulthood. Understanding their firsthand experience of diagnosis is crucial for improving supports for adults undergoing autism assessment. This study conducted interviews with adults at two time-points: one interview during the six weeks before their assessment, and a second interview within six weeks after their assessment. Fourteen people volunteered to participate in the study through videocall or email. The interview transcripts were analysed using a process called thematic analysis, with specialist software used to find patterns across people’s experiences. The analysis suggested that adults appreciated the role of diagnosis in helping develop a better understanding of themselves. Nevertheless, people had mixed emotions both leading up to the assessment and after their autism diagnosis. Adults experienced many challenges in arranging and undergoing the autism assessment. However, the process of getting a diagnosis helped many to move from feeling isolated to feeling part of a wider community. These findings will be useful to adults at different stages of the diagnosis process, and for professionals and policy-makers developing adult autism services.
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8. Franke F, Ertürk S, Maass JG, Kamionek D, Schubert T, Pitzer C, Theiß S, Fischer C, Gilmore RB, Dwornicki E, Bocke CR, Yosten GLC, Schaaf CP, Althammer F. In-depth behavioral characterization of a rat model of Schaaf-Yang syndrome. Sci Rep. 2025; 15(1): 37929.
Schaaf-Yang syndrome (SYS, OMIM #615547) is a rare neurodevelopmental disorder caused by truncating variants in the maternally imprinted MAGEL2 gene. It is characterized by intellectual disability, autism spectrum disorder, joint contractures, and feeding difficulties. Although MAGEL2 is deleted in most cases of Prader-Willi syndrome (PWS, OMIM #176270), SYS presents with more severe symptoms, suggesting pathogenic effects of truncated MAGEL2 beyond a mere loss of function. This study expands the behavioral characterization of a novel rat model (« Magel2(Pmut) rats ») which carries a truncating mutation on the paternal allele of Magel2, offering greater construct validity for SYS than previous animal models with Magel2 deletion. While an initial study provided first insights, key domains within the behavioral phenotype of the model remained unexplored. Our comprehensive behavioral analysis, including home-cage monitoring, ultrasonic vocalization analysis, and precise gait assessment, identified several phenotypic alterations potentially relevant to the study of SYS. Magel2(Pmut) rats exhibited abnormal feeding behavior, changes in early social communication, alterations in gait, aberrant behavior in the elevated plus maze, and delayed decision-making. Additionally, we confirmed that Magel2(Pmut) rats show phenotypes of abnormal social interaction. These results may reflect core symptoms seen in SYS, underscoring the value of this model for preclinical research on pathophysiology and therapeutics.
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9. Galvez-Merlin A, Arqueros M, Fuentes-García N, Diaz-González S, de la Torre-Luque A, Lopez-Villatoro JM, Díaz-Marsa M, Carrasco JL. Autistic traits in borderline personality Disorder: Relationship to interpersonal traumatic experiences. J Psychiatr Res. 2026; 192: 332-6.
INTRODUCTION: Detecting autistic spectrum disorder (ASD) traits in BPD patients is challenging due to overlapping symptoms such as impulsivity, emotion instability, self-injury behavior and interpersonal difficulties. Theory of mind impairments and other ASD features may increase vulnerability to interpersonal trauma and therefore to BPD symptoms. This study examines ASD traits in BPD patients and their impact on interpersonal trauma exposure. METHOD: 65 BPD patients and 40 controls were assessed using the Autism Spectrum Quotient (AQ 10) and the Social Responsiveness Scale (SRS-2). Interpersonal traumatic experiences were also collected (physical abuse in childhood, sexual abuse in childhood, rape in adulthood, school bullying and mobbing). ASD scores were compared between patients and controls through a t-test for mean difference. The sex variable was controlled using ANCOVA. Finally, the relationship between ASD scores and interpersonal trauma was analyzed by using linear regression analysis. RESULTS: Patients with BPD had higher ASD scores for both the AQ-10 (p < .04) and the SRS-2 (p < .001) than the control group. In the BPD group, ASD features were significant predictors for reporting interpersonal trauma experiences (p < .001). CONCLUSIONS: ASD traits are significantly present in BPD patients than in healthy subjects and are associated with the intensity of interpersonal trauma in BPD. According to these results, the clinical relevance of ASD traits in developing BPD and in the clinical manifestations of the disorder should be further investigated in greater samples.
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10. Godorecci K, Zhang C, Riddle DB, Onyeka OC, Schneider SC, Berry LN, Goin-Kochel RP, Storch EA, Guzick AG. Predictors of Treatment Outcomes in Internet-Delivered Cognitive Behavioral Therapy Among Autistic Youth With Anxiety Disorders. J Autism Dev Disord. 2025.
PURPOSE: Anxiety disorders are widespread and significantly impair the mental health and daily functioning of autistic children and adolescents. Internet-delivered cognitive behavioral therapy (iCBT) has emerged as a widespread, low-cost alternative to traditional CBT, helping to reduce demands on therapists without sacrificing efficacy. However, the predictors of treatment outcomes in iCBT for this population remain understudied. This study used data from a randomized clinical trial evaluating parent-led, therapist-supported iCBT among 57 autistic youth with anxiety disorders to examine whether repetitive behaviors and restricted interests, pretreatment anxiety severity, parent-rated externalizing symptoms, verbal intellectual ability, and Hispanic/Latino ethnicity predicted treatment outcomes. METHODS: Hierarchical linear modeling was used to test the impact of these predictors on changes in evaluator-rated and parent-reported anxiety severity. RESULTS: Higher baseline anxiety severity was associated with greater improvement in evaluator- and parent-rated anxiety scores across the trial, while fewer externalizing behavior problems predicted more improvement in parent-reported anxiety and trended towards predicting greater improvement in evaluator-rated anxiety. The other predictor variables did not significantly influence rates of change in anxiety across the trial. CONCLUSION: These findings suggest that youth with varying levels of anxiety can benefit from a light-touch therapeutic approach, challenging the general notion that low-intensity interventions are only viable for individuals with mild anxiety. These findings also suggest that additional considerations are needed for youth with more severe disruptive behavior problems. Replication of these findings in larger samples with comparison groups (e.g., an inert comparator or a comparison to standard intensity treatment) is highlighted for future work.
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11. Hnoonual A, Arunthong W, Plong-On O, Sangmanee P, Limprasert P. Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis. J Mol Diagn. 2025.
Fragile X syndrome (FXS) is the most common cause of intellectual disability. It is usually caused by the expansion of the CGG trinucleotide repeat (>200 repeats) in FMR1, resulting in DNA hypermethylation and gene silencing. Conventional FXS diagnosis is based on a combination of PCR and Southern blot (SB) analysis, which is technically challenging and labor-intensive. Methylation-specific triplet repeat-primed PCR (msTP-PCR) has been proposed to overcome these limitations in detecting FMR1 expansion and methylation status. However, its performance in FXS diagnosis in clinical laboratory settings has not been extensively studied. We validated and implemented an msTP-PCR assay and compared it versus the conventional diagnostic protocol in clinical samples. A total of 420 clinical samples (339 male subjects and 81 female subjects) previously genotyped for FMR1 CGG repeat expansion using reference methods (PCR-based methods and/or SB analysis) were investigated using msTP-PCR. The results showed high concordance with the reference results for allele categorization, repeat number correlation, and methylation status. However, discordant results were observed in rare cases of female patients with complex mosaic normal, premutation, and full mutation alleles, which need further confirmation via SB analysis. Nonetheless, these results confirm that the msTP-PCR method is a useful alternative technique for FXS diagnosis and prenatal testing, as it is rapid, reliable, cost-effective, and can potentially reduce the requirement for SB analysis.
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12. Islamoğlu AH, Orhan Ş, Gürmeşe Z, Akgül Ş, Gezer S. Evaluation of Avoidant/Restrictive Food Intake Disorder and Nutrition-Related Factors in Autism Spectrum Disorder: A Case-Control Study. J Autism Dev Disord. 2025.
AIM: This study aimed to compare the prevalence of Avoidant/Restrictive Food Intake Disorder (ARFID) between children with Autism Spectrum Disorder (ASD) and typically developing children (TDC) and to examine the influence of ASD on the development of ARFID. MATERIALS AND METHODS: The sample included 25 children diagnosed with ASD and 30 TDC. Anthropometric measurements were taken and participants completed the Nine-Item ARFID Screen (NIAS), the Children’s Eating Behavior Questionnaire (CEBQ), and the Bristol Stool Scale (BSS), along with researcher-developed questions on gastrointestinal (GI) symptoms. Data were analyzed using SPSS 22.0, employing descriptive statistics, t-tests, chi-square and correlation analyses. RESULTS: The mean age of participants was 8.02 years (± 3.28) and 61.8% were male. NIAS scores were significantly higher in the ASD group (24.2 ± 9.7) compared to the TDC group (14.17 ± 8.8). In the CEBQ, ASD children scored significantly higher in food fussiness but lower in emotional overeating, desire to drink, and enjoyment of food. NIAS scores were positively correlated with food fussiness, slowness in eating, and satiety responsiveness and negatively correlated with emotional overeating, food responsiveness, and enjoyment of food. Among GI variables, only bloating was significantly more common in the ASD group. NIAS scores were positively associated with complaints of indigestion and bloating. CONCLUSION: Children with ASD are at higher risk for ARFID and exhibit more picky eating patterns. Increased ARFID risk is linked to greater food selectivity, slow eating, satiety responsiveness and GI symptoms such as bloating and indigestion.
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13. Jung H, Kim B, Jang G, Lee H, Kim Y, Kim H, Lee HJ, Kim D, Yang Y, Jeong WC, Kim S, Han AR, Kim HM, Papadopoulos T, Durand B, Francannet C, Piton A, Kim JY, Ko J, Um JW. Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation. Mol Psychiatry. 2025.
Missense and truncating variants of the X-chromosome-linked ARHGEF9 gene encoding collybistin (Cb) cause intellectual disability and epilepsy. Here we report novel rare variants in ARHGEF9 identified via exome sequencing in male individuals with autism spectrum disorders (ASD). Functional analyses revealed that p.R290C promotes abnormal gephyrin clustering in COS-7 cells and reduces inhibitory synapse density in cultured hippocampal neurons. Electrophysiological recordings revealed that p.V374F and p.G485S, in conjunction with p.R290C, induce defective inhibitory synaptic transmission. Furthermore, only the p.G485S markedly decreased phosphatidylinositol 3-phosphate-binding activity. Mice with conditional knockout (cKO) of Cb displayed altered inhibitory synaptic density and transmission in the medial prefrontal cortex (mPFC). Moreover, ultrasonic vocalization was impaired in mPFC-specific Cb-cKO mice. Strikingly, proteomic analyses showed that mPFC-specific Cb-cKO reduced gephyrin phosphorylation levels. Expression of a subset of ASD-associated ARHGEF9 variants failed to rescue impaired GABAergic synaptic transmission and reduced gephyrin phosphorylation levels in mPFC-specific Cb-cKO mice. Our data suggest that perturbation of diverse facets of Cb activity potentially triggers the onset and/or progression of ASDs via inducing altered balance in gephyrin phosphorylation.
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14. Kallitsounaki A, Fysh MC, Williams DM, Spinner L, Kennedy E. Behavioural phenotypes of autism in autistic and nonautistic gender clinic-referred youth and their caregivers. Autism. 2025: 13623613251379920.
In recent years, referrals of youth to specialised gender services have risen sharply, with ~11% of these youth diagnosed as autistic compared with a general population rate of ~1%. In two preregistered studies, we addressed this insufficiently understood intersection. In Study 1, we examined the number and developmental trajectory of autism traits in autistic and nonautistic gender clinic-referred and cisgender youth (aged 7-16 years) using both screening measures (Autism-Spectrum Quotient Children’s Version and Autism-Spectrum Quotient Adolescent Version, Social Communication Questionnaire-Lifetime) and diagnostic tools (Autism Diagnostic Interview-Revised, Brief Observation of Symptoms of Autism). In Study 2, we examined autism traits among the caregivers of participants from each group using the Autism-Spectrum Quotient Adolescent Version. Study 1 results showed the autism phenotype in autistic gender clinic-referred youth closely resembled that of their cisgender autistic peers. In addition, after addressing methodological limitations in previous research, we found no evidence of elevated autism traits in nonautistic gender clinic-referred youth, challenging findings of some earlier studies. Study 2 provided evidence of familial aggregation of both autism traits and diagnoses among caregivers of both autistic gender clinic-referred and cisgender participants. Taken together, these findings challenge the hypothesis that autism in gender-diverse youth is merely a ‘phenomimic’ of autism and provide valuable clinical insights into the presentation of autism in this population.Lay abstractIn recent years, more young people have been referred to specialised gender clinics for support with their gender identity. Interestingly, about 11% of these young people are also diagnosed with autism-much higher than the general population rate of only around 1%. This overlap has raised important questions about how autism and gender diversity are related, and even whether autism traits in gender-diverse people with an autism diagnosis really reflect autism. In this research, we carried out two studies to understand this link better. In the first study, we looked at autism traits in gender-diverse children and adolescents aged 7-16 years who were referred to a gender clinic for issues with their gender identity. We compared them with both autistic and nonautistic children who were not referred to gender services. We used several standard tools to assess autism-related traits, including both questionnaires and clinical interviews. We found that gender-diverse youth who were also autistic showed similar patterns of autism traits as cisgender autistic children who were not exploring their gender. Importantly, nonautistic gender-diverse youth did not show unusually high levels of autism traits, which challenges some earlier studies that suggested they might. In the second study, we explored autism traits in the caregivers (mostly mothers) of the young people in our first study. We found that caregivers of autistic children-whether the children were gender-diverse or not-were more likely to be autistic than the caregivers of nonautistic children. Moreover, even nonautistic caregivers of autistic children displayed more autism traits than caregivers of nonautistic children, irrespective of whether their child was gender-diverse or not. Overall, our findings challenge the idea that autism in gender-diverse youth is just a mimic of ‘true’ autism caused by gender-related stress or experiences. Instead, the results point to genuine autism that presents in a typical way. This research provides important insights for clinicians and families, and highlights the need to take the gender-related concerns of autistic children as seriously as of nonautistic children.
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15. Kimchi-Feldhorn O, Sade AN, Barak B. Myelin, white matter, and social deficits in autism spectrum disorder. Neural Regen Res. 2025.
Autism spectrum disorder is a neurodevelopmental disorder characterized by social interaction challenges, restricted and repetitive behaviors or interests, and communication difficulties. Emerging evidence suggests that disruptions in myelin, the fatty substance that insulates nerve fibers, may play a significant role in shaping the behavioral characteristics observed in individuals with autism spectrum disorder, particularly those related to social behavior. This article provides an overview of current understanding of the interplay between white matter and myelin deficits, social behavior, and autism spectrum disorder. As such, it aims to deepen our understanding of the underlying mechanisms of autism spectrum disorder and potentially contribute to the development of more targeted interventions and support strategies for individuals affected by the disorder.
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16. Lei J, Attwood J, Russell A. Exploring the suitability of the Clark and Wells (1995) model of social anxiety in autistic adults: The role of mental imagery and fear of negative evaluation. Autism. 2025: 13623613251379945.
Around 50% of autistic adults meet diagnostic criteria for social anxiety disorder based on self-report questionnaires. Among non-autistic adults with social anxiety, distorted negative self-imagery in social situations stemming from fear of negative evaluation from observers can be corrected in cognitive therapy via video feedback. However, the role of social imagery in the maintenance of social anxiety has not been explored in autistic adults. This study examined in 62 autistic adults: (1) quality of social imagery elicited during social situations; (2) how image qualities were related to self-reported levels of social anxiety and fear of negative evaluation when accounting for co-occurring generalised anxiety. Many autistic adults reported social imagery from a field (i.e., looking through one’s own eyes) rather than observer perspective. Using response surface analysis (RSA), autistic adults wanted to escape from/avoid social imagery and found them more upsetting when social anxiety was greater than fear of negative evaluation from others. Social imagery may be linked to autistic adults’ somatic and sensory responses related to social anxiety rather than cognitive worries associated with fear of negative evaluation from others in social situations. Future studies can explore how qualitative differences in social imagery may influence maintenance of social anxiety and treatment efficacy in autistic and non-autistic adults over time.Lay abstractMany autistic adults experience social anxiety, which can negatively impact on one’s quality of life and increase risk for developing other mental health difficulties if left untreated. Current treatment for social anxiety involves supporting individuals to identify their worries in social situations and explore how focusing on one’s worries about being judged by others might generate an unhelpful and inaccurate negative image of oneself in social situations. In treatment, individuals use video feedback to look for differences between how they think they might come across to others, versus how they actually come across to others in conversation. Correcting any overly negative and unhelpful images of oneself in social situations is a key step in treatment for social anxiety. To date, little is known about whether autistic adults also generate negative images of oneself in social situations, and whether these images are related to one’s worries about being judged by others. In this study, we interviewed 62 autistic adults and asked them to generate images about relaxed and social situations. Autistic adults found images generated about being in a social situation to be more upsetting and anxiety inducing, less controllable and wanted to escape from/avoid such images. Negative aspects of social images were more related to general feelings of social anxiety rather than specific worries about being perceived negatively by others. We propose that autistic adults may draw on bodily sensations and sensory experiences related to general distress or feelings of discomfort to generate images in social situations. This is different to non-autistic adults where images may be generated based on one’s belief of how others might negative perceive oneself in social situations. Understanding such differences and the role images play in social anxiety for autistic and non-autistic adults can help clinicians better adapt treatment for social anxiety to suit autistic adults’ needs.
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17. Liu W, Wu Y, Wen D, Chen H, Liu J, Wu S, Lin J, Liu Z, Wang X, Li L, Zeng F, Chen R, Jin Y. Parental major life events before or during pregnancy and autistic behaviors among preschool children. Sci Rep. 2025; 15(1): 38217.
In this study, we aimed to examine whether parental major life events before or during pregnancy were associated with autistic behaviors in preschoolers, and whether alcohol use or smoking modified these associations. This study included 18,664 children aged 3-6 years in southern China. Parents reported seven types of major life events before or during pregnancy. Autistic behaviors were assessed by the Clancy Autism Behavior Scale. Logistic regression was applied to evaluate the associations of parental major life events with the risk of autistic behaviors, along with the modifying effects of alcohol consumption and smoking. This study found that paternal exposure to major life events before or during pregnancy was associated with an increased risk of autistic behaviors. Maternal exposure to major life events during pregnancy was associated with a higher risk of autistic behaviors. The associations between paternal pre-pregnancy major life events and autistic behaviors were stronger when either parent consumed alcohol before pregnancy. No modifying effect was shown for smoking. Findings from this study highlighted the importance of monitoring parental stress and alcohol use before and during pregnancy to improve children’s neurodevelopmental outcomes.
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18. Neupane K, Pillalamarri S, Anderson GM. Basal Sympathetic Nervous System Functioning in Autism: A Systematic Review of Neurochemical Studies. J Autism Dev Disord. 2025.
PURPOSE: Sympathetic nervous system (SNS) functioning in autism is of interest etiologically and clinically. It remains unclear whether there is a chronic state of hyperarousal or a heightened physiological response to stressful situations, or both, in autism (ASD). A systematic review of neurochemical studies of SNS functioning in ASD addressed these issues. METHODS: The PubMed, Scopus, Ovid, and Web of Science databases were searched using a first set of search terms consisting of norepinephrine (NE), epinephrine (EPI) and their known metabolites. A second set of terms consisted of relevant diagnostic terms. The sets were combined, and the retrieved studies were screened by three independent reviewers. RESULTS: With one exception, there were no significant differences between groups for the urine measures and for all plasma metabolite measures. However, plasma EPI showed a significant elevation in the ASD group and plasma NE showed a trend level increase. The reported variances were similar in the two groups, and typical nighttime decreases in sympathetic measures were reported in ASD groups. CONCLUSIONS: The results indicate that mean basal SNS functioning is not increased in ASD. In contrast, the plasma EPI and NE findings are consistent with increased reactivity to acute stressors in ASD. There was no indication of an admixture of hyper- and hypo-arousal subgroups and typical nighttime sympathetic diminution was seen in ASD. It appears that sympathetic functioning is not atypical in ASD and that the apparent heightened reactivity to stress is more likely due to increased elicitation of the sympathetic system in ASD.
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19. Pollock A, Krupka Z. Late bloomers: Exploring the emotional landscape of Australian women’s experiences of a late Autism diagnosis. Autism. 2025: 13623613251386983.
Gendered expectations significantly influence how Autism is recognised in women, often contributing to misdiagnosis and delayed identification. This study explored the experiences of Autistic women diagnosed after 30 in Australia. Using a cross-sectional qualitative design, semi-structured interviews were conducted with 10 Autistic women with a median age of 47.5 years. Participants were recruited through purposive sampling on social media, and reflexive thematic analysis was used for data examination, with careful consideration of researcher reflexivity. Seven key emotionally centred themes were identified from the participants’ diagnostic journeys: (1) Frustration at the Barriers Surrounding a Diagnosis, (2) Fear and Self-Doubt on the Path to Self-Acceptance, (3) The Grief of Revisiting the Past, (4) Shock of the New Self, (5) Anger at Being Dismissed, (6) The Relief of Authenticity, and (7) Pride and Belonging in Community. The findings revealed the significant impact of ‘Autistic burnout’ and the challenges of accessing practitioners knowledgeable about Autism in women. Participants expressed a range of emotions stemming from having the validity of their struggles questioned and receiving a notable lack of post-diagnostic support. This study highlights the critical need for inclusive, gender-sensitive diagnosis, as well as greater understanding of the nuanced experiences of Autistic women.Understanding the Emotional Experiences of Australian Autistic Women Diagnosed Later in LifeAutistic women often experience delayed recognition and understanding that they are Autistic due to gendered expectations and stereotypes about Autism. This study explored the experiences of women in Australia who received an Autism diagnosis after the age of 30. It aimed to uncover the challenges they faced and the emotional impact of their diagnostic journey.Ten women participated in interviews where they shared their stories. They described how difficult it was to find professionals who understood how Autism presents in women and discussed the associated emotional toll. The research identified seven key themes that highlight the emotional aspects of their journeys:1. Frustration with the challenges of getting a diagnosis2. Fear and uncertainty while trying to accept themselves3. Sadness and regret when looking back on their past4. Surprise and confusion at discovering new parts of their identity5. Anger at being ignored or dismissed by others6. Relief in understanding and accepting who they truly are7. A sense of pride and belonging within the Autistic communityMany participants described experiencing ‘Autistic burnout’, which is extreme physical, mental, and emotional exhaustion, often due to masking their Autism to meet societal expectations. They also reported feeling invalidated when their struggles were questioned and noted a lack of support after their diagnosis.This study highlights the need for diagnostic practices that consider gender differences and societal influences, as well as better support systems for newly diagnosed Autistic women. Improving these areas could help ensure earlier diagnoses and provide better care, ultimately amplifying the voices of this often-overlooked community.
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20. Prynda M, Niemczyk W, Pawlik AA, Dawiec G, Dawiec M, Kazek B, Mazur M, Pschionko N, Skaba D, Emich-Widera E, Wiench R. Orthodontic Treatment Needs in Children with Autism Spectrum Disorder. J Clin Med. 2025; 14(21).
Background/Objectives: Autism spectrum disorder (ASD) is associated with a higher prevalence of oral health problems, including parafunctional habits and malocclusions, which may lead to increased orthodontic treatment needs. The objective of this study was to evaluate orthodontic disorders and treatment requirements in children with ASD compared to their neurotypical peers. Methods: A cross-sectional study was conducted on 148 children aged 3-12 years, including 74 children with ASD and 74 controls matched for age and sex. Data were collected via caregiver questionnaires and clinical dental examinations. Malocclusions and orthodontic treatment requirements were assessed using the Index of Orthodontic Treatment Need (IOTN), including both the Dental Health Component (DHC) and Aesthetic Component (AC). Statistical analyses included Mann-Whitney U tests, Student’s t-tests, and effect size calculations, with significance set at p ≤ 0.05. Results: Children with ASD exhibited significantly higher orthodontic treatment needs compared to controls, with elevated scores in both IOTN-DHC (p < 0.001) and IOTN-AC (p < 0.001). No significant differences were observed for the mean overjet or overbite between groups. Gender analysis revealed that boys with ASD had significantly higher scores in both IOTN-DHC and IOTN-AC, while girls with ASD differed from controls only in IOTN-AC. Conclusions: Children with ASD are at increased risk for orthodontic treatment, particularly for both health and aesthetic needs, with boys showing the most pronounced disparities. These findings highlight the importance of early orthodontic assessment and tailored preventive strategies in this population.
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21. Qiu J, Hania A. Red flags in global autism data: a forensic analysis of prevalence patterns and official aid dependencies. Front Psychiatry. 2025; 16: 1575940.
INTRODUCTION: The literature extensively examines the global incidence rate of autism, emphasizing the need to scrutinize reported figures for potential anomalies, particularly addressing overdiagnosis concerns. METHODS: Our forensic analysis employing Benford’s Law and Mean Absolute Deviation indicates significant statistical irregularities and potential overdiagnosis, especially post-DSM-5 implementation, suggesting diagnostic criteria changes drive upward trends. The segmented analysis reveals this relationship intensified in low-income countries post-DSM-5 while remaining non-significant in high-income nations. RESULTS: Based on 206 countries over 1990-2019, our findings suggest official aid received causes upward trends in autism cases for both genders. Sub-sample analysis indicates positive effects are pronounced in countries with low income, health expenditures, mental health services, government effectiveness, and weak democracies. Results remain robust through instrumental variable and lagged analyses addressing endogeneity concerns. DISCUSSION: While Benford’s Law suggests overdiagnosis patterns, both genuine increases and diagnostic inflation produce similar empirical results, preventing definitive conclusions. Nevertheless, these statistical red flags warrant future research and governmental vigilance when monitoring dramatic prevalence increases. This research addresses a critical literature gap, encouraging scholarly inquiry into reported autism prevalence complexities.
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22. Rebecchi K. [Not Available]. Vertex. 2025; 36(169, jul.-sept.): 55-61.
Este artículo examina críticamente el legado de Hans Asperger en relación con los diagnósticos contemporáneos del autismo. Aunque se discute ampliamente el « síndrome de Asperger », pocos han abordado sus escritos originales o la literatura histórica más amplia, incluyendo a autores como Grunia Sukhareva, Leo Kanner, George Frankl y Lorna Wing. El texto revisa las contribuciones de Asperger (1938-1980) para aclarar su visión del autismo como un neurotipo distinto con fortalezas y desafíos específicos. Luego contrasta esta perspectiva con la reinterpretación de Wing, en particular su estudio de 1979 y la introducción del término « síndrome de Asperger » en 1981, que destacó déficits sociales y comunicativos, y difuminó las fronteras entre autismo y discapacidad intelectual. El artículo concluye con un análisis de la eliminación del síndrome de Asperger del DSM-5, argumentando que la formulación del DSM-IV reflejaba la adaptación de Wing, y no la visión matizada de Asperger. Este cambio se enmarca en un giro hacia la diversidad cognitiva y la despatologización.
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23. Sapey-Triomphe LA, Bouet R, Mattout J, Sonié S, Schmitz C, Lecaignard F. Systematic Review and Meta-Analysis of Mismatch Negativity in Autism: Insights Into Predictive Mechanisms. Autism Res. 2025.
Mismatch negativity (MMN) has been frequently used to assess auditory processing and change detection in autism spectrum disorder (ASD), but findings have been fairly inconsistent. To address this issue, we conducted a systematic review and meta-analysis of MMN amplitude (76 effect sizes) and latency (62 effect sizes) in ASD to identify factors contributing to this heterogeneity and to interpret findings within the predictive coding framework. While residual heterogeneity remained, significant effects of the interaction between age group and design type (unifeature vs. multifeature, i.e., one or several types of deviants) and deviant type were found for MMN amplitude. In multifeature designs, autistic children and adolescents exhibited reduced MMN amplitudes compared to neurotypical peers (g = 0.25, p = 0.01), whereas autistic adults showed increased MMN amplitudes (g = -0.26, p = 0.02). In addition, autistic individuals had significantly smaller MMN amplitudes than neurotypical individuals in paradigms using phoneme deviants (g = 0.41, p < 0.001). Across designs, no significant MMN latency differences were observed between neurotypical and autistic individuals. These results are discussed within the predictive coding framework, as MMN responses are thought to reflect prediction errors, aligning with theories suggesting heightened prediction errors in autistic adults. Future studies with larger samples and improved data reporting are needed to further clarify the developmental trajectory and variability of MMN responses in ASD. Additionally, computational modeling approaches can help characterize learning dynamics and disentangle predictive coding accounts among autistic individuals.
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24. Shen M, Jing Y, Liu Q, Li C, Xu N. Visualization analysis for emotional characteristics of autism spectrum disorder from cinemetrics perspective. Front Public Health. 2025; 13: 1608608.
The attention paid to Autism Spectrum Disorder (ASD) in film art and audiovisual communication has promoted the popularization of ASD knowledge and the development of treatment and education measures. As society pays more attention to ASD research and education, the limitations of traditional qualitative research methods are gradually becoming apparent, particularly in the dynamic and nuanced quantification of emotional characteristics, which hinders the practical application of research results. As an emerging research paradigm, cinemetrics provides new perspectives for film research. In this paper, 20 Chinese autism-themed films with 2,627 shots are selected and statistically analyzed in terms of style, rhythm, and space for their emotional character clips. Average Shot Length (ASL) and Median Shot Length (MSL) are compared using a Paired Samples t-test (t = 5.620, p < 0.001) to verify the statistical significance of rhythmic differences. The results indicate that the emotional characteristics of autistic individuals in various films differ significantly in terms of shot length, editing rate, camera movement, and composition. It is found that ASL values are consistently higher than MSL values indicates a systematic rhythmic pattern rather than random fluctuation, providing a reliable quantitative basis for further analysis. These quantitative analyses provide objective data support for the study of the emotional characteristics of ASD, and also offer potential references for practical applications such as expression recognition training and movement regulation programs. This paper can help the public to understand the emotional state of ASD people and open up new paths for future investigation of ASD intervention.
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25. Taluri S, Percy AK, Ananth AL. Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies. Pediatr Neurol. 2025; 175: 67-71.
There has been remarkable progress made in the understanding of Rett syndrome, with only 57 years between the description of a phenotype and its first FDA-approved treatment. In this review, we will discuss this history and the genetics of Rett syndrome and examine the clinical features of the condition, with particular attention to the progression of symptoms over time. Genotype-phenotype correlations will be reviewed. Clinical management strategies, including specific symptom management and disease modifying therapy, will be discussed. The review will end with a brief discussion of current and future research directions.
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26. Tsuji Y, Nishiguchi Y, Noda A, Imaizumi S. Autistic Traits and Temporal Integration of Auditory and Visual Stimuli in the General Population: The Role of Imagination. Multisens Res. 2025: 1-31.
Autistic individuals experience temporal integration difficulties in some sensory modalities that may be related to imagination difficulties. In this study, we tested the hypotheses that among Japanese university students in the general population, (1) higher autistic traits and (2) greater imagination difficulties are associated with lower performance in tasks requiring temporal integration. Two tasks were used to assess their temporal integration abilities: a speech-in-noise test using noise with temporal dips in the auditory modality and a slit-viewing task in the visual modality. The results showed that low performance in the speech-in-noise test was related to autistic traits and some aspects of imagination difficulties, whereas the slit-viewing task was related to neither autistic traits nor imagination difficulties. The ability to temporally integrate fragments of auditory information is expected to be associated with performance in perceiving speech in noise with temporal dips. The difficulties in perceiving sensory information as a single unified percept using priors may cause difficulties in temporally integrating auditory information and perceiving speech in noise. Furthermore, the structural equation modeling suggests that imagination difficulties are linked to difficulties in perceiving speech in noise with temporal dips, which links to social impairments.
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27. Walpert DM. Autism, dementia and community nursing. Br J Community Nurs. 2025; 30(11): 501-2.
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28. Wang HT, Fu XT, Wang YF, Liu LY, Liu ZZ, Xu HA. Chd8 Deficiency in Zebrafish Causes Autism-Like Behavioral Deficits. J Integr Neurosci. 2025; 24(10): 44414.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic and environmental components. Despite progress made over the past decades, no effective therapies targeting the core symptoms of ASD are currently available. More research is required to explore the underlying mechanisms of ASD and discover potential therapeutic targets. Chromodomain helicase DNA-binding protein 8 (CHD8) is one of the most significant high-confidence ASD risk genes identified to date. However, the precise roles and mechanisms of CHD8 in neurodevelopment and behaviors remain incompletely understood. Zebrafish represent an emerging model organism for ASD research. While several zebrafish models with Chd8 disruption have been established, behavioral consequences have not been thoroughly characterized. METHODS: Leveraging the high survival rate of homozygous Chd8 mutant males, we comprehensively assessed their behaviors. RESULTS: The mutants exhibited social deficits across multiple assays, including shoaling, social interaction and three-chamber social preference test. Additionally, anxiety-like behavior, locomotor coordination deficits, and macrocephaly were observed. These phenotypes closely resemble the symptoms in patients carrying disruptive CHD8 mutations. CONCLUSIONS: Our findings establish this Chd8 mutant zebrafish line as a robust model for investigating ASD pathological mechanisms and screening for potential therapies.
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29. Weiss K, Vermudez SAD, Freitas G, Dogra S, Meadows MJ, Gogliotti RG, Niswender CM. Reciprocal regulation of the H (3) histamine receptor in Rett syndrome and MECP2 Duplication syndrome: implications for therapeutic development. bioRxiv. 2025.
Rett syndrome (RTT) and MECP2 Duplication syndrome (MDS) are disorders caused by reciprocal decreases and increases, respectively, in expression of the methyl reader protein, Methyl CpG Binding Protein 2 (MeCP2). MeCP2 is a transcriptional regulator that induces changes in the expression of thousands of genes. We previously performed an mRNA expression profiling study of the temporal cortex region from a cohort of autopsy samples from patients diagnosed with RTT and corresponding age, postmortem interval, and sex-matched controls. These studies identified a significant reduction in the expression of the histamine H (3) receptor ( HRH3 ) in RTT patients compared to controls. In the current manuscript, we expand this H (3) receptor profiling to additional RTT patient brain samples representing distinct disease mutations and confirm significantly reduced levels of H (3) receptor expression in the majority of patients compared to controls. Using mouse models of RTT and MDS, we observed reciprocal changes in H (3) receptor expression across various brain areas, with Hrh3 expression being reduced in RTT model animals and increased in a mouse model of MDS. We then tested the hypothesis that phenotypes in these mouse models would be sensitive to an H (3) receptor agonist and antagonist, respectively. This point is particularly salient for MDS, as there are no approved treatments available; encouragingly, however, the H (3) antagonist/inverse agonist pitolisant (Wakix®) has recently been approved for the treatment of narcolepsy, and we sought here to determine if there was potential to repurpose pitolisant for MDS. We evaluated both a small molecule agonist of the H (3) receptor, ( R )-α-methylhistamine (RAMH), and pitolisant in RTT and MDS models, respectively, to determine impacts on phenotypes in these disease models. Our results show that RAMH significantly impacted an anxiety phenotype in mice modeling RTT ( Mecp (Null/+) ), but pitolisant had no effect on the behaviors examined here in MDS animals ( MECP2 (Tg1) ).
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30. Whaling KM, Crehan E, Loftin R. Streamlining Adult Autism Diagnosis: High-yield DSM-5-TR Predictors and Sex-Based Considerations. J Autism Dev Disord. 2025.
PURPOSE: This study examined which DSM-5-TR criteria most strongly predict autism diagnosis in adults and whether predictive patterns differ by sex assigned at birth. METHODS: A team of neurodivergent researchers designed and carried out the study with input from autistic psychologists and community members. The participants were English-speaking adults who sought telehealth services from an autism mental health service provider. A convenience sample of 234 adults (mean age 34.25 years, 72.2% assigned female at birth) underwent an autism evaluation through a telehealth organization. Licensed psychologists rated seven DSM-5-TR domains on a 0-2 scale based on structured interviews and standardized measures. Ridge penalized logistic regression was used. RESULTS: Results indicated that social-emotional reciprocity (OR = 5.21) and nonverbal communication (OR = 4.82) were the strongest predictors of autism diagnosis, followed by relationship differences (OR = 3.63), need for routines (OR = 2.57), and repetitive behaviors (OR = 2.20). Intense interests and sensory processing differences showed limited predictive utility. Sex assigned at birth did not meaningfully enhance diagnostic prediction beyond core symptom presentation, except for a modest interaction effect with nonverbal communication in individuals assigned female at birth. CONCLUSIONS: These findings suggest clinicians may benefit from prioritizing assessment of social-emotional reciprocity and nonverbal communication domains when evaluating adults for autism, potentially improving diagnostic efficiency and accuracy.
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31. Witwer AN, Wallace JN. Editorial: Persistent Challenges in Addressing the Mental Health Needs of Autistic People and a Suggested Way Forward. J Am Acad Child Adolesc Psychiatry. 2025.
It is well documented that autistic people are at an increased risk for co-occurring mental health challenges and suicide.(1) There is also a robust and ever-growing body of literature delineating the challenges of meeting the varied mental health needs of autistic children, adolescents, and adults-most notably, access to efficacious treatments. For those who are able to access services, there are concerns about ableism and the failure of clinicians to understand how autistic characteristics may interact with mental health presentation and treatment response. Access difficulties are exacerbated by the general lack of disability- and autism-related content in curricula of preprofessional programs, resulting in a workforce who report being ill prepared to work with this population.(2,3) It is imperative to have evidence-based mental health treatments. Equally important is the method by which such treatments are developed, studied, and disseminated. The autism community has identified key considerations for researchers who study treatment development, implementation, and dissemination.(4,5) Most notable is the inclusion of and collaboration with autistic people, from all stages of research, treatment conceptualization through dissemination, and examining outcomes that matter to them. The emergence of rigorous randomized controlled trials (RCTs) such as those by White et al.(6) are a strong step forward in addressing issues about efficacious treatment, as well as inclusion of the autistic community. As such, the White et al.(6) study can serve as a model for others. Furthermore, the research community needs to diversify the composition of study participants, and as a field we need to turn more focus toward dissemination and training, both of which are imperative for improving access.
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32. Wootton O, Campbell P, Richardson S, Lindsay SJ, Huang QQ, Delage E, Amanat S, Wong HS, Firth HV, Hurles ME, Simpson MA, Radford EJ, Martin HC. Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders. Genome Med. 2025; 17(1): 134.
BACKGROUND: Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute. Little is known about the interplay between prematurity and genetic variation in influencing phenotypic outcomes in DDs, nor about how genetic factors may contribute to risk of preterm birth in DDs. METHODS: We leveraged phenotypic and genetic data from 21,712 patients with DDs recruited for clinical sequencing, 16% of whom were born prematurely. Using multivariable regression models, we compared phenotypic features and the prevalence of diagnostic genetic variation in specific genes between preterm and term individuals with DDs. We tested whether the fraction of cases attributable to de novo mutations differed between term and preterm probands. Additionally, we assessed whether associations between common variant contributions to education-related traits and prematurity are explained by direct genetic effects. RESULTS: Prematurity was associated with more severe clinical phenotypes among these DD patients, including more affected organ systems and more delayed developmental milestones. Prematurity and the presence of a monogenic diagnosis contributed additively to severity. We found that genes associated with fetal anomalies were enriched for diagnostic mutations among preterm individuals (p = 7.83 × 10(-5)). We also demonstrated an exome-wide enrichment of de novo mutations (DNMs) in both term and preterm probands; the fraction of cases explained by DNMs in known DD-associated genes was higher in term than preterm cases (25% versus 20%) but DNMs in as-yet-undiscovered genes likely contribute approximately equally to both groups (14% versus 13%). Finally, we showed that the positive association between polygenic predisposition to education-related traits and gestational duration is likely to be the result of genetically influenced parental traits or confounders, rather than direct genetic effects in the child, and that a monogenic diagnosis modifies this association. CONCLUSIONS: Our findings emphasise the importance of considering environmental factors like prematurity in understanding outcomes in DDs suspected to have a genetic component, and motivate further exploration of the role that genetic variation plays in influencing prematurity.
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33. Wurth P, Fuermaier AB, Strand AH, Thorell LB. Diagnosis acceptance, masking, and perceived benefits and challenges in adults with ADHD and ASD: associations with quality of life. Front Psychiatry. 2025; 16: 1668780.
OBJECTIVES: Research has increasingly focused on neurodivergent individuals’ acceptance of their diagnosis and the extent to which they engage in masking behaviors. However, there is a lack of large-scale quantitative investigations. This study, therefore, examined how young adults with attention deficit hyperactivity disorder (ADHD) and/or autism spectrum disorders (ASD) perceive and relate to their diagnosis in terms of diagnosis agreement, diagnosis liking, masking, perceived benefits/challenges, and how these constructs are related to one another and to quality of life. METHODS: The sample included adults with ADHD (n = 803), ASD (n = 158), or both ADHD and ASD (n = 95). Participants (aged 18-35; 79% females) completed an online survey assessing diagnosis acceptance, perceived benefits and challenges, masking, and quality of life. RESULTS: The participants reported high agreement with their diagnosis (95%), but fewer liked their diagnosis (29%), and masking behavior varied by context. Participants reported experiencing both benefits (e.g., « seeing things my own way » and « drive to find things out ») and challenges (e.g., « mentally exhausting » and « being misunderstood ») related to their diagnosis. Quality of life was associated with all other variables, but most strongly associated with perceived benefits. CONCLUSIONS: This study shows that adults with ADHD and/or ASD generally agree with their diagnosis, but the extent to which they like their diagnosis varies. Masking is commonly reported and depends on the context. Perceiving benefits was the variable most strongly associated with quality of life, highlighting the importance of clinical approaches promoting strength-based perspectives rather than a strict deficit approach.
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34. Yeh K, Shakarji J, Susi A, Nylund CM, Flake E. The Impact of COVID-19 on Autism Diagnosis and Incidence in the Military Health System. J Autism Dev Disord. 2025.
PURPOSE: To determine the effect the COVID-19 pandemic had on autism spectrum disorder (ASD) diagnosis in the Military Health System (MHS). METHODS: Repeated cross-sectional study utilized MHS Data Repository from JAN2018 to FEB2023. ASD encounters identified by ICD-10 diagnosis codes. Incident ASD encounters and overall visits were evaluated. Study included periods: Pre-COVID (PCo) (1/18 -2/20), COVID-19 Year (CoY) CoY1(3/20 -2/21), CoY2(3/21 -2/22) and CoY3(3/22 -2/23). Incident rates and overall visits were compared across time periods using Poisson regression, adjusting for sex, age group, region, and parent rank. Median age at first diagnosis across time periods were compared using generalized linear modeling. RESULTS: 2 million dependents ages 1-17 years were eligible for care over the study, with 44,508 incident ASD diagnoses (Table 1). ASD diagnosis incident rate decreased 10% in CoY1 vs. PCo (RR 0.90, 95% CI 0.87-0.93) and increased during CoY2 and CoY3 [RR2 1.21, 95% CI (1.18-1.24), RR3 1.50, 95% CI (1.46-1.54)]. CoY1-CoY3 vs. PCo all had statistically significant increased ASD visit rates (RR1 1.20, RR2 1.44, RR3 1.67). ASD diagnosis median age was 6 years (Table 1). CONCLUSION: The incidence of ASD and related encounters decreased at the COVID-19 pandemic onset, highlighting the impact COVID-19 had on a delayed process within the MHS. The ASD incidence and encounters following the pandemic onset improved and continued to increase through CoY3. This uptrend suggests adaptation by providers during COVID-19 restrictions to use telehealth for developmental screening and ASD diagnosis.
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35. Zhang H, Chen S, Yu J, Chen F, Yan J, Wang L. Capability well-being in mothers and fathers of autistic children: a cross-sectional study from China. BMC Psychol. 2025; 13(1): 1204.
BACKGROUND: Parents of autistic children often experience reduced well-being, with most studies focusing on negative outcomes. However, fewer studies have applied capability approach to assess parental abilities to achieve positive functioning. This study aims to evaluate well-being in parents of autistic children, with a particular attention to differences between mothers and fathers. METHODS: We conducted a cross-sectional study of 366 parents of children aged 1–17 years with a definitive diagnosis in China, including 318 mothers and 48 fathers. Parental well-being was assessed using the Investigating Choice Experiments Capability Measures for Adults (ICECAP-A), which captures key domains of well-being. We employed the United Kingdom tariffs to calculate index scores of the ICECAP-A. Stepwise multivariate linear regression models were performed to identify predictors of parental well-being. RESULTS: The mean score of the ICECAP-A among parents was 0.672 (SD 0.214), with a significant gender disparity (p = 0.012, rank-biserial correction = 0.131, 95%CI [0.030, 0.227]). Mothers perceived a lower level of well-being than fathers in the domains of autonomy (β=-0.022, p < 0.01) and achievement (β=-0.021, p < 0.001). Risk factors for impaired parental well-being included more severe autistic symptoms, lower socioeconomic status of parents, and a considerably longer time spent on caretaking of the child. CONCLUSIONS: Professionals should prioritize gender-specific intervention programs tailored to the distinct needs of mothers and fathers, and actively promote and facilitate father involvement in the childcare. Evidence-based psychosocial support services need to be specifically designed for high-risk parent populations, especially those facing intensive caregiving burdens, socioeconomic disadvantages, or parenting autistic children with more severe symptoms.
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36. Zhao Q, Luo Y, Mei X, Shao Z. Functional connectivity alterations in high-functioning preschool boys with autism spectrum disorder. Appl Neuropsychol Child. 2025: 1-11.
Information processing impairments are associated with the social and sensory symptoms of autism spectrum disorder (ASD). Functional connectivity forms the basis of information exchange and integration. Previous research has shown atypical functional connectivity patterns in school-aged children, adolescents, and adults with ASD. However, connectivity alterations in children with ASD in preschool years, a critical period for brain and cognition function development, are yet to be explored. Here, we compared resting-state EEG functional connectivity between high-functioning preschool boys with ASD and typically developing (TD) peers and investigated the relationships between functional connectivity and symptom severity of ASD as measured by the Childhood Autism Rating Scale (CARS). Network-based statistic (NBS) identified five intrahemispheric (left prefrontal-left central, left frontal-left central, left central-left occipital, right central-right parietal, and right temporal-right parietal) and four interhemispheric (left prefrontal-right central, left central-right parietal, left occipital-right parietal, and left parietal-right temporal) decreased long-range connections in the delta (1-4 Hz) band in ASD. Cliff’s delta analysis indicated all of the alterations were of large effect sizes. Correlation analysis further revealed significant relationships between dysconnectivity and symptom severity of ASD. Findings remained significant after Benjamini-Hochberg correction. Specifically, decreased left prefrontal-right central connectivity was correlated with worse « relationship to people » and better « activity level, » impaired right central-right parietal and left frontal-left central connections were individually associated with severe « listening response, » and reduced left central-left occipital connectivity was related to better « taste-smell-touch response and use. » In conclusion, this study suggests a trend of weakened long-range functional connectivity in high-functioning preschool boys with ASD and highlights its influence on the symptoms of ASD. Larger-scale studies are required to verify its potential as a biomarker for early screening, diagnosis, and neurophysiological intervention strategy planning of ASD.
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37. Zyapbarov AM, Bakanova AS, Ivanova DV, Ziganshin AU. Effect of Dimephosphone on the Mechanical Activity of the Bladder in Rats with a Model of Autism. Bull Exp Biol Med. 2025; 179(4): 430-2.
The valproate model of autism was used to evaluate the effect of a course of dimephosphone administration (intragastric, 50 mg/kg, 30 days) on contractions of the isolated bladder of rats induced by application of carbacholine (10(-7)-10(-5) M), α,β-methylene-ATP (10(-7)-10(-5) M), and stimulation with an electric field of different frequencies (1-20 Hz). In rats with the valproate model of autism, the strength of carbacholine-induced bladder contractions was significantly higher than in control (intact) rats. Against the background of dimephosphone administration, carbacholine-induced contractions reached the control level. Similar results were obtained with electric field stimulation. However, when evaluating the effect of dimephosphone on bladder contractions caused by α,β-methylene-ATP, no significant changes were found. Dimephosphone, when administered in a course, normalizes bladder contractility in rats with the valproate model of autism.
