Autism Research最新文献

Although insistence on sameness (IS) and compulsions occur across a wide range of neurodevelopmental (NDD) and neuropsychiatric (NPD) conditions, they are typically only examined within the confines of specific singular disorders. Indeed, while anxiety has been consistently linked to IS in autism and compulsions in obsessive-compulsive disorder (OCD), no empirical study has examined these associations in a sample spanning a range of NDD and NPD. Therefore, this study utilized a large sample of children and adolescents spanning several NDD and NPD to examine whether anxiety shows different patterns of association with IS or compulsions within and across diagnostic groups. The transdiagnostic sample encompassed youth (mean age = 10.36 [3.40]; N = 1852) diagnosed with autism (N = 387), attention-deficit hyperactivity disorder (ADHD; N = 931), internalizing disorders (N = 208), OCD/Tic disorder (N = 59) and oppositional defiant/conduct disorder (ODD/CD; N = 267). IS and compulsions were assessed using the Repetitive Behavior Scale-Revised, and anxiety using the Screen for Child Anxiety Related Disorders. Within-group comparisons revealed that, in the autism, ADHD, and OCD/Tic groups, anxiety showed a slightly stronger association with IS than compulsions although effect sizes indicated small to no effect (q < 0.24). Between-group comparisons showed that interrelationships between anxiety, IS, and compulsions did not differ across groups, except for the association between IS and compulsions, which was slightly weaker in the ADHD group compared to the autism (z = 4.20) and ODD/CD groups (z = 3.32). Findings affirm the transdiagnostic nature of IS and compulsions and suggest that anxiety plays a key role in these behaviors, irrespective of primary diagnosis.

Individuals with autism spectrum disorder have significant difficulties in social competence. This study provided empirical evaluation of the theoretical model by Kennedy and Adolphs (2012) positing that social competence relies on an interconnected network of four components: social brain, cognition, behavior, and functioning. Data from 243 youth (69 female, 174 male), age 10–17 years, were used to test the hypothesized mediation effect of social cognition (Theory of Mind) from social brain (event-related potential markers of face perception and memory) to social behavior (Contextual Assessment of Social Skills) and functioning (Child Behavior Checklist). An additional analysis evaluated whether the structure of the social competence model varied based on the biological sex of the autistic participants. The findings support the conceptual model of social competence where the social brain's contributions to social behavior and functioning are mediated by social cognition, with an additional direct path between the brain and behavior. The relationship among the four components of social competence is not significantly different for autistic males and females. Social competence is best represented as a network of direct and indirect connections among the neural, cognitive, and behavioral components. Thus, focusing on any single element is not sufficient for effective design of novel assessment and treatment approaches in autism. The findings also highlight the importance of self-initiated active engagement with social cues as a contributor to successful social behavior and functioning in autism.

In this cross-sectional study, participants were recruited through convenience sampling from the Children's Mental Health Research Center at The Affiliated Brain Hospital of Nanjing Medical University and the Department of Ophthalmology at The First Affiliated Hospital of Nanjing Medical University, Nanjing, China, between December 2019 and October 2024. A total of 200 eyes were ultimately enrolled in this study, sourced from 53 individuals with ASD, aged between 7 and 13 years, and an equal number of age- and sex-matched neurotypical (NT) controls. The aim of this research is to explore the changes in retinal and choroidal vasculature in children with ASD, evaluated through optical coherence tomography and its angiography, and to further investigate the potential value of retinal vascular characteristics in the auxiliary screening and diagnosis of ASD. We analyzed intergroup differences in perfusion density (PD), vessel density, flux index (FI), fractal dimension (FD), and vessel diameter (Dm) in the peripapillary region, further stratified by subquadrants and vessel types. The results show that ASD children exhibited significant differences compared to neurotypical controls, including increased PD and Dm in the supero-nasal quadrant (p < 0.01), changes in capillary FI in the nasal quadrant (p = 0.008), increased venous FD (p = 0.009), and abnormal choroidal FI in the temporal quadrant (p = 0.008). A random forest classification model constructed based on these key features demonstrated promising performance (AUC = 0.7853) in distinguishing ASD from NT individuals, highlighting the potential of retinal vascular characteristics for auxiliary ASD screening. Moreover, retinal vascular parameters were significantly correlated (p < 0.01) with blood oxygen level-dependent signals from functional magnetic resonance imaging in several brain regions, such as the amygdala (p = 0.004–0.009) and temporal lobe (p = 0.000–0.009). Further stepwise regression analysis indicates that key retinal vascular characteristics could partially predict core clinical features of ASD, such as social functioning (adjusted R ²  = 0.091–0.104, quantified by total and subscale scores of Social Responsiveness Scale) and cognitive ability (adjusted R ²  = 0.2785, quantified by total intelligence quotient scores). This study underscores the potential of retinal vascular features as biomarkers for ASD and provides a basis for future research on non-invasive retinal imaging-based approaches for ASD screening and diagnosis, while offering new perspectives for understanding the pathological mechanisms and clinical applications of ASD.

Autism is characterized by distinct patterns of social communication, interests, and behaviors. Gender incongruence involves a mismatch between one's experienced and assigned gender, often accompanied by significant distress (i.e., gender dysphoria). Recent studies revealed that autistic individuals report gender dysphoria more frequently than the general population and are overrepresented in gender clinic settings. Autistic individuals also report hypersensitivity to certain sensory stimuli, which can elicit distress. When this distress is triggered by certain auditory stimuli (e.g., one's or others' biological sounds such as chewing or swallowing) it is categorized as misophonia. Misophonia appears to be highly prevalent in autism. We propose that a lesser-studied phenomenon, puberphonia, could exemplify an attempt to reduce the distress elicited by misophonia in a certain category of individuals. Puberphonia is characterized by an unusually high-pitched voice, predominantly in teenage boys and men, that can occur in the absence of identifiable physical causes. The psychogenic aspects of puberphonia are just beginning to be explored. We hereby propose an exploratory direction, suggesting that puberphonia may be an individual's attempt at diminishing a distressing auditory stimulus (misophonia) due to their deepening voice. This, in turn, may be an indicator of unrecognized gender dysphoria. Given that voice pitch has also been reported to be higher in autistic males compared to controls, we further ask whether autism is more prevalent among cases of psychogenic puberphonia. Finally, we wish to draw attention to the need for research on the epidemiology and overlap of puberphonia, gender dysphoria, misophonia, and autism.

Children with autism spectrum disorder (ASD) exhibit a high prevalence (55%) of gastrointestinal symptoms (GISs) and gut dysbiosis. Most studies involving children with ASD have focused on behavioral symptoms but not GISs. This systematic review and meta-analysis investigated the effects of gut microbiota–modulating interventions (GMMIs) on GISs and gut microbial composition in children with ASD. Five databases were searched for relevant domestic and international articles published from database inception until July 15, 2024. The meta-analysis included human trials wherein children with ASD received prebiotics, probiotics, synbiotics, or fecal microbiota transplantation. Intervention effects were measured on the basis of α-diversity, and genus- and phylum-level data were analyzed using a random-effects model and forest plots. This study included 19 trials (n = 1154). The results indicated that GMMIs significantly ameliorated GISs (p = 0.0017), reduced six-item Gastrointestinal Symptom Index scores by 1.86 points (p = 0.0187), and significantly increased the relative abundance of Bifidobacterium spp. (p = 0.0205). Longer interventions (≥ 8 weeks) were more effective in ameliorating GISs. Limitations in this investigation include the fact that the included studies neither incorporated any dietary control groups nor collected relevant dietary data, and the relatively small sample size (19 studies) may have hindered the identification of sources of heterogeneity in the pooled results. Overall, our findings suggest that GMMIs, especially probiotics, ameliorate GISs in children with ASD by modulating gut microbial composition, particularly by increasing the relative abundance of Bifidobacterium spp. These interventions may alleviate symptoms such as constipation, diarrhea, abnormal stool consistency and smell, flatulence, and abdominal pain. Our evidence supports that treatments involving GMMIs can be considered for children with ASD.