Autism Research最新文献

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.

Despite increasing rates of autism spectrum disorder (ASD) in many countries, substantial evidence suggests persistent underdiagnosis of ASD in many low and middle-income countries, such as Brazil. Underdiagnosis or misdiagnosis may be particularly prevalent among women who often present subtler social and behavioral characteristics, engage in camouflaging strategies, and exhibit different symptom expressions compared to men. This study evaluates two new instruments to improve screening for ASD among adults in Brazil: the Screening for Autism in Adults (SfA-A) and the Screening for Autism in Females (SfA-F). A sample of 3302 Brazilian adults (mean age = 37.55 ± 11.34 years) completed the SfA-A, while 7738 Brazilian adult women (mean age = 38.77 ± 10.28 years) completed the SfA-F. Exploratory Structural Equation Modeling was conducted. Reliability was assessed using Cronbach's alpha, McDonald's omega, and test–retest. Criterion validity was determined by the AQ-10 and two autism-related questions. Norms were established based on percentiles. Exploratory and confirmatory factor analyses indicated that the SfA-A and SfA-F exhibited strong model fit, high internal consistency (α > 0.8), and initial evidence of criterion-related validity. The SfA-A and SfA-F were developed to address critical gaps in ASD screening among adults in Brazil. These tools hold promise for identifying ASD symptoms and can be used to initiate formal ASD evaluation.

Children with autism spectrum disorder (ASD) face substantial challenges in understanding emotions, including difficulty in recognizing emotions through nonverbal cues, interpreting others' affective and mental states, and developing emotional vocabulary. Research suggests that the association between emotion recognition and social functioning is mediated by emotional language and cognitive empathy. However, this relationship remains underexplored in autistic children. Addressing this gap was the primary goal of this study, which comprised 116 autistic children (17 females), aged 7–10 (M = 8.26, SD = 0.76). Participants completed a comprehensive assessment battery, comprising multi-modal emotion recognition, cognitive empathy, and emotional language tasks. Social functioning was evaluated through naturalistic observations during free play, supplemented by a parent-reported standardized measure. Path analysis results revealed that after controlling for age, cognitive abilities, and autism severity, the relationship between emotion recognition and social functioning was mediated by cognitive empathy. Additionally, emotional language emerged as a contributing factor, enhancing cognitive empathy and further supporting its role in social functioning. These findings present an indirect path between emotion recognition and social functioning through emotional language and cognitive empathy, highlighting the importance of targeting these components in interventions aimed at promoting social communication and adaptive social skills in autistic children.

Activation of the temporoparietal junction (TPJ) is reduced in autism spectrum disorder (ASD) during social cognitive tasks. Therefore, anodal transcranial direct current stimulation (tDCS) of the TPJ may enhance social cognitive abilities in autistic individuals. In a multicenter, randomized, sham-controlled, double-blind parallel-group Phase-IIa trial, we investigated feasibility, safety, and effect sizes of 10 sessions of anodal tDCS of the bilateral TPJ at 2 mA as an add-on to computer-based social cognitive training in 10- to 17-year-old youth with autism. Feasibility of recruitment was low, with only 11% of screened individuals being randomized to tDCS (N = 12) or sham (N = 12). In contrast, retention in the study, data collection, intervention adherence, and technical feasibility were mostly excellent. No serious adverse events occurred, and stimulation was well tolerated. There were no differences in the prespecified primary outcome social responsiveness between sham and tDCS immediately after the intervention (standardized estimated effect size [ES] = 0.098; 95%-confidence interval [95% CI] −1.043;1.240), but the sham group showed a trend for better social responsiveness at the 4 week follow-up (ES = 1.106; 95% CI −0.054; 2.270). Secondary outcomes including questionnaires and event-related potentials showed improved compulsive behavior and quality of life by tDCS. High technical feasibility, participant retention, and safety highlight the potential of tDCS in autism and may inform future improvements in the feasibility of recruitment. The differential pattern of effect estimates indicates positive, but also potential negative effects of tDCS, which may vary due to tDCS stimulation parameters. The trial was prospectively registered in the German Clinical Trials Register (Deutsches Register für klinische Studien, DRKS, DRKS00014732).

Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi-step analysis could identify gene sets with different loads of protein-altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample (n = 71, 3–12 years) based on higher (> 80; n = 43) and lower ($��⩽�$ 80; n = 28) intelligence quotient (IQ), a gene set variant enrichment analysis identified gene sets with significantly different incidence of PAVs between the two subgroups of autistic children. Significant gene sets were then clustered into modules of genes. Their brain expression was investigated according to the BrainSpan Atlas of the Developing Human Brain. Next, we extended each module by selecting the genes that were spatio-temporally co-expressed in the developing brain and physically interacting with those in modules. Last, we explored the incidence of autism susceptibility genes within original and extended modules. Our analysis identified 38 significant gene sets (FDR, q < 0.05). They clustered in four modules involved in ion cell communication, neurocognition, gastrointestinal function, and immune system. Those modules were highly expressed in specific brain structures across development. Spatio-temporal brain co-expression and physical interactions identified extended genes' clusters with over-represented autism susceptibility genes. Overall, our unbiased approach identified modules of genes functionally relevant to autism pathophysiology, possibly implicating them in phenotypic variability across subgroups. The findings also suggest that autism diversity likely originates from multiple interacting pathways. Future research could leverage this approach to identify genetic pathways relevant to autism subtyping.

Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder associated with episodic memory impairment. Although emotional factors such as arousal, as well as age and depression symptoms, are known to influence episodic memory in neurotypical (NT) populations, how these factors affect memory processes in ASD, which is associated with a higher prevalence of depression, remains unclear. In this large-scale online study, 326 adults (ages 18–67) with or without ASD (n = 163 per group) and varying levels of depressive symptoms rated their experienced arousal of positive, negative, and neutral images and performed a recognition task 48 h later. Adults with ASD reported lower arousal for positive images and exhibited reduced arousal-enhanced memory benefits for both positive and negative images compared to NT adults, independent of depression severity. Age further exacerbated this reduced arousal memory benefit in the ASD group, specifically for positive stimuli. These findings underscore the role of atypical emotional arousal in ASD on episodic memory, with age-related declines suggesting accelerated vulnerability in positive memory retention.