Autism Research最新文献

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.

In this commentary, we present new ideas about autistic neologisms. This essay has two primary goals. First, we argue that an autistic predilection to form neologisms generates intriguing new hypotheses about language in autism, including the possibility that a tendency to use neologisms could be a featural element of an autistic “linguatype” (as in “phenotype”). Second, we suggest that the study of neologism meaning, form, and use can yield insights about a specific speaker and about autistic language, generally. To support both aims, we present the largest collection to date of autistic neologisms. We supply an initial framework for considering and analyzing them, and we apply this framework to some of our collected examples, showing how individual neologisms can offer insights about their creators. Importantly, we suggest that neologism creation may sometimes signify linguistic giftedness, pushing back against traditional notions suggesting autistic neologisms are always evidence of language deficit. We hope this exercise will convince our community that autistic neologisms are deserving of more scientific attention and study. More broadly, by demonstrating the potential value of one feature of autistic language, we aspire to advance collective appreciation for the complexity of autistic language and thought.

Over the past 10 years, research has suggested no negative effect on second language exposure in children with autism spectrum disorder (ASD), yet, parents and professionals may be concerned that using a second language with a child with ASD may negatively impact their communication and cognitive skills, especially if the child also has an intellectual disability. In this study, 396 children and adolesents (5–16 years) with and without ASD and with and without second language exposure participated in the study. Parents reported on language exposure and rated executive function (EF) and functional communication (FC) skills using a standardized questionnaire. IQ was directly measured using the WASI-II and children were classified as having an intellectual disability if they had a full-scale score of less than 70. The sample included 18 children with ASD and an intellectual disability (10 without second language exposure, 8 with second language exposure). Results showed that children with ASD and second language exposure had significantly better EF skills and were significantly less likely to have executive dysfunction in the clinical range than children with ASD with no second language exposure. Second language exposure also did not have a negative impact on EF skills in children with ASD even when an intellectual disability was present. For FC skills, we failed to find significant difference between children with ASD with and without second language exposure. For children with ASD and intellectual disability, there was no significant difference on FC skills between children with and without second language exposure. As our sample of children with ASD and intellectual disability was small, additional research with a larger sample is urgently needed.

The aim of this study was to compare the healthcare trajectories (HCTs) 2 years after a first diagnosis of autism according to sex, age at diagnosis, and intellectual or developmental disabilities (IDD) status. This is a retrospective cohort study using health administrative data from Québec, Canada. The cohort included all individuals with a first diagnosis of autism registered by a physician between April 2012 and March 2015. HCTs were stratified by sex, presence of IDD, and age at diagnosis (youth, adult), and analyzed using state sequence analysis across healthcare settings, providers, and reasons for use. Our cohort included 5289 individuals, 76.6% were male, and 26.3% were adults at the time of diagnosis. The healthcare use decreased slightly over time, though intensity was higher in females. Sex differences in HCTs were strongly influenced by IDD status and age at diagnosis. While no significant sex differences were observed in HCTs for individuals with IDD diagnosed with autism in adulthood, the psychiatric condition profiles showed notable differences between males and females. Hospital days nearly doubled for females diagnosed in childhood compared to males, while males with IDD diagnosed with autism in childhood and males without IDD diagnosed in adulthood had fewer physical illness visits. Although physical and mental health challenges appear largely managed in ambulatory care during youth, high hospitalization rates in those diagnosed in adulthood, particularly females and those with IDD, highlight concerns about continuity of care and avoidable hospitalizations for these subgroups of patients.

A small behavioral literature on individuals with autism spectrum disorder (ASD) has shown that they can be impaired when navigating using map-based strategies (i.e., memory-guided navigation), but not during visually-guided navigation. Meanwhile, there is neuroimaging evidence in typically developing (TD) individuals demonstrating that the retrosplenial complex (RSC) is part of a memory-guided navigation system, while the occipital place area (OPA) is part of a visually-guided navigation system. A key identifying feature of the RSC and OPA is that they respond significantly more to pictures of places compared to faces or objects—i.e., they demonstrate scene-selectivity. Therefore, we predicted that scene-selectivity would be weaker in the RSC of individuals with ASD compared to a TD control group, while the OPA would not show such a difference between the groups. We used functional MRI to scan groups of ASD individuals and matched TD individuals while they viewed pictures of places and faces and performed a one-back task. As predicted, scene-selectivity was significantly lower in the RSC, but not OPA, in the ASD group compared to the TD group. These results suggest that impaired memory-guided navigation in individuals with ASD may, in part, be due to atypical functioning in the RSC.