Autism Research最新文献

SYNGAP1-ID is a neurodevelopmental disorder caused by a mutation of the SYNGAP1 gene. Characterized by moderate to severe developmental delay, it is associated with several physical and behavioral issues as well as additional diagnoses, including autism. However, it is not known whether social cognitive differences seen in SYNGAP1-ID are similar to those previously identified in idiopathic or other forms of autism. This study therefore investigated visual social attention in SYNGAP1-ID. Eye movements were recorded across three passive viewing tasks (face scanning, pop-out, and social preference) of differing social complexity in 24 individuals with SYNGAP1-ID and 12 typically developing controls. We found that SYNGAP1-ID participants looked at faces less than the controls, and when they did look at faces, they had less time looking at and fewer fixations to the eyes. For the pop-out task, where social and nonsocial objects (Phone, car, face, bird, and face-noise) were presented in an array, those with SYNGAP1-ID spent significantly less time looking at the phone stimulus as well as fewer fixations to the face compared with the typically developing controls. When looking at two naturalistic scenes side by side, one social in nature (e.g., with children present) and the other not, there were no differences between the SYNGAP1-ID group and typically developing controls on any of the examined eye tracking measures. This study provides novel findings on the social attention of those with SYNGAP1-ID and helps to provide further evidence for using eye tracking as an objective measure of the social phenotype in this population in future clinical trials.

Autism and attention deficit hyperactivity disorder (ADHD) comorbidity in the school population have been understudied. This study estimates its prevalence considering both parents' and teachers' reports and clinical diagnosis. Sociodemographic, clinical, and cognitive data were compared by diagnostic groups: autism, ADHD, autism and ADHD, subthreshold autism spectrum disorder (ASD), subthreshold ADHD, and children without neurodevelopmental conditions. Following a two-phase design, 3727 parents and teachers (1802 preschoolers, 1925 school-age children) participated in the first phase. Subsequently, 781 participants underwent individual assessment for DSM-5 diagnoses. The estimated prevalence of the comorbid diagnosis was 0.51% (0.28%–0.74%), with significant sex differences (0.16% girls, 0.89% boys). The cooccurrence of symptoms of autism and ADHD reported by parents or teachers was 3.2% and 2.6%, respectively. ADHD comorbidity was observed in 32.8% of autistic children and 31.4% of those with subthreshold ASD. ASD comorbidity was observed in 9.8% of children with ADHD and 5.7% of those with subthreshold ADHD. Comorbidity was reported by at least one informant in 95% of children. Only 15.8% of children with autism and ADHD had been previously diagnosed with both conditions. Early detection and accurate comorbidity diagnosis are crucial to address the clinical and socio-educational needs of these children.

Prior work examined how minimally verbal (MV) children with autism used their gestural communication during social interactions. However, interactions are exchanges between social partners. Examining parent–child social interactions is critically important given the influence of parent responsivity on children's communicative development. Specifically, parent responses that are semantically contingent to the child's communication plays an important role in further shaping children's language learning. This study examines whether MV autistic children's (N = 47; 48–95 months; 10 females) modality and form of communication are associated with parent responsivity during an in-home parent–child interaction (PCI). The PCI was collected using natural language sampling methods and coded for child modality and form of communication and parent responses. Findings from Kruskal-Wallis H tests revealed that there was no significant difference in parent semantically contingent responses based on child communication modality (spoken language, gesture, gesture-speech combinations, and AAC) and form of communication (precise vs. imprecise). Findings highlight the importance of examining multiple modalities and forms of communication in MV children with autism to obtain a more comprehensive understanding of their communication abilities; and underscore the inclusion of interactionist models of communication to examine children's input on parent responses in further shaping language learning experiences.

Interpersonal touch plays a crucial role in shaping relationships and encouraging social connections. Failure in processing tactile input or abnormal tactile sensitivity may hamper social behaviors and have severe consequences in individuals' relational lives. Autism Spectrum Disorder (ASD) is characterized by both sensory disruptions and social impairments, making affective touch an ideal meeting point for understanding these features in ASD individuals. By integrating behavioral and physiological measures, we investigated the effects of affective touch on adult individuals with ASD from both an implicit and explicit perspective. Specifically, at an implicit level, we investigated whether and how receiving an affective touch influenced participants' skin conductance tonic and phasic components. At the explicit level, we delved into the affective and unpleasant features of affective touch. Overall, we observed lower skin conductance level in ASD compared to TD subjects. Interestingly, the typically developing (TD) group showed an increased autonomic response for affective touch compared to a control touch, while ASD subjects' autonomic response did not differ between the two conditions. Furthermore, ASD participants provided higher ratings for both the affective and unpleasant components of the touch, compared to TD subjects. Our results reveal a noteworthy discrepancy in ASD population between the subjective experience, characterized by amplified hedonic but also unpleasant responses, and the physiological response, marked by a lack of autonomic activation related to affective touch. This insightful dissociation seems crucial for a deeper understanding of the distinctive challenges characterizing people with ASD and may have implications for diagnosis and therapeutic approaches.

Subjective wellbeing (SWB) represents an individual's perception of wellness that is supported by homeostatic mechanisms. These mechanisms are proposed to be maintained by low negative affect and high positive affect, although less is known about these mechanisms and SWB in autism. The current cross-sectional study aimed to compare patterns of positive affect, negative affect (Positive Affect and Negative Affect Scale), and SWB (Personal Wellbeing Index-School Children) between autistic (n = 53) and non-autistic (n = 49) individuals aged 10–22 years (M_age = 13.97, SD = 3.13). Between-group t-tests revealed that compared with same-age peers, autistic participants scored lower SWB overall (p < 0.001). In both groups average SWB scores fell into the higher range, however, autistic participants were three-times more likely to fall below this range when compared to non-autistic participants. Negative affect had a higher intercept in the autistic sample, but no difference in slopes were observed. A hierarchical multiple regression revealed that diagnosis, positive affect, and negative affect significantly predicted SWB in our sample. Between-group t-tests found no significant difference in positive affect or negative affect across age between the autistic and non-autistic samples. In autistic participants, positive affect increased across age as SWB decreased, whilst negative affect remained stable, a pattern inconsistent with homeostatic SWB. The current study is overall consistent with the homeostatic explanation for SWB within autism; however, we identified potential differences between autistic and non-autistic participants in the contribution of positive affect and negative affect to homeostatic protect mood across development.

Prior research supports the use of natural language sampling (NLS) to assess the rate of speech utterances (URate) and the rate of conversational turns (CTRate) in minimally verbal (MV) autistic children. Bypassing time-consuming transcription, previous work demonstrated the ability to derive URate and CTRate using real-time coding methods and provided support for their strong psychometric properties. (1) Unexplored is how URate and CTRate using real-time coding methods capture change over time and (2) whether specific child factors predict changes in URate and CTRate in 50 MV autistic children (40 males; M = 75.54, SD = 16.45 (age in months)). A NLS was collected at Time 1 (T1) and Time 2 (T2) (4.5 months between T1 and T2) and coding was conducted in ELAN Linguistic Annotator software using a real-time coding approach to derive URate and CTRate. Findings from paired samples Wilcoxon tests revealed a significant increase in child URate (not examiner URate) and child and examiner CTRate from T1 to T2. Child chronological age, Mullen expressive language age equivalent scores, and URate and CTRate at T1 were predictive of URate and CTRate at T2. Findings support using NLS-derived real-time coded measures of URate and CTRate to efficiently capture change over time in MV autistic children. Identifying child factors that predict changes in URate and CTRate can help in the tailoring of goals to children's individual needs and strengths.

The rare genetic variants 16p11.2 duplication and 16p11.2 deletion have opposing effects on brain structure and function, yet are associated with broadly similar clinical phenotypes that include autism, intellectual impairment, psychiatric illness, and motor difficulties. In recent years, studies have identified subtle distinctions between the phenotypic effects of 16p11.2 duplication and 16p11.2 deletion with respect to patterns of autism, intellectual impairment, and psychiatric illness. However, although divergent phenotypic findings in some motor domains have been reported, no study has yet made a comprehensive comparison of motor difficulties between 16p11.2 deletion and 16p11.2 duplication carriers to elucidate points of convergence and divergence. We sought to make such a comparison in a group of 133 16p11.2 deletion carriers, 122 duplication carriers, and 388 familial controls, hypothesizing that motor impairment would overall be greater in deletion than duplication carriers. In a series of regression models, we found that 16p11.2 deletion status tended to predict greater impairment along indices of gross motor function, but less impairment along indices of fine motor function. These findings point to a potential pattern of performance difficulties that could be investigated in future studies. Elucidating motor differences between 16p11.2 duplication and 16p11.2 deletion carriers may help in understanding the complex effect of 16p11.2 copy number variation and other rare genetic causes of autism.

Researchers have begun to explore the characteristics and risk factors for autistic burnout, but assessment tools are lacking. Our study comprehensively examined and compared the psychometric properties of the unpublished 27-item AASPIRE Autistic Burnout Measure (ABM), and personal and work scales of the Copenhagen Burnout Inventory (CBI) to evaluate their efficacy as screening measures for autistic burnout, with a group of 238 autistic adults. Exploratory factor analyses (EFA) revealed a 4-factor structure for the ABM and a 2-factor structure for the CBI personal scale (CBI-P). Factorial validity and dimensionality were examined with four exploratory models which indicated a unidimensional structure for the ABM with an overarching ‘Autistic Burnout’ construct, and multidimensional CBI-P structure comprising two subscales and overarching ‘Personal Burnout’ construct. Other reliability and validity indicators included Spearman correlations, analysis of variance, receiver operating characteristics, sensitivity, specificity, and intra-class correlations (ICC). The ABM and CBI-P were strongly correlated with depression, anxiety, stress, and fatigue. Unexpectedly, correlations between the burnout measures and camouflaging, and wellbeing measures were moderate. Potential overlap between burnout and depression and fatigue was examined through EFA, which supported convergent validity of the ABM and depression measure, while correlations and ICC analyses revealed mixed results. We concluded that the ABM and the CBI-P Emotional Exhaustion subscale were valid preliminary screening tools for autistic burnout. Testing with larger and more diverse autistic samples is required to further examine the psychometric properties of the ABM, and to understand the relationships between autistic burnout and depression, and masking.

This study investigated the factor structure and determined the reliability and validity of the Camouflaging Autistic Traits Questionnaire–Japanese version (CAT-Q-J) among 204 autistic and 410 non-autistic people. Since a confirmatory factor analysis revealed no factor validity of the CAT-Q-J for both autistic and non-autistic adults, an exploratory factor analysis was conducted to ensure the psychometric properties matched those of the original scale as much as possible. The results showed the CAT-Q-J comprised three subscales, a four-item compensation subscale, a five-item masking scale, and a five-item assimilation subscale. The overall CAT-Q-J and all three subscales showed sufficient internal consistency and moderate-to-good and stable test–retest reliability in both the autistic and non-autistic samples. Convergent validity was also supported by the correlations found with measures of autistic traits, well-being, anxiety, and depression. Different from the original CAT-Q, compensation/masking for the autistic sample was not correlated with mental health or autistic traits. The reliability and the validity of the overall CAT-Q-J were confirmed; however, caution should be exercised when interpreting its subscales.

Atypical gaze patterns are a promising biomarker of autism spectrum disorder. To measure gaze accurately, however, it typically requires highly controlled studies in the laboratory using specialized equipment that is often expensive, thereby limiting the scalability of these approaches. Here we test whether a recently developed smartphone-based gaze estimation method could overcome such limitations and take advantage of the ubiquity of smartphones. As a proof-of-principle, we measured gaze while a small sample of well-assessed autistic participants and controls watched videos on a smartphone, both in the laboratory (with lab personnel) and in remote home settings (alone). We demonstrate that gaze data can be efficiently collected, in-home and longitudinally by participants themselves, with sufficiently high accuracy (gaze estimation error below 1° visual angle on average) for quantitative, feature-based analysis. Using this approach, we show that autistic individuals have reduced gaze time on human faces and longer gaze time on non-social features in the background, thereby reproducing established findings in autism using just smartphones and no additional hardware. Our approach provides a foundation for scaling future research with larger and more representative participant groups at vastly reduced cost, also enabling better inclusion of underserved communities.