Autism Spectrum Disorder Traits Research Articles

Barking Up the Wrong Tree-Motor-Sensory Elements as Prodrome in Autism.

Autism spectrum disorder (ASD) has been intensely investigated since the term was first used over 80 years ago. The prevalence of ASD is constantly rising, and, currently, 1:36 children are diagnosed with this disorder. Despite the intense interest in ASD, the origins of this disorder remain obscure. This article explores motor issues and proprioceptive interoception difficulties as the prodrome of ASD. The importance of early intervention in the prognosis of ASD is common knowledge. Yet, since the communicational and social behaviors typical of ASD are observable only after the age of 18 months, diagnosis and early intervention are delayed. Therefore, the quest into the involvement of sensory-motor difficulties as a source of ASD traits, or at least as a potential early indicator, is warranted, with the intention of enabling early diagnosis and early intervention. This article examines the justification for this new avenue of early diagnosis and intervention and may open up a completely different way of viewing ASD. This new point of view may suggest an original path of assessment and intervention in infancy with this group of clients, possibly leading to improved prognosis for children and their families.

Social communication and restricted, repetitive behavior as assessed with a diagnostic tool for autism (ADOS-2) in women with anorexia nervosa.

In anorexia nervosa (AN), the traits of autism spectrum disorder (ASD) are associated with poor outcomes. However, the subtle nature of these characteristics remains poorly understood. We investigated the in-depth patterns of ASD traits using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) in women with AN. Of 28 women with ICD-10 AN, 16 (age 19-30 years) participated in the ADOS-2, a video-recorded, semistructured diagnostic assessment for social communication and interaction and restricted, repetitive behaviors and interests related to ASD. None of the participants had previously been diagnosed with ASD. Other measurements included the Eating Disorder Examination Questionnaire and the Wechsler Abbreviated Scale of Intelligence-IV. Five individuals (18% of all, 31% of those assessed) scored above the cutoff for autism in ADOS-2. They had challenges in social communication and interaction, manifesting as sustained difficulties in social relationships and deficits in conversation skills. Few described being frequently misunderstood by others, including in the eating disorder treatment settings. Three individuals showed prominent restricted and repetitive behaviors such as ritual seeking, eating-related routines, sensory sensitivity related to food texture and selective eating, and intense interest in specific topics. The mean duration of AN in women above the cutoff was twice as long compared with those below (12.3 vs. 6.2 years). The ASD-related characteristics and behavior appear to contribute to the manifestation and duration of AN in a subgroup of women. Among these women, the traits of ASD appear to be mixed with eating disorder symptoms, which should be taken into account in the treatment.

Atypical neural encoding of faces in individuals with autism spectrum disorder.

Individuals with autism spectrum disorder (ASD) experience pervasive difficulties in processing social information from faces. However, the behavioral and neural mechanisms underlying social trait judgments of faces in ASD remain largely unclear. Here, we comprehensively addressed this question by employing functional neuroimaging and parametrically generated faces that vary in facial trustworthiness and dominance. Behaviorally, participants with ASD exhibited reduced specificity but increased inter-rater variability in social trait judgments. Neurally, participants with ASD showed hypo-activation across broad face-processing areas. Multivariate analysis based on trial-by-trial face responses could discriminate participant groups in the majority of the face-processing areas. Encoding social traits in ASD engaged vastly different face-processing areas compared to controls, and encoding different social traits engaged different brain areas. Interestingly, the idiosyncratic brain areas encoding social traits in ASD were still flexible and context-dependent, similar to neurotypicals. Additionally, participants with ASD also showed an altered encoding of facial saliency features in the eyes and mouth. Together, our results provide a comprehensive understanding of the neural mechanisms underlying social trait judgments in ASD.

Effect of Enriched Environment on Cerebellum and Social Behavior of Valproic Zebrafish

The etiology of autism spectrum disorder (ASD) has been linked to both genetic and epigenetic factors. Among the epigenetic factors, exposure to valproic acid (VPA), an antiepileptic and mood-modulating drug, has been shown to induce characteristic traits of ASD when exposed to during embryogenesis. Conversely, in animal models, enriched environment (EE) has demonstrated positive behavioral and neural effects, suggesting its potential as a complementary treatment to pharmacological approaches in central nervous system disorders. In this study, we utilized zebrafish to model ASD characteristics induced by VPA and hypothesized that sensory stimulation through EE could ameliorate the behavioral and neuroanatomical features associated with ASD. To test this hypothesis, we assessed social behavior, cerebellar volume, and Purkinje cell populations via histology and immunohistochemistry after exposing the fish to EE. The results revealed that zebrafish exposed to VPA exhibited social deficits, reduced cerebellar cortex volume, and a decrease in c-Fos-positive cells in the Purkinje layer. In contrast, VPA-exposed fish treated with EE showed increased socialization, augmented cerebellar cortex volume, and an elevation in c-Fos-positive Purkinje cells. These findings suggest that alterations induced by VPA may be ameliorated through EE treatment, highlighting the potential therapeutic impact of sensory stimulation in conditions related to ASD.

Correlation between autistic traits and brain functional connectivity in preschoolers with autism spectrum disorder: a resting state MEG study.

Neurophysiological studies recognized that Autism Spectrum Disorder (ASD) is associated with altered patterns of over- and under-connectivity. However, little is known about network organization in children with ASD in the early phases of development and its correlation with the severity of core autistic features. The present study aimed at investigating the association between brain connectivity derived from MEG signals and severity of ASD traits measured with different diagnostic clinical scales, in a sample of 16 children with ASD aged 2 to 6years. A significant correlation emerged between connectivity strength in cortical brain areas implicated in several resting state networks (Default mode, Central executive, Salience, Visual and Sensorimotor) and the severity of communication anomalies, social interaction problems, social affect problems, and repetitive behaviors. Seed analysis revealed that this pattern of correlation was mainly caused by global rather than local effects. The present evidence suggests that altered connectivity strength in several resting state networks is related to clinical features and may contribute to neurofunctional correlates of ASD. Future studies implementing the same method on a wider and stratified sample may further support functional connectivity as a possible biomarker of the condition.

Intersectionality in Neurodevelopmental Disorders: A Literature Review on Co-Occurrence of Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder – Examining Therapeutic Approaches and Interventions

Purpose: To examine the intersectionality between autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), focusing on the latest research into their co-occurrence, potential shared mechanisms, and implications for diagnosis and treatment.
 Methodology: A comprehensive literature search was conducted, focusing on studies published within the last 3-4 years on the comorbidity and intersection of traits between ASD and ADHD.
 Findings: Results reveal high rates of co-occurrence, with 30-80% of individuals with ASD also meeting criteria for ADHD. There appear to be shared genetic, environmental, cognitive, and neural mechanisms contributing to both disorders, potentially explaining this overlap. Despite the frequent co-occurrence, ASD and ADHD present distinct symptom profiles and behavioural challenges.
 Unique Contribution to Theory, Practice, and Policy: Cognitive-behavioural therapy, social skills training, parental training programs, and stimulant medications are supported as evidence-based approaches for treating both ASD and ADHD. Targeting common mechanisms through combined treatment plans shows promise for improving outcomes. However, more research is needed to develop integrated, personalized treatment models tailored to the specific needs of this substantial subgroup of patients with neurodevelopmental disorders. The intersection between ASD and ADHD traits warrants deeper investigation to better characterize overlapping and disorder-specific phenotypes, guiding targeted treatments.

Associations between Autistic-like Traits and Imagery Ability.

This article examines empirical associations between qualities of the imagination, mental imagery, and cognitive abilities with special reference to autism. This study is the first to explore the empirical relationships between autistic-like traits and tests of imagery differences. Imaginative impairments and distinctive sensory characteristics in individuals with autism spectrum disorder (ASD) should be reflected in their interactions with mental imagery. However, the relationship between ASD and imaging traits remains unclear. Based on the hypothesis that the degree of autistic-like traits is reflected in imagery traits, this study examined how the individual Autism Spectrum Quotient (AQ) relates to imagery ability in 250 college students. Two vividness tests and one imagery-type test were used to assess imagery ability. Scores in each imagery test were compared between the high-scoring group classified by the AQ and the rest of the participants and between the low-scoring group classified by the AQ and the other participants. This study also directly compared imagery test scores between the high- and low-scoring groups. In terms of the total AQ score, the high-scoring group exhibited lower visualization scores. Regarding AQ subscales, "imagination" had the most extensive relationship with imagery traits, with the high-scoring group (unimaginative) showing lower imagery vividness across various modalities as well as lower visualization and verbalization scores. This was followed by the "attention to detail" subscale, on which the high-scoring group (attentive to detail) showed higher vividness of visual imagery. The results of the low-scoring group exhibited, on the whole, opposite imagery tendencies to the high-scoring group. The results indicate that autistic-like traits are associated with qualities of the imagination and especially mental imagery ability.

Broad autism phenotype traits and self-reported sensory processing across sensory modalities

BackgroundDespite a longstanding connection between sensory processing and autism, sensory processing differences did not become part of the diagnostic criteria for autism spectrum disorder (ASD) until the DSM-5. Emerging research suggests that differences in sensory processing may be related to broad autism phenotype traits in the general population. The present study adds to this literature by including a more comprehensive analysis of sensory modality and a measure of sensory gating that has not previously been related to ASD traits. MethodThrough Qualtrics, 152 participants met inclusion for the study and completed the Broad Autism Phenotype Questionnaire (BAPQ), Autism Spectrum Quotient (AQ), and several sensory questionnaires. ResultsAs predicted, ASD traits were significantly related to all sensory questionnaires, suggesting that as ASD traits increased, sensory reactivity differences increased. Similarly, participants who scored over established cut-offs on the AQ and BAPQ endorsed a significantly higher number of sensory difficulties. Interestingly, some, but not all, sensory modalities, measured by the Adult Sensory Processing Scale (ASPS), predicted scores on the AQ and BAPQ. ConclusionsThese findings provide additional support for sensory processing being included in the broad autism phenotype and suggest that sensory processing may have consequential impacts, in both ASD and individuals without a diagnosis.

From synaptic dysfunction to atypical emotional processing in autism.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition mainly characterized by social impairments and repetitive behaviors. Among these core symptoms, a notable aspect of ASD is the presence of emotional complexities, including high rates of anxiety disorders. The inherent heterogeneity of ASD poses a unique challenge in understanding its etiological origins, yet the utilization of diverse animal models replicating ASD traits has enabled researchers to dissect the intricate relationship between autism and atypical emotional processing. In this review, we delve into the general findings about the neural circuits underpinning one of the most extensively researched and evolutionarily conserved emotional states: fear and anxiety. Additionally, we explore how distinct ASD animal models exhibit various anxiety phenotypes, making them a crucial tool for dissecting ASD's multifaceted nature. Overall, to a proper display of fear response, it is crucial to properly process and integrate sensorial and visceral cues to the fear-induced stimuli. ASD individuals exhibit altered sensory processing, possibly contributing to the emergence of atypical phobias, a prevailing anxiety disorder manifested in this population. Moreover, these individuals display distinctive alterations in a pivotal fear and anxiety processing hub, the amygdala. By examining the neurobiological mechanisms underlying fear and anxiety regulation, we can gain insights into the factors contributing to the distinctive emotional profile observed in individuals with ASD. Such insights hold the potential to pave the way for more targeted interventions and therapies that address the emotional challenges faced by individuals within the autism spectrum.

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability.

SYNGAP1-related ID is a genetic condition characterised by global developmental delay and epilepsy. Individuals with SYNGAP1-related ID also commonly show differences in attention and social communication/interaction and frequently receive additional diagnoses of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). We thus set out to quantify ASD and ADHD symptoms in children with this syndrome. To assess ASD and ADHD, parents and caregivers of a child with SYNGAP1-related ID (N = 34) or a typically developing control (N = 21) completed the Social Responsiveness Scale-2, the Social Communication Questionnaire with a subset of these also completing the Conners-3. We found that those with SYNGAP1-related ID demonstrated higher levels of autistic traits on both the SRS and SCQ than typically developing controls. On the SRS, those with SYNGAP1-related ID scored highest for restricted repetitive behaviours, and were least impaired in social awareness. On the Conners-3, those with SYNGAP1-related ID also showed a high prevalence of ADHD traits, with scores demonstrating difficulties with peer relations but relatively low occurrence of symptoms for DSM-5 conduct disorder and DSM-5 oppositional defiant disorder. Hierarchical clustering analysis highlighted distinct SYNGAP1-related ID subgroups for both ASD and ADHD traits. These findings provide further characterisation of the SYNGAP1-related ID behavioural phenotype, guiding diagnosis, assessment and potential interventions.

Neurodiversity Approaches and Autism (ASD): A Scoping Review

Neurodiversity is a movement that wants to make us think differently about autism. It disagrees with the idea that autism is a disease and instead sees it as a neurological difference: a person who thinks and feels the world in a different way. This article talks about the ideas behind the neurodiversity approaches to autism spectrum disorder (ASD), as well as the conflicts that have come up around these approaches. For example, some people say that neurodiversity approaches only look at society and don't consider the role of individual traits in ASD. This study agrees with other research that both individual and social factors play a role in ASD. This article will be mostly about how to deal with neurodiversity. But even this use of "neurodiversity" is hard for ASD to define.

Differences between subclinical attention-deficit/hyperactivity and autistic traits in default mode, salience, and frontoparietal network connectivities in young adult Japanese

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are associated with attentional impairments, with both commonalities and differences in the nature of their attention deficits. This study aimed to investigate the neural correlates of ADHD and ASD traits in healthy individuals, focusing on the functional connectivity (FC) of attention-related large-scale brain networks (LSBNs). The participants were 61 healthy individuals (30 men; age, 21.9 ± 1.9 years). The Adult ADHD Self-Report Scale (ASRS) and Autism Spectrum Quotient (AQ) were administered as indicators of ADHD and ASD traits, respectively. Performance in the continuous performance test (CPT) was used as a behavioural measure of sustained attentional function. Functional magnetic resonance imaging scans were performed during the resting state (Rest) and auditory oddball task (Odd). Considering the critical role in attention processing, we focused our analyses on the default mode (DMN), frontoparietal (FPN), and salience (SN) networks. Region of interest (ROI)-to-ROI analyses (false discovery rate < 0.05) were performed to determine relationships between psychological measures with within-network FC (DMN, FPN, and SN) as well as with between-network FC (DMN-FPN, DMN-SN, and FPN-SN). ASRS scores, but not AQ scores, were correlated with less frequent commission errors and shorter reaction times in the CPT. During Odd, significant positive correlations with ASRS were demonstrated in multiple FCs within DMN, while significant positive correlations with AQ were demonstrated in multiple FCs within FPN. AQs were negatively correlated with FPN-SN FCs. During Rest, AQs were negatively and positively correlated with one FC within the SN and multiple FCs between the DMN and SN, respectively. These findings of the ROI-to-ROI analysis were only partially replicated in a split-half replication analysis, a replication analysis with open-access data sets, and a replication analysis with a structure-based atlas. The better CPT performance by individuals with subclinical ADHD traits suggests positive effects of these traits on sustained attention. Differential associations between LSBN FCs and ASD/ADHD traits corroborate the notion of differences in sustained and selective attention between clinical ADHD and ASD.

First-episode psychosis and autism spectrum disorder: a scoping review and a guide to overcome diagnostic challenges

Background Undiagnosed Autism Spectrum Disorder (ASD) may represent a diagnostic challenge in people who refer to specialized services for first-episode psychosis (FEP). Similarly, individuals with ASD can present newly-onset psychotic symptoms. Aims The present review aimed to summarize the literature available on ASD and FEP to guide differential diagnosis between the two conditions and discuss the impact of ASD-FEP comorbidity on recovery. Methods The PRISMA-ScR guidelines were followed. After conducting a comprehensive literature search, we screened 204 papers including participants with: (1) a comorbid diagnosis of FEP and ASD; (2) FEP and autistic traits; (3) separate groups of FEP and ASD. Results A total of 18 studies were discussed and confirmed the high prevalence of ASD or autistic traits in people referring to FEP services (up to 9% and 35% of FEP, respectively), which could negatively impact pathways to care, clinical presentation, and outcomes. Due to some similarities in ASD and FEP presentation (e.g., difficulties in social functioning), a differential diagnosis could be challenging. The features more suggestive of ASD rather than a primary FEP include illogical and concrete thinking, and a longstanding social interaction difficulty. Aberrant salience and suspiciousness can manifest in ASD, but are usually more transient, and stress-related than in FEP. Also, perceptual abnormalities are due to altered sensory processing rather than pathological hallucinations. The co-occurrence of ASD symptoms is associated with a reduced probability of clinical and functional recovery in FEP, a higher risk of suicidal behaviors, and higher unemployment rates. Conclusions The kaleidoscopic manifestations of FEP require an adequate differential diagnosis that should include ASD. FEP services ought to be equipped for an adequate assessment and diagnostic formulation, which can result particularly challenging should symptoms of autism be present in adult patients.

No evidence of association between autism spectrum quotient and spontaneous mental time travel in a general adult sample performing an online vigilance task

AbstractEvidence supports the dissociation of voluntary and spontaneous routes to past and future thinking, collectively referred to as mental time travel (MTT). If the diminished voluntary MTT ability found in autism spectrum disorders (ASD) is attributable to a deficit in constructive/generative processes not necessary for spontaneous MTT, ASD traits (Autism Spectrum Quotient score) in a general adult sample should not be related to total spontaneous thoughts, probability of past or future thoughts, or probability of specific thoughts during an undemanding vigilance task. Results supported this hypothesis: AQ was not associated with total spontaneous thoughts and did not significantly predict the other measures. This is the first study to explore spontaneous MTT in relation to ASD traits, further supporting the argument that voluntary MTT may be compromised in ASD due to reliance on constructive/generative processes and reinforcing the notion of dissociable cognitive routes to MTT.

12 Does Executive Functioning Predict Diagnostic Timing of Autism?

Objective:Executive functioning (EF) is impaired in autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), and EF challenges are exacerbated in youth with ASD and ADHD (ASD+ADHD), which may impact diagnostic timing. We hypothesized youth with ASD+ADHD would be more impaired in EF (as opposed to other functional domains) compared to autistic youth without ADHD (ASD-only), with particular deficits in metacognition and inhibition. We also predicted youth with ASD+ADHD would be at significant risk for delayed ASD diagnosis and that greater EF challenges would predict earlier age of ASD diagnosis across groups.Participants and Methods:Data from a clinical database was extracted for 400 youth who received a new diagnosis of ASD after age 5, either with a co-occurring diagnosis of ADHD (ASD+ADHD group: n=297; Mage of ASD diagnosis=10.49; 25.9% female; 48.1% white) or without a co-occurring ADHD diagnosis (ASD-only group: n=100; Mage of ASD diagnosis=12.02; 34.0% female; 44.7% white). EF was measured with the BRIEF-2 parent-report, and ASD symptom strength was measured with the SRS-2 School Age form. Independent samples t-tests investigated whether a) the ASD+ADHD group was uniquely impaired in EF compared to the ASD-only group, b) parents of ASD+ADHD report elevated EF problems, and c) the ASD+ADHD group was at significant risk for delayed ASD diagnosis. Pearson correlations examined the association between age of ASD diagnosis and EF for each diagnostic group. Hierarchical linear regressions further analyzed whether specific EF domains concurrently predicted age of ASD diagnosis, after controlling for the known predictors of assigned sex at birth, FSIQ, and ASD symptom strength.Results:The ASD+ADHD group had greater challenges in overall EF (t=-6.42, p&lt;.001), metacognitive skills (t=-6.47, p &lt;.001), and inhibition skills (t=-7.06, p&lt;.001). There was no significant difference in parent-reported autism symptoms between the ASD and ASD+ADHD groups (t=0.973, p=.331). The ASD+ADHD group received ASD diagnoses earlier than the ASD-only group (t=4.194, p&lt;.001). In the ASD-only group, age of ASD diagnosis was not significantly correlated to overall EF, metacognitive skills, nor inhibition skills (ps&gt;.05). In the ASD+ADHD group, ASD diagnosis was significantly related to overall EF (r(297)=.128, p=.027) and metacognitive skills (r(297)=.329, p&lt;.001) but not inhibition skills (r(297)=.078, p=.180). Hierarchical linear regressions controlling for assigned sex at birth, FSIQ, and SRS-2 T-scores were used to determine whether these EF components significantly predicted age of ASD diagnosis. Overall EF did not predict age of ASD diagnosis in the ASD+ADHD group (ß=.034, t=1.417, p=.157), but metacognitive skills did (ß=.123, t=5.582, p&lt;.001).Conclusions:Our findings suggest youth with ASD+ADHD have greater impairment in overall EF, metacognition, and inhibition compared to ASD-only youth, despite similar levels of ASD traits, consistent with hypotheses. Contrary to our hypothesis, youth with ASD+ADHD in this sample were diagnosed with ASD earlier. However, results also suggest EF problems, specifically metacognitive deficits, predict later age of ASD diagnosis. Future research is needed to replicate findings and better understand how EF and other functional domains predict ASD diagnostic timing.

Cognitive-perceptual traits associated with autism and schizotypy influence use of physics during predictive visual tracking.

Schizophrenia and autism spectrum disorder (ASD) can disrupt cognition and consequently behaviour. Traits of ASD and the subclinical manifestation of schizophrenia called schizotypy have been studied in healthy populations with overlap found in trait profiles linking ASD social deficits to negative schizotypy and ASD attention to detail to positive schizotypy. Here, we probed the relationship between subtrait profiles, cognition and behaviour, using a predictive tracking task to measure individuals' eye movements under three gravity conditions. A total of 48 healthy participants tracked an on-screen projected ball under familiar gravity, inverted upward acceleration (against gravity) and horizontal gravity control conditions while eye movements were recorded and dynamic performance quantified. Participants completed ASD and schizotypy inventories generating highly correlated scores, r = 0.73. All tracked best under the gravity condition, producing anticipatory downward responses from stimulus onset which were delayed under upward inverted gravity. Tracking performance was not associated with overall ASD or schizotypy trait levels. Combining measures using principal components analysis (PCA), we decomposed the inventories into subtraits unveiling interesting patterns. Positive schizotypy was associated with ASD dimensions of rigidity, odd behaviour and face processing, which all linked to anticipatory tracking responses under inverted gravity. In contrast, negative schizotypy was associated with ASD dimensions of social interactions and rigidity and to early stimulus-driven tracking under gravity. There was also substantial nonspecific overlap between ASD and schizotypy dissociated from tracking. Our work links positive-odd traits with anticipatory tracking when physics rules are violated and negative-social traits with exploitation of physics laws of motion.

Assessment of autonomic symptom scales in patients with neurodevelopmental diagnoses using electronic health record data

BackgroundSleep disturbances, gastrointestinal problems, and atypical heart rate are commonly observed in patients with autism spectrum disorder (ASD) and may relate to underlying function of the autonomic nervous system (ANS). The overall objective of the current study was to quantitatively characterize features of ANS function using symptom scales and available electronic health record (EHR) data in a clinically and genetically characterized pediatric cohort. MethodsWe assessed features of ANS function via chart review of patient records adapted from items drawn from a clinical research questionnaire of autonomic symptoms. This procedure coded for the presence and/or absence of targeted symptoms and was completed in 3 groups of patients, including patients with a clinical neurodevelopmental diagnosis and identified genetic etiology (NPD, n = 244), those with an ASD diagnosis with no known genetic cause (ASD, n = 159), and age and sex matched controls (MC, n = 213). Symptoms were assessed across four main categories: (1) Mood, Behavior, and Emotion; (2) Secretomotor, Sensory Integration; (3) Urinary, Gastrointestinal, and Digestion; and (4) Circulation, Thermoregulation, Circadian function, and Sleep/Wake cycles. ResultsChart review scores indicate an increased rate of autonomic symptoms across all four sections in our NPD group as compared to scores with ASD and/or MC. Additionally, we note several significant relationships between individual differences in autonomic symptoms and quantitative ASD traits. ConclusionThese results highlight EHR review as a potentially useful method for quantifying variance in symptoms adapted from a questionnaire or survey. Further, using this method indicates that autonomic features are more prevalent in children with genetic disorders conferring risk for ASD and other neurodevelopmental diagnoses.

Bidirectional genetic overlap between autism spectrum disorder and cognitive traits

Autism spectrum disorder (ASD) is a highly heritable condition with a large variation in cognitive function. Here we investigated the shared genetic architecture between cognitive traits (intelligence (INT) and educational attainment (EDU)), and risk loci jointly associated with ASD and the cognitive traits. We analyzed data from genome-wide association studies (GWAS) of INT (n = 269,867), EDU (n = 766,345) and ASD (cases n = 18,381, controls n = 27,969). We used the bivariate causal mixture model (MiXeR) to estimate the total number of shared genetic variants, local analysis of co-variant annotation (LAVA) to estimate local genetic correlations, conditional false discovery rate (cond/conjFDR) to identify specific overlapping loci. The MiXeR analyses showed that 12.7k genetic variants are associated with ASD, of which 12.0k variants are shared with EDU, and 11.1k are shared with INT with both positive and negative relationships within overlapping variants. The majority (59–68%) of estimated shared loci have concordant effect directions, with a positive, albeit modest, genetic correlation between ASD and EDU (rg = 0.21, p = 2e−13) and INT (rg = 0.22, p = 4e−12). We discovered 43 loci jointly associated with ASD and cognitive traits (conjFDR<0.05), of which 27 were novel for ASD. Functional analysis revealed significant differential expression of candidate genes in the cerebellum and frontal cortex. To conclude, we quantified the genetic architecture shared between ASD and cognitive traits, demonstrated mixed effect directions, and identified the associated genetic loci and molecular pathways. The findings suggest that common genetic risk factors for ASD can underlie both better and worse cognitive functioning across the ASD spectrum, with different underlying biology.

Prevalence of suspected autism spectrum disorder and attention-deficit hyperactivity disorder in a Japanese clinical sample with gambling disorder: A cross-sectional study.

Studies show gambling disorders are associated with attention-deficit hyperactivity disorder (ADHD). The association between gambling disorders and autism spectrum disorder (ASD) has not been well studied, although ASD is often comorbid with ADHD and is associated with gaming disorder. The aim of this study was to estimate the prevalence of ASD and ADHD traits comorbid with gambling disorders and to examine the relationships between these traits and gambling problems in a clinical population. This single-site cross-sectional study was conducted at a Japanese addiction outpatient clinic treating gambling disorders. The Autism-Spectrum Quotient (AQ) test and the Adult ADHD Self-Report Scale (ASRS) were used to screen ASD and ADHD. The Problem Gambling Severity Index (PGSI) was used to assess the severity of the gambling problems. We calculated the prevalence of suspected ASD and ADHD with 95% confidence intervals (CI) based on a binomial distribution and performed univariate analyses to examine the relationships between the AQ and ASRS scores and the total PGSI score. We included 97 of 197 potential participants. After screening the participants using the AQ and ASRS, we found that the prevalence of ASD traits was 29.8% (95% CI: 21.0%-40.2%), while the prevalence of ADHD traits was 26.0% (95% CI: 17.9%-36.2%). Univariate regression analyses revealed that the total AQ score was inversely associated with the total PGSI score. However, the total ASRS score and some ASRS subscores were positively associated with the total PGSI score. ASD and ADHD may be prevalent among patients with gambling disorders in clinical settings.

Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.

Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits.