This study investigated the relationship between early infant gut microbiome composition and subsequent neurodevelopmental outcomes. Fecal samples from children in the markers of autism risks in babies-learning early signs (MARBLES) study, a cohort with elevated likelihood of autism, were collected between 0 and 7 months of age and analyzed using 16S rRNA sequencing to evaluate whether the gut microbial composition during early infancy is associated with later neurodevelopmental diagnoses. Clinical classification as autism spectrum disorder (ASD), non-typically developing without ASD (non-TD), or typically developing (TD) was completed around 36 months of age using gold-standard assessment tools. Overall, no significant differences in alpha diversity or beta diversity, nor any differentially abundant bacterial taxa, were found between groups of infants who developed ASD or non-TD compared to those who went on to have TD. Nonetheless, our findings highlight some early differences in gut microbial composition during infancy that may relate to later neurodevelopmental outcomes. Before adjusting for multiple comparisons, infants who later developed ASD had slightly lower levels of Veillonella and Flavonifractor genera compared to children who were later found to be TD. These results suggest specific bacterial taxa may already differentiate in early infancy, but may be more subtle than other factors, such as mode of delivery and diet during early infancy. To understand longitudinal trajectories of the gut microbiome in association with later neurodevelopment, future studies should include a larger cohort to detect smaller effect sizes or investigate later time points in infancy. The human gut has many types of bacteria, some beneficial and some that may be harmful to health. Together these bacteria are referred to as the gut microbiome. Previous research shows that the bacteria in the human gut may differ in older children diagnosed with autism spectrum disorder compared to typically developing children. Children with autism are known to have problems with their gastrointestinal (GI) tract, though the relationship between GI health and autism is not well understood, particularly how the bacteria in the gut change in early life, before ASD behaviors begin to be seen. This study focuses on the gut microbiome in the first 7 months after birth and its relation to later development of autism, examined at 36 months of age. We found no major differences in the gut microbiome of infants who developed autism compared to those who did not. However, infants who later developed autism had slightly fewer of two bacteria types (Veillonella and Flavonifractor) early in life compared to infants who developed typically. However, these differences are minor compared to other factors, like whether the baby was born by C‐section or what they ate, which might matter more for the gut microbiome composition at this age than their later developmental diagnosis.
The etiopathogenesis of Autism Spectrum Disorder (ASD) encompasses complex interactions between genetic and environmental risk factors. The high prevalence of gastrointestinal disorders in autistic individuals has propelled a growing interest in the possible involvement of gut dysbiosis in ASD pathogenesis. Thousands of different bacterial strains are found in the human gut, which produce numerous metabolites that can enter the bloodstream and often pass the blood-brain barrier, potentially influencing neurodevelopment and brain function. This systematic review aims to provide a comprehensive outlook on the role of three metabolic compounds derived from gut bacteria, propionic acid (PPA), p-cresol, and 4-ethylphenyl sulfate (4-EPS), in modulating neuronal function and conferring susceptibility to ASD. To achieve this, we screened 411 records collected through a systematic search of current scientific literature in PubMed, Web of Science, and Scopus, ultimately reviewing a total of 90 records, which included data from ASD human cohorts as well as animal and cellular models of autism. Human studies provided compelling evidence of altered metabolic profiles in ASD individuals, especially for PPA and p-cresol, but also to a smaller extent, for 4-EPS. Furthermore, data obtained from the exposure of experimental models to each one of these three metabolic compounds identified several behavioral anomalies induced in treated animals and highlighted common neurobiological mechanisms. Overall, current literature supports the contribution of gut metabolites to ASD susceptibility and/or a significant modulatory role on the clinical expression of ASD, strongly encouraging further research in the field in order to improve autism diagnostics and management. Data supporting a potential involvement of gut bacteria and their metabolites in autism has recently emerged. Specifically, three metabolic compounds (propionic acid, p‐cresol, and 4‐ethylphenyl sulfate) produced by gut bacteria are among the best candidates as contributors to autism. This review is, to our knowledge, the first to gather results regarding these three compounds and their role in autism susceptibility, identifying differences and commonalities in their mechanisms of action on neuronal cells and on the developing brain. It also discusses their potential use as biomarkers or as drug targets for future treatments.
Assessments for autism spectrum disorder are time-consuming and expensive, and demand has increased over recent decades. Despite improved diagnostic criteria and awareness of autism, there still appear to be disparities in diagnostic rates of autism across age, gender, and ethnicity. Research investigating biases in referrals to, and assessments conducted by, autism diagnostic services is limited, especially in adults, making it difficult to understand these disparities. This clinical service evaluation collected data on demographic characteristics of clients referred and accepted for autism assessments (N = 350) and fully assessed for autism (N = 269) by a London-based adult autism team. Demographic characteristics of clients referred to the service were compared to population prevalences using Census data to investigate potential biases in referring clinicians. Demographic characteristics of clients who received diagnoses of autism were compared to the service's average diagnostic rate to investigate potential biases in assessing clinicians. Participants referred and accepted for autism assessments were significantly more likely to be male, aged 18-34, and from White or "Other" ethnic backgrounds compared to local population prevalences. Of clients assessed, there were no significant differences in diagnostic rates of autism among demographic groups compared to the service's average diagnostic rate. Clinicians conducting autism assessments appeared to show no diagnostic bias. However, findings suggest there are still disparities in gender, ethnicity, and age of adults who were referred and accepted for autism assessments. Further research is needed to investigate causes of this access disparity to ensure people can access appropriate services and support. This clinical service evaluation explored disparities in age, ethnicity, and gender of adults referred and assessed for autism by a London‐based autism diagnostic service. Participants referred and accepted for autism assessments were significantly more likely to be male, aged 18–34, and from White or “Other” ethnic backgrounds compared to local population prevalences, suggesting potential biases in referring clinicians. Clinicians conducting autism assessments appeared to show no diagnostic bias, as there were no significant differences in diagnostic rates of autism among demographic groups compared to the service's average diagnostic rate.
Autism screening in childhood is common, yet little is known about its potential psychological impact on caregivers. The U.S. Preventive Services Task Force, an independent national panel of disease prevention experts, stated that this gap in knowledge limited their ability to endorse universal autism screening. This study examined the psychological impact of autism screening, using data from a large community-based sample (n = 1272) involving online caregiver-completed autism screeners at child age 6, 9, 12, 18, and 24 months. Caregivers completed the Participation Impact Questionnaire retrospectively (mean child age at completion 37.2 ± 4.8 months) to measure feelings about screening. A minority (34.7%) of the sample reported presence of ≥ 1 negative feeling; the most commonly endorsed was "worried". Among this subset, negative feelings were of short duration (lasted for < 1 day in 56.9%), were mild in severity (86.4%), and did not affect functioning (85.3%). A majority (86.2%) also reported ≥ 1 positive feeling. Our findings address a critical evidence gap regarding potential harms of autism screening and support universal screening, given that psychological harms are not common and have low functional impact, as well as possible psychological benefits. Although screening for presence of autism among young children is commonly done, little is known about its potential psychological impact on caregivers. There is very limited information related to this topic currently, with the U.S. Preventive Services Task Force, an independent national panel of experts, stating that this gap in knowledge limited their ability to make recommendations related to guidelines on routine autism screening for all children. This study addresses this knowledge gap and aimed to study the potential psychological impact (harms, as well as benefits) of autism screening in caregivers. Data was obtained from a longitudinal study involving online caregiver‐completed autism screeners at child age 6, 9, 12, 18, and 24 months. Caregivers were notified at child age 18–24 months if their children had screened positive at any time‐point and offered diagnostic evaluation to determine a final outcome by 36 months. Subsequently caregivers were invited to complete the Participation Impact Questionnaire (PIQ) which was designed to measure negative and positive feelings about screening, their duration, and functional impact. In our study, a total of 1272 caregivers completed the PIQ. Only a minority (34.7%) reported presence of ≥ 1 negative feeling; the most commonly endorsed feeling was “worried”. Among those who reported these feeling(s), they were of short duration, were mild in severity and did not affect day‐to‐day activities in the majority. A majority (86.2%) also reported ≥ 1 positive feelings; the most common ones were “interested” and “curious.” Study findings suggest that psychological harms reported by caregivers following autism screening are less common than positive feelings and even if present, have short duration, low functional impact, and low severity. Our findings are in support of recommendations toward universal autism screening recommendations, given low harm potential and possible psychological benefits of screening on caregivers.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with atypical social communication as a core symptom. Variations in social information processing in individuals with ASD are associated with the social brain, which encompasses four specific subnetworks, that is, reward system, theory of mind network, mirror neuron system, and face perception network. However, the relationship between neural mechanisms of altered social functioning and modular integration of these subnetworks within the social brain remains unclear in ASD. With resting-state functional MRI (rs-fMRI) data from two large-scale datasets (ABIDE I and II), we computed the participation coefficient to explore the abnormal modular integration of the four subnetworks in 298 ASDs and 348 typically developing (TD) controls. Then, its associations with clinical symptoms, neurotransmitter systems, and transcriptional signatures were investigated. Additionally, the age effect on aberrant modular integration was estimated with linear regression models. Finally, we assessed the reproducibility of our results from a meta-perspective using other datasets. ASD participants exhibited increased integration of the reward system relative to TDs, which was correlated with Social Responsiveness Scale total score, the neurotransmitters such as 5HT1a and GABAa, and the disruption of the transcriptional signatures including cell proliferation and migration as well as tube and tissue morphogenesis. Additionally, the modular integration abnormality of the reward system was stable across development and replicated across datasets. We revealed a symptom-related, neurotransmitter- and transcriptional signature-associated, age-stable, and reproducible modular integration abnormality of the reward system in ASD. This hyper-integration was linked to reduced GABAa and serotonin receptor densities, providing neuroimaging and molecular evidence supporting the excitatory-inhibitory imbalance theory of ASD and insights into the mechanisms underlying social variations in ASD. We firstly found that the increased modular integration of the reward system within the social brain in ASD based on a large‐scale multisite dataset, which is age‐stable and replicated in other datasets. We illustrated that the aberrant modular integration of the reward system was correlated with the Social Responsiveness Scale total score, 5HT1a, GABAa, and disruption of the transcriptional signatures including tube morphogenesis, cell population proliferation, tissue morphogenesis, and positive regulation of cell migration. Our study will shed new insights into the neurobiological mechanisms underlying the social functioning deficit in ASD and facilitates the advancements in the intervention strategies.
Several studies have examined trajectories of autism symptoms in autistic children and their siblings. However, less is known about developmental patterns across different neurodevelopmental conditions, as well as the clinical characteristics and early predictors among children with distinct diagnoses but overlapping trajectories. This study investigated trajectories of autism symptoms [ADOS-2 Calibrated Severity Score; Total CSS, social affect (SA) CSS, and restricted and repetitive behaviors (RRB) CSS] and their overlap across symptom domains in a Chinese cohort of 163 children aged 18-36 months, including autism, broader autism phenotype (BAP), developmental delay (DD), and typical development (TD). Latent class growth modeling identified three trajectories for Total CSS and SA CSS, and two for RRB CSS. Cross-domain analyses revealed overlapping CSS trajectories between 51 autistic children (Overlap-Autism) and 36 children with BAP (Overlap-BAP). Clinical comparisons between these two groups revealed distinct temporal profiles in CSS and ADI-R scores. Hierarchical logistic regression analyses indicated that female sex was a protective factor for Overlap-Autism (OR = 0.20, p = 0.009) relative to the Overlap-BAP group, whereas higher SA CSS at 18 months independently predicted Overlap-Autism (OR = 1.61, p = 0.003). These findings highlight the challenges of early diagnostic differentiation among children with autism-related traits and underscore the importance of comprehensive and longitudinal assessment. Early childhood is a crucial period for understanding how autism‐related behaviors develop, yet limited research has examined how these behaviors change over time in very young children with different developmental outcomes. In this study, we followed 163 Chinese children aged 18 to 36 months, including children later identified as autistic, showing broader autism‐related traits, having developmental delays, or developing typically. We found that children showed distinct patterns of change over time in overall autism‐related behaviors, social communication, and repetitive behaviors. Importantly, many children who were later classified as autistic or as having broader autism‐related traits followed very similar developmental patterns during early childhood. This overlap helps explain why it can be challenging to clearly distinguish between these outcomes at a very young age. In addition, we found that girls were less likely than boys to follow an autism‐related developmental pathway. Children who showed greater difficulties in social interaction at 18 months were more likely to develop autism‐related patterns over time. Overall, these findings highlight the complexity of early neurodevelopment and emphasize the importance of using comprehensive assessments and conducting repeated follow‐up evaluations in early life, rather than relying on a single assessment at one point in time.
Autism remains understudied and under-detected in Indigenous communities across the globe. This content analysis investigates key themes and future directions for Indigenous autism research, as discussed during a Special Interest Group at the 2025 International Society for Autism Research meeting in Seattle, United States. Discussions and perspectives were explored with shared knowledge from international participants who were service providers, Autistic self-advocates, academics, and other autism-related stakeholders. The emergent themes emphasized the need for autism research in Indigenous communities to utilize approaches that are decolonized, culturally informed, and strengths-based. The results highlighted the need for researchers to focus on building trust, fostering relationship-building, and encouraging collaborative research partnerships with communities, while addressing systemic limiting factors and integrating knowledge systems from Indigenous and Western models. There is also a desire for more Indigenous-led initiatives that allow non-Indigenous researchers to provide support. Overall, there is a clear interest in further Indigenous autism research initiatives, but further shifts are needed to ensure that efforts are community-led and strengths-based. We looked at ways to improve Indigenous autism research and care. Research should be community driven, culturally adapted, Indigenous led, and supported by non‐Indigenous collaborators. Building trust, long‐term community partnerships, and addressing barriers in healthcare systems could improve health outcomes.
Objective behavioral assessments for autism spectrum disorder (ASD) are often time-intensive and require substantial clinical expertise. Eye-tracking-based paradigms offer quantifiable measures of social attention that can complement traditional tools. The current study builds on our previously validated Arabic-language Autism Index (AI) by developing and validating a 4 min short version designed to improve feasibility in clinical and community settings while maintaining diagnostic accuracy. A total of 236 participants (127 with ASD, 109 non-autistic controls including those with developmental delays (DD)) aged 1-16 years were assessed using an eye-tracking paradigm consisting of 19 short dynamic videos depicting social and non-social scenes. The AI was computed as the ratio of dwell time toward social versus non-social stimuli. Diagnostic classification was established using ADOS-2 and SCQ. Reliability and validity were assessed using Cronbach's α, Pearson's r, and ROC analyses, including age-stratified performance and comparison with the original 10 min version. Feasibility was assessed by the proportion of valid stimuli. The short-version AI demonstrated excellent internal consistency (α = 0.91) and test-retest reliability (r = 0.83). Diagnostic accuracy was high (AUC = 0.878, SE = 0.023), with age-stratified AUCs ranging from 0.846 to 0.939. AI scores correlated strongly with ADOS-2 severity (r = 0.54, p < 0.001) and SCQ total scores (r = 0.43, p < 0.001). Compared with the 10 min original version (AUC = 0.73), the short paradigm achieved higher accuracy and feasibility (valid stimuli: 89% vs. 80%). The current eye-tracking paradigm demonstrates promising diagnostic performance while substantially reducing assessment time and cognitive demand. The findings provide initial evidence supporting its potential as a scalable and cross-cultural tool for ASD screening and diagnosis, with further validation in independent and clinical cohorts supporting its translation into routine clinical practice. Children with autism often show noticeably different patterns of looking at people and objects compared to other children. Eye‐tracking technology can measure these differences and help clinicians identify autism in a more objective way. In this study, we tested a 4 min version of an eye‐tracking test that was designed to be easier for children to complete. Our findings show that this much faster test remains reliable and useful for autism screening and diagnosis, especially in clinics and schools where time and attention are limited.
There is a critical need to understand the early vocabulary of young children with autism who have limited language, defined in this study as producing fewer than 20 different spontaneous and functional spoken or augmented words, to better inform educational targets and vocabulary selection for spoken as well as augmentative and alternative communication (AAC) interventions, particularly given the lack of evaluation tools designed for children with limited language. The spontaneous words and gestures produced by 66 preschoolers with autism (ages 3.5-5) during a natural language sample are compared with words in two early vocabulary tools including the MacArthur Communicative Development Inventories (MCDI) and a list of core words compiled from research studies of early AAC vocabulary. Participants' expressive words and gestures were coded from the transcripts of 20-min natural language samples. Forty-nine children (74.24%) used spoken words, gestures, or a combination of both, with six children (9.09%) communicating using a speech-generating device (SGD). Spoken words were primarily used for commenting, while gestures, especially pointing, were used for requesting. Although more than half of the unique words expressed by the children during the natural language sample overlapped with those in the MCDI, only 32% of unique words expressed by the children overlapped with Laubscher's and Light's core word lists, suggesting that young children with autism who have limited language may use more fringe words related to their personal interests or experiences. The study's limitations as well as implications for vocabulary selection for AAC systems and intervention goals are discussed. This study explores the words and gestures that preschoolers with autism who have limited language spontaneously used during a play‐based interaction with an unfamiliar assessor and compared the words to known lists of first English words that develop in young children. Over 74% of children used some spoken words or gestures to comment or request while few (9.09%) used a high‐tech device (tablet with software) to communicate. Although there was substantial overlap between the words used by the preschoolers and the word lists, the preschoolers used a variety of words tied to their personal interests and social contexts that were not captured by these lists. These insights provide considerations for educators, researchers, tool designers, and caregivers to select language targets for intervention and to set up high and low‐tech augmentative and alternative communication systems for young children with autism.
Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3-hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress-response program-the cell danger response (CDR)-during critical windows of neurodevelopment. In this framework, ASD emerges from the sequential interaction of: (1) inherited genetic or epigenetic variants that sensitize mitochondrial metabolism, intracellular calcium handling, and purinergic signaling to environmental change; (2) early prenatal or postnatal activation of the CDR by infection, immune dysregulation, metabolic disturbance, or environmental toxicant exposure; and (3) prolonged or recurrent exposure to CDR-activating triggers for 3-6 months from the late 1st trimester to 18-36 months of age. The CDR is initiated by extracellular ATP (eATP)-associated purinergic signaling and mitochondrial changes that are resource- and energy-intensive. Persistent or recurrent activation of the CDR during the critical neurodevelopmental window is proposed to sensitize developing cells to eATP-related signaling, leading to false alarms and a mixture of chemical, immune, and neurosensory under- and over-responsivity. More frequent cycles of CDR activation and recovery are proposed to cause cellular competition for key bioenergetic, mitochondrial, and metabolic resources needed to support the normal trajectory of child development. Phenylketonuria (PKU) provides a proof-of-principle example. Untreated PKU historically caused intellectual disability and autistic features, while universal newborn screening and early treatment interrupt this sequence and prevent or decrease these outcomes despite strong genetic predisposition. A 3‐hit developmental model for autism spectrum disorder is described. New methods in systems biology have identified a pattern of changes in mitochondrial function and metabolism that underlie the core symptoms of ASD. The metabolic features of the cell danger response (CDR), maintained by abnormalities in ATP‐related purinergic signaling, have emerged as a common denominator for each of the genetic and environmental causes of ASD studied to date.
Visuospatial reasoning in autism is often linked to superior performance on tasks such as the Block Design Task (BDT). While different strategies have been described in the general population, no study has examined how these strategies relate to performance in autistic individuals, even though the task is widely used to characterize their visuospatial profile. To address this gap, the present study examined not only overall scores but also the underlying strategies used by autistic (ASD) and neurotypical (TD) adults during the BDT. Forty-one participants (ASD = 18; TD = 23) completed the standard BDT while eye-tracking and behavioral data captured both visual exploration and construction strategies. Globally, structured strategies-both in visual exploration and construction-were found to be the most effective, as they were associated with higher success rates and faster completion times, consistent with previous findings. At the group level, our results revealed that autistic participants employed these analytic strategies more frequently than neurotypical individuals, along with a stronger alignment between visual and construction approaches. The consistent use of these strategies in the autistic group may help explain the enhanced visuospatial performance observed in our study after controlling for manual dexterity and reported in earlier studies. These findings emphasize the importance of looking beyond traditional performance measures such as accuracy and completion time, highlighting that cognitive strategies are key to understanding visuospatial reasoning. This study explored how autistic and non‐autistic adults approach a clinical problem‐solving task, focusing not only on their performance but also on the visual and motor strategies they use. We found that the most efficient strategy was used more frequently by autistic participants. These findings suggest that differences in thinking styles may help explain the strengths in visuospatial reasoning often observed in autistic individuals.
The current study investigated 1144 toddlers and preschoolers (ASD + GDD n = 592; ASD only n = 249; GDD only n = 89; no ASD or GDD n = 214) with the toddler module (38.6%), Module 1 (57.5%), and Module 2 (3.9%) as well as Mullen Scales of Early Learning. The calibrated severity score (CSS) was used to compare severity across modules. The study sample was stratified by GDD (Visual Reception Developmental Quotient < 75), and each stratum was investigated with descriptive statistics, ROC curves, and test statistics to identify the optimal cut-off CSS to differentiate ASD and non-ASD. ROC analysis indicated that the CSS scores showed excellent discrimination for ASD status for both the GDD (AUC = 0.86) and no GDD (AUC = 0.95) strata. In the no-GDD stratum, an ADOS-2 CSS of 5 was determined to be the optimal cut-off. In the GDD stratum, an ADOS-2 CSS of 6 was determined to be the optimal cutoff. While non-spectrum/little-to-no concern and autism/moderate-to-severe concern showed very high predictive accuracy for diagnostic outcomes, the autism spectrum/mild-to-moderate concern lacked clear diagnostic directionality, regardless of GDD status. This is the first study with a large sample of toddlers and preschoolers exploring optimal ADOS-2 CSS cut-off when stratified by GDD. The current study with 1144 toddlers and preschoolers indicated that ADOS‐2 excellently differentiated ASD versus no ASD. The optimal calibrated severity scores were different for children without cognitive delay versus children with cognitive delay, 5 and 6, respectively. Non‐spectrum/little‐to‐no concern and Autism/moderate‐to‐severe concern showed very high predictive accuracy for diagnosis, but the autism spectrum/mild‐to‐moderate concern lacked clear diagnostic directionality, regardless of cognitive delay.
Autism spectrum disorder (ASD) prevalence estimates vary widely across countries and over time, partly due to differences in the screening and diagnostic tools used. This study combined bibliometric analysis and systematic review methods to examine global publication trends and evaluate the use of standardized assessment tools in ASD prevalence studies involving school-aged children (typically 6-12 years). A bibliometric search of the Scopus database (2015-2025) identified 107 publications, which were analyzed for citation patterns, research themes, and geographic distribution. Of these, 18 studies met systematic review inclusion criteria, reporting ASD prevalence in the general population and high-risk samples across diverse regions. The most frequently used screening tools were the Social Communication Questionnaire (SCQ) and Childhood Autism Spectrum Test (CAST), while gold-standard diagnostic tools such as the Autism Diagnostic Observation Schedule (ADOS/ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) were common for diagnostic confirmation. However, psychometric performance and cultural adaptation processes varied, and many tools were not validated for the study population. Tool selection and adaptation were found to directly influence prevalence estimates, with implications for research comparability and policy planning. Findings highlight the need for culturally validated instruments, standardized sampling approaches, and increased representation of low- and middle-income countries in ASD prevalence research to ensure equitable and accurate identification. This study reviewed research from around the world to see which tests and questionnaires are used to identify autism in school‐aged children. We found that the choice of tools and how they are adapted for different cultures can greatly affect how many children are identified with autism. These results can help researchers and policymakers choose better tools to ensure accurate and fair identification for all children.
Autism spectrum disorder (ASD) is characterized by impaired social interactions and communication, and increased repetitive and stereotypical behavior. Neuroimaging shows functional abnormalities in brain areas involved in temporal processing in autistic individuals, and they also show deficits in interval timing. Neurexin (NRXN) mutations have been identified in a wide variety of neuropsychiatric disorders, including ASD, and Nrxn1+/- mice possess a mutation that disrupts the α, β, and γ isoforms of Nrxn1, a gene involved in synapse structure. We investigated the interval timing abilities of the Nrxn1+/- mouse model of ASD in the peak interval procedure using a 15-s target interval and compared their performance with that of Nrxn1+/+ and Nrxn1ΔS5/- rescue mice. Two-month-old male Nrxn1+/+ (C57BL/6 J), Nrxn1+/-, and Nrxn1ΔS5/- mice were trained to obtain sucrose liquid rewards 15 s after the onset of a discriminative stimulus (discrete fixed-interval training), and their timing responses were tested in non-reinforced probe trials. Our analysis of responses across individual trials revealed that Nrxn1+/- mice had earlier timing responses overall. This difference was manifested as earlier termination of responding in terms of the response curves. These findings are consistent with leftward shifts observed with experimental animal models of ASD. In conclusion, we believe these results indicate a bias in long-term memory in the Nrxn1+/- mouse model of ASD and may capture the timing deficit observed in autistic individuals. Neurexins help nerve cells connect and communicate with each other, and changes in these genes are often seen in people with autism. Mice with a mutation in the neurexin1 gene, called Nrxn1+/− mice, exhibit autism‐like behaviors. In a time‐judging test, these mice respond early, similar to some people with autism. This study helps develop our understanding of how interval timing is affected in ASD.
While the immediate benefits of labor epidural analgesia (LEA) are well established, recent studies have raised concerns about possible associations with autism spectrum disorder (ASD). Therefore, we examined the association between LEA and ASD in offspring. We analyzed data from mother-child dyads enrolled in the Study to Explore Early Development (2007-2020), a US multisite case-control study. Receipt of LEA during childbirth and other covariate information was ascertained from a combination of maternal self-report, medical record abstraction, and the birth certificate. ASD classification was determined by trained psychologists using the Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised. We used logistic regression to estimate the odds ratio (OR) for the association between LEA and ASD in offspring. Models were adjusted for demographic and pregnancy factors. Sensitivity analyses restricted to term deliveries, singleton pregnancies, and vaginal births were conducted. Our sample included 2039 ASD cases and 3171 controls. The prevalence of LEA use was similar among cases and controls (66% and 67%, respectively). The crude OR for the association between LEA and ASD was 0.97 (95% CI: 0.85, 1.10), and the adjusted OR was 1.02 (95% CI: 0.89, 1.17). Findings from sensitivity analyses were generally consistent with the primary results. Subtle associations emerged when the analysis was restricted to vaginal deliveries; however, they attenuated after additional adjustment for fetal distress, induced or augmented labor, and prolonged labor. Our findings do not support an association between LEA and ASD in offspring. We investigated whether the receipt of labor epidural analgesia during childbirth was associated with autism spectrum disorder (ASD) in preschool aged children. Our findings did not reveal strong evidence supporting such an association.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent differences in social communication and interaction, as well as restricted and repetitive patterns of behavior, interests, or activities. Language difficulties are common in autism and can affect multiple domains, including phonology, morphology, syntax, semantics, and pragmatics. This study examined the language and repetition skills of Turkish-speaking autistic children (diagnosed with ASD), children with developmental language disorder (DLD), and typically developing (TD) peers. Ninety children aged 5-9 years participated: 30 autistic children, 30 children with DLD, and 30 TD children. Language abilities were assessed using the Turkish School Age Language Development Test (TODİL), the LITMUS Turkish Sentence Repetition Test (LITMUS-TR), and the Turkish Nonword Repetition Test (TAST). The TD group scored significantly higher than both clinical groups across all measures. In direct comparisons between the clinical groups, autistic children had lower scores than children with DLD on several morphosyntactic and lexical-semantic measures. After Bonferroni correction, only morpheme completion (TODİL BT) differed significantly between the groups; associated vocabulary (TODİL IS) and word description (TODİL SB) showed smaller differences that did not reach the Bonferroni-adjusted significance threshold. The two clinical groups showed similar performance on picture vocabulary (TODİL RS), sentence comprehension (TODİL CA), sentence repetition (TODİL CT; LITMUS-TR), and nonword repetition (TAST). The findings indicate specific areas of relative difficulty in morphosyntactic and lexical-semantic processing among autistic children in this sample, alongside broadly similar performance to children with DLD on other sentence-level and repetition measures. These results suggest the potential value of tailored, evidence-based interventions that consider autistic children's individual language profiles, while also taking into account broader cognitive and executive functioning needs. This research examines the language and repetition abilities of Turkish‐speaking children diagnosed with autism and DLD. The results underscore important differences in language processing and use across these groups. This research aims to clarify these distinctions in order to inform more effective language intervention programs for autistic children and children with DLD, with the goal of supporting improved communicative outcomes and quality of life.
Young autistic people experience disproportionately high rates of mental health challenges, yet little is known about factors associated with suicidality in this group. This study leveraged anonymous self-report data to identify correlates of suicidal thoughts among 365 young users (aged approximately 11-25 years) of a mental health app in the United Kingdom with an autism diagnosis or self-identifying as autistic. The presence of suicidal thoughts was assessed as a binary item. Binary logistic regression was used to explore correlates of suicidal thoughts across three domains: mental health-related symptoms, autism-related factors, and adverse life events/experiences. The final model included all significant correlates from domain-specific models alongside demographic factors. Suicidal thoughts were reported by 63% of participants, with similar rates across age groups. The final model accounted for nearly 50% of variability in the presence of suicidal thoughts (R2 Nagelkerke = 0.48, p < 0.001). Self-harm and depression showed the strongest positive associations (odds ratio, OR and [95% confidence interval] = 6.41 [3.62, 11.35] and 4.58 [2.51, 8.35], respectively), followed by a history of physical abuse (OR = 3.01 [1.20, 7.56]) and a transgender/gender-diverse identity (OR = 2.13 [1.11, 4.10]). Personal use of the term "neurodiversity" was associated with a lower likelihood of suicidal thoughts (OR = 0.45 [0.24, 0.83]). These findings contribute to evidence of high rates of suicidal thoughts among young autistic people and associations with self-harm, depression, a history of abuse, and a gender minority identity. Self-identification with the term neurodiversity emerged as a potential protective factor, although this novel finding warrants further research. Overall, this study highlights the importance of access to autism-adapted mental health care, addressing trauma and identity-related stressors, and fostering belonging and connection as part of comprehensive suicide prevention strategies for autistic youth. This study analyzed data from 365 young autistic people in the United Kingdom who were users of a mental health app to examine how common suicidal thoughts were and what factors were associated with them. Suicidal thoughts were reported by 63% of participants and were most strongly linked to depression, self‐harm, history of physical abuse, and having a gender minority identity. As this was not a population‐based study, our sample is likely to experience higher levels of mental health difficulties than young autistic people in general. These findings stress the need for accessible autism‐adapted mental health care, addressing trauma and identity‐related stressors, and fostering belonging and connection as part of comprehensive suicide prevention strategies for autistic youth.
Children diagnosed with autism often present with an atypical discrepancy between their receptive and expressive language levels, or an atypical receptive-expressive language phenotype. Children with an atypical receptive-expressive phenotype present with a relative receptive language advantage (expressive level < receptive level) or a relative expressive language advantage (expressive level > receptive level), whereas those with a typical phenotype have balanced receptive and expressive language levels. It remains unclear whether atypical receptive-expressive language phenotypes are evident before 24 months in children with autism features or whether they are associated with concurrent child developmental functioning or later language growth. Participants (N = 80) were drawn from a randomized comparative efficacy intervention study for 12-23-month-olds with autism features and elevated scores on an autism diagnostic instrument. Baseline receptive and expressive language age equivalent (AE) scores were used to describe continuous variation in receptive-expressive language phenotypes by quantifying the gap between each child's receptive and expressive language levels. These continuous metrics were then used to classify children into discrete language profile groups: expressive advantage (EA), receptive advantage (RA), and balanced. On average, children had a gap of three AE "months" between their receptive and expressive language levels. Over 75% of children presented with an atypical receptive-expressive phenotype (40% EA profile, 36% RA profile), whereas only 24% of children had a typical receptive-expressive phenotype (balanced profile). Language profiles were not concurrently associated with age, autism features, joint attention skills, motor or cognitive functioning. However, children with the EA profile at baseline showed significantly slower expressive language growth over 12 months than those with RA or balanced language profiles, suggesting that receptive-expressive language profiles may hold promise as early prognostic markers of expressive language growth in emerging autism. This study examined the discrepancy between receptive and expressive language abilities among children with autism symptoms. Over 75% of children had an atypical discrepancy between their receptive and expressive language levels (an atypical receptive–expressive language profile). Although receptive–expressive language profiles were not associated with developmental factors like age or cognitive ability, we found preliminary evidence that children with a higher expressive than receptive language level (an expressive advantage profile) show slower expressive language growth.
Play holds a prominent role in Autism Research and practice, serving not only as a medium for assessment, providing insights into developmental progress and diagnostic indicators, but also as a foundational element in targeted interventions designed to support specific skills, education, and therapeutic outcomes. Additionally, free, unstructured play offers autistic children vital opportunities for self-expression, exploration, and emotional regulation. Recent advancements in computer vision techniques have significantly expanded the possibilities in Autism Research by capturing nuanced motor behaviors and facilitating interactive environments tailored to enhance social engagement and responsiveness. This paper investigates the application of computer vision techniques within diverse play contexts involving autistic children. A systematic literature review was conducted across six major databases, identifying 39 studies published between January 2014 and January 2026 that met the inclusion criteria. The collected data included the type of computer vision techniques used, participant demographics, and purpose of play and its environment. Most of the included studies used structured play scenarios, employing methods such as facial expression recognition, eye tracking, and pose estimation to objectively assess social communication, emotion recognition, and motor coordination in autistic children. Some studies positioned their approach as targeted interventions, while others utilized play-based tasks for early screening and diagnostic insights. The findings highlight the usefulness of computer vision in enhancing child-centered play and autism-related assessments. However, small sample sizes, methodological inconsistencies, and limited real-world applicability remain significant constraints. Future research should focus on inclusive designs, larger and more diverse participant samples, and longitudinal studies to validate the long-term effectiveness of these systems. By addressing these limitations, computer vision-enhanced play could become a crucial component of both personalized interventions and diagnostic frameworks for autistic individuals.
Autism spectrum disorder (ASD) can be identified in early childhood, often manifesting through motor delays, stereotyped behaviors, and atypical developmental profiles, with motor impairments frequently being among the earliest observable indicators. This study aimed to assess the motor development in preschool and school-age children, comparing those with ASD to neurotypical peers. The research focuses on evaluating the overall impact of ASD on motor development and examining specific motor domains. The study included 292 children (73% boys and 27% girls), aged 3 to 10 years. The sample was divided into two groups: the ASD and the neurotypical (NT) groups, with a ratio of 3:1, with three neurotypical children selected for every child with ASD. Motor development was assessed using the Motor Development Scale III (MDS III), which evaluates six specific domains: fine motor skills (FM), gross motor skills (GM), balance (BL), body schema (BS), spatial organization (SO), and temporal organization (TO). Children with ASD, both in the preschool and school-age groups, exhibited a significantly higher incidence of motor impairments across all evaluated motor domains compared to their neurotypical peers. Motor impairments in children with ASD are not only prominent during the preschool years but also tend to intensify as children transition into school age. These findings highlight the need for early identification and targeted interventions to address motor challenges in children with ASD. This study investigates the impact of autism spectrum disorder (ASD) on the motor skills of Brazilian children aged 3 to 10. The findings show that children with ASD experience significant delays in motor development compared to their neurotypical peers, particularly in areas like coordination, balance, and spatial awareness. These motor challenges worsen as children grow older, highlighting the need for early intervention to support their overall development.