Pubmed (TSA) du 09/04/26
1. Agostinho D, Sousa D, Castelo-Branco M, Simões M. Restricted Neural Parametric modulation of emotional arousal in autism reveals a core role for the cerebellum. Soc Cogn Affect Neurosci;2026 (Apr 9)
Understanding how emotional arousal and valence are processed in Autism Spectrum Disorder (ASD) is key to uncovering underlying affective mechanisms. Prior research has yielded mixed results, particularly regarding arousal. Using functional magnetic resonance imaging (fMRI), we examined neural responses to emotional video clips in adults with ASD (n = 20) and typically developing controls (n = 20). Stimuli were designed to elicit controlled emotional responses with standardized visual and narrative features, and parametric modulation analyses assessed neural activation as a function of self-reported arousal and valence. Behavioral ratings confirmed stimulus validity. For arousal, typically developing individuals showed widespread modulation across frontal, parietal, temporal, and subcortical regions, including the cingulate gyrus, insula, caudate, and ventral tegmental area. In contrast, ASD participants exhibited restricted modulation, primarily within the anterior cerebellum. No group differences emerged for valence, with both groups recruiting frontal and limbic regions such as the amygdala and insula. These findings highlight a dissociation between arousal and valence processing in ASD. Reduced cortical engagement and increased anterior cerebellar (including the vermis) involvement during arousal suggest compensatory mechanisms, underscoring the importance of distinguishing emotional dimensions when characterizing neural processes in autism.
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2. Bottema-Beutel K, Hinson-Williams J, Shen Y, Guo R, Brayton S, Alicea J, LaPoint S. A 5-Year Update of Conflicts of Interest in Autism Intervention Research in Applied Behavior Analysis Journals. Autism;2026 (Apr 9):13623613261433165.
Researchers’ false, incomplete, or missing disclosures of conflicts of interest (COIs) can introduce bias into research, can erode public trust in research findings, and represent ethical violations of most academic journal policies. A 2020 study discovered that publications in applied behavior analysis (ABA) journals are particularly problematic in adherence to COI disclosure ethics. The current study is a 5-year update of this previously conducted study. We examined autism intervention research articles published over a 1-year period in eight ABA journals. Two coders extracted author names and COI disclosure statements from each study and conducted web searches to determine if authors were affiliated with organizations providing ABA services or consulting. One hundred and nineteen studies met our inclusion criteria, from which we compiled a database of 450 authors. Seventy-eight percent of authors held clinical and/or consultancy COIs. At the study level, 93% of studies were written by at least one author with a clinical and/or consultancy COI. Only 8% of studies disclosed any author COIs, and only 2% disclosed clinical and/or consultancy COIs. Ninety-three percent of statements claiming no COIs were false. COIs are increasingly pervasive in ABA autism intervention research, and the vast majority remain undisclosed.Lay AbstractThis study looked at how often researchers who publish about autism interventions in journals focused on one type of intervention called Applied Behavior Analysis (ABA) tell readers about their conflicts of interest (COIs). COIs happen when researchers benefit from showing something specific in their research, such as an intervention making things better for autistic people. The COIs we looked at are when researchers also receive money to provide ABA to autistic people or help other researchers provide ABA to autistic people (i.e., they worked as a consultant). COIs can negatively affect how research is designed, interpreted, and presented. We wanted to see if researchers tell readers about their COIs, or if they say they do not have COIs when they do. We reviewed autism-related intervention papers published over 1 year in eight ABA journals. For every paper, we copied the COI statement. Then, we searched online to see if authors were working as or consulting with ABA service providers. We looked at 119 papers with a total of 450 authors. This study is a five-year update of a 2020 study that found widespread but rarely reported financial COIs among ABA researchers. In our updated study, we found that 78% of authors had a COI. Some worked in ABA clinics, some offered paid consulting to other ABA providers, and some did both. Almost all papers (93%) had at least one author with these kinds of connections. But very few (8%) mentioned any COIs, and only 2% of papers stated that the authors worked as ABA providers or consultants. Most papers said the authors had no conflicts at all, but this was often not true. In fact, 93% of « no COI » statements were false. Although more ABA journals now require disclosure than in the past, many statements are still inaccurate, showing that the problem has not improved. The people in charge of publishing research, and the people who write research papers, need to do much better to let readers know about researchers’ COIs.
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3. Brown FJ, Muscat IS, Quinn L, Best L, Cooper P. Validation of the safety, empathy and utility of a large language model conversation agent for parents of autistic and neurodivergent children. Sci Rep;2026 (Apr 8)
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4. Chen L. The Roles of Different Executive Functioning Skills in Early Mathematics Ability of Preschoolers With Autism. J Autism Dev Disord;2026 (Apr 9)
BACKGROUND: This study aimed to investigate the differential contributions of core executive functioning (EF) components-working memory (WM), inhibitory control (IC), and cognitive flexibility (CF)-to formal and informal early mathematics abilities in Chinese autistic preschoolers compared to neurotypical peers, and to identify autism-specific cognitive correlates for targeted support. METHODS: A total of 130 preschoolers (autistic: n = 83; neurotypical: n = 47) aged 3-7 years completed standardized EF and mathematics assessments. To examine the unique contribution of EF skills to early mathematics ability, a three-step hierarchical regression was performed for each group. Step 1 included age and gender; step 2 added nonverbal IQ and verbal comprehension; and step 3 incorporated core EF skills (WM, IC, and CF) to assess their predictive power beyond the demographic and general cognitive factors. RESULTS: Autistic children had significantly lower EF and mathematics scores than their neurotypical peers (ps < 0.01). WM and CF were positively correlated with mathematics abilities in both groups (βs = 0.42-0.82, ps < 0.001), while IC was uniquely correlated with mathematics abilities in the autistic group (β = 0.58-0.73, p < 0.001). Crucially, EF components collectively explained significantly greater variance in informal mathematics in the autistic group (ΔR²=0.065, p < 0.001) than in the neurotypical group (ΔR²=0.027, p = 0.116) after accounting for covariates. CONCLUSION: IC is identified as a cognitive correlate characteristic of autism, and EF profiles predict mathematical development differently in autistic children than in neurotypical children. These findings highlight the need for EF-profile-targeted supports in early math instruction for autistic children, offering the first integrated evidence of the tripartite EF model's role in their mathematical development.
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5. Hart LC, Richardson C, Hanks C. Blood Pressure Trends among Autistic Youth Transitioning to Adult Care: A Retrospective Cohort Study. Am J Prev Med;2026 (Apr 9):108372.
INTRODUCTION: Autistic people have higher rates of cardiovascular disease and its risk factors than non-autistic peers. Transition from pediatric to adult health care is associated with health challenges for autistic people and may exacerbate cardiovascular risk for this population. However, this has not been studied extensively. This study sought to evaluate the relationship between transition to adult health care and blood pressure in a cohort of autistic adolescents and young adults. METHODS: This study used linked electronic medical record (EMR) data from pediatric and adult care from January 2011 to May 2020 for a cohort seen in a medical home for autistic youth to evaluate trends in blood pressures before and after the first visit in adult health care using a linear mixed model. Time-to-event analysis was used to determine the proportion of study subjects with two blood pressures meeting criteria for hypertension. RESULTS: Linear mixed model results showed no immediate significant differences in systolic (-1.1 mmHg, 95% CI -3.5 to 1.2) or diastolic (0.47, 95% CI -1.2 to 2.2) blood pressure related to transition to adult health care. Time-to-event analysis showed that over half the cohort had at least two elevated blood pressures over the study period, with the mean time to event being 2.5 years. CONCLUSIONS: The transition to adult health care was not associated with an increase in blood pressure in this cohort. Nonetheless, many of the youth in this cohort may meet the clinical definition of hypertension and merit closer monitoring and possible treatment of hypertension.
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6. Hiralal KR, Bouw N, Kok BR, Lubbers K, Dierckx B, Greaves-Lord K, Hillegers MHJ, Dieleman GC, Mous SE. Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development. J Neuropsychol;2026 (Apr 9)
Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross-sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age-matched heterogeneous ASD group and typically developing (TD) peers. Key domains assessed included basic visual social attention towards faces, autonomic arousal in reaction to conflicting emotional information and Theory of Mind (ToM). Participants comprised 14 children with FXS, 24 with ASD and 19 TD controls, aged 6-18 years. Visual attention and implicit emotion recognition were measured using an emotional oddball paradigm using gaze behaviour and pupillometric analysis, and ToM was assessed with the NEPSY-II neuropsychological test battery ToM subtest. Results indicated that children and adolescents with FXS directed their gaze less towards relevant social-emotional information (i.e., faces and especially eyes), compared with both the ASD and TD groups. Regarding implicit emotion recognition, the attentional disparity between the FXS group and the TD group was reduced when conflicting multisensory emotional information was presented, rather than congruent cues. Next, a diminished pupillary response to conflicting emotional information was found in the FXS group, as compared with the ASD group. Additionally, the FXS group showed difficulties with ToM, compared with the ASD and TD groups. These findings suggest that both deviations in basic and higher-order social cognitive abilities may contribute to the social difficulties experienced by individuals with FXS and may partly account for the high incidence of ASD diagnoses in this population.
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7. Ingol TT, Edwards JK, Wood ME, Martin CL, Dichter GS, Feldman K, Kinlaw AC, Daniels JL. Labor Epidural Analgesia and Autism Spectrum Disorder in Offspring: A Population-Based Case-Control Study. Autism Res;2026 (Apr 9):e70210.
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. eng
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8. Khamenehei N, Tokarskaya L. Prenatal Ultrasound-Detected Structural Anomalies Associated with Autism Spectrum Disorder: A Narrative Review. Consort Psychiatr;2026;7(1):24-35.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a globally increasing prevalence. Early detection is crucial for effective intervention, yet current diagnostic methods often result in delays. Emerging research suggests that prenatal biomarkers, including structural anomalies detectable via ultrasound, may offer opportunities for earlier identification. AIM: To synthesize current evidence on prenatal ultrasound-detectable anomalies associated with ASD and assess their potential as early predictors. METHODS: A comprehensive literature search was conducted across PubMed, Scopus, and Google Scholar for studies published between 2007 and 2025. Keywords included « autism spectrum disorder », « prenatal ultrasound », « fetal anomalies », « preeclampsia », « neurodevelopment » and « biomarkers ». Priority was given to recent and high-quality studies, including systematic reviews and large cohort analyses. The selected articles were read in full, and their key findings were summarized in a narrative form. The synthesis focused on describing the scope of the existing evidence, the prenatal ultrasound findings reported in relation to ASD, and on highlighting recurrent patterns or notable differences between studies. RESULTS: Several studies report associations between ASD and prenatal anomalies such as ventriculomegaly, increased biparietal diameter, hyperechogenic kidneys, and congenital heart defects. However, these findings are not specific to ASD and show inconsistent predictive performance. Sensitivity and specificity vary widely across studies, and ethical concerns about overdiagnosis and disparities in access to care persist. CONCLUSION: Prenatal ultrasound may contribute to early ASD risk identification but lacks the accuracy required for standalone diagnosis. Integrating ultrasound findings with genetic and postnatal data, along with standardized protocols and further research, is essential to improve its predictive value and clinical application.
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9. Kirkpatrick L, Harrison EI, Al-Faraj AO, Betstadt SJ, Dutton C, Friel EM, Kerr WT, Rivero-Guerra J, Rothenberger SD, Sheth AS, Terman SW, Woodrich N, Pennell PB. Epilepsy, Intellectual and Developmental Disabilities, and Contraception in U.S. Medicaid Claims Data. Obstet Gynecol;2026 (Apr 9)
OBJECTIVE: To evaluate how epilepsy and intellectual and developmental disabilities (IDD) affect contraceptive provision among females with Medicaid insurance. METHODS: We obtained Medicaid claims data from 2016-2021 for females aged 12-51 years. We excluded individuals with diagnosis codes for menopause and those who underwent sterilization in 2016-2017. Using a validated definition of epilepsy, we identified females who met the criteria for epilepsy in 2016-2017, and we identified a comparison group of females enrolled in 2016-2017 who never met the criteria for epilepsy. We used International Classification of Diseases, Tenth Revision codes from previous claims studies to determine IDD diagnoses. We ascertained contraceptive prescriptions from 2018-2021. To evaluate the effects of epilepsy and IDD and their interaction on contraceptive prescription, we performed a multivariable logistic regression for prescription of any contraceptive method from 2018-2021. We performed similar logistic regressions for prescription of individual contraceptive methods from 2018-2021 among females prescribed any method of contraception. RESULTS: Our final sample included 207,699 females with epilepsy and 3,573,052 females without epilepsy. The logistic regression for contraceptive prescription showed that, compared with females who did not have epilepsy or IDD, females with epilepsy were significantly more likely to be prescribed any contraceptive method (adjusted odds ratio [aOR], 1.05, 95% CI, 1.04-1.06, P<.007), females with IDD were significantly less likely to be prescribed any contraceptive method (aOR, 0.57, 0.56-0.58, P<.007), and there was intermediate likelihood of contraceptive provision to females with co-occurring epilepsy and IDD (aOR, 0.83, 95% CI, 0.81-0.85, P<.007). There were statistically significant differences in prescription patterns for specific contraceptives among females with epilepsy alone, IDD alone, co-occurring epilepsy and IDD, and neither epilepsy nor IDD. CONCLUSION: Epilepsy has a small and statistically significant effect on contraceptive prescription for females with Medicaid insurance, even when adjusting for confounders. There is a statistically significant interaction between epilepsy and IDD that affects overall contraceptive prescriptions and prescriptions for specific methods.
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10. Li J, Luo T, Ren X, Yang S, Quan H, Zhu Y, Tan S, Jia X, Yu P, Huang Y, Jiang Z, Xiang X, Guo H, Zhu T, Hu Z, Zhou M, Zhang Q, Li Y, Gong H, Liu R, He M, Zhou X, Han D, Wang Z, Bai T, Jian X, Zhao G, Li B, Shen Y, Ou J, Pan Q, Wang T, Guo H, Hu Z, Tang B, Xia L, Xia K. Haplotype-resolved long-read sequencing reveals parent-of-origin effects of tandem-repeat variation in autism spectrum disorder. Sci Bull (Beijing);2026 (Mar 25)
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11. Maddalon L, Altozano A, Minissi ME, Marín-Morales J, Romero GL, Parsons T, Hervás A, Alcañiz M. Adaptive VR intervention on social-cognitive skills in children with ASD: a feasibility study. Int J Clin Health Psychol;2026 (Jan-Mar);26(1):100675.
This study introduces and evaluates a novel virtual reality (VR) adaptive system that advances the state of the art by tailoring social-cognitive training to individual performance, addressing gaps in traditional interventions for children with Autism Spectrum Disorder (ASD). A sample of 23 children (aged 6-8 years) diagnosed with Level 1 ASD participated in a four-session program integrating traditional Theory of Mind tasks with gamified, adaptive VR environments. The online adaptive engine provides real-time support with hints (question repetition), feedback, and reinforcement strategies, while the offline engine adjusts difficulty levels between sessions based on performance. Pre- and post-test assessments using the Theory of Mind Test Battery (ToMTB) and Social Responsiveness Scale evaluated participants’ progress. Statistical analyses, including generalized linear mixed models and the Aligned Rank Transform, were used to examine behavioral and biosignal metrics such as motor movement and electrodermal activity (EDA). Results revealed significant improvements in ToMTB post-test scores, suggesting that the adaptive system positively influenced ToM abilities, while no significant changes were observed in the SRS-2 scores. Behavioral analysis indicated progressive accuracy gains and reduced reliance on hints across sessions. Kinematic analysis revealed that whole-body acceleration and displacement increased across sessions, while EDA indicated a significant rise in tonic mean, tonic variance, and phasic variance levels. These findings demonstrate the feasibility and potential efficacy of using adaptive training VR systems to address social-cognitive challenges in individuals with ASD. Future research should expand sample sizes and explore follow-up effects to optimize VR-based interventions.
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12. Marsh K, Nguyen NT, Burton T, Hicks S. Reliability, Accuracy, and Timeliness of Autism Telehealth Evaluations by Pediatricians. Telemed J E Health;2026 (Apr 9):15305627261440763.
OBJECTIVE: Early diagnosis of autism spectrum disorder (ASD) can facilitate timely intervention and improved developmental outcomes, but many children wait over a year for ASD evaluation. Telehealth assessments by pediatricians may address geographic and workforce barriers for children awaiting ASD evaluation. The goal of this study was to assess the reliability, accuracy, and timeliness of ASD telehealth evaluations by pediatricians. We hypothesized this approach would demonstrate reliability with specialist evaluation, concordance with in-person diagnosis, and wait-time reductions. METHODS: Thirty-two pediatricians received standardized training, completed fidelity/reliability testing, and utilized a novel evaluation model employing validated screening, parent-interview, and child observation tools. Interrater reliability of 32 pediatricians who administered 200 telehealth cases was assessed relative to blinded clinical supervisors. The diagnostic accuracy of 27 pediatricians who watched 19 video-recorded telehealth cases (494 total assessments) was compared to in-person diagnosis for the 19 children. Wait time for a telehealth assessment was compared to wait time for an in-person assessment for 2,483 children. RESULTS: There was 91.5% scoring agreement (95% CI: 0.893-0.932) between pediatricians and clinical supervisors (p < 0.001, K = 0.206) on 200 cases. On 19 video-recorded cases, there was 93.5% accuracy (PPV = 0.957; NPV = 0.811) between the in-person diagnosis and the 494 diagnoses provided by 27 pediatricians. The average wait time for 2,483 children who received telehealth evaluations (11.7 days) was shorter (W = 3.08 × 10(6), p < 0.001) than the average in-person wait time (11.8 months). CONCLUSIONS: These results demonstrate that telehealth evaluations by general pediatricians offer a reliable, accurate, and timely approach to ASD assessment through a scalable, nationwide model.
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13. Mohamed MM, SA EL, Hammouda SM. Risk factors for autism spectrum disorder among infants and children admitted in a neonatal intensive care unit. Dialogues Health;2026 (Jun);8:100288.
BACKGROUND AND OBJECTIVE: Autism Spectrum Disorder (ASD) is a diverse neurodevelopmental condition. This study aimed to highlight the prevalence and risk factors associated with the development of ASD in infants and children who have been admitted to the NICU. METHODS: A cross-sectional study was conducted on 66 pediatric outpatient clinic infants and children <3 years of age with a history of admission to NICU. CARS-2St questionnaire and Auditory brain response (ABR) were used. RESULTS: The percentage of ASD was 9.1% (6/66) and the mean total CARS-2-St-test score of ASD vs non-ASD cases was 35 ± 2.7 vs 18.58 ± 2.74, p = 0.001. Significant risk factors for ASD included premature rupture of membranes (p = 0.001), prematurity (p = 0.002), longer duration of admission (p = 0.038), and increased need for respiratory support (p = 0.034). The mean values of the absolute latencies of ABR waves III, IV, and V and the I-III and I-V intervals of the right and left ear were significantly increased in those with ASD. CONCLUSIONS: This study is exploratory and hypothesis-generating and highlights the importance of screening infants and children with a history of admission to NICU who have an increased risk of ASD, and should be screened even if they have no other neurological manifestations.
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14. Mourad J, Daniels K, Bogaerts K, Sourbron B, Meekers S, Vanbuel A, Van Beers R, Mattheeussen M, Desseilles M, Bonnechère B. Reframing Body Representations in Autistic Individuals: A Systematic Review. Autism Res;2026 (Apr 9):e70254.
Body representations (BR) are multidimensional constructs that shape everyday functioning, autonomy, and quality of life. They include body schema (BS): the action-oriented representation of the body that supports movement and sensorimotor regulation, and body image (BI): the conscious perceptual, affective, and cognitive experience of the body. In autism, alterations in BR have been linked to sensory processing, motor coordination, social interaction, self-perception, and identity, yet the overall structure of these components remains unclear. This systematic review aimed to define a conceptual framework for BR in autism, identify the domains most consistently reported as different from non-autistic comparison groups, and synthesize current evidence on assessment approaches and clinical implications. Following PRISMA guidelines, we reviewed 54 studies published between 2000 and 2025, comprising 2982 participants. The findings showed a marked predominance of research on BS (81% of studies), particularly sensorimotor dimensions such as interoception (9 studies), proprioception (4 studies), and multisensory integration (3 studies). By contrast, BI was substantially less investigated, despite emerging evidence linking it to body dissatisfaction, body dysmorphic concerns, and identity-related difficulties. Across studies, BR differences were most often described in relation to bodily awareness, movement regulation, emotional processing, and self-referential perception. The review also highlighted major methodological limitations, including heterogeneity of constructs and an overreliance on self-report tools. Overall, BR emerges as a clinically relevant but still underdeveloped domain in autism research, underscoring the need for more comprehensive, developmentally sensitive, and multimodal assessment approaches. How autistic individuals experience and understand their bodies affects daily life, quality of life, and independence. In our review of 54 studies, most research focused on movement and body awareness, while body image was rarely studied; we also found differences between children and adults. Clear, practical tests are needed so support can be better tailored to everyday needs. eng
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15. Nürnberg D, Altgassen M. Event- and Time-Based Prospective Memory and Time Perception in Autistic Adults With and Without Intellectual Disabilities. Autism Res;2026 (Apr 9):e70250.
The aim of this study was to examine time perception (i.e., the sense of the duration, order and passage of time) and event- and time-based prospective memory (PM; i.e., the ability to recall an intention to perform an action in the future) in adults across the wider autism spectrum including those with intellectual disabilities. Sixty-four adults, aged 18-65 years, took part in the study (32 autistic, 32 neurotypical controls). Participants were tested using computerized event- and time-based PM tasks and two different time perception tasks (naturalistic vs. comprehensive consisting of time estimation, time production and time reproduction). Results showed no differences between the groups in both PM tasks after controlling for verbal abilities. Moreover, both groups displayed comparable performance in event- versus time-based PM tasks. Autistic participants showed difficulties in time perception in comparison to neurotypical controls in the naturalistic, but not in the comprehensive time perception task. In both groups better performance in time perception was linked to better event- and time-based PM performance. Given the high relevance of PM in everyday life, further research is needed to support autistic individuals in their day-to-day lives. This is one of the first studies investigating PM in autistic adults, including those with intellectual disabilities, a part of the spectrum that is often overlooked. Time perception, how someone understands the passing of time, and prospective memory, the ability to remember what you want to do in the future, were investigated in autistic and non‐autistic participants with and without intellectual disabilities. The prospective memory performance was the same for both groups. Autistic participants had difficulties with naturalistic time perception compared to non‐autistic controls. For both groups, performance in prospective memory and time perception was related; better memory for future intentions was associated with better time perception. A better understanding of time might help autistic individuals improve their prospective memory. eng
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16. Peñalba F, Guisande A, Lamberti L, Rusiñol C, Irastorza M, Konik F, Iglesias C, Mendive P, Garrido G, Parada A, Riera N. Gut microbiota and its association with gastrointestinal symptoms and pharmacological treatments in a sibling-matched cohort with autism spectrum disorder. Front Microbiomes;2026;5:1777385.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder marked by difficulties in communication, social interaction, and restricted, repetitive behaviors. The gut microbiota has emerged as a key factor in the gut-brain axis relevant to ASD. We conducted a cross-sectional study comparing the gut bacterial composition of children with ASD (n=29) and their neurotypical siblings (NT, n=29). To minimize environmental and lifestyle confounders, all pairs were 4 to 10 years old and cohabiting in the same household in Uruguay. We used full-length 16S rRNA gene (V1-V9) sequencing with the latest R10.4.1 Oxford Nanopore Technologies chemistry, enabling high-resolution microbial characterization. While overall β-diversity did not differ significantly between the ASD and NT groups, we identified specific taxonomic shifts. The ASD group was enriched in taxa like Sellimonas, while the NT group showed enrichment of genera like Faecalibacterium and Coprococcus. Furthermore, we found GI symptoms to be significantly more prevalent in the ASD group and some bacterial genera associated with GI symptomatology. In addition, we explored the association of pharmacological treatments. Antipsychotic use was associated with reduced Akkermansia abundance, whereas melatonin and methylphenidate use were associated with the enrichment of Negativibacillus. This study provides novel insights into the gut microbiome of Uruguayan children with ASD, delineating the influence of GI symptoms and pharmacological load on microbial diversity and composition.
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17. Sanna M. Proprioception and Cognitive Polarization in Autism: The Bipolar Tensile Model. Consort Psychiatr;2026;7(1):49-59.
This article introduces the Bipolar Tensile Model, a neurosemiotic and integrative framework for understanding Autism Spectrum Disorder (ASD). The model reinterprets ASD not as a collection of deficits, but as the outcome of an unresolved tension between two complementary hemispheric cognitive modalities: symbolic-sequential and corporeal-perceptual. In typical development, these modalities are dynamically harmonized through an extended interhemispheric network, comprising the Default Mode Network, major cerebral commissures (corpus callosum, anterior and hippocampal), and the cerebellum. In ASD, the instability of this mediating system disrupts proprioceptive integration and generates polarized cognitive configurations, such as operational rigidity, sensory disorganization, and repetitive behaviors. Proprioception is understood not as a peripheral sensory channel, but as a semiotic regulator of interhemispheric coherence and embodied self-awareness. Drawing on a narrative synthesis of clinical, neuropsychological, and neurophysiological literature – and supported by representative clinical cases – the model highlights how interhemispheric disconnection and proprioceptive instability interact to shape atypical developmental patterns. It proposes compensatory adaptation, including local hyperconnectivity and symbolic overcompensation, as central mechanisms in the formation of ASD profiles. By integrating insights from semiotics, systems neuroscience, and embodied cognition, the Bipolar Tensile Model provides new perspectives on diagnosis, clinical interpretation, and individualized therapeutic approaches, with particular attention to the early identification of proprioceptive dysfunction and the design of integrative rehabilitation protocols.
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18. Savaldi-Harussi G, Robinson-Harshoshanim Y. Effectiveness of adapted vowel-based literacy instruction in minimally verbal adolescents with autism and intellectual and developmental disability. J Commun Disord;2026 (Mar 27);121:106640.
BACKGROUND: Literacy skills enhance communication for students who use or need augmentative and alternative communication (AAC); however, many are not targeted in literacy instruction due to low educational expectations and limited evidence-based practices. PURPOSE: This study examined the effectiveness of adapted Hebrew vowel-based literacy instruction for minimally verbal (MV) adolescents with autism and intellectual disabilities (ID), addressing a research gap in this population. METHODS: Three MV adolescents with autism and ID (ages 11-16) participated in a multiple baseline design for adapted vowel instruction (module 1), following an AB design with two students for three sequential consonant-vowel (CV) modules. Each module spanned 6-8 sessions. Five vowels (a, e, i, o, u), five CV syllable combinations per consonant module (/m/, /sh/, /l/), and 10 related words were targeted, utilizing visual-spatial adaptations and nonverbal response options. RESULTS: Evidence supported a functional relationship between adapted vowel instruction and students’ vowel identification (TAU-U = 0.643, p < 0.001), with two participants showing significant gains and all three meeting the visual analysis criterion. Improvements were observed in CV syllables (/m/, /sh/) for two students. Word identification showed limited gains. CONCLUSIONS: Adapted Hebrew vowel-based instruction supported a functional relationship in improving vowel performance among MV adolescents with autism and ID, with positive improvement in syllable (CV) identification for two students. Limited word-level gains underscore the need for further research on contextual and semantic supports beyond phonics decoding. Teachers' positive responses and sustained student engagement demonstrate the feasibility of this approach for this underrepresented population.
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19. Shen K, Huang J, Liu D, Lu Q, Kang X, Yan Y. Alterations of several types of metabolites related to microbiota-gut-brain axis in urine of children with autism spectrum disorder. Front Psychiatry;2026;17:1784658.
INTRODUCTION: Multiple studies have shown that autism spectrum disorder (ASD) is accompanied by abnormalities in multiple metabolic pathways, however, the fluctuations of certain metabolites involved in these pathways have shown controversial results. This study aimed to identify metabolic characteristics that can distinguish children with ASD by using targeted metabolomics analysis on several types of metabolites related to the microbiota-gut-brain axis. METHODS: A total of 54 children with ASD and 47 healthy children (HC) were recruited. Data from the Autism Behavior Checklist (ABC) scale for children with ASD were collected. Based on chromatography/mass spectrometry analysis, the metabolic characteristics of several types of metabolites related to the microbiota-gut-brain axis were discovered in urine samples. Single-variable and multi-variable analyses were conducted using MetaboAnalyst 6.0 and SPSS 27.0.1 to identify potential differential metabolites. The association between differential metabolite concentrations and ABC scores in children with ASD was evaluated using Spearman’s rank correlation analysis. RESULTS AND DISCUSSION: Seven differential indicators, namely the ratio of cortisol to cortisone (R), creatinine, cortisol, taurine, histamine, homocysteine, and methionine were identified. The combined index diagnostic model constructed based on these indicators demonstrated strong discriminatory power, with an area under the receiver operating characteristic (ROC) curve of 0.943, a sensitivity of 92.6%, and a specificity of 93.7%. The above-mentioned biochemical indicators may be involved in the pathological physiological process of autistic behavioral symptoms from different aspects. These findings contribute to a better understanding of the underlying mechanisms of ASD.
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20. Stankewitz D, Martin P. Efficacy and tolerability of felbamate in adults with severe intellectual and developmental disabilities and drug-resistant epilepsy: A single-center evaluation. Seizure;2026 (Mar 26);138:29-35.
INTRODUCTION: Adults with severe intellectual and developmental disabilities (IDD) frequently suffer from treatment-resistant epilepsy, often with early onset and multiple seizure types. Felbamate (FBM), initially promising for refractory epilepsy, fell out of favor following reports of aplastic anemia and hepatic failure. Subsequent analyses, however, partly mitigated these concerns. METHODS: This retrospective, single-center, single-arm study assessed the long-term efficacy and safety of FBM in 92 adults with severe IDD and refractory epilepsy. Clinical effectiveness, tolerability, and retention were evaluated at two assessment points: T1 (∼6 months) and T2 (∼71 months) after therapy initiation. Secondary analyses explored associations with daily dose, serum concentration, and patient characteristics. RESULTS: Mean treatment duration was 52.2 ± 46.2 months. Responder rates were 50.6% at T1 and 63.3% at T2; seizure freedom was achieved in 8.3% at T2. Effective doses ranged from 900 to 4,500 mg/day (serum levels: 17-122 µg/ml). The 5-year retention rate was 66%. Most discontinuations (69%) occurred within the first 12 months. Adverse effects occurred in 58%, most commonly appetite loss, fatigue, and sleep disturbances. Laboratory abnormalities (16.3%) were generally mild; two cases required intervention. No cases of aplastic anemia or liver failure were observed. No significant predictors of response or adverse effects were identified. CONCLUSION: Felbamate may provide sustained clinical benefit in adults with severe IDD and refractory epilepsy when used under structured clinical and laboratory monitoring.
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21. Taylor A, Newman G, D’Adamo CR. Elimination of Autism Symptoms Using the Specific Carbohydrate Diet: Literature Review and Case Report. Integr Med (Encinitas);2026 (Feb);25(1):20-28.
Numerous publications have documented the effectiveness of medical nutrition therapy in alleviating several autism symptoms. This case report reviews the literature and highlights the case of a 4-year-old boy with autism and his improvements following the adoption of the Specific Carbohydrate Diet (SCD) protocol, which eliminates sugars (except for honey and fruit), grains, lactose, and processed foods. After following the SCD for 17 months, he experienced the elimination of autism symptoms, and his individualized education program (IEP) was dissolved. Long-term follow-up and diagnostic re-evaluation with the Autism Diagnostic Observation Schedule (ADOS) confirmed an ADOS score of zero. The young man is now 19 and is studying in college. While this case and the literature to date are promising, further investigation is warranted to understand the relationship between gastrointestinal issues, intestinal permeability, nutritional interventions, and autism spectrum disorders.
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22. Tiosso Batistetti V, Sanchez FG, Varaona A, Lara-Abelenda F, Pinto da Costa M, Chart-Pascual JP, Rodriguez-Quiroga A, Quintero J, Alvarez-Mon MA. Evaluating Public Sentiment on Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Compared With Other Mental Health Disorders From Posts on X (Formerly Known as Twitter): Longitudinal Analysis. JMIR Infodemiology;2026 (Apr 9);6:e74440.
BACKGROUND: Neurodevelopmental disorders, especially attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), have seen a marked rise in public attention, yet research on public opinion remains limited. Social media analysis offers real-time, unfiltered insights into public perceptions, enabling empirical examination of public attitudes and opinions. OBJECTIVE: This study aimed to assess the evolution of public opinion on ADHD and ASD between 2009 and 2023 by analyzing posts from X (formerly known as Twitter; X Corp), comparing perceptions across English and Spanish languages and against other mental health conditions. METHODS: Posts mentioning keywords related to ADHD and ASD and control conditions (eg, depression, anxiety, insomnia, bipolar disorder, schizophrenia, suicide, and substance use disorders) were collected from X between 2009 and 2023. The dataset included posts in both English and Spanish. Machine learning algorithms were then applied to classify post content into predefined categories, including volume of posts, engagement, personal experiences, trivialization, perceived causes, and perceived treatability. Parametric and nonparametric tests were used to assess for differences by language. Descriptive statistics were presented using tables and graphical representations. RESULTS: A total of 852,990 posts were analyzed, including 511,510 (59.97%) in English and 341,480 (40.03%) in Spanish. Overall, post volume on mental health conditions increased across the study period. In English, posts about ADHD (97,084/511,510, 18.98%) and ASD (74,619/511,510, 14.59%) were among the most frequent, while of the 341,480 Spanish posts, there were 49,475 (14.49%) ASD posts, significantly outnumbering ADHD posts (n=18,223, 5.34%; chi-square test P<.001). Engagement analysis indicated a notable increase in likes and reposts per post over time, particularly after 2019, with ADHD-related posts in English experiencing peak engagement during the COVID-19 pandemic. However, ASD posts had comparatively lower engagement across languages. Posts sharing personal experiences were more polarized in Spanish, with higher proportions of negative and positive experiences compared with English posts. Trivialization of mental illnesses was less common in Spanish posts than in English posts, particularly for ADHD (17,053/18,223, 93.59%; chi-square test P<.001) and ASD (41,933/49,475, 84.73%; chi-square test P<.001). User-perceived causes included multifactorial factors, biological or genetic factors, substance use, psychological susceptibility, acute psychosocial stressors, and COVID-19. Perceived treatability varied by language but consistently included high perceived incurability, limited improvement despite professional help, and low perceived self-manageability except for anxiety. CONCLUSIONS: Analysis of social media discourse showed that ADHD attracted higher post volumes, particularly during the COVID-19 pandemic, often described with multifactorial causes including substance use and genetics. ASD consistently received lower engagement. Both language groups showed low trivialization, awareness of the chronicity of the illness, and limited support for the self-management of mental health conditions. These findings underscore social media's value for capturing direct public perceptions to guide future educational and intervention efforts.
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23. Zechi-Ceide RM, Segarra VCD, Vendramini-Pittoli S, Serigatto HR, Virmond L, da Cunha Palhares HM, Jehee F, Krepischi ACV, Rosenberg C, Grangeiro CHP, Kokitsu-Nakata NM. Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism. Am J Med Genet A;2026 (Apr 8)
The transformation/transcription domain-associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell-cycle regulation. Heterozygous missense variants in the TRRAP gene have been associated with a multiple system condition known as developmental delay with or without dysmorphic facies and autism (DEDDFA; OMIM #618454), hearing loss, and different types of cancer. Strong genotype-phenotype correlation has been observed in DEDDFA, where missense variants located in the clustering between residues 1031-1159 result in more pronounced facial anomalies associated with a variable degree of intellectual disability. Here, we report two Brazilian females with syndromic orofacial cleft, presenting very similar atypical facial phenotypes and multisystem anomalies. Both had a severe phenotype with global developmental delay, ranging from moderate to severe, and one of them had a severe behavior disorder associated with non-verbal autism while the other had inguinal cancer. Next-generation sequencing showed that both displayed heterozygous missense variants in the TRRAP gene, clustering at the 1031-1159 amino acid residues. These cases reinforce the genotype-phenotype correlation of variants in the TRRAP gene with a possible new domain in the cluster 1031-1159.