Pubmed (TSA) du 17/10/26
1. Boutrid N, Rahmoune H. Fragile X primary ovarian insufficiency. Colomb Med (Cali). 2026; 57(1): e7017436.
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2. Chau KH, LaSalle JM. Modifiers of Genetics in ASD Etiology. Curr Top Behav Neurosci. 2026.
Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental condition with a multifactorial genetic architecture, with risk arising from the interplay between genetic and environmental factors. Although there is a strong heritable component, identified genetic variants explain only a proportion of its susceptibility. Mutations in individual genes or copy number variants (CNVs) each account for less than 1% of cases, while collectively, rare de novo mutations and CNVs are estimated to contribute to approximately 20% of ASD cases. This incomplete explanation of ASD risk through identified genetic variants suggests that additional mechanisms, including gene by environment (G×E) interactions, may contribute to ASD risk.Epigenetic mechanisms, including DNA methylation, provide an intermediate molecular phenotype through which genetic susceptibility and environmental exposures converge to influence neurodevelopment. Furthermore, consideration of sex by environment (S×E) interactions may help elucidate sex-related differences in ASD prevalence and molecular phenotypes. This chapter synthesizes current evidence for epigenetic mechanisms underlying ASD, with a focus on how genetic susceptibility, prenatal environmental exposures, and biological sex may interact to shape epigenomic patterns relevant to neurodevelopment and ASD risk.
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3. Gallego-Jiménez MG, Torrecilla-Manresa S, García-Bravo C. Correction: « Listening to the word autism changes everything »: the impact of an Autism Spectrum disorder diagnosis on families. Front Psychol. 2026; 17: 2002051.
[This corrects the article DOI: 10.3389/fpsyg.2026.1919815.].
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4. Kang S, Ghosh Choudhuri P, Sridhar A, Landa Y, Kim ES, Locke J. « Our Principal Makes It Happen »: The Role of Implementation Leadership in Supporting Evidence-Based Practices With Autistic Children in Inclusive Settings. Autism. 2026: 13623613261491797.
With the growing inclusion of autistic children in general education settings, the need for effective use of evidence-based practices (EBPs) in schools has become increasingly important. Leadership behaviors by principals and administrators that support educators’ use of EBPs with autistic children play a crucial role in promoting and sustaining these practices. This study aims to understand implementation leadership in schools quantitatively and qualitatively. In this mixed-methods study, participants included 161 general education teachers, 138 special education teachers, and 62 paraeducators (N = 361). Participants completed the School Implementation Leadership Scale (SILS), which assesses the degree to which their school leader is knowledgeable, supportive, proactive, perseverant, communicative, centered on the school’s vision/mission, and available. Eighty-two participants were randomly selected for an interview to discuss their high or low EBP implementation. Quantitative analysis via aggregated mean scores on the SILS subscales (Total M = 2.4) shows educators rate their school’s leadership qualities in the moderate range. Qualitative analysis provides insights into the educators’ expressed needs and desires when it comes to support from their leadership. The results highlight the importance of strong leadership to improve the implementation of EBPs for autistic children in general education settings. Authors discuss implications and recommendations to support educators’ EBP use.Lay AbstractAs more autistic children are included in general education classrooms, it is increasingly important for schools to use research-supported strategies known as evidence-based practices (EBPs). School leaders, such as principals and administrators, play a crucial role in helping teachers implement these practices consistently and effectively. This study aims to understand the perspectives of 361 educators, including 161 general education teachers, 138 special education teachers, and 62 paraeducators, regarding the support they receive from school leadership in using EBPs with autistic children. Participants completed a survey called the School Implementation Leadership Scale, which included questions about various leadership qualities, such as being knowledgeable, supportive, proactive, perseverant, communicative, aligned with the school’s vision and mission, and available to support the use of EBPs. On average, educators rated their school leadership as moderately supportive. To further explore educators’ experiences, selected participants were also invited to participate in interviews. These interviews provided deeper insights into what educators find most helpful from school administrators when implementing EBPs for autistic children. The results emphasize the importance of strong, supportive leadership in building a positive and inclusive school environment and helping educators use EBPs. The authors offer practical recommendations to help school administrators better support their staff in using EBPs.
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5. Mendes M, Zhou X, Vorstman J, Scherer SW. Translational Neuroscience of Autism Spectrum Disorder : Genetics: Contribution Not Correlation. Curr Top Behav Neurosci. 2026.
Ever since the observation of a robust heriditary component of autism, the scientific community has invested efforts and resources toward the identification of genetic variation associated with this condition. The current chapter provides an overview of of these efforts in a historical context, outlining how increasingly precise methods to query the genome along with unprecedented levels of international collaboration are starting to eludicate the complex genetic architecture of autism.
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6. Park SH, Cho SJ, Kang N, Joung YS. Differences in autism features and adaptive functioning between adolescents with autism spectrum disorder and social communication disorder. Front Psychiatry. 2026; 17: 1961001.
INTRODUCTION: This study aimed to characterize adolescents with social communication disorder (SCD) in comparison with those with autism spectrum disorder (ASD) across two dimensions: autism features and adaptive functioning. SCD shares social communication difficulties with ASD, resulting in unclear diagnostic boundaries and raising concerns about its clinical utility given that existing research and resources remain largely ASD-oriented. METHODS: Data from 76 adolescents with ASD and 44 with SCD (ages 10-18 years) were analyzed. Lifetime and current autism features were assessed using the Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale, Second Edition (SRS-2), respectively, and adaptive functioning using the Vineland Adaptive Behavior Scales, Second Edition. Propensity score matching was performed using age and Full-Scale Intelligence Quotient, and group differences were compared before and after matching. Exploratory interaction analyses additionally examined potential moderators of group differences. RESULTS: After matching, adolescents with SCD showed less severe lifetime autism features across the core ADI-R domains, with large effect sizes (ds = .98-1.34, all p <.001). Current autism features showed smaller group differences, which remained significant across all SRS-2 subscales except Social Motivation (ds = .46-.68, p = .004-.046). Adolescents with SCD showed better adaptive functioning than those with ASD, although group differences in Communication (p = .085) and Socialization (p = .144) were no longer statistically significant after matching. Psychiatric comorbidity moderated group differences in Communication, Socialization, and overall adaptive functioning, while attention-deficit/hyperactivity disorder showed a similar but less robust pattern for Communication, which did not remain significant after correction. DISCUSSION: Overall, accounting for age and intellectual ability, the distinction between ASD and SCD remained evident at the symptom level, whereas functional differences were partly influenced by these factors. These findings suggest that diagnostic classification alone may not fully capture the functional needs of adolescents with ASD and SCD, highlighting the importance of a multidimensional approach that considers symptom profiles, adaptive functioning, developmental and intellectual factors, and psychiatric comorbidity.
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7. Pemberton E, Milne E, Fox JRE. Why Do You Think You’re More Likely to be Queer? Exploring Autistic Perspectives on the Intersection Between Autism and Sexual Minority Identities. Autism. 2026: 13623613261490599.
Autistic individuals are more likely to be sexual minorities (e.g., gay, lesbian, bisexual, asexual). While several theories have been posited to explain this overlap, the voices of autistic sexual minorities are missing from this conversation. Moreover, there is limited qualitative research exploring the intersection between their dual identities. The co-creation of research by autistic sexual minorities is, therefore, an ethical imperative. This research used semi-structured interviews, facilitated by the shared lived experience of the lead researcher. Fourteen autistic sexual minorities were asked why they think they’re more likely to be sexual minorities and how they experience the intersection between their two identities. Reflexive thematic analysis identified four themes: (a) my identities are interconnected, for better or worse, (b) resisting the influence of social norms on sexual orientation, (c) the intersection between autism and a-spec (asexual and aromantic) identities and (d) being autistic within the LGBTQIA+ community. These findings validate intersectionality as a framework for understanding autistic sexual minority identities and suggest that an indifference to social norms is key to autistic sexual minority identities. Recommendations are provided to facilitate inclusive, LGBTQIA+ spaces and develop educational resources to help autistic sexual minorities navigate attraction, intimacy and consent.Lay AbstractAutistic people are more likely to be sexual minorities (e.g., gay, lesbian, bisexual, asexual). Several theories have attempted to explain why this is; however, the actual voices of autistic sexual minorities are missing from this conversation. In addition, there is very little research exploring how their two identities intertwine. As such, a researcher who is part of this community interviewed 14 autistic sexual minority adults to find out why they think they’re more likely to be sexual minorities and how their autistic and sexual minority identities influence one another. Through analysing these conversations, four main themes were identified: (a) my identities are interconnected, for better or worse, (b) resisting the influence of social norms on sexual orientation, (c) the intersection between autism and a-spec (asexual and aromantic) identities and (d) being autistic within the LGBTQIA+ community. These findings suggest that autistic and sexual minority identities combine to produce a unique lived experience. Participants suggested that they may be more likely to be a sexual minority because they don’t care about following typical social norms. Recommendations are given to create more inclusive LGBTQIA+ spaces and develop educational tools to help autistic people navigate the complexities of attraction, intimacy and consent.
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8. Pierote MR, Rocon IP, da Silva GG, Soares FLP. Predictors of body appreciation in mothers of children living with ASD: the role of physical activity, self-compassion, and emotional eating. Front Nutr. 2026; 13: 1775100.
INTRODUCTION: Mothers of children living with Autism Spectrum Disorder (ASD) often experience high levels of emotional overload, which can negatively impact their eating behaviors and body image. In this context, body appreciation-a key facet of positive body image-serves as an important protective factor. However, evidence regarding the determinants of body appreciation among caregivers of children with ASD remains limited. This study aimed to investigate the sociodemographic, clinical, lifestyle, and psychological factors associated with body appreciation in mothers of children living with ASD. MATERIALS AND METHODS: This cross-sectional study evaluated 143 mothers of children with ASD residing in Espírito Santo, Brazil. Data were collected online through self-administered questionnaires assessing sociodemographic and clinical characteristics, nutritional status, lifestyle habits, self-compassion, emotional eating, and body appreciation. Multiple linear regression analysis was conducted using Jeffreys’s Amazing Statistics Program (JASP, version 0.18.0) to identify predictors of body appreciation. RESULTS: Multiple regression analysis demonstrated that higher body appreciation was significantly predicted by engagement in physical activity (β = 0.293; p = 0.044), child’s age over six years (β = 0.329; p = 0.016), and higher self-compassion (β = 0.440; p < 0.001). High Body Mass Index (BMI) (β = -0.034; p = 0.005) and emotional eating (β = -0.010; p < 0.001) were inversely associated with body appreciation. DISCUSSION: Self-compassion and physical activity emerged as key positive correlates of body appreciation, whereas elevated BMI and emotional eating were identified as negative predictors in this population. Given the cross-sectional design, longitudinal studies across diverse geographical settings are needed to confirm causality and support generalizability. Identifying these predictors provides actionable insights for designing targeted interventions aimed at promoting positive body image and mitigating dysfunctional eating behaviors in mothers of children with ASD.
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9. Poliakoff E, Hall A, Edmonds E, Baimbridge P, Copitch G, Hanks G, Sullivan M, Gowen E. Experience in action: Using art-science activities to explore experiences of movement and the body in Parkinson’s and autism. J Neuropsychol. 2026.
To explore possible new directions for sensorimotor research, we created experiential workshops for people with lived experience. Seven people with Parkinson’s and six older autistic adults attended artist-led drop-in art-science workshops, designed with advisors with lived experience. Open-ended activities based on sensorimotor experiments provoked spontaneous and unexpected conversations between visitors and researchers about their experiences of movement and the body. We invite others to apply this informal playful approach, which was both enjoyable and effective in generating future research ideas.
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10. Savickaite S, Li R, Nagai Y. Beyond heartbeats: re-thinking interoception in autism through virtual reality and computational modelling. Front Neural Circuits. 2026; 20: 1934104.
Interoception, the sensing and interpretation of internal bodily signals, is increasingly invoked to explain heterogeneity in autism, yet empirical findings remain inconsistent. A major reason is methodological: the field remains cardio-centric and relies heavily on heartbeat counting tasks and trait questionnaires, which are vulnerable to cognitive strategies, attention, expectancy effects, and confounds such as alexithymia and anxiety. Autism research further indicates that interoception is multidimensional (accuracy, sensibility, metacognitive awareness) and developmentally dynamic, with evidence for dissociations across components and compensation across the lifespan. We argue that progress requires reframing interoception as an inference problem: the brain estimates hidden physiological states from noisy sensory evidence under context-dependent precision weighting (predictive processing/active inference). Building on this framework, we propose a participatory, multimodal research program for autism that integrates (i) lived experience as hypothesis-shaping data, (ii) virtual reality (VR) as an experimental testbed to manipulate embodiment, sensory load, agency cues, and feedback, and (iii) computational physiological modelling to estimate latent cardiovascular-respiratory and autonomic-control parameters, which could subsequently constrain separately specified models of perceptual inference.
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11. Silverman JL, Haouchine OY, Roy D, Monsen ER. The Importance of Translational Research for Neurodevelopmental Disorders and Autism Spectrum Disorders. Curr Top Behav Neurosci. 2026.
Translational research is the process of transforming fundamental biological discoveries into safe and efficacious interventions for patients. This specialized field is of particular importance for neurodevelopmental disorders (NDDs), a broad class of behaviorally defined conditions including autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD), intellectual and developmental disabilities (IDDs), and related disorders. NDDs present unique translational challenges including (i) a lack of biological diagnostic markers; (ii) the fact that they are diagnosed exclusively by behavioral criteria; (iii) their involvement of dysfunction in complex brain circuitry; and (iv) that there is no single unifying biological mechanism. This chapter reviews the current landscape of translational neuroscience for NDDs, examining the strengths and limitations of preclinical model systems, including rodent models humanized mice, human induced pluripotent stem cells (iPSCs) 3D spheroids and brain organoids. This work emphasizes that research emanating from the varying preclinical experimental systems above should be leveraged and their complementary strengths integrated, coordinated, and considered collaboratively, to strengthen current knowledge, identify the remaining research gaps, and prioritize future research. We also emphasize the importance of rigorous, reproducible methodology and conservative interpretation of behavioral and functional outcomes. Discussion is presented on key translational bridges or connections that are urgently required to advance the field: bridging non-human model systems to humanized models, identifying and validating translational biomarkers, bridging in vitro and in vivo findings, and developing corroborative alternatives to animal models. It is our stance that integrating multiple complementary model systems, limiting erroneous behavioral inferences, relying on evolutionarily conserved circuits, and prioritizing robust and reproducible outcome measures will reduce failures in the translational pipeline and accelerate the development of meaningful therapies for individuals with NDDs.
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12. Suárez Fuentes SM, Sr., Cardenas MA, Gomez Marquez V, Hernández González LF, Cervantes De Anda JJ, Rodríguez-Garza M, Castro Olmedo SM. Giant Mixed-Material Gastric Bezoar With a Synchronous Jejunal Bezoar in a Young Woman With Pica and Autism Spectrum Disorder: A Case Report. Cureus. 2026; 18(9): e116358.
Bezoars are conglomerates of indigestible material retained within the gastrointestinal tract and may produce obstruction, ulceration, bleeding, or perforation. Mixed-material bezoars containing nonfood foreign bodies are uncommon and may be particularly challenging in patients with persistent pica. We report a 21-year-old woman with autism spectrum disorder (ASD), mild intellectual disability, previously diagnosed pica, and a seizure disorder treated with carbamazepine who presented after nearly one month of recurrent fever, colicky abdominal pain, progressive distension, early satiety, constipation, and nonbilious alimentary vomiting. Examination demonstrated abdominal distension and a firm, poorly defined epigastric-mesogastric mass without peritoneal irritation. Leukocytosis with neutrophilia was present. Abdominal radiography showed marked gastromegaly with mottled intragastric radiolucency, and computed tomography (CT) demonstrated a stomach almost completely occupied by heterogeneous solid material. Upper endoscopy confirmed a large gastric foreign-body mass. Exploratory laparotomy revealed marked gastromegaly and, unexpectedly, a separate bezoar obstructing the proximal jejunum that had not been identified preoperatively. A 15-cm anterior gastrotomy permitted removal of 3,000 g of material, and a 5-cm antimesenteric jejunotomy permitted removal of an additional 500 g. The two masses were not physically connected and contained plastic bags and bottle fragments, plastic caps, candy wrappers, adhesive tape, hair, plant fibers, and metallic staples. Both enteric incisions were closed in two layers, with an outer Lembert layer. Oral liquids were initiated on postoperative day 5 and advanced as tolerated; the patient was discharged on postoperative day 8 without leak, infection, or other surgical complications. Follow-up at one week after discharge and at one month showed favorable recovery. This case highlights the diagnostic importance of considering synchronous distal bezoars in patients with severe pica and a massive gastric bezoar, particularly when preoperative imaging identifies only the dominant gastric lesion.