Pubmed du 13/11/25
1. People with autism deserve evidence-based policy and care. Nat Med. 2025; 31(11): 3571.
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2. Alfakeh SA, Aljahdali GH, Benfeef ST. Autism spectrum disorder in Saudi Arabia: Clinical dynamics from a multi-center study. Saudi Med J. 2025; 46(11): 1382-90.
OBJECTIVES: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairments in communication, social interaction, and behavior. This study aimed to explore the factors influencing the clinical presentation of children with ASD in Saudi Arabia, focusing on demographic, medical, and environmental determinants. METHODS: A multi-center, cross-sectional study was conducted in Saudi Arabia, enrolling 104 children diagnosed with ASD. Data were collected via structured parent interviews and analyzed to examine the relationships between demographic characteristics, therapy participation, self-care abilities, and clinical symptoms. RESULTS: Male children were more likely to exhibit hyperactivity compared to females (p=0.037). Age was significantly associated with delayed speech (p=0.003), aggression (p=0.034), attention deficits (p=0.006), sleeping problems (p=0.001), and anxiety (p=0.007). Self-care abilities – such as bathroom independence and dressing – improved significantly with age (p<0.05). Therapy participation varied with 49% receiving speech therapy, 44.2% engaged in behavioral therapy and 5.8% currently undergoing physiotherapy. Approximately, 34.6% had received occupational therapy for less than one year. CONCLUSION: The clinical presentation of ASD in Saudi Arabia is influenced by demographic and environmental factors, highlighting the need for early diagnosis and individualized interventions. The findings underscore the importance of improving therapy access and parental support to address persistent challenges, such as hyperactivity, learning difficulties, and limited self-care skills.
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3. Álvarez-Aguado I, Muñoz La Rivera F, Vega V, Figueroa-Figueroa J, Roselló-Peñaloza M, González-Carrasco F, Arriagada-Chinchón R, Espinosa Parra F, Spencer H, Farhang M. From access to agency: how assistive and emerging technologies mediate self-determination in autistic adulthood. Disabil Rehabil Assist Technol. 2025: 1-15.
Assistive and emerging technologies matter not only for the access they provide, but for what they enable autistic adults to decide and do. Guided by the Causal Agency Theory, this cross-sectional qualitative descriptive study used semi-structured interviews with 106 autistic adults in Chile to examine how everyday technologies shape choice, self-regulation, and beliefs about one’s capacity to act. We analysed the data using a hybrid inductive-deductive reflexive thematic approach, which yielded five thematic areas: technology as a context for choice-making; digital scaffolds for planning, pacing, and adaptive replanning; empowerment through feedback calibrated to personal goals; autonomy negotiated through consented interdependence; and barriers and ethical tensions that undermine control. Technology supported self-determination when it preserved authorship of decisions, provided simple refusal and reversible settings, protected attention, and respected privacy and sensory needs. Agency was compromised when configurations were imposed by others, automation was opaque, or notifications and sensory stimuli were excessive The findings may inform rehabilitation and inclusive design by outlining possible mechanisms linking features-such as reminders, permissions, feedback, and adjustable sensory profiles-to processes of choice, regulation, and confidence valued by autistic adults. Promoting agency-centred design: The findings suggest that assistive technologies could be designed to better support user authorship and control. This means simplified, choice-protective interfaces; easy refusal; and reversible settings that the person can adjust without penalty. By protecting attention and making preferences, designs can strengthen day-to-day autonomy and confidence for autistic adults.Strengthening caregiver-mediated support—without displacing control: Supporters are crucial at onboarding and troubleshooting, but their role should be to co-configure and then fade assistance so everyday use remains self-directed. Brief, repeatable training for caregivers should combine operational skills (setup, updates) with strategies that respect boundaries (no unilateral changes, shared logs of edits).Designing consent-by-default and privacy: Event-based sharing (e.g., check-ins, “share now”), granular permissions, and clear audit trails help align safety with autonomy. Minimising continuous tracking and making revocation obvious preserves trust and a chosen sense of interdependence.Building sensory-aware, low-load interfaces: Adjustable notification profiles (timing, channel, intensity), predictable haptics, and low-stimulus visual themes reduce overload and sustain independent use. Small icon sets and uncluttered screens support faster, more confident action.Integrating advanced technologies for practice and self-regulation: Artificial Intelligence-powered assistants and reminders can scaffold planning, pacing, and adaptive replanning; wearables can surface timely self-care cues; augmentative and alternative communication can streamline preference expression and boundary setting; and virtual/augmented reality can offer graded, low-pressure environments to rehearse skills before real-world execution. Ensuring cognitive and ergonomic adaptations across these tools maximises usability and benefit. eng.
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4. Bress KS, Quinde-Zilbut J, Zoltowski AR, Convery CA, Lewis B, Rogers BP, Vandekar S, Travers B, Cascio CJ. A sensorimotor basis for facial expressivity differences in autism. Imaging Neurosci (Camb). 2025; 3.
In autism, differences in the appearance, timing, and intensity of facial expressions are a major barrier to social communication. While disrupted sensorimotor feedback has been proposed as a potential contributing factor, the neural pathways linking sensory input to facial motor control are poorly understood even in the general population. In this study, we provide novel characterization of resting-state functional connectivity (rs-FC) between the facial regions of the primary somatosensory (S1) and motor (M1) cortices in both nonautistic and autistic individuals. We identify that rs-FC is somatotopically patterned for the lower but not upper face in both groups, mirroring known anatomical differences in corticomotor inputs to the upper versus lower face musculature. We independently replicate this patterning in a large, open-source neuroimaging dataset. Critically, we demonstrate that upper face actions are selectively diminished in autism, and that the relationship between sensorimotor connectivity and facial behavior diverges between autistic and nonautistic individuals. These findings offer the first direct evidence of a sensorimotor basis for altered facial expressivity in autism, challenging long-held assumptions about the underlying mechanisms of this communication barrier and pointing toward new targets for therapeutic intervention.
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5. Bruschetta R, Famà FI, Spadaro L, Leonardi E, Carrozza C, Aiello S, Campisi A, Mastrogiuseppe M, Campisi S, Chakrabarti B, Ruta L, Pioggia G, Gaetano A, Borri A, Tartarisco G. Modeling gaze behavior with continuous-time markov chains to investigate social attention dynamics in autism. Sci Rep. 2025; 15(1): 39692.
This study introduces a novel methodological framework combining continuous-time Markov chains and principal component analysis (PCA) to model and investigate gaze behavior in young children observing naturalistic social interactions. By quantifying transition propensities between areas of interest (AOIs), this approach enables a dynamic, data-driven analysis of gaze patterns beyond static fixation metrics. We applied this framework to eye-tracking data from children with autism spectrum condition (ASC) and neurotypical (NT) peers as they watched scenes of a child and an adult engaged in interactive play, involving turn-taking and reciprocal imitation. The stimuli, designed to ensure ecological validity, depicted sensory social routines (SSRs) with songs and shared play with musical instruments, allowing exploration of gaze dynamics in both dyadic and triadic social contexts. Results revealed distinct gaze transition profiles in ASC children, characterized by more frequent disengagement from socially salient AOIs and reduced re-orientation to faces following non-social fixations. In contrast, NT children exhibited frequent gaze alternation between faces and triangulation with objects, supporting joint attention and reciprocal engagement. Additionally, ASC participants were more likely to enter and persist in non-social states, especially during object-centered trials, whereas NT peers showed consistent transitions toward socially meaningful targets. These findings highlight the relevance of capturing the temporal patterns of visual engagement in autism, revealing how moment-to-moment gaze transition dynamics reflect underlying differences in social motivation, attentional control, and sensory processing. The proposed framework provides a powerful tool for characterizing individual differences in gaze organization and holds promise for advancing biomarker identification in neurodevelopmental research. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1038/s41598-025-23366-4.
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6. Di Benedetto G, Sorge G, Sarchiapone M, Di Martino L. Dietary Patterns, Not Gut Microbiome Composition, Are Associated with Behavioral Challenges in Children with Autism: An Observational Study. Nutrients. 2025; 17(21).
Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent social communication difficulties and restricted, repetitive behaviors, with prevalence estimates continuing to rise worldwide. The gut-brain axis has been proposed as a potential contributor to ASD, yet human studies yield inconsistent findings, partly due to confounding effects of diet and behavior. Methods: Here, we investigated the gut bacteriome and mycobiome of children with ASD (n = 17) compared with their non-ASD siblings (n = 9) and parents without ASD (n = 27), alongside detailed assessment of dietary intake (n = 79) using 7-day food diaries. Results: Multi-kingdom microbiome profiling revealed no significant differences in α- or β- diversity across ASD, sibling, and parental groups, with only minor taxonomic variation observed. Similarly, fungal community composition showed negligible group-level differences. By contrast, dietary patterns strongly differentiated ASD from non-ASD participants: children with ASD consumed higher levels of sweets and sugary foods, lower portions of vegetables, and exhibited reduced overall dietary diversity. Statistical analyses confirmed that dietary factors, rather than microbial composition, explained variation in ASD diagnosis. Conclusions: These findings suggest that selective and repetitive eating behaviors are characteristic of ASD shape dietary intake, which in turn influences gut microbial diversity. Thus, in humans, the directionality may run primarily from behavior to diet to microbiome, rather than from microbiome to behavior. Our results underscore the importance of incorporating dietary variables into microbiome research and highlight the need for targeted nutritional interventions to improve health outcomes in individuals with ASD.
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7. Gullapalli S, Baldado L, Szobody MW, Murambadoro AK, Valdez KG, Bellamkonda A, Gonzalez D, Ghumman U, Anand N, Potter-Baker K, Gadad BS. From molecules to models: A holistic review of autism spectrum disorder mechanisms and research tools. Neurobiol Dis. 2025; 217: 107187.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. These features are associated with atypical early brain development and connectivity. While ASD has been traditionally associated with molecular genetic alterations, recent research highlights the significant contribution of various environmental factors to the pathophysiology of the disorder. Pathogenic genetic variations in key regulatory genes remain central to ASD risk; however, environmental influences such as advanced maternal or paternal age, poor maternal health during pregnancy, gestational diabetes mellitus, alterations in the early-life gut microbiome, and other perinatal or early childhood environmental exposures have all been associated with an increased likelihood of developing ASD. This review synthesizes recent advances in our understanding of ASD by providing a comprehensive analysis of the disorder’s diverse pathophysiological mechanisms from multiple perspectives. Specifically, this paper discusses neurophysiological, behavioral, and post-mortem findings, and explores the utility of widely used animal models in ASD research. Particular attention is given to dysregulation of key metabolic pathways and the role of the gut-brain axis in ASD. The review also evaluates both established and emerging pharmacotherapeutic approaches, highlighting significant cellular, histological, and behavioral alterations associated with ASD. Collectively, these insights provide a foundation for developing novel tools to understand the molecular pathways of these genes and its implication of novel therapeutic opportunities for individuals with ASD.
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8. Gumus M, Teklu SW. Dynamics of a novel fractional-order model for autism spectrum disorder perspective propagation with optimal control. Sci Rep. 2025; 15(1): 39768.
This study addresses the propagation of negative societal perspectives toward Autism Spectrum Disorder (ASD) through a novel fractional-order mathematical model that captures the critical memory effect in individuals’ attitude formation, where historical experiences continuously shape current perceptions. By analyzing intervention strategies combining media awareness campaigns and therapeutic programs, we demonstrate that fractional calculus reveals significantly slower attitude transitions (30-50 percent reduction in rate) compared to classical models, with therapeutic interventions proving three times more effective than media campaigns alone in rehabilitating negative perspectives of individuals. Our optimal control problem identifies a strategy that achieves a 75 percent reduction in negative perspectives, while cost-effectiveness analysis confirms the economic viability of the proposed combined approaches. These findings suggest that integrated interventions utilizing both media and therapy control measures yield the most efficient path to mitigating negative perspectives towards Autism Spectrum Disorder, with fractional-order modeling providing essential insights into the persistent nature of social attitudes that traditional integer-order models cannot capture.
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9. Hauck S, de Oliveira LT. Beyond overdiagnosis: reframing autism prevalence through a neurodivergent phenotype lens. J Pediatr (Rio J). 2025; 101(6): 101467.
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10. He J, Liao S, Luo B, Huang Y. Associations between maternal lipid metabolism and immune characteristics in children with autism spectrum disorder. Psychiatry Res. 2025; 355: 116833.
BACKGROUND: Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder potentially associated with maternal obesity, which may increase ASD risk by disrupting fetal immune-inflammatory and nervous system development through chronic low-grade inflammation. However, their transgenerational associations remain largely unexplored, leaving a significant research gap. OBJECTIVE: This study investigates the potential transgenerational associations between maternal lipid metabolism and the immune-inflammatory profiles of children with ASD, as compared to typically developing (TD) children. METHODS: This retrospective correlational study utilized data extracted from the Hospital Information System (HIS). A total of 118 mother-child pairs with children diagnosed with ASD and 113 TD pairs were included. The associations between maternal metabolic and children’s immune-inflammatory indices were analyzed using canonical correlation analysis (CCA). RESULTS: A significant positive correlation was observed between maternal lipid metabolism and children’s immune-inflammatory variables in ASD pairs, with the first pair of canonical variables r = 0.414 (p < 0.05). Maternal triglyceride levels and children's white blood cell counts were the key contributors to the interaction, with canonical loadings and cross-loadings of -0.979 and -0.405 for triglycerides, and -0.983 and -0.407 for white blood cell count, respectively. In contrast, no significant canonical correlations were detected in the TD group (largest r = 0.337, p = 0.122). CONCLUSION: This finding supports the transgenerational aspects of the development of ASD by preliminarily revealing associations between maternal lipid metabolism and children's immune-inflammatory indicators. Importantly, these associations were observed in ASD pairs but not in TD pairs, suggesting a potential specificity to ASD.
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11. Hu X, Huang J, Ku B, Sean H, Li C. Bridging the intention-behavior gap: The role of action planning in parental support for physical activity in children and adolescents with autism spectrum disorder. Res Dev Disabil. 2025; 167: 105161.
BACKGROUND: Parental support constitutes a critical determinant of physical activity (PA) engagement in children and adolescents with autism spectrum disorder (ASD), yet its predictors remain understudied. Grounded in an extended Theory of Planned Behavior (TPB) framework, this study examines the sequential relationships between parental support intention, parental action planning, parental support, and PA in this population. METHODS: A cross-sectional survey was conducted with 164 parents/caregivers of children and adolescents with ASD in China. The parents/caregivers completed a survey form measuring key TPB constructs of interest. RESULTS: Only 18.3 % of children and adolescents with ASD met the WHO’s recommended guideline of at least 60 min of daily PA. Path analysis revealed that parental support intentions directly predicted parental action planning (β = 0.52) and parental support (β = 0.34), while action planning mediated the intention-behavior relationship. Further, parental support mediated the intention-PA association (β = 0.41) and served as the critical pathway linking intention to children’s PA through a chain mediation model (support intention → action planning → parental support → PA). CONCLUSION: The extended TPB model elucidates the mechanisms underlying parental support for children and adolescents with ASD. These findings underscore the necessity to strengthen parental intentions, develop actionable plans, and implement integrated support strategies for promoting PA in this population.
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12. Jia B, Shen Z, Zhu S, Huang J, Liao Z, Zhao S, Li H, Chen S, Xu Y, Wang Y, Peng H, Bai G, Lu Y, Tong P, Tao W, Zhang M. Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity. Cell. 2025; 188(23): 6473-91.e21.
Cells contain numerous types of membraneless organelles or biological condensates formed via phase separation. Cellular biological condensates have broad material properties ranging from Newtonian fluids to elastic solids. How the material property of a biological condensate is regulated for cellular functions is poorly understood. Here, we discovered that, like native postsynaptic densities (PSDs), the reconstituted PSD condensate forms a soft glass material without signs of irreversible amyloid structure formation. Such glass-like PSD condensate formation is based on percolation of the PSD protein network via specific and multivalent interactions among scaffold proteins. Disruption of Shank3 SAM domain-mediated oligomerization, one type of SHANK3 mutation observed in Phelan-McDermid syndrome patients, softened the PSD condensate by weakening its network percolation, impaired synaptic transmission and plasticity, and caused autistic-like behavior in mice. Thus, our study suggests that the material properties of the PSD condensate are critical for learning and memory mediated by neuronal synapses.
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13. Karhson DS, LaFrance EM, Cuttler C. Acute effects of cannabis on core and co-occurring features associated with autism spectrum disorder in adults. Sci Rep. 2025; 15(1): 39849.
Pharmacological interventions that treat core and co-occurring features of autism spectrum disorder (ASD) are a persistent unmet need. As such, use of cannabis to manage ASD features is common in the autistic community. Yet, few studies have examined the acute effects of cannabis on symptoms associated with ASD. Therefore, we measured changes in symptom ratings from before to after cannabis use in a sample of 111 self-identified autistic adults. Anonymized archival data sourced from the Strainprint(®) app were analyzed. A subset of tracked information that reflected changes in core and co-occurring symptoms associated with ASD (i.e., Sensory Sensitivity, Repetitive Behaviors, Mental Control, and Negative Affect) were used to assess the impacts of cannabis on symptom severity. Overall, symptom severity ratings were reduced by 73.09% from before to after cannabis use. More severe symptoms were associated with greater reductions in severity ratings after use. Higher doses predicted greater reductions in severity of Repetitive Behaviors, Mental Control, and Negative Affect but dose of cannabis used to manage all symptoms remained static across time. Results from this first empirical examination of the perceived acute effects of cannabis in autistic adults suggest that cannabis provides temporary relief from symptoms associated with ASD.
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14. Khamees H, Gulati A, Vatsa A, Aldosari M, Hoque E. Estimating autism prevalence among children in the Kingdom of Saudi Arabia: A comprehensive multisource benchmarking approach. Saudi Med J. 2025; 46(11): 1276-9.
OBJECTIVES: To provide an accurate estimate of autism spectrum disorder (ASD) prevalence among children in the Kingdom of Saudi Arabia (KSA) by benchmarking against international and regional data, addressing the limitations of the currently reported prevalence rate of 0.6%. METHODS: We conducted a comparative benchmarking analysis using ASD prevalence data from countries with advanced monitoring systems (United Kingdom, United States, Denmark, South Korea, Italy, Singapore) and regional comparators (United Arab Emirates, Qatar, Jordan). We assessed differences in healthcare infrastructure, diagnostic frameworks, and screening intensity, and reviewed recent KSA-based studies. Methodological limitations such as underreporting, cultural stigma, and diagnostic inconsistencies were also considered. RESULTS: The official General Authority for Statistics estimate of 0.6% underrepresents the actual prevalence of ASD in KSA. International benchmarks suggest higher prevalence, with the UK at 1.8%, the US at 3.2%, and South Korea at 2.6%. Regional studies in Qatar and the UAE show rates of 1.1% and 0.6%, respectively. KSA-specific studies report prevalence ranging from 1.3% (systematic review and meta-analysis across 24,000 children) to 2.5% (hospital-based screening in Riyadh). Integrating these findings, we estimate that the realistic prevalence in KSA lies between 1.7% and 1.8%. CONCLUSION: The prevalence of ASD among children in KSA is substantially higher than the official estimate of 0.6%. A calibrated range of 1.7% to 1.8% better reflects the true prevalence and provides a foundation for evidence-based public health planning, early screening initiatives, and resource allocation for autism services in KSA.
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15. Kim GS, Chandio BQ, Benavidez SM, Feng Y, Thompson PM, Lawrence KE. Mapping along-tract commissural and association white matter microstructural differences in autistic children and young adults. Cereb Cortex. 2025; 35(11).
Previous diffusion magnetic resonance imaging (dMRI) research has indicated altered white matter microstructure in autism, but the implicated regions are inconsistent across studies. Such prior work has largely used conventional dMRI analysis methods, including the traditional microstructure model, diffusion tensor imaging (DTI). However, these methods are limited in their ability to precisely map microstructural differences and accurately resolve complex fiber configurations. In our study, we investigated white matter microstructure alterations in autism using the refined along-tract analytic approach, BUndle ANalytics (BUAN), with both an advanced microstructure model, the tensor distribution function (TDF) and DTI. We analyzed dMRI data from 365 autistic and neurotypical participants (5 to 24 yr; 34% female) from 10 cohorts to examine commissural and association tracts. Autism was associated with lower fractional anisotropy and higher diffusivity in localized portions of nearly every commissural and association tract examined; these tracts inter-connected a wide range of brain regions, including frontal, temporal, parietal, and occipital regions. Taken together, BUAN and TDF allow robust and spatially precise mapping of microstructural properties in autism. Our findings rigorously demonstrate that white matter microstructure alterations in autism may be greater within specific regions of individual tracts, and that the implicated tracts are distributed across the brain.
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16. Kong H, Xie J, Dou F, Li X, Wang X, Huang Y. « I feel bad about myself »: mediating roles of social camouflaging, self-concept clarity, and self-disgust between autistic traits and depressive symptoms. Psychol Health Med. 2025: 1-18.
Autistic traits are frequently associated with depressive symptoms. However, the underlying mechanisms involved in this association still need further examination. The present study explored chain mediation pathways, examining the impact of camouflaging autistic traits on the self and its subsequent influence on depressive symptoms. According to the diathesis-stress models, the dynamic interactionist model of vulnerability, the dual vulnerability model, the disconnect theory, and the unified model of depression, the present study examined two potential chain mediation pathways (i.e. social camouflaging – self-concept clarity and social camouflaging – self-disgust) of the association between autistic traits and depressive symptoms. Four hundred sixty-three undergraduate and graduate students completed an online survey measuring autistic traits, depressive symptoms, social camouflaging, self-concept clarity, and self-disgust. Autistic traits were directly and indirectly associated with increased depressive symptoms in the general population. Specifically, autistic traits were related to depressive symptoms through the chain mediation pathways of social camouflaging to self-concept clarity and social camouflaging to self-disgust. The results demonstrate the relationship between autistic traits and depressive symptoms when individuals engage in social camouflaging, particularly focusing on self-aspects (i.e. self-concept clarity and self-disgust). These findings underscore the complexities of mental health challenges associated with camouflaging autistic traits and highlight the importance of considering self-factors as critical intervention points for depressive symptoms.
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17. Lakhani A, Abdel-Rasoul M, Williams K, Maltz R. Clinical characteristics and 1-year outcomes of patients with autism spectrum disorder and inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2025.
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18. Lam GYH, Lam TWK, Tang O, Yeung G, Chan SW. « From the autistic human books’ stories, I understand their mindset and thoughts »: Pilot development and participatory realist evaluation of Human Library to enhance public understanding of autism. Autism. 2025: 13623613251377949.
Unlike traditional autism awareness programs that often rely on didactic teaching and factual information, Human Library is a contact-based intervention that can engage « readers » in critical dialogs with « human books » to learn about their lived experience. This study reported on the pilot development of a Human Library in collaboration with a team of human books who are autistic to promote public understanding of autism in Hong Kong. Using a participatory realist evaluation framework, we conducted surveys and interviews with readers to construct a Human Library program model and evaluate its associated outcomes. Pre- and post-Human Library surveys showed a significant decrease in autism stigma and increase in neurodiversity attitudes. Interview findings revealed that readers’ interests and concerns about the autistic community motivated them to participate in Human Library. Through personal interaction with autistic human books in a safe space created within Human Library, readers developed renewed understanding of autism and insights into autistic strengths. Readers became more informed of autistic people’s perspectives and various sociocultural barriers that impact their well-being, which shaped how they would interact with autistic people in the community. The Human Library model has implications for promoting better understanding and attitudes of autism and fostering positive interaction between autistic and non-autistic people.Lay AbstractThere is a need to promote autism awareness and understanding in the public. Traditional methods often include direct teaching and sharing of facts about autism, but more creative and effective approaches are needed. Human Library (HL) works like an actual library, except that « books » are human beings who can share their lives and stories. This study developed and evaluated a Human Library specifically with autistic books to promote public understanding of autism in Hong Kong. We conducted surveys and interviews with the participating readers to understand how the Human Library works and its effects. After Human Library, readers reported decreased autism stigma and increased neurodiversity attitudes. Readers showed different understanding of autism contrary to their previous impressions. They appreciated more the strengths and perspectives of autistic individuals. They also considered more the autistic perspective when interacting with autistic people. Human Library can be an effective program to promote better understanding and attitudes of autism in the public.
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19. Liu H, Liu G, Zhang Y, Suo W, Hao Y, Wang Y, Ding H. Bifidobacterium adolescentis DM8504 Alleviates Autistic-Like Behaviors in Valproic Acid-Exposed Rats Through Gut Microbiota Modulation and SCFA Restoration. Neuropsychiatr Dis Treat. 2025; 21: 2449-63.
OBJECTIVE: Compelling evidence has confirmed that gut microbiota dysbiosis is involved in the development of autism spectrum disorder (ASD). Microbial-based therapies, including probiotics, may provide novel options for ASD management. This study aimed to investigate the alleviative effect of a probiotic strain, Bifidobacterium adolescentis (B. adolescentis) DM8504, on autistic-like behaviors in rats exposed to valproic acid (VPA). METHODS: Male offspring of VPA-exposed pregnant Sprague-Dawley rats treated with B. adolescentis DM8504 were subjected to behavioral tests. Fecal short-chain fatty acids (SCFAs) and microbiota composition were determined by targeted metabolomics and 16S rRNA gene sequencing, respectively. Microbial functional profiles were analyzed using the KEGG and COG pathway analyses. RESULTS: B. adolescentis DM8504 alleviated autistic-like behaviors in VPA-exposed rats, as evidenced by enhanced locomotor activity, exploratory behavior, sociability, spatial working memory, and depression relief. B. adolescentis DM8504 treatment significantly enhanced the fecal levels of acetic acid, butyric acid, isobutyric acid, propionic acid, and hexanoic acid, and restored the diversity of gut microbiota composition in VPA-exposed rats. Specifically, B. adolescentis DM8504 increased the abundance of gut bacterial species capable of producing SCFAs in VPA-exposed rats, including Bifidobacterium, Faecalibacterium, Eubacterium, and Lachnospiraceae_ NK4A136_group. In addition, microbial functional profile analysis showed that B. adolescentis DM8504 administration reversed the alterations in COG and KEGG pathways induced by VPA exposure. CONCLUSION: These findings reveal that B. adolescentis DM8504 alleviates autistic-like behaviors in VPA-exposed rats through restoration of SCFA levels and enrichment of SCFA-producing bacteria, which indicate that well-defined B. adolescentis strains may have potential for the management of children with ASD in the future.
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20. MacDuffie KE, Washington AM, Burrows CA, Dager SR, Elison JT, Estes AM, Grzadzinski R, Lee CM, Piven J, Shen MD, Wilfond BS, Wolff J, Zwaigenbaum L, Pruett JR, Jr. Anticipation of a therapeutic odyssey following predictive testing for autism. Sci Rep. 2025; 15(1): 39608.
Brain-based tools are being developed to identify infants at ultra-high likelihood for developing autism and enable presymptomatic intervention, though such interventions are not yet clinically available. Given persistent challenges in accessing autism services, we sought to understand how families might use early predictive results to seek support. We analyzed 55 interviews with parents of infants aged 6-13 months; one group had experience parenting an older autistic child (n = 30), the other had no prior autism parenting experience (n = 25). All parents were asked what steps they would take if told their infant was likely to develop autism. Both groups described an intent to find appropriate services; parents with prior autism experience provided more specifics based on prior knowledge. The groups diverged in their anticipated supports and information sources. Parents with autism experience anticipated seeking financial support via insurance and disability benefits; those without autism experience reported they would consult their pediatrician for information or search online. This qualitative study was conducted with a sample of parents selected for their specific life experiences, but likely does not capture the full range of potential responses to biomarker testing in infancy. Given that most services and benefits require a formal diagnosis, families receiving predictive results in infancy will likely face challenges finding appropriate services. Prior to implementing predictive testing in the first year of life, researchers should consider their obligation to support families who receive predictive results.
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21. Mitchell KJ, Dahly DL, Bishop DVM. Conceptual and methodological flaws undermine claims of a link between the gut microbiome and autism. Neuron. 2025.
The idea that the gut microbiome causally contributes to autism has gained currency in the scientific literature and popular press. Support for this hypothesis comes from three lines of evidence: human observational studies, preclinical experiments in mice, and human clinical trials. We critically assessed this literature and found that it is beset by conceptual and methodological flaws and limitations that undermine claims that the gut microbiome is causally involved in the etiology or pathophysiology of autism.
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22. Molina Calistro L, Arancibia Y, Alarcón J, Torres RF. The Ca(2+) Bridge: From Neurons to Circuits in Rett Syndrome. Int J Mol Sci. 2025; 26(21).
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused primarily by mutations in the gene encoding the methyl-CpG-binding protein 2 (Mecp2). Mecp2 binds to methylated cytosines, playing a crucial role in chromatin organization and transcriptional regulation. At the neurobiological level, RTT is characterized by dendritic spine dysgenesis and altered excitation-inhibition balance, drawing attention to the mechanisms that scale from mutations in a nuclear protein to altered neuronal connectivity. Although Mecp2 dysfunction disrupts multiple neuronal processes, emerging evidence highlights altered calcium (Ca(2+)) signaling as a central contributor to RTT pathophysiology. This review explores the link between Mecp2 and Ca(2+) regulation by highlighting how Mecp2 affects Ca(2+)-dependent transcriptional pathways, while Ca(2+) modulates Mecp2 function by inducing post-translational modifications. We discuss this crosstalk in light of evidence from RTT models, with a particular focus on the brain-derived neurotrophic factor BDNF-miR132-Mecp2 axis and the dysregulation of ryanodine receptors (RyRs). Additionally, we examine how these perturbations contribute to the reduced structural plasticity and the altered activity-driven gene expression that characterizes RTT. Understanding the intersection between Mecp2 function and Ca(2+) homeostasis will provide critical insights into RTT pathogenesis and potential therapeutic targets aimed at restoring neuronal connectivity.
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23. Navarro L, Mallah NEZ, Nowak W, Pardo-Seco J, Gómez-Carballa A, Pischedda S, Martinón-Torres F, Salas A. The effect of music interventions in autism spectrum disorder: a systematic review and meta-analysis. Front Integr Neurosci. 2025; 19: 1673618.
INTRODUCTION: Several disciplines have explored the relationship between autism spectrum disorder (ASD) and music, though most insights derive from cognitive sciences. This systematic review and meta-analysis synthesize evidence on the therapeutic effects of music-based interventions (MI) on communication, behavior, social engagement, attention, and quality of life in autistic individuals. It also examines how participants perceive and process music, situating therapeutic findings within this perceptual framework. METHODS: From a total of 346 publications screened in PubMed, Cochrane Library, and WILEY Online Library databases, 120 were included, of which 15 met the criteria for quantitative evaluation and meta-analysis, to assess the state- of-the-art of research on music and autism in the fields of neuropsychology and cognitive sciences. The reviewed studies span a range of methodologies, including randomized controlled trials and qualitative research, and incorporate diverse MI strategies, such as active music-making, structured listening, and improvisational techniques. RESULTS: Despite methodological heterogeneity, the findings suggest a moderate overall beneficial effect of MI, particularly in enhancing social interaction (z = 1.89, p-value = 0.06), verbal communication-especially vowel articulation (z = 2.93, p-value = 0.01), behavior (z = 1.92, p-value = 0.06; after outlier removal), and quality of life (z = 1.67, p-value = 0.09). DISCUSSION: This study highlights music’s potential as a non-invasive, engaging therapeutic medium that elicits emotional, cognitive, and social responses in individuals on the spectrum. Given evidence of context-sensitive and domain-specific strengths in musical abilities, music emerges as a promising therapeutic approach. Future studies should investigate individual variability in response to MI, aim to standardize outcome measures, and assess long-term effects. Such efforts will support more personalized, neurodiversity-affirming therapeutic models in autism care.
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24. Nuraini N, Appling C, Ferguson BJ, Singh A, Gunn AM, Bhat R, Schraml F, Braden BB, Beversdorf DQ. A Preliminary Investigation of Dopamine Transporter Binding Abnormalities in Individuals With Autism Spectrum Disorder. Autism Res. 2025.
In the emerging literature on aging and autism, a consistently replicated finding is a significantly increased risk for Parkinson’s disease (PD), up to six times higher. Also, atypical dopamine activity has been observed in autistic individuals and animal models. The only FDA-approved medications for ASD are the atypical antipsychotic medications, which inhibit postsynaptic dopaminergic and serotonergic transmission to treat irritability. Studies using resting state functional magnetic resonance imaging (rsfMRI) show disruption in striatal circuits in ASD. However, no studies have examined the striatal PD biomarker with dopamine transporter (DaT) single photon emission computed tomography (SPECT) imaging in adults with ASD. In this pilot study, we aimed to evaluate DaT SPECT in 18-24-year-old individuals with ASD and perform a pilot investigation of functional connectivity (FC) between the striatum and other brain areas. Four of the 12 participants had definite abnormalities or possible abnormalities in striatal DaT uptake. Participants were then separated into abnormal and normal DaT groups. In the exploratory analysis, the abnormal DaT group showed greater striatal FC to the paracingulate region compared with the normal DaT group. These pilot findings should be cautiously interpreted. Larger studies are needed to explore their link to behavioral outcomes and potential in predicting treatment responses. Examining how these findings evolve with age is also crucial, given evidence of the heightened risk of PD in ASD. Recent research suggests that individuals with autism may have a higher risk of developing Parkinson’s disease (PD), potentially linked to abnormal dopamine activity in the brain. This pilot study found that some autistic young adults had regional abnormalities in dopamine transporter (DaT) binding. This highlights the need for further studies on how these findings relate to autism symptoms, response to medications, and aging. eng.
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25. O’Grady C. Idea that gut microbes contribute to autism draws fire. Science. 2025; 390(6774): 665-6.
Amid growing investments in the field, a new paper argues it rests on shaky foundations.
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26. Osredkar J, Fabjan T, Kumer K, Jekovec-Vrhovšek M, Giebułtowicz J, Bobrowska-Korczak B, Avguštin G, Godnov U. Urinary Uremic Toxin Signatures and the Metabolic Index of Gut Dysfunction (MIGD) in Autism Spectrum Disorder: A Stool-Phenotype-Stratified Analysis. Int J Mol Sci. 2025; 26(21).
Gut-derived uremic toxins may play a key role in neurodevelopmental conditions such as autism spectrum disorder (ASD) via host-microbe metabolic interactions. We evaluated five uremic toxins-p-cresyl sulfate (PCS), indoxyl sulfate (IS), trimethylamine N-oxide (TMAO), asymmetric dimethylarginine (ADMA), and symmetric dimethylarginine (SDMA)-in urine samples of 97 children with ASD and 71 neurotypical controls, stratified by Bristol Stool Chart (BSC) consistency types. Four of these toxins (PCS, IS, TMAO, ADMA) were integrated into a novel composite biomarker called the Metabolic Index of Gut Dysfunction (MIGD), while SDMA was measured as a complementary renal function marker. While individual metabolite levels showed no statistically significant differences, group-wise analysis by stool phenotype revealed distinct trends. ASD children with hard stools (BSC 1-2) showed elevated PCS levels and the MIGD score (median 555.3), reflecting phenolic fermentation dominance with reduced indolic detoxification. In contrast, children with loose stools (BSC 6-7) had the lowest MIGD values (median 109.8), driven by higher IS and lower ADMA concentrations, suggestive of enhanced indole metabolism. These findings indicate that MIGD may serve as a novel biomarker to stratify metabolic phenotypes in ASD, linking urinary metabolite patterns to gut function. Further validation in larger and longitudinal cohorts is warranted to confirm its potential utility in precision microbiota-targeted interventions.
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27. Osredkar J, Kumer K, Jekovec Vrhovšek M, Čuturić L, France Štiglic A, Fabjan T. Urinary Porphyrin Profiles and Trace Element Imbalances in Children with Autism Spectrum Disorders: Insights into Environmental and Metabolic Biomarkers. Int J Mol Sci. 2025; 26(21).
Porphyrins are intermediates in heme biosynthesis and have been proposed as biomarkers of metabolic dysfunction and environmental exposure in autism spectrum disorder (ASD). This study aimed to evaluate urinary porphyrin fractions and trace element ratios in children with ASD compared to neurotypical controls. Urinary porphyrins were quantified using high-performance liquid chromatography (HPLC), and trace elements were measured via inductively coupled plasma mass spectrometry (ICP-MS) normalized to urinary creatinine. Trace element ratios (e.g., Zn/Cu, Se/Pb) were calculated. Statistical comparisons were made using the Mann-Whitney U-test. Children with ASD showed significantly elevated urinary levels of coproporphyrin (median: 1.94 µg/g creatinine vs. 1.32 in controls; p = 0.02) and pentacarboxyporphyrin (0.86 vs. 0.57; p = 0.01), and reduced hexacarboxyporphyrin (0.12 vs. 0.23; p = 0.03). Lead (Pb) levels were significantly higher in ASD (median: 1.96 µg/g creatinine vs. 0.82; p = 0.004), while mercury (Hg) was not significantly different. Several trace element ratios differed significantly: Zn/Cu (ASD 41.9 vs. controls 49.1; p = 0.021), Se/Pb (12.9 vs. 25.7; p = 0.002), Cu/Se (0.49 vs. 0.38; p = 0.008), and Zn/Pb (19.5 vs. 44.8; p = 0.002). The Hg/Se ratio did not differ significantly.: Children with ASD demonstrate altered porphyrin profiles and trace element imbalances, including increased Pb and disrupted Zn/Cu and Se/Pb ratios, indicating oxidative stress and impaired detoxification. Combined assessment of porphyrins and trace element ratios may provide valuable non-invasive biomarkers for environmental and metabolic disturbances in ASD.
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28. Pettitt L, Satherley RM, Hale L. « No one was coming to save us »: an interpretative phenomenological analysis exploring the experience of parents supporting their autistic daughter through anorexia nervosa. J Eat Disord. 2025; 13(1): 264.
BACKGROUND: Caring for someone with anorexia nervosa is associated with high levels of carer burden and burnout, however, there is a lack of research into caring for individuals who have anorexia nervosa and are also autistic, despite high levels of co-occurrence. This study aimed to offer an in-depth exploration of experiences for this group of caregivers. METHODS: Semi-structured interviews were conducted with six parents with an autistic daughter who had experienced anorexia nervosa. Data was analysed using Interpretative Phenomenological Analysis which enabled in-depth exploration of carers’ lived experience. RESULTS: Three themes and seven sub-themes were identified. These explored the experience of eating disorders services as largely unprepared to work with dual diagnosis; the impact of their daughter being autistic on carers’ experience of anorexia nervosa treatment and recovery, with variation depending on several factors; the journey of parenting through anorexia nervosa, and changes to parenting as a result. CONCLUSIONS: This adds to our understanding of the lived experience of this group of carers, highlighting a need for early detection of autism spectrum conditions, enhanced staff understanding of autism spectrum conditions, tailored treatment, and specific carer support for this group. Parents of a young person who is autistic and also has anorexia nervosa face unique challenges because of the needs that come with both conditions. The study looked at the experience of parents supporting their autistic child through Anorexia Nervosa. Parents told us that eating disorders services did not feel prepared to meet their child’s needs. In response to this, many felt that they had to change or even stop treatments because they didn’t work well for their child. Parents also spoke about the impact this had on their own wellbeing and their family. They described how they often had to step into unexpected roles, such as advocating for their child with professionals. The findings suggest that treatment for anorexia nervosa may be more helpful if it included adaptations for autistic people, and that providing support for carers could make a big difference for both parents and their children. eng.
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29. Prynda M, Niemczyk W, Pawlik AA, Dawiec G, Dawiec M, Kazek B, Mazur M, Pschionko N, Skaba D, Emich-Widera E, Wiench R. Orthodontic Treatment Needs in Children with Autism Spectrum Disorder. J Clin Med. 2025; 14(21).
Background/Objectives: Autism spectrum disorder (ASD) is associated with a higher prevalence of oral health problems, including parafunctional habits and malocclusions, which may lead to increased orthodontic treatment needs. The objective of this study was to evaluate orthodontic disorders and treatment requirements in children with ASD compared to their neurotypical peers. Methods: A cross-sectional study was conducted on 148 children aged 3-12 years, including 74 children with ASD and 74 controls matched for age and sex. Data were collected via caregiver questionnaires and clinical dental examinations. Malocclusions and orthodontic treatment requirements were assessed using the Index of Orthodontic Treatment Need (IOTN), including both the Dental Health Component (DHC) and Aesthetic Component (AC). Statistical analyses included Mann-Whitney U tests, Student’s t-tests, and effect size calculations, with significance set at p ≤ 0.05. Results: Children with ASD exhibited significantly higher orthodontic treatment needs compared to controls, with elevated scores in both IOTN-DHC (p < 0.001) and IOTN-AC (p < 0.001). No significant differences were observed for the mean overjet or overbite between groups. Gender analysis revealed that boys with ASD had significantly higher scores in both IOTN-DHC and IOTN-AC, while girls with ASD differed from controls only in IOTN-AC. Conclusions: Children with ASD are at increased risk for orthodontic treatment, particularly for both health and aesthetic needs, with boys showing the most pronounced disparities. These findings highlight the importance of early orthodontic assessment and tailored preventive strategies in this population.
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30. Rakap S, Gulboy E, Bayrakdar U, Cure G, Besdere B, Aydin B. Assessing AI-Generated Autism Information for Healthcare Use: A Cross-Linguistic and Cross-Geographic Evaluation of ChatGPT, Gemini, and Copilot. Healthcare (Basel). 2025; 13(21).
Background/Objectives: Autism is one of the most prevalent neurodevelopmental conditions globally, and healthcare professionals including pediatricians, developmental specialists, and speech-language pathologists, play a central role in guiding families through diagnosis, treatment, and support. As caregivers increasingly turn to digital platforms for autism-related information, artificial intelligence (AI) tools such as ChatGPT, Gemini, and Microsoft Copilot are emerging as popular sources of guidance. However, little is known about the quality, readability, and reliability of information these tools provide. This study conducted a detailed comparative analysis of three widely used AI models within defined linguistic and geographic contexts to examine the quality of autism-related information they generate. Methods: Responses to 44 caregiver-focused questions spanning two key domains-foundational knowledge and practical supports-were evaluated across three countries (USA, England, and Türkiye) and two languages (English and Turkish). Responses were coded for accuracy, readability, actionability, language framing, and reference quality. Results: Results showed that ChatGPT generated the most accurate content but lacked reference transparency; Gemini produced the most actionable and well-referenced responses, particularly in Turkish; and Copilot used more accessible language but demonstrated lower overall accuracy. Across tools, responses often used medicalized language and exceeded recommended readability levels for health communication. Conclusions: These findings have critical implications for healthcare providers, who are increasingly tasked with helping families evaluate and navigate AI-generated information. This study offers practical recommendations for how providers can leverage the strengths and mitigate the limitations of AI tools when supporting families in autism care, especially across linguistic and cultural contexts.
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31. Rinaldi A, Benetti Mota HA, Rinaldi S, Fontani V. Targeted Endogenous Bioelectric Modulation in Autism Spectrum Disorder: Real-World Clinical Outcomes of the REAC BWO Neurodevelopment-Autism Protocol. J Clin Med. 2025; 14(21).
Background: Autism Spectrum Disorder (ASD) is characterized by atypical brain oscillatory dynamics and altered connectivity, impairing sensory integration, socio-communicative responsiveness, and behavioral regulation. Methods: Radio Electric Asymmetric Conveyer (REAC) technology delivers non-invasive neurobiological modulation through standardized, operator-independent protocols. The Brain Wave Optimization Neurodevelopment-Autism (BWO ND-A) protocol was designed to address oscillatory patterns frequently altered in ASD, aiming to promote network coherence and multidomain functional improvement. This retrospective pre-post single-arm study evaluated 39 children with ASD (31 males, 8 females; mean age 7.85 ± 2.90 years). All received one Neuro Postural Optimization (NPO) session to prime central nervous system adaptive capacity, followed by BWO ND-A (18 sessions, ~8 min each), administered 3-4 times daily over ~two weeks. The primary outcome was the Autism Treatment Evaluation Checklist (ATEC) total score; secondary outcomes were its four subscales. Results: Mean total ATEC decreased from 67.76 ± 16.11 to 56.25 ± 23.66 (mean change -11.51 ± 14.48; p < 0.0001; Cohen's dz = 0.78). Clinically meaningful improvement (≥8-point reduction) occurred in 59% of participants. In 10.3% of cases, caregiver ratings indicated an apparent worsening (≥8-point increase). However, no objective deterioration or adverse effects were observed. This pattern was most likely related to a transient phase of functional re-adaptation, during which emerging changes may initially be perceived by caregivers as worsening before stabilizing into improvement. Conclusions: While these findings suggest promising short-term real-world efficacy and safety, the absence of a control group, lack of objective neurophysiological measures, and no long-term follow-up limit causal inference. Future controlled studies with neurophysiological monitoring are needed to confirm the targeted neuromodulatory action and durability of effects.
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32. Robinson J, Allison C, Auyeung B, Clare ICH, Lombardo M, Nagra N, Baron-Cohen S. Investigating the role of three screening measures to support clinical decision-making in adult autism assessments. PLoS One. 2025; 20(11): e0333875.
Referrals for autism diagnostic assessments in adults are increasing, with demand creating long waiting lists. Rigorously evaluated screening tools could serve to identify who is most likely to receive an autism diagnosis and contribute to clinical decision-making. We retrospectively examined individuals attending a specialist diagnostic assessment service in the UK over four years (2011-2014). Complete data on three screening measures were available for N = 422 referrals. These were the Autism Spectrum Quotient (AQ), the Empathy Quotient (EQ) and the Childhood Autism Spectrum Test-Relatives’ Questionnaire (CAST-RQ). 89% (n = 376) received an autism diagnosis. Positive screens on all three measures had a 98.3% likelihood of receiving an autism diagnosis, confirming findings from an independent clinic sample. We also examined the AQ subscale scores to establish their association with diagnostic outcome. While all people accepted onto the diagnostic assessment pathway should be offered an assessment, people who meet all three cut-offs could be offered a briefer assessment given the high likelihood that an autism diagnosis will be confirmed. Such triaging may lead to more efficient use of clinic time allowing referred individuals to be seen more quickly.
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33. Singh J, Wilkins G, Manginas A, Chishti S, Fiori F, Sharma GD, Shetty J, Santosh P. A Systematic Review of Wearable Sensors in Rett Syndrome-What Physiological Markers Are Informative for Monitoring Disease States?. Sensors (Basel). 2025; 25(21).
Rett syndrome (RTT) presents with a wide range of symptoms spanning various clinical areas. Capturing symptom change as the disorder progresses is challenging. Wearable sensors offer a non-invasive and objective means of monitoring disease states in neurodevelopmental disorders. The goal of this study was to conduct a systematic literature review to critically appraise the literature on the use of wearable sensors in individuals with RTT. The PRISMA criteria were used to search four databases without time restriction and identified 226 records. After removing duplicates, the titles and abstracts of 184 records were screened, 147 were excluded, and 37 were assessed for eligibility. Ten (10) articles remained, and a further two were included after additional searching. In total, 12 articles were included in the final analysis. The sample size ranged from 7 to 47 subjects with an age range of 1 to 41 years. Different wearable biosensor devices were used across studies, with the Empatica E4 wearable device being most frequently used in 33% (4/12) of the studies. All the studies demonstrated a high methodological quality with a low risk of bias. Evidence from wearable sensors, combined with machine learning methods, enabled the prediction of different sleep patterns and clinical severity in RTT. Given the small sample size and the limitations of available data for training machine learning models, we highlight areas for consideration. The review emphasises the need to enhance research on the application of wearable sensors in epilepsy and gastrointestinal manifestations/morbidity in RTT. Increased electrodermal activity (EDA), % of maximum heart rate (HRmax%) and the heart rate to low-frequency power (HR/LF) ratio were identified as physiological measures potentially associated with disease states. Based on the evidence synthesis, the role of physiological parameters and their association with symptom management in RTT is discussed.
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34. Suhardita K, Dharmayanti PA, Dewa Ayu Eka Purba Dharma Tari I, Saputra R, Arizona A, Datuti S, Ulfah, Badriyah RDU, Soejanto LT, Ramadhani E, Padillah R. Enhancing peer connection in autism: Evaluating the impact of robot-mediated role-play hug interventions. Asian J Psychiatr. 2025; 115: 104772.
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35. Suominen E, Zahir R, Hampton S, Cooper K, Midouhas E, Flouri E, Saunders R, Mandy W. Sex differences in internalising problem trajectories of autistic and non-autistic youth across childhood and adolescence. J Affect Disord. 2025; 394(Pt B): 120678.
BACKGROUND: Autistic children and adolescents experience high rates of internalising problems such as anxiety and depression. In the general population, female children and adolescents typically show higher trajectories of internalising symptoms – but little is known about sex differences among autistic youth. This study examined sex differences in the developmental course of internalising symptoms among autistic and non-autistic youth across childhood and adolescence. METHODS: Participants included autistic (n = 573) and non-autistic (n = 15,945) individuals from the Millennium Cohort Study. Internalising symptoms were assessed via parent-report Strengths and Difficulties Questionnaire at six timepoints (ages 3-17). Latent Growth Curve Modelling (LGCM) was used to model trajectories, and growth factors were regressed onto autism diagnosis, sex, and their interaction. Additionally, separate LGCMs were fitted to autistic and non-autistic male and female groups to describe internalising trajectories. RESULTS: Autism diagnosis was associated with higher baseline internalising symptoms and steeper increases over time. Female sex was linked to steeper increases in internalising symptoms, despite slightly lower initial levels. The interaction between sex and autism diagnosis was not statistically significant, indicating no additional combined effect on trajectories. Overall, autistic youth had higher internalising trajectories than non-autistic youth, with group differences emerging earlier in males (age 7) than females (age 11). CONCLUSION: This study showed that that sex differences in developmental trajectories of internalising problems among autistic youth parallel those seen in the general population, but with increased severity.
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36. Takahashi M, Yako H, Suzuki A, Isa R, Miyamoto Y, Yamauchi J. The ErbB2-Dock7 Signaling Axis Mediates Excessive Cell Morphogenesis Induced by Autism Spectrum Disorder- and Intellectual Disability-Associated Sema5A p.Arg676Cys. Int J Mol Sci. 2025; 26(21).
Characterized by social communication deficits and the presence of restricted and repetitive behaviors, autism spectrum disorder (ASD) is a significant neurodevelopmental condition. Genetic studies have revealed a strong association between ASD and numerous mutations that alter the function of key proteins, either through activation or inactivation. These alterations are widely hypothesized to affect neuronal morphogenesis; however, a comprehensive understanding of the specific molecular cascades driving these cellular and symptomatic changes remains lacking. In this study, we report for the first time that signaling through the atypical Rho family guanine-nucleotide exchange factor (GEF) Dock7 and ErbB2, an activator acting upstream of Dock7, drives the excessive elongation of neuronal processes observed in association with the ASD- and intellectual disability (ID)-linked semaphorin-5A (Sema5A) Arg676Cys variant (p.Arg676Cys). Knockdown of Dock7 using short hairpin RNA or inhibition of ErbB2 kinase signaling with a specific chemical inhibitor reduced this excessive process elongation in primary cortical neurons. Similar results were obtained in the N1E-115 cell line, a neuronal cell model that undergoes neuronal morphological differentiation. Moreover, inhibition of ErbB2-Dock7 signaling specifically decreased the overactivation of the downstream molecules Rac1 and Cdc42. These findings indicate that the ErbB2-Dock7 signaling axis plays a role in mediating the aberrant neuronal morphology associated with the ASD- and ID-linked Sema5A p.Arg676Cys. Targeting this pathway may therefore offer a potential approach to addressing the molecular and cellular developmental challenges observed in ASD.
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37. Weinstock N, Wood J, DeBoy E, Testino A, Stafstrom C, Raymond G, Rajaprakash M, Vernon H. Maternal cobalamin deficiency causing infantile seizures and developmental regression. BMJ Case Rep. 2025; 18(11).
We report the case of an 11-month-old boy, presenting with 6 months of failure to thrive, progressive seizures, developmental regression and aversion to solid foods. He also developed systemic symptoms including oral mucocutaneous lesions, neutropenia and anaemia. Notable evaluations included an abnormal electroencephalogram and a thin corpus callosum. Initial diagnostic work-up for epileptic encephalopathy included rapid whole exome sequencing (WES) and metabolic studies. His propionylcarnitine, plasma homocysteine and methylmalonic acid were markedly elevated, with normal vitamin B12, raising concern for an inborn error of cobalamin metabolism or nutritional B12 deficiency. His WES was normal, with no pathogenic variants detected in genes affecting cobalamin metabolism. Maternal vitamin B12 was subsequently found to be undetectable, and the mother was found to have autoantibodies to intrinsic factor and was diagnosed with pernicious anaemia. The child was started on vitamin B12 repletion, resulting in complete correction of metabolic derangements and multimodal neurologic improvements.
