Molecular Autism最新文献

{"title":"Nitric oxide inhibition ameliorates cortical proteomic changes in the Cntnap2^-/- and Shank3^Δ4-22 mouse models of autism spectrum disorder.","authors":"Wisam Bazbaz, Maryam Kartawy, Igor Khaliulin, Haitham Amal","doi":"10.1186/s13229-026-00716-1","DOIUrl":"10.1186/s13229-026-00716-1","url":null,"abstract":"<p><p>BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component, and over a thousand associated genes have been identified, including CNTNAP2 and SHANK3. Our previous work using Cntnap2-/- and Shank3Δ4–22 ASD mouse models implicated dysregulated nitric oxide (NO) signaling in ASD-related behaviors, which were improved by inhibition of neuronal nitric oxide synthase (nNOS) with 7-Nitroindazole (7-NI). However, the molecular mechanisms linking NO signaling to ASD pathology remain poorly defined. METHODS: We performed mass spectrometry-based global proteomic profiling of cortical tissue from both mouse models under baseline conditions and following 7-NI treatment. Systems biology and bioinformatics analyses were used to identify differentially expressed proteins, enriched pathways, and treatment-responsive networks. Cross-model comparisons were performed to assess molecular convergence and overlap with human ASD-risk genes. Behavioral and biochemical assessments were reanalyzed to evaluate ASD-like phenotypes and treatment effects. RESULTS: Treatment with 7-NI improved ASD-like behavioral deficits in Cntnap2 and Shank3 mutant mice, including increased sociability and reduced anxiety-like behavior. 7-NI was also associated with attenuation of cortical protein alterations across synaptic, neuronal, and metabolic pathways, shifting subsets of dysregulated proteins toward wild-type expression levels. Despite distinct genetic mutations, the two models converged at the protein and pathway levels, including treatment-responsive proteins encoded by high-confidence human ASD risk genes. LIMITATIONS: Analyses were restricted to cortical tissue; additional brain regions may reveal complementary mechanisms. Mass spectrometry may underrepresent low-abundance proteins; larger sample sizes could improve statistical power. Potential off-target effects of 7-NI should also be considered. CONCLUSIONS: These findings show that nNOS inhibition improves ASD-like behaviors and is associated with partial normalization of altered cortical proteins across two genetically distinct ASD mouse models that display convergent molecular changes, including proteins encoded by high-confidence ASD risk genes.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Signposting Questionnaire for Autism-2 (SQ-A-2): using input from autistic adults to inform questionnaire development.","authors":"Lucy A Livingston, Susan R Leekam, Gareth Davies, Punit Shah, Olujolagbe Layinka, Sarah J Carrington, Catherine R G Jones","doi":"10.1186/s13229-026-00714-3","DOIUrl":"10.1186/s13229-026-00714-3","url":null,"abstract":"<p><p>BACKGROUND: Brief questionnaires help clinicians to identify people who may require in-depth assessment for Autism Spectrum Disorder (hereafter autism) and also facilitate research. However, many current questionnaires do not map onto the latest DSM-5 criteria for autism and were developed by researchers and/or clinicians, with limited input from autistic people. The Signposting Questionnaire for Autism (SQ-A) is a caregiver-report questionnaire for measuring autism signs in children, based on DSM-5 criteria. Here, we developed a revised lifespan version, the SQ-A-2, with input on wording from autistic adults. We tested the SQ-A-2 as a self-report measure in autistic and non-autistic adults, and assessed the impact of the adapted wording on both the psychometric properties and the acceptability of the measure. METHODS: The SQ-A, containing highly discriminating DSM-5 items from a valid clinical interview, was revised to form the 18-item SQ-A-2, with self- and informant-report options. Following input from a team of four autistic consultants and six autism professionals, item wording on the SQ-A-2 was adapted, thus forming Original and Adapted versions. Subsequently, a sample of autistic and non-autistic adults (N = 302), matched on age, sex, and general cognitive ability, completed both versions of the new SQ-A-2, as well as the widely-used 10-item Autism-Quotient (AQ-10). Autistic participants also rated their preferences for Original versus Adapted items, and provided qualitative responses for their reasoning. RESULTS: Overall, the self-report version of the SQ-A-2 demonstrated excellent internal reliability and convergent validity with the AQ-10, and autistic adults scored significantly higher than non-autistic adults. This group difference was greater for the Adapted compared to the Original version of the SQ-A-2, suggesting autistic consultation may facilitate the development of clinically-useful measures. Additionally, autistic participants preferred the wording of the Adapted versus Original items, both quantitatively and qualitatively. LIMITATIONS: Our findings may not generalise to autistic people with intellectual disability. Ethnicity data was not collected. CONCLUSIONS: The adapted version of the SQ-A-2 has the potential to be a valid, clinically useful questionnaire for measuring DSM-5 signs of autism across the lifespan. Our findings also highlight the utility of incorporating autistic input into measure development. Further psychometric testing of the SQ-A-2 in larger, more diverse samples, including the informant-report version, is now required.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13151257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel context-discrepancy assessment of impression management facets in autistic and non-autistic adults: an initial validation.","authors":"Wei Ai, Jennifer Xiaofan Yu, Benjamin Koshy Jacob, Meng-Chuan Lai","doi":"10.1186/s13229-026-00715-2","DOIUrl":"10.1186/s13229-026-00715-2","url":null,"abstract":"&lt;p&gt;&lt;p&gt;BACKGROUND: Some autistic people “camouflage” by modifying autistic characteristics in social situations. Operationalizations of camouflaging remain limited and inconsistent. Quantitative studies primarily use retrospective self-report questionnaires, constraining ecological precision and conceptual scope. Methodological limitations obscure knowledge about (1) how multi-faceted camouflaging behaviors and experiences, as part of general impression management (IM), differ between autistic and non-autistic people; and (2) how episodic IM vary by social demands and individual traits. METHODS: We developed a context-discrepancy assessment of camouflaging, conceptualized as a form of IM, in autistic and non-autistic adults. Forty-eight adults (23 autistic, 25 non-autistic) recorded video responses to two hypothetical scenarios with discrepant social evaluative pressure (i.e., job interview vs. video call with trusted other). Immediately after filming, participants rated facets of their IM experiences, including felt inauthenticity, behavioral monitoring extent, effort, and anxiety, and identified behavioral aspects that they particularly monitored. We analyzed IM experiential facet ratings using a 2 (diagnosis) by 2 (social demand) mixed-factorial ANOVA and open-ended data using summative content analysis. Pooled elastic-net regression explored associations between self-reported individual traits (including social coping, cognitive skills, expressivity, gender identity, and neurodivergent traits) and context-dependent discrepancies in IM experiential facet ratings. RESULTS: IM felt more effortful for all participants when social demands increased, but autistic adults experienced greater inauthenticity and behavioral monitoring extent when social demands elevated. Increased social demands also disproportionately heightened anxiety for autistic compared to non-autistic adults. Both groups monitored more behavioral aspects under higher social demands, but autistic adults especially increased their monitoring of nonverbal and idiosyncratic behaviors. Context-discrepancies in IM experiential facet ratings showed distinct associations with trait-level camouflaging use versus subjective self-monitoring and executive functioning abilities, as well as with autistic versus ADHD traits. LIMITATIONS: The video-mediated design may not capture the spontaneity of real-life IM. Findings warrant replication with larger, more diverse cohorts, with counter-balanced or randomized designs. Future research is needed for the current findings to generalize to autistic individuals across sexes and genders, communication and intellectual abilities, as well as ethnicities and cultures. CONCLUSIONS: This novel context-discrepancy assessment suggests that increased social-evaluative demands exacerbate the psychological tolls of IM for autistic compared to non-autistic adults. Autistic relative to non-autistic adults may particularly monitor nonverbal behaviors in such circum","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13081252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ADNP missense variant p.C687R disrupts chromatin regulation and GABAergic differentiation in Helsmoortel-Van der Aa syndrome.","authors":"Qi Chen, Xixi Liu, Mengnan Wu, Daijing Sun, Xingyu Ding, Mengling Zhou, Wenzhu Peng, Yan Cheng, Biqing Xue, Ning Tang, Gang Xu, Yilin Tai, Qiong Xu, Man Xiong, Yan Jiang","doi":"10.1186/s13229-026-00713-4","DOIUrl":"10.1186/s13229-026-00713-4","url":null,"abstract":"<p><p>BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is a critical regulator of neurodevelopment, and most pathogenic variants reported in Helsmoortel–Van der Aa syndrome (HVDAS) are truncating variants. In contrast, the functional consequences of ADNP missense variants remain largely unclear. We integrated an ADNP variant cohort in China with variants recorded in the NCBI ClinVar database, revealing a major gap in the interpretation of ADNP missense variants. METHODS: We investigated a rare de novo ADNP missense variant, p.C687R, predicted to disrupt the ninth zinc finger domain. In vitro, p.C687R was overexpressed in HEK293T cells to assess subnuclear localization by immunofluorescence and chromatin binding patterns using CUT&Tag, with chromatin interactions inferred from published Hi-C datasets. CRISPR/Cas9-mediated ADNP knockout was performed for comparison. In vivo, wild-type ADNP or p.C687R was introduced into the embryonic mouse cortex at E14.5 via in utero electroporation (IUE) and neuronal development was evaluated at E18.5 and P14. Patient-derived induced pluripotent stem cells (iPSCs) from a de novo p.C687R carrier were differentiated into neural progenitor cells (NPCs) and analyzed by multi-omic profiling (RNA-seq, ChIP-seq, ATAC-seq), with lineage-specific markers examined by immunofluorescence. RESULTS: p.C687R displays altered subnuclear localization and redistributes wild-type ADNP when overexpressed in HEK293T. IUE in the mouse cortical plate revealed impaired neuronal migration and abnormal cortical arborization. Genome-wide profiling in HEK293T demonstrated a p.C687R-specific chromatin occupancy pattern, preferentially targeting histone modification-related genes. Knockout of ADNP led to upregulation of neuronal genes, including GABAergic lineage-associated genes. In patient-derived iPSCs, a distinct set of neurodevelopmental genes, including key regulators of GABAergic differentiation, showed increased bivalent histone marks (H3K4me3/H3K27me3). Although their promoters remained in an open chromatin state, these genes were transcriptionally silent in pluripotent cells but became more activated upon GABAergic differentiation. LIMITATIONS: This study is based on a single patient-derived line in combination with complementary experimental models. In the heterozygous endogenous context, distinguishing increased functional activity from dosage-related effects requires further investigation. Replication in additional patient-derived or engineered lines is required to determine the generalizability. CONCLUSIONS: Our results suggest that p.C687R may exert gain-of-function-like effects in experimental systems and underscore chromatin-mediated regulation of GABAergic lineage genes in HVDAS.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147628164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased c-Fos expression in lateral habenula during social transmission of negative valence in prairie voles.","authors":"Daniella Gamboa Pabón, Jolee Hatfield-King, Shivangi Patel, Brandon A Horn, James P Burkett, Elissar Andari","doi":"10.1186/s13229-026-00712-5","DOIUrl":"10.1186/s13229-026-00712-5","url":null,"abstract":"<p><p>BACKGROUND: Social learning is the process of acquiring social skills, new information, or associating negative or positive valence to a context through the observation of others and through direct social interaction with others. Neurodevelopmental disorders such as autism spectrum disorder show deficits in social salience and reciprocal affective responses. Social learning implicates the basolateral amygdala (BLA), anterior cingulate cortex (ACC), and anterior insula (AI). The lateral habenula (LHb), a brain area renowned for its role in negative reinforcement learning, has not been yet extensively studied in the domain of social learning. METHODS: We developed a fear conditioning by proxy paradigm called ‘social transmission of negative valence’ (STNV) and tested prairie voles on the task. Observers experienced negative social conditioning through a proxy cage mate that served as the demonstrator during retrieval of a cued fear memory. Observers went through a social memory recall session 24 h after observation. We measured observers’ freezing time, self-grooming, rearing, and ultrasonic vocalizations emitted as signs of distress. We also quantified immediate early gene translation as a proxy for neural activity using c-Fos immunochemistry 80 min after observing demonstrators going through memory recall. RESULTS: Socially-conditioned observers that were exposed to the fear-conditioned demonstrators displayed increased freezing time, self-grooming, and rearing during social recall sessions compared to control observers. They also displayed higher ultrasonic vocalization frequency compared to controls. Socially-conditioned observers showed increased c-Fos expression in the LHb, BLA, ACC and AI compared to controls. LIMITATIONS: The c-Fos findings are correlational and additional experiments involving chemo- or optogenetic inhibition or excitation of LHb neurons in observers are necessary for causality confirmation. CONCLUSIONS: We found that the LHb is co-activated with other key areas during social learning in prairie voles. These findings extend the traditional view of the LHb as an area involved in negative reinforcement learning and position it as a critical area for social affect. This offers a fresh perspective on the neural mechanisms of social affect and opens a new line of inquiry into brain dysfunction of social salience in neurodevelopmental disorders.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced task adaptation and contextual awareness in autistic adults during facial emotion recognition: evidence from mixed-effects modeling and automated facial analysis.","authors":"Simon Kirsch, Hanna Drimalla, William Saakyan, Bastian Elmar Alexander Sajonz, Justus Gritzmann, Simon Maier, Thomas Fangmeier, Muyu Lin, Simón Guendelman, Christian Kaufmann, Isabel Dziobek, Ludger Tebartz van Elst","doi":"10.1186/s13229-026-00711-6","DOIUrl":"10.1186/s13229-026-00711-6","url":null,"abstract":"<p><p>BACKGROUND: Despite significant advances in understanding facial emotion recognition (FER) in autistic adults in recent decades, the mechanisms underlying FER difficulties in individuals with autism remain unclear, with inconsistent findings across studies. A key limitation may be the reliance on aggregate accuracy scores, which overlook item- and subject-level variability. Here, we investigated the effects of task adaptation and stimulus properties on FER performance in autistic and non-autistic adults using mixed-effects modelling. METHODS: A total of 120 autistic and 116 non-autistic participants completed the Berlin Emotion Recognition Test 2. Performance was analyzed on a trial-by-trial basis, considering trial number, stimulus properties—derived from automated facial analysis—and their interactions with diagnostic group. Response times were analyzed using mixed-effects linear regression models, while accuracy was analyzed using mixed-effects logistic regression models. RESULTS: Compared with non-autistic participants, autistic participants demonstrated lower overall accuracy and slower responses, accompanied by significantly reduced task adaptation. Contextual ambiguity of stimulus faces moderated group differences in FER accuracy, with non-autistic subjects showing greater use of contextual information. Social-cognitive traits further moderated the effect of contextual ambiguity in autistic subjects. LIMITATIONS: Our findings are specific to the design and stimulus material of the Berlin Emotion Recognition Test 2 and may not generalize to other FER tasks. Furthermore, our sample did not include individuals with intellectual disabilities, limiting generalizability across the autism spectrum. Lastly, the reliability of stimulus property estimates derived from automated facial analysis may require validation on a larger sample of stimulus faces. CONCLUSIONS: Our findings reveal that differences in task adaptation and contextual cue processing underlie FER performance differences in individuals with autism, emphasizing the importance of participant- and item-level analysis. These results may inform future study designs and highlight the advantages of integrating automated FER with mixed-effects modeling in autism research.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12983792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biased mental face representations of autistic children in the general population.","authors":"Qiandong Wang, Waxun Su, Liting Zeng, Xiao Lin, Li Yi","doi":"10.1186/s13229-026-00709-0","DOIUrl":"10.1186/s13229-026-00709-0","url":null,"abstract":"<p><p>BACKGROUND: Autism stigma significantly impacts the quality of life for autistic individuals and their families. Methods to measure stigma, such as self-report scales, may be influenced by social desirability biases and fail to uncover the psychological mechanisms underlying stigma formation. The present study used the reverse-correlation image classification (RCIC) technique to investigate whether the mental faces of autistic children were represented more negatively than non-autistic children, and to examine potential associations between these biases and behavioral characteristics or diagnostic labels of autism. METHODS: In Study 1, participants selected between two faces (with random visual noise) that best matched their mental image of an autistic child. The selected and unselected faces were averaged to generate mental face representations, which were then rated on attractiveness, felt disgust, and behavioral avoidance. Studies 2 and 3 further examined the impact of behavioral characteristics and diagnostic labels on these mental representations by presenting participants with target persons paired with autistic behaviors or autism labels versus typical behaviors or non-autism labels. RESULTS: Study 1 found that, compared to mental representations of non-autistic children, participants rated mental representations of autistic children as less attractive, reported increased felt disgust toward them, and indicated a greater likelihood of avoiding them. Parents of autistic children similarly exhibited negative representations. Studies 2 & 3 revealed that arbitrary pairing of faces with autistic behaviors (vs. typical) or autism labels (vs. non-autism) led to less attractive mental images. LIMITATIONS: The stimuli were limited to male children’s faces with neutral expressions, restricting generalizability across gender, age, and emotion. The design could not determine whether negative representations reflect autism‑specific stigma or a broader social bias triggered by perceived difference. The study did not explore individual differences or incorporate autistic perspectives in stimulus design. CONCLUSIONS: Negative mental face representations of autism exist independently of physical traits, shaped by behavioral cues and diagnostic labels. These findings highlight a possible mechanism underlying stigma: the formation of negative mental face representations contributes to biased evaluations of autistic children. Future research could explore whether modifying such representations might offer a new pathway for supporting strategies.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13020090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147317680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large-scale neural network compensation associated with camouflaging in trait autism and its potential mental health costs.","authors":"Han Guo, Xiaobing Chen, Aihua Zhou, Juan Kou, Yi Lei, Keith M Kendrick, Lei Xu","doi":"10.1186/s13229-026-00710-7","DOIUrl":"10.1186/s13229-026-00710-7","url":null,"abstract":"<p><p>BACKGROUND: Social camouflaging refers to strategies to hide or compensate for social difficulties, often at significant mental health costs, and is particularly prevalent in autism. The large-scale neural network associated with this adaptation remains poorly understood. This study aimed to identify these neural network patterns and their link to potential mental health issues. METHODS: Using a dimensional approach, we recruited 110 healthy young adults who completed self-report questionnaires measuring autistic traits and camouflaging as well as depression and anxiety, and underwent resting-state fMRI scans. The interaction between camouflaging and autistic traits on brain network connectivity was examined using the 300-node Seitzman atlas, encompassing 13 functional networks. RESULTS: Among individuals with higher autistic traits, greater camouflaging was associated with increased connectivity between the Default Mode Network (DMN) and the Cingulo-Opercular Network (CON), as well as within the CON. Crucially, DMN-CON hyperconnectivity statistically mediated the relationship between camouflaging and potential mental health costs (i.e., depression and anxiety scores) but only in individuals with higher autistic traits. Limitations: Our study was limited by its predominantly non-clinical sample, the cross-sectional design, and the use of resting-state rather than task-based fMRI. CONCLUSIONS: These findings reveal specific compensatory neural network patterns associated with camouflaging in those high in autistic traits, involving interoception, self-referential, and executive control systems, and provide a neurobiological explanation for its potential mental health burden, highlighting the need for societal changes that reduce the pressure for such adaptations.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":""},"PeriodicalIF":5.7,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12950243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147308046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Priorities for change for autistic people across Europe.","authors":"Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Amber Ruigrok, Joyce Man, Tracey Parsons, Kathryn Gibbs, Edward Bullock, Aurélie Baranger, Carrie Allison, Mary Doherty, Anjuli Ghosh, Jerneja Terčon, Katrien Van den Bosch, Simon Baron-Cohen","doi":"10.1186/s13229-026-00706-3","DOIUrl":"10.1186/s13229-026-00706-3","url":null,"abstract":"<p><p>BACKGROUND: Despite rising rates of autism prevalence, there remains a pressing need to enhance the quality of life for autistic people in Europe and around the world. METHODS: We conducted the 10 Points for Change survey to identify the 10 most important areas that require improvement for autistic people across the region. Data from 1,709 autistic people, parents/carers and members of autism-related organisations residing within the European Union (EU) and the United Kingdom (UK) were analysed, together with autism-related differences (autistic vs. non-autistic; formal vs. no formal autism diagnosis) and gender differences (male vs. female) in results. RESULTS: Across groups, areas that require the most urgent changes are education, public awareness and understanding of autism, employment, and government funding for autism-specific services. Differences in results between groups reflect their specific needs and experiences. Discrimination is a crucial area for change according to autistic people with formal diagnosis of autism, whereas autistic people without formal diagnosis indicate diagnostic services as a priority for change. According to parents/carers and members of autism-related organisations, changes are also needed to improve social inclusion of autistic people. Other areas of priority for change across all groups include mental healthcare (within top 10 for autistic participants and parents/carers), support with daily living, and post-diagnostic services (the latter two within top 10 for parents/carers and members of autism-related organisations). For some areas, their identification and importance as priorities for change significantly varied with whether participants were autistic or formally diagnosed and autistic participants’ gender. Comparisons across countries with the greatest representation in the survey – Germany, the UK, France, Spain and Poland – revealed consistent priorities. LIMITATIONS: Consideration should be given to issues related to methodology and data availability such as how representative the sample is of countries across the EU and the UK. Autistic people with high support needs might have also been unable to participate directly and responses from carers representing them might not fully reflect their views or provide representative data. CONCLUSION: Change through concerted legislative actions within and across countries in Europe is needed to address the priority areas for change for autistic people.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"17 1","pages":"12"},"PeriodicalIF":5.7,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of glymphatic dysfunction, free water, white matter integrity and long-term memory performance in aging autistic adults.","authors":"Yuanchao Zhang, Edward Ofori, Kewei Chen, Samantha A Harker, Manuela Velez, Stephen Gallegos, Katie Grabeel, Faith Johnson, Leslie Baxter, Bryan Woodruff, B Blair Braden","doi":"10.1186/s13229-026-00705-4","DOIUrl":"10.1186/s13229-026-00705-4","url":null,"abstract":"<p><p>BACKGROUND: Autistic adults are at elevated risk of accelerated cognitive aging and Alzheimer’s disease and related dementias (ADRD), yet the underlying neurobiological mechanisms remain poorly understood. Dysfunction in the glymphatic system—a brain-wide network responsible for clearing waste via interstitial fluid flow—may contribute to this vulnerability by promoting extracellular free water (FW) accumulation and white matter (WM) degeneration. METHODS: A total of 113 autistic and 90 age- and sex-matched neurotypical (NT) adults (aged 18–71 years) underwent multimodal MRI scanning and episodic memory assessments. Diffusion tensor image analysis along the perivascular space (DTI-ALPS) index, alongside FW maps, and fractional anisotropy (FA) maps were computed for each participant. Group comparisons, correlations, and mediation analyses were performed. RESULTS: Autistic adults showed significantly lower DTI-ALPS values, higher fornix FW, lower fornix FA, and poorer episodic memory scores compared to NT adults. Age-related hippocampal FW accumulation was more pronounced in autistic adults. Mediation analyses revealed that fornix FW mediated the relationship between DTI-ALPS and both fornix FA and hippocampal FW. Long-term episodic memory scores correlated with fornix FA, as well as whole-brain gray matter FW and WM FA in autistic adults. LIMITATIONS: The cross-sectional design precludes causal inference regarding glymphatic function, free water accumulation, WM integrity, and cognition. In addition, our sample was not evenly balanced by sex and excluded individuals with co-occurring intellectual disability, which may limit generalizability to the broader autistic population. CONCLUSIONS: Our results suggest that glymphatic dysfunction and FW accumulation may contribute to aberrant WM microstructure and episodic memory challenges in autistic adults across a broad age range. These findings point to potential biomarkers for identifying and intervening in the cognitive aging process in autism.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":" ","pages":"10"},"PeriodicalIF":5.7,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146220477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}