Molecular Autism最新文献

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Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years. 绘制埃及自闭症地图:1-12岁儿童中患病率、风险决定因素和严重程度的基于人群的见解。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-05-29 DOI: 10.1186/s13229-025-00665-1
Ammal M Metwally, Ebtissam M Salah El-Din, Samia M Sami, Ehab R Abdelraouf, Sara F Sallam, Amal Elsaeid, Mostafa M El-Saied, Engy A Ashaat, Asmaa M Fathy, Hazem M El-Hariri, Ghada A Elshaarawy, Maysa S Nassar, Manal A Shehata, Inas R El-Alameey, Randa I Bassiouni, Mohamed H Abdou, Mona A Helmy, Nahed A Elghareeb, Mohamed AbdAllah, Thanaa M Rabah, Somia I Salama, Rehan M Saleh, Lobna A El Etreby, Dalia M Elmosalami, Eman Eltahlawy, Dina Abu Zeid
{"title":"Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years.","authors":"Ammal M Metwally, Ebtissam M Salah El-Din, Samia M Sami, Ehab R Abdelraouf, Sara F Sallam, Amal Elsaeid, Mostafa M El-Saied, Engy A Ashaat, Asmaa M Fathy, Hazem M El-Hariri, Ghada A Elshaarawy, Maysa S Nassar, Manal A Shehata, Inas R El-Alameey, Randa I Bassiouni, Mohamed H Abdou, Mona A Helmy, Nahed A Elghareeb, Mohamed AbdAllah, Thanaa M Rabah, Somia I Salama, Rehan M Saleh, Lobna A El Etreby, Dalia M Elmosalami, Eman Eltahlawy, Dina Abu Zeid","doi":"10.1186/s13229-025-00665-1","DOIUrl":"https://doi.org/10.1186/s13229-025-00665-1","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management of possible risk factors can diminish ASD incidence.</p><p><strong>Aim: </strong>To determine the prevalence and severity of idiopathic ASD in Egyptian children aged 12 months to 12 years, and to identify the epidemiological, sociodemographic, and environmental risk factors contributing to this disorder.</p><p><strong>Methods: </strong>This study comprised 41,640 children from the main eight geographic areas in Egypt. It was conducted through four phases: household screening, facility-based screening for high-risk children, diagnosis confirmation, and risk factor assessment.</p><p><strong>Results: </strong>The prevalence of ASD as confirmed by the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Childhood Autism Rating Scale (CARS) was 1.1% (455 out of 41,640), with significant geographic variability. Urban areas had a significantly higher prevalence than rural areas. Children aged 3-6 years showed the highest prevalence at 1.5%. Boys were four times more affected than girls, with prevalence rates of 1.7% and 0.4%, respectively. Significant risk factors included: a history of convulsions (AOR = 4.7; 95% CI: 3.3-6.79), low birth weight (AOR = 2.08; 95% CI: 1.54-2.79), prolonged stays in neonatal intensive care unit (NICU) longer than two days (AOR = 1.91; 95% CI: 1.46-2.49) and maternal health problems during pregnancy (AOR = 1.66; 95% CI:1.36-1.95). Regarding severity, 45% of diagnosed children had moderate ASD, 39% had severe ASD, and 16% had mild ASD. Female gender and older age were significant predictors of greater ASD severity.</p><p><strong>Conclusion: </strong>ASD prevalence in Egypt is comparable to other Middle Eastern countries. Policymakers should utilize these findings to design targeted public health interventions aimed at early detection, management, and prevention of ASD progression.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"32"},"PeriodicalIF":6.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults. 自闭症成人的特定关系社交触摸减少和非典型情感联系。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-05-26 DOI: 10.1186/s13229-025-00666-0
Ayaka Fukuoka, Ryo Kitada, Kai Makita, Takuya Makino, Nodoka Sakakihara, Lauri Nummenmaa, Hirotaka Kosaka
{"title":"Reduced relationship-specific social touching and atypical association with emotional bonding in autistic adults.","authors":"Ayaka Fukuoka, Ryo Kitada, Kai Makita, Takuya Makino, Nodoka Sakakihara, Lauri Nummenmaa, Hirotaka Kosaka","doi":"10.1186/s13229-025-00666-0","DOIUrl":"10.1186/s13229-025-00666-0","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by social communication deficits, repetitive behaviors and restricted interests. Studies have reported aberrant sensory responses, including altered experiences of social touch, in individuals with ASD. However, the relationship between atypical social touch and social networks in ASD remains poorly understood. Social touch is used to strengthen and manage social networks in many species. Studies in general populations across diverse cultures show that the extent of permissible touch is consistently linked to the strength of emotional bonds between the toucher and the touched individual. This study examined relationship-specific patterns of social touch and their association with emotional bonding in individuals with ASD.</p><p><strong>Methods: </strong>Seventy adults with ASD and 70 typically developed (TD) adults rated their emotional bonds with different social network members (e.g., partners, fathers, strangers) and the pleasantness of being touched by each. Participants also identified body regions where they allowed touch. We hypothesized that patterns of interpersonal touch allowance and emotional bonding, and their relationship, would differ between ASD and TD adults.</p><p><strong>Result: </strong>In all social network members except children and female friends, ASD adults allowed significantly less social touching than TD adults. Compared to TD adults, ASD adults also reported having significantly weaker emotional bonds with one social network member and experiencing significantly less pleasantness when touched by multiple members of their social network. In both groups, strength of emotional bond was significantly correlated with permissible touch area. Linear regression analyses showed that our ASD participants were more reliant on bodily touch allowance for emotional bonding than the TD controls.</p><p><strong>Limitations: </strong>More participants are necessary to secure sufficient number of social network members in ASD.</p><p><strong>Conclusions: </strong>Our results suggest that adults with ASD generally prefer less social touch from most social network members and show reduced emotional bonding with only a specific connection. In addition, touch allowance was more strongly associated with emotional bonding in ASD than TD adults. These findings highlight the influence of autistic traits on the relationship between social touch and emotional bonding within social networks.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"31"},"PeriodicalIF":6.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107774/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151253","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}
引用次数: 0
Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders. 更好的统计报告并不能带来统计上的严谨性:这是二十年来在神经疾病小鼠模型研究中进行的假复制的经验教训。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-05-26 DOI: 10.1186/s13229-025-00663-3
Constantinos Eleftheriou, Sarah Giachetti, Raven Hickson, Laura Kamnioti-Dumont, Robert Templaar, Alina Aaltonen, Eleni Tsoukala, Nawon Kim, Lysandra Fryer-Petridis, Chloe Henley, Ceren Erdem, Emma Wilson, Beatriz Maio, Jingjing Ye, Jessica C Pierce, Kath Mazur, Lucia Landa-Navarro, Nina G Petrović, Sarah Bendova, Hanan Woods, Manuela Rizzi, Vanesa Salazar-Sanchez, Natasha Anstey, Antonios Asiminas, Shinjini Basu, Sam A Booker, Anjanette Harris, Sam Heyes, Adam Jackson, Alex Crocker-Buque, Aoife C McMahon, Sally M Till, Lasani S Wijetunge, David Ja Wyllie, Catherine M Abbott, Timothy O'Leary, Peter C Kind
{"title":"Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders.","authors":"Constantinos Eleftheriou, Sarah Giachetti, Raven Hickson, Laura Kamnioti-Dumont, Robert Templaar, Alina Aaltonen, Eleni Tsoukala, Nawon Kim, Lysandra Fryer-Petridis, Chloe Henley, Ceren Erdem, Emma Wilson, Beatriz Maio, Jingjing Ye, Jessica C Pierce, Kath Mazur, Lucia Landa-Navarro, Nina G Petrović, Sarah Bendova, Hanan Woods, Manuela Rizzi, Vanesa Salazar-Sanchez, Natasha Anstey, Antonios Asiminas, Shinjini Basu, Sam A Booker, Anjanette Harris, Sam Heyes, Adam Jackson, Alex Crocker-Buque, Aoife C McMahon, Sally M Till, Lasani S Wijetunge, David Ja Wyllie, Catherine M Abbott, Timothy O'Leary, Peter C Kind","doi":"10.1186/s13229-025-00663-3","DOIUrl":"10.1186/s13229-025-00663-3","url":null,"abstract":"<p><strong>Background: </strong>Accurately determining the sample size (\"N\") of a dataset is a key consideration for experimental design. Misidentification of sample size can lead to pseudoreplication, a process of artificially inflating the number of experimental replicates which systematically underestimates variability, overestimates effect sizes and invalidates statistical tests performed on the data. While many journals have adopted stringent requirements with regard to statistical reporting over the last decade, it remains unknown whether such efforts have had a meaningful impact on statistical rigour.</p><p><strong>Methods: </strong>Here, we evaluated the prevalence of this type of statistical error among neuroscience studies involving animal models of Fragile-X Syndrome (FXS) and those using animal models of neurological disorders at large published between 2001 and 2024.</p><p><strong>Results: </strong>We found that pseudoreplication was present in the majority of publication, increasing over time despite marked improvements in statistical reporting over the last decade. This trend generalised beyond the FXS literature to rodent studies of neurological disorders at large between 2012 and 2024, suggesting that pseudoreplication remains a widespread issue in the literature.</p><p><strong>Limitations: </strong>The scope of this study was limited to rodent-model studies of neurological disorders which had the potential for being pseudoreplicated, by allowing repeat observations from individual animals. We did not consider reviews or articles whose experimental design could not allow for pseudoreplication, for example studies which reported only behavioural results, or studies which did not use inferential statistics.</p><p><strong>Conclusions: </strong>These observations identify an urgent need for better standards in experimental design and increased vigilance for this type of error during peer review. While reporting standards have significantly improved over the past two decades, this alone has not been enough to curb the prevalence of pseudoreplication. We offer suggestions for how this can be remedied as well as quantifying the severity of this particular type of statistical error. Although the examined literature concerns a specific neuroscience-related area of research, the implications of pseudoreplication apply to all fields of empirical research.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"30"},"PeriodicalIF":6.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142956","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}
引用次数: 0
A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults. 自闭症与非自闭症成人双向心智化的跨文化研究。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-05-14 DOI: 10.1186/s13229-025-00659-z
Bianca A Schuster, Y Okamoto, T Takahashi, Y Kurihara, C T Keating, J L Cook, H Kosaka, M Ide, H Naruse, C Kraaijkamp, R Osu
{"title":"A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults.","authors":"Bianca A Schuster, Y Okamoto, T Takahashi, Y Kurihara, C T Keating, J L Cook, H Kosaka, M Ide, H Naruse, C Kraaijkamp, R Osu","doi":"10.1186/s13229-025-00659-z","DOIUrl":"10.1186/s13229-025-00659-z","url":null,"abstract":"<p><strong>Background: </strong>So-called 'mismatch accounts' propose that, rather than arising from a socio-cognitive deficit present in autistic people, mentalising difficulties are the product of a mismatch in neurotype between interaction partners. Although this idea has grown in popularity over recent years, there is currently only limited empirical evidence to support mismatch theories. Moreover, the social model of disability such theories are grounded in demands a culturally situated view of social interaction, yet research on mentalising and/or autism is largely biased towards Western countries, with little knowledge on how successful mentalising is defined differently, and how tools to assess socio-cognitive ability compare, across cultures.</p><p><strong>Methods: </strong>Using a widely employed mentalising task-the animations task-, the current study investigated and compared the bi-directional mentalising performance of British and Japanese autistic and non-autistic adults and assessed observer-agent kinematic similarity as a potential dimension along which mismatches may occur between neurotypes. Participants were asked to depict various mental state- and action-based interactions by moving two triangles across a touch-screen device before viewing and interpreting stimuli generated by other participants.</p><p><strong>Results: </strong>In the UK sample, our results replicate a seminal prior study in showing poorer mentalising abilities in non-autistic adults for animations generated by the autistic group. Crucially, the same pattern did not emerge in the Japanese sample, where there were no mentalising differences between the two groups.</p><p><strong>Limitations: </strong>Limitations of the current study include that efforts to match all samples within and across cultures in terms of IQ, gender, and age were not successful in all comparisons, but control analyses suggest this did not affect our results. Furthermore, any performance differences were found for both the mental state- and action-based conditions, mirroring prior work and raising questions about the domain-specificity of the employed task.</p><p><strong>Conclusions: </strong>Our results add support for a paradigm shift in the autism literature, moving beyond deficit-based models and towards acknowledging the inherently relational nature of social interaction. We further discuss how our findings suggest limited cultural transferability of common socio-cognitive measures rather than superior mentalising abilities in Japanese autistic adults, underscoring the need for more cross-cultural research and the development of culturally sensitive scientific and diagnostic tools.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"29"},"PeriodicalIF":6.3,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018365","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}
引用次数: 0
Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood. 出版商更正:灵活的非线性模型揭示了自闭症男性从童年到成年中期静息状态大脑功能连接的年龄相关差异。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-05-02 DOI: 10.1186/s13229-025-00662-4
Daniel Feldman, Molly Prigge, Andrew Alexander, Brandon Zielinski, Janet Lainhart, Jace King
{"title":"Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood.","authors":"Daniel Feldman, Molly Prigge, Andrew Alexander, Brandon Zielinski, Janet Lainhart, Jace King","doi":"10.1186/s13229-025-00662-4","DOIUrl":"https://doi.org/10.1186/s13229-025-00662-4","url":null,"abstract":"","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"28"},"PeriodicalIF":6.3,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018545","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}
引用次数: 0
The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth. 孤独症和神经正常青少年早晨皮质醇和睾酮的交叉和发展轨迹。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-04-24 DOI: 10.1186/s13229-025-00658-0
Blythe A Corbett, Trey McGonigle, Rachael A Muscatello, Simon Vandekar, Rachel Calvosa
{"title":"The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth.","authors":"Blythe A Corbett, Trey McGonigle, Rachael A Muscatello, Simon Vandekar, Rachel Calvosa","doi":"10.1186/s13229-025-00658-0","DOIUrl":"https://doi.org/10.1186/s13229-025-00658-0","url":null,"abstract":"<p><strong>Background: </strong>Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years).</p><p><strong>Methods: </strong>In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior.</p><p><strong>Results: </strong>For cortisol, there was a significant diagnosis by sex by age interaction (X<sup>2</sup> = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X<sup>2</sup> = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X<sup>2</sup> = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X<sup>2</sup> = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements.</p><p><strong>Limitations: </strong>Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children.</p><p><strong>Conclusions: </strong>Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"27"},"PeriodicalIF":6.3,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018557","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}
引用次数: 0
Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder. 自闭症谱系障碍啮齿动物模型中活动依赖性大体积内吞的收敛性抑制。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-04-16 DOI: 10.1186/s13229-025-00660-6
Katherine Bonnycastle, Mohammed Sarfaraz Nawaz, Peter C Kind, Michael A Cousin
{"title":"Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder.","authors":"Katherine Bonnycastle, Mohammed Sarfaraz Nawaz, Peter C Kind, Michael A Cousin","doi":"10.1186/s13229-025-00660-6","DOIUrl":"https://doi.org/10.1186/s13229-025-00660-6","url":null,"abstract":"<p><strong>Background: </strong>The key pathological mechanisms underlying autism spectrum disorder (ASD) remain relatively undetermined, potentially due to the heterogenous nature of the condition. Targeted studies of a series of monogenic ASDs have revealed postsynaptic dysfunction as a central conserved mechanism. Presynaptic dysfunction is emerging as an additional disease locus in neurodevelopmental disorders; however, it is unclear whether this dysfunction drives ASD or is an adaptation to the altered brain microenvironment.</p><p><strong>Methods: </strong>To differentiate between these two competing scenarios, we performed a high content analysis of key stages of the synaptic vesicle lifecycle in primary neuronal cultures derived from a series of preclinical rat models of monogenic ASD. These five independent models (Nrxn1<sup>+/-</sup>, Nlgn3<sup>-/y</sup>, Syngap<sup>+/-</sup>, Syngap<sup>+/Δ-GAP</sup>, Pten<sup>+/-</sup>) were specifically selected to have perturbations in a diverse palette of genes that were expressed either at the pre- or post-synapse. Synaptic vesicle exocytosis and cargo trafficking were triggered via two discrete trains of activity and monitored using the genetically-encoded reporter synaptophysin-pHluorin. Activity-dependent bulk endocytosis was assessed during intense neuronal activity using the fluid phase marker tetramethylrhodamine-dextran.</p><p><strong>Results: </strong>Both synaptic vesicle fusion events and cargo trafficking were unaffected in all models investigated under all stimulation protocols. However, a key convergent phenotype across neurons derived from all five models was revealed, a depression in activity-dependent bulk endocytosis.</p><p><strong>Limitations: </strong>The study is exclusively conducted in primary cultures of hippocampal neurons; therefore, the impact on neurons from other brain regions or altered brain microcircuitry was not assessed. No molecular mechanism has been identified for this depression.</p><p><strong>Conclusion: </strong>This suggests that depression of activity-dependent bulk endocytosis is a presynaptic homeostatic mechanism to correct for intrinsic dysfunction in ASD neurons.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"26"},"PeriodicalIF":6.3,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990848","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}
引用次数: 0
Publisher Correction: Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study. 模仿能力对自闭症儿童社会沟通的影响:来自早期开始丹佛模型干预研究的证据。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-04-15 DOI: 10.1186/s13229-025-00661-5
Shihua Xiao, Jing Li
{"title":"Publisher Correction: Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study.","authors":"Shihua Xiao, Jing Li","doi":"10.1186/s13229-025-00661-5","DOIUrl":"10.1186/s13229-025-00661-5","url":null,"abstract":"","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"25"},"PeriodicalIF":6.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010111","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}
引用次数: 0
Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood. 柔性非线性模型揭示了自闭症男性从童年到成年中期静息状态脑功能连接的年龄相关差异。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-04-15 DOI: 10.1186/s13229-025-00657-1
Daniel Feldman, Molly Prigge, Andrew Alexander, Brandon Zielinski, Janet Lainhart, Jace King
{"title":"Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood.","authors":"Daniel Feldman, Molly Prigge, Andrew Alexander, Brandon Zielinski, Janet Lainhart, Jace King","doi":"10.1186/s13229-025-00657-1","DOIUrl":"https://doi.org/10.1186/s13229-025-00657-1","url":null,"abstract":"<p><strong>Background: </strong>Divergent age-related functional brain connectivity in autism spectrum disorder (ASD) has been observed using resting-state fMRI, although the specific findings are inconsistent across studies. Common statistical regression approaches that fit identical models across functional brain networks may contribute to these inconsistencies. Relationships among functional networks have been reported to follow unique nonlinear developmental trajectories, suggesting the need for flexible modeling. Here we apply generalized additive models (GAMs) to flexibly adapt to distinct network trajectories and simultaneously describe divergent age-related changes from childhood into mid-adulthood in ASD.</p><p><strong>Methods: </strong>1107 males, aged 5-40, from the ABIDE I & II cross-sectional datasets were analyzed. Functional connectivity was extracted using a network-based template. Connectivity values were harmonized using COMBAT-GAM. Connectivity-age relationships were assessed with thin-plate spline GAMs. Post-hoc analyses defined the age-ranges of divergent aging in ASD.</p><p><strong>Results: </strong>Typically developing (TD) and ASD groups shared 15 brain connections that significantly changed with age (FDR-corrected p < 0.05). Network connectivity exhibited diverse nonlinear age-related trajectories across the functional connectome. Comparing ASD and TD groups, default mode to central executive between-network connectivity followed similar nonlinear paths with no group differences. Contrarily, the ASD group had chronic hypoconnectivity throughout default mode-ventral attentional (salience) and default mode-somatomotor aging trajectories. Within-network somatomotor connectivity was similar between groups in childhood but diverged in adolescence with the ASD group showing decreased within-network connectivity. Network connectivity between the somatomotor network and various other functional networks had fully disrupted age-related pathways in ASD compared to TD, displaying significantly different model curvatures and fits.</p><p><strong>Limitations: </strong>The present analysis includes only male participants and has a restricted age range, limiting analysis of early development and later life aging, years 40 and beyond. Additionally, our analysis is limited to large-scale network cortical functional parcellation. To parse more specificity of brain region connectivity, a fine-grained functional parcellation including subcortical areas may be warranted.</p><p><strong>Conclusion: </strong>Flexible non-linear modeling minimizes statistical assumptions and allows diagnosis-related brain connections to follow independent data-driven age-related pathways. Using GAMs, we describe complex age-related pathways throughout the human connectome and observe distinct periods of divergence in autism.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"24"},"PeriodicalIF":6.3,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027283","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}
引用次数: 0
Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study. 模仿能力对自闭症儿童社会交往的影响:来自早期启动丹佛模式干预研究的证据。
IF 6.3 1区 医学
Molecular Autism Pub Date : 2025-04-04 DOI: 10.1186/s13229-025-00656-2
Shihua Xiao, Jing Li
{"title":"Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study.","authors":"Shihua Xiao, Jing Li","doi":"10.1186/s13229-025-00656-2","DOIUrl":"10.1186/s13229-025-00656-2","url":null,"abstract":"<p><p>Imitation is foundational to early social learning, yet autistic children often exhibit significant impairments in imitation, potentially impacting their social communication skills. This study examined the relationship between imitation abilities and social communication in autistic children and evaluated the effectiveness of the Early Start Denver Model (ESDM) intervention. The study included 52 autistic children aged 2-5, divided into an experimental group receiving ESDM intervention and a control group undergoing standard rehabilitation. We assessed the children's imitation and social communication skills before and after the intervention. Results indicated a significant positive correlation between imitation and social communication skills both before and after the intervention. Specifically, various forms of imitation (e.g., vocal, gestural, object-related) were closely linked to different domains of social communication (e.g., expressive communication, joint attention, social skills). Baseline imitation levels and improvements in imitation were significant predictors of enhanced social communication, jointly accounting for over half of the observed improvements in social communication, with imitation improvement being the strongest predictor. Age positively moderated the relationship between imitation and social communication, with older children showing a stronger impact of imitation on social communication. Although these effects were evident across groups, the ESDM group showed greater gains in imitation skills compared to the control group. However, we did not find evidence of an intervention effect on social communication skills. This study underscores the critical role of imitation in the social communication development of autistic children. These findings support the enhancement of imitation skills in early interventions for autistic children, highlighting the effectiveness of ESDM in fostering imitation abilities.</p>","PeriodicalId":18733,"journal":{"name":"Molecular Autism","volume":"16 1","pages":"23"},"PeriodicalIF":6.3,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788547","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}
引用次数: 0
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