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Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model 使用多源模型估计费伦麦克德米综合征的患病率约为1:7300。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-28 DOI: 10.1002/aur.70297
Tess Levy, David Lapidus, Kate Friedman, Paige Siper, Larry Glass, Liza Squires, Mary Hames, Joseph D. Buxbaum, Genetic Testing Consortium, Alexander Kolevzon
{"title":"Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model","authors":"Tess Levy,&nbsp;David Lapidus,&nbsp;Kate Friedman,&nbsp;Paige Siper,&nbsp;Larry Glass,&nbsp;Liza Squires,&nbsp;Mary Hames,&nbsp;Joseph D. Buxbaum,&nbsp;Genetic Testing Consortium,&nbsp;Alexander Kolevzon","doi":"10.1002/aur.70297","DOIUrl":"10.1002/aur.70297","url":null,"abstract":"<p>Estimating the prevalence of genetic disorders is complicated by many factors including sampling bias and differing methods of estimation. However, establishing the true prevalence of these disorders is critical for understanding disease burden, pharmacoeconomic modeling, and resource allocation for testing and care. Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder with an unknown true prevalence and previous estimates vary from 2.5–10 per million births. The study team reached out to a multitude of sources, including clinical genetic testing laboratories, research centers, and clinical centers. Sites provided the number of PMS diagnoses made out of the total number participants with autism tested at their site. Further extrapolations were made to adjust for the proportion of individuals with PMS who do not have autism, autism diagnosis age limitations, and type of genetic variant. Lastly, Centers for Disease Control estimates of autism rates were used to extrapolate to the general population. Ten sources participated and data from 179,837 autism cases were evaluated. The frequency of PMS diagnoses ranged from 1% to ~2.5%. However, the studies had different levels of sensitivity depending on the assay(s) used, and therefore raw results should not be directly compared. After applying extrapolations, including adjustments for assay sensitivity and other factors, the final weighted average was 13.7 per 100,000 (95% CI 10.02–18.60 per 100,000), indicating 1 in ~7300 individuals in the general population have PMS. We leveraged a diverse set of genetic data from multiple sources to generate a population-level estimate of the prevalence of PMS. Our findings indicate that PMS affects approximately 13.7 per 100,000 individuals, substantially higher than previous estimates.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70297","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148347530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Functional Brain Asymmetry Reveals Heterogeneous Subtypes in Autism Spectrum Disorder 功能性脑不对称揭示自闭症谱系障碍的异质亚型。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-23 DOI: 10.1002/aur.70304
Chae Yeon Kim, Sunghun Kim, Bo-yong Park
{"title":"Functional Brain Asymmetry Reveals Heterogeneous Subtypes in Autism Spectrum Disorder","authors":"Chae Yeon Kim,&nbsp;Sunghun Kim,&nbsp;Bo-yong Park","doi":"10.1002/aur.70304","DOIUrl":"10.1002/aur.70304","url":null,"abstract":"<p>Heterogeneity is a critical factor in understanding inter-individual brain and behavioral variability in autism spectrum disorder (ASD). Since individuals with ASD exhibit atypical communication and social interaction skills closely linked to brain lateralization, this study investigated ASD heterogeneity using an asymmetry index that captures interhemispheric differences in brain function. Degree centrality was computed from the functional connectivity matrix, and its asymmetry was quantified for each brain region. Using an unsupervised clustering algorithm, we identified three distinct subtypes within the ASD population that showed significant differences in brain asymmetry in the somatomotor, frontoparietal, and default mode networks. Comparisons of symptom severity indicated that subtype 2, which displayed atypical asymmetry patterns along the sensory–default mode axis, exhibited higher clinical severity. Functional connectivity analyses further revealed that subtype 1, characterized by rightward asymmetry, demonstrated hypoconnectivity across sensory and heteromodal association regions, whereas subtype 3, characterized by leftward asymmetry, exhibited hyperconnectivity. Cognitive decoding suggested distinct neurocognitive profiles for each subtype: subtype 1 was associated with increased engagement of self-referential and motivational processes (social-motivational subtype), subtype 2 with impaired regulatory and executive functions (cognitive control/impulsive subtype), and subtype 3 with enhanced involvement of mnemonic and language-related systems (memory-language subtype). Together, these findings advance our understanding of functional brain heterogeneity in ASD and demonstrate that subtype identification based on hemispheric asymmetry offers a promising framework for elucidating topological and behavioral variability within the ASD population.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70304","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Seeing the Child Within: A Randomized Controlled Trial of Reflective Functioning Intervention for Parents of Autistic Children 看到内在的孩子:自闭症儿童父母反思功能干预的随机对照试验。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-07-02 DOI: 10.1002/aur.70301
Yael Enav, Natalia Kirsman, Dana Erhard Weiss, Yael Mayer
{"title":"Seeing the Child Within: A Randomized Controlled Trial of Reflective Functioning Intervention for Parents of Autistic Children","authors":"Yael Enav,&nbsp;Natalia Kirsman,&nbsp;Dana Erhard Weiss,&nbsp;Yael Mayer","doi":"10.1002/aur.70301","DOIUrl":"10.1002/aur.70301","url":null,"abstract":"<p>Parents of autistic children often face elevated emotional demands and challenges in interpreting their child's inner experience. Parental reflective functioning (PRF), the capacity to understand behavior in terms of underlying mental states, is considered a key mechanism in fostering emotionally attuned and adaptive caregiving. Despite its importance, few interventions directly target PRF, and fewer still have tested brief, group-based formats designed for broad accessibility. We conducted a randomized controlled trial to evaluate a brief, virtual PRF intervention delivered via Zoom to 249 parents of autistic children. Participants were randomly assigned to either an intervention group (<i>n</i> = 129) or a waitlist control group (<i>n</i> = 130), and completed assessments at baseline and postintervention. PRF was measured using a standardized interview, while self-report questionnaires assessed parenting self-efficacy, beliefs about emotional malleability, depressive symptoms, and child adaptive functioning. Generalized estimating equations revealed significant time-by-group interactions favoring the intervention group across several outcomes. Relative to controls, intervention participants reported greater gains in reflective functioning, parenting self-efficacy, and emotional beliefs, alongside improvements in children's communication and conceptual adaptive functioning. Effects were most pronounced among parents of younger children. Within the intervention group, additional follow-up assessments indicated sustained benefits on workshop-specific outcomes. Findings support the feasibility and efficacy of brief, scalable PRF-based programs for caregivers of autistic children. To our knowledge, this is the first randomized trial to demonstrate that a short, online, parent-focused intervention can enhance reflective parenting and promote emotional and relational benefits in this population.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70301","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148378259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Identifying Unique Subgroups of Emotional and Behavioral Presentations in a Large Inpatient and Community Sample of Autistic Youth 在一个大的住院患者和社区自闭症青年样本中识别情感和行为表现的独特亚群。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-26 DOI: 10.1002/aur.70307
Safaa Eldeeb, Jessie Northrup, Caitlin Conner, Shalini Sivathasan, Ligia Antezana, Matthew Siegel, Carla Mazefsky
{"title":"Identifying Unique Subgroups of Emotional and Behavioral Presentations in a Large Inpatient and Community Sample of Autistic Youth","authors":"Safaa Eldeeb,&nbsp;Jessie Northrup,&nbsp;Caitlin Conner,&nbsp;Shalini Sivathasan,&nbsp;Ligia Antezana,&nbsp;Matthew Siegel,&nbsp;Carla Mazefsky","doi":"10.1002/aur.70307","DOIUrl":"10.1002/aur.70307","url":null,"abstract":"<p>Autistic youth exhibit wide variability in emotional and behavioral challenges, yet few studies have identified meaningful subgroups based on these profiles. This study applied a random forests ensemble clustering algorithm to item-level parent-report data from the Emotion Dysregulation Inventory (EDI) and the Child Behavior Checklist (CBCL) in a combined sample of 1311 autistic youth (ages 6–17), drawn from the Autism Inpatient Collection (<i>n</i> = 446) and the Interactive Autism Network (<i>n</i> = 865). Four distinct subgroups emerged: Global High (GH; 22%), characterized by elevated scores across all four subscales (EDI-Reactivity, EDI-Dysphoria, CBCL Internalizing, and CBCL Externalizing); High-Reactivity Dominant (H-RD; 41%), marked primarily by high emotional reactivity; Moderate-Internalizing Dominant (M-ID; 18%), with elevated internalizing scores; and Global Low (GL; 19%), showing uniformly low scores. Feature importance analyses identified EDI-Reactivity and CBCL Aggression items as the strongest drivers of subgroup membership. No significant differences were found across subgroups in age, sex, race, or ethnicity. However, subgroups with greater emotional and behavioral challenges were associated with lower household income, single-parent status, and higher rates of family psychiatric history. These findings suggest that emotional reactivity and aggression severity are key differentiating features among autistic youth, and that sociodemographic and family mental health factors meaningfully shape emotional and behavioral outcomes.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70307","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148341209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Executive Functioning as a Pathway Between Social Skills and Psychopathology: The Moderating Role of Autism Diagnosis 执行功能在社会技能和精神病理之间的通路:自闭症诊断的调节作用。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-26 DOI: 10.1002/aur.70305
Samina I. Ansari, Lucas A. Martin, Kristi C. Guest, Rajesh K. Kana
{"title":"Executive Functioning as a Pathway Between Social Skills and Psychopathology: The Moderating Role of Autism Diagnosis","authors":"Samina I. Ansari,&nbsp;Lucas A. Martin,&nbsp;Kristi C. Guest,&nbsp;Rajesh K. Kana","doi":"10.1002/aur.70305","DOIUrl":"10.1002/aur.70305","url":null,"abstract":"<p>Internalizing and externalizing problems are highly prevalent among children and adolescents, with higher rates observed particularly among those with neurodevelopmental disorders. Previous studies have identified deficits in social competence and executive functioning (EF) as predictive factors of internalizing and externalizing problems, and some studies have indicated that EF mediates this association in autistic individuals. However, the role of EF and social competence across autistic and typically developing (TD) individuals remains underexplored in relation to internalizing and externalizing behaviors. We address this gap by using two moderated mediation analyses assessing the mediating effects of EF in the association between social skills and internalizing and externalizing problems. Poor metacognitive functioning was found to mediate the relationship between social skill deficits and internalizing problems only among autistic children and adolescents, whereas behavior dysregulation mediated the relationship between poor social skills and externalizing problems among both autistic and TD children and adolescents. These mediating effects of EF, however, were not moderated across the two diagnostic groups. These findings highlight the role of different domains of EF, that is, metacognitive functioning and behavior dysregulation in internalizing and externalizing problems, which can help identify early EF-related vulnerabilities and inform EF-based interventions for psychological problems among autistic and TD children and adolescents.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70305","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148341259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Irony Comprehension in Monolingual and Bilingual Children With Autism Spectrum Disorder 自闭症谱系障碍单语和双语儿童的反语理解。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-30 DOI: 10.1002/aur.70299
Maria Andreou, Stella Lampri, Eleni Peristeri
{"title":"Irony Comprehension in Monolingual and Bilingual Children With Autism Spectrum Disorder","authors":"Maria Andreou,&nbsp;Stella Lampri,&nbsp;Eleni Peristeri","doi":"10.1002/aur.70299","DOIUrl":"10.1002/aur.70299","url":null,"abstract":"<p>This study examined verbal irony comprehension in monolingual and bilingual autistic children, focusing on irony recognition, intention understanding, cue use while deciphering ironic meanings, and error patterns. A low-verbal, multimodal task was used to minimize linguistic and metalinguistic demands. Measures of language ability, Theory of Mind (ToM), executive functions, and cue use were included. Results showed that bilingualism did not negatively affect irony comprehension, as bilingual autistic children performed comparably to monolingual autistic children and showed no disadvantage relative to bilingual typically developing peers. Across groups, ironic criticism was understood more accurately than ironic praise. Irony recognition was associated with executive functioning, specifically inhibition. In autistic children, intention understanding was primarily predicted by second order verbal ToM and, to a lesser extent, sentence comprehension. Cue analyses revealed that contextual information and facial expressions were the most frequently used sources of information, whereas facial cues were predominantly used by bilingual autistic children in ironic praise. Prosodic cues were rarely reported across groups. No group differences emerged in error patterns. Overall, the findings indicate that bilingualism is not detrimental to irony comprehension in autism and highlight the importance of socio-cognitive, language, and executive mechanisms in pragmatic processing.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70299","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148354915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Challenging the Developmental Substructure Model for Autism: A Perspective From Causal Statistics 挑战自闭症的发展亚结构模型:一个因果统计的视角。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-18 DOI: 10.1002/aur.70298
Sean McWeeny, Joshua B. Ewen
{"title":"Challenging the Developmental Substructure Model for Autism: A Perspective From Causal Statistics","authors":"Sean McWeeny,&nbsp;Joshua B. Ewen","doi":"10.1002/aur.70298","DOIUrl":"10.1002/aur.70298","url":null,"abstract":"<div>\u0000 \u0000 <p>The extent to which core autism traits—social interaction, communication, and restricted and repetitive behaviors (RRBs)—share a cause or have independent causes (e.g., fractionable triad model) has been a central debate in the field for decades. The latest iteration of this debate has reckoned with molecular genetic evidence that has largely failed to reproduce twin study heritability estimates. Against this backdrop, an alternative to the fractionable triad model—the developmental substructure model—was proposed by Constantino et al. in 2021. This model places a unitary, latent autism variable as the cause of the core phenotype. In the present Commentary, we showed that the developmental substructure model fails empirical tests derived from causal inference. Using published data, we demonstrated that correlations among core phenotype traits are largely the same in population samples as compared to autistic and non-autistic subsamples. Using simulations, we demonstrated that if latent autism were the cause of variance in core phenotype traits, then the correlations among the factors should reduce considerably after conditioning on autism. Although the developmental substructure model is well-reasoned and well-specified, it ultimately does not stand up to empirical evaluation.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148280126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Sex Differences in Psychopathology and Neurocognition in Community Youth With Autism Spectrum Disorder 社区青少年自闭症谱系障碍的精神病理和神经认知的性别差异。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-06-30 DOI: 10.1002/aur.70270
Ran Barzilay, Julia Katz, Rahul Sood, Tyler M. Moore, Monica E. Calkins, Edward S. Brodkin, Ruben C. Gur, Raquel E. Gur
{"title":"Sex Differences in Psychopathology and Neurocognition in Community Youth With Autism Spectrum Disorder","authors":"Ran Barzilay,&nbsp;Julia Katz,&nbsp;Rahul Sood,&nbsp;Tyler M. Moore,&nbsp;Monica E. Calkins,&nbsp;Edward S. Brodkin,&nbsp;Ruben C. Gur,&nbsp;Raquel E. Gur","doi":"10.1002/aur.70270","DOIUrl":"10.1002/aur.70270","url":null,"abstract":"<div>\u0000 \u0000 <p>Autism spectrum disorder (ASD) diagnosis is more common in males than females. To understand sex differences in psychopathology and neurocognitive performance, research systematically comparing males and females with autism spectrum disorder to non-autistic peers is critically needed. We examined sex differences in psychopathology and neurocognitive performance profiles in ASD and typically developing youths from the Philadelphia Neurodevelopment Cohort (PNC), a U.S. community sample ascertained through pediatric (non-mental-health) network. We studied 218 youths with ASD diagnosis (IQ&gt; 70, 171 males, 47 females, mean age 12.3 years), age and sex matched to 872 Non-ASD controls. We compared psychopathology in multiple domains including mood-anxiety, fear (phobias), externalizing and psychosis spectrum symptoms as well as neurocognitive function comparing Social and Non-Social cognitive domains. Repeated-measures mixed models were applied with ASD, sex, and their interaction as fixed factors, and psychopathology and neurocognitive domains as within-group factors. All models controlled for age, socioeconomic status, IQ, and ADHD. Findings indicated sex differences in the associations between ASD and co-occurring psychopathology. Among adolescents with ASD, males exhibited more pronounced fear and mood symptoms than females. Analyses also revealed ASD-related sex differences across neurocognitive domains: performance in Social Cognition was lower in adolescents with ASD compared to non-ASD peers for both sexes, while males with ASD showed greater difficulties in Non-Social Cognition relative to females with ASD. In conclusion, ASD diagnosis is associated with sex differences in psychopathology and neurocognition in early adolescence in a large community sample. Results add to the understanding of sex-specific manifestations of ASD in youth.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148354924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Short Report: An Examination of Children's Autism Traits and Their Association With Family Experience 儿童自闭症特征及其与家庭经历的关系的研究。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-07-07 DOI: 10.1002/aur.70303
Ella C. Brouwer, Melissa Susko, Charee Botha, Amedeo D'Angiulli, Eric Duku, Ana Hanlon-Dearman, Vivian Lee, Elyse Rosa, Lonnie Zwaigenbaum, Teresa Bennett, Yun-Ju Chen, Briano De Rezze, Irene Drmic, Julia Frei, Katholiki Georgiades, Anna Kata, Olaf Kraus De Camargo, Sherry Fournier, Stephen Gentles, Judah Koller, Jonathan Lai, Patrick McPhee, Ronit Mesterman, Caroline Roncadin, Peter Rosenbaum, Deepa Singal, Elisabeth Trinari, Stelios Georgiades, Elizabeth Kelley
{"title":"Short Report: An Examination of Children's Autism Traits and Their Association With Family Experience","authors":"Ella C. Brouwer,&nbsp;Melissa Susko,&nbsp;Charee Botha,&nbsp;Amedeo D'Angiulli,&nbsp;Eric Duku,&nbsp;Ana Hanlon-Dearman,&nbsp;Vivian Lee,&nbsp;Elyse Rosa,&nbsp;Lonnie Zwaigenbaum,&nbsp;Teresa Bennett,&nbsp;Yun-Ju Chen,&nbsp;Briano De Rezze,&nbsp;Irene Drmic,&nbsp;Julia Frei,&nbsp;Katholiki Georgiades,&nbsp;Anna Kata,&nbsp;Olaf Kraus De Camargo,&nbsp;Sherry Fournier,&nbsp;Stephen Gentles,&nbsp;Judah Koller,&nbsp;Jonathan Lai,&nbsp;Patrick McPhee,&nbsp;Ronit Mesterman,&nbsp;Caroline Roncadin,&nbsp;Peter Rosenbaum,&nbsp;Deepa Singal,&nbsp;Elisabeth Trinari,&nbsp;Stelios Georgiades,&nbsp;Elizabeth Kelley","doi":"10.1002/aur.70303","DOIUrl":"10.1002/aur.70303","url":null,"abstract":"<p>The present study examined how the frequency and impact of autism traits were associated with parent-reported family experience, with differential consideration of parental experience and overall family life. Prior research has found an association between autism traits and family functioning; however, less is known about how the impact and frequency of these traits influence family experience. We analyzed data from families of 206 young autistic children (144 boys and 62 girls), aged 2–7, using the Autism Impact Measure (AIM) and the Autism Family Experience Questionnaire (AFEQ). Hierarchical regression analysis showed that the impact of autistic traits was significantly associated with parent experience scores and that the frequency of autistic traits was significantly associated with family life scores in the first-year post-diagnosis. Neither child age nor gender was significantly associated with parent experience or family life. This study highlights the importance of tailoring post-diagnosis family supports to the child's specific features and calls attention to areas for future investigation on this topic, including the exploration of longitudinal trends or demographic factors that may affect parent experience and family life.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70303","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148407118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit 脆性X综合征中单词水平言语模式的异常神经牵引:统计学习缺陷的证据。
IF 3.9 2区 医学
Autism Research Pub Date : 2026-08-13 Epub Date: 2026-07-12 DOI: 10.1002/aur.70312
Laura J. Batterink, Yanchen Liu, Grace Westerkamp, Jae Citarella, Peyton Siekierski, Lynxie Voorhees, Lauren E. Ethridge, Elizabeth Smith, Rana Elmaghraby, Craig A. Erickson, Zag ElSayed, Anubhuti Goel, Steve W. Wu, Ernest V. Pedapati
{"title":"Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit","authors":"Laura J. Batterink,&nbsp;Yanchen Liu,&nbsp;Grace Westerkamp,&nbsp;Jae Citarella,&nbsp;Peyton Siekierski,&nbsp;Lynxie Voorhees,&nbsp;Lauren E. Ethridge,&nbsp;Elizabeth Smith,&nbsp;Rana Elmaghraby,&nbsp;Craig A. Erickson,&nbsp;Zag ElSayed,&nbsp;Anubhuti Goel,&nbsp;Steve W. Wu,&nbsp;Ernest V. Pedapati","doi":"10.1002/aur.70312","DOIUrl":"10.1002/aur.70312","url":null,"abstract":"<p>Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, causes significant language and cognitive impairments. Statistical learning refers to the ability to extract patterns from sensory input through mere exposure and plays a central role in language acquisition. Surprisingly, statistical learning in FXS has not been explored. Given that children with FXS typically follow a delayed developmental trajectory for language, we hypothesized that they would show impaired statistical learning. To test this hypothesis, we used an EEG measure of neural entrainment to index statistical learning of hidden trisyllabic words within a continuous speech stream in children with FXS (<i>n</i> = 17) and in typically developing controls (<i>n</i> = 31). Children with FXS showed significantly reduced neural entrainment to words compared to controls, particularly in the superior temporal gyrus and transverse temporal gyrus (primary auditory cortex), providing evidence of statistical learning impairment. Notably, syllable-level entrainment was preserved or even enhanced in FXS, indicating that word-level deficits cannot be attributed to general auditory processing impairments. In addition, while typically developing controls showed an increase in word-level entrainment over the course of learning, children with FXS failed to show a similar increase over time. Taken together, this pattern of results demonstrates that children with FXS can process rapid, lower-order acoustic structure but struggle to integrate these syllables into longer, chunk-like word representations. Overall, these findings suggest that statistical learning is impaired in FXS and also suggest neural entrainment to statistical structure as a potential therapeutic target.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"19 8","pages":""},"PeriodicalIF":3.9,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70312","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148431631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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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