Autism Research最新文献

{"title":"The Language ENvironment Analysis (LENA) System in Toddlers With Early Indicators of Autism: Test–Retest Reliability and Convergent Validity With Clinical Language Assessments","authors":"Nicole Nadwodny,&nbsp;Paul J. Yoder,&nbsp;Brooke R. Ingersoll,&nbsp;Allison L. Wainer,&nbsp;Wendy L. Stone,&nbsp;Abbey Eisenhower,&nbsp;Alice S. Carter,&nbsp;The RISE Research Network","doi":"10.1002/aur.70062","DOIUrl":"10.1002/aur.70062","url":null,"abstract":"<p>Clinical language assessments often influence the types of services that autistic children are eligible to receive. However, these assessments often take place outside of the child's natural language environment. In this study, we assess the potential of using naturalistic language processing technology, the Language ENvironment Analysis (LENA) system, in clinical research. Within a sample of caregivers and autistic toddlers aged 16–33 months (<i>N</i> = 100), the current study examined associations between all LENA-generated variables and two clinical assessments of language: the Vineland Adaptive Behavior Scales, Third Edition: Communication Domain and the MacArthur Bates Communicative Development Inventories: Vocabulary Checklist. We also evaluated LENA test–retest reliability in a subsample of participants (<i>n</i> = 81). Some LENA-generated variables—specifically, the Conversational Turn Count, Vocal Productivity, and Automated Vocalization Assessment—exhibited small-to-moderate significant positive correlations with clinical language assessment variables. Additionally, all LENA-generated variables demonstrated moderate-to-good test–retest reliability within a 2-week period. To our knowledge, this is the first study that examines the psychometric properties of all LENA-generated variables in a single large sample. Findings show promising evidence of LENA's utility as a source of naturalistic language data for research with autistic toddlers.</p><p><b>Trial Registration:</b> ClinicalTrials.gov identifier: NCT05114538 (“Improving the Part C Early Intervention Service Delivery System for Children with ASD”)</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 8","pages":"1568-1579"},"PeriodicalIF":5.6,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70062","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200912","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}

{"title":"Sleep–Wake Cycle and Circadian Misalignment in People With Autism Across the Lifespan With an Emphasis on Living Conditions","authors":"Elena Martínez-Cayuelas,&nbsp;Ana María García-Muñoz,&nbsp;María Luisa Sánchez de Ocaña-Moreno,&nbsp;Amanda L. Richdale,&nbsp;Laura Gisbert-Gustemps,&nbsp;Jorge Lugo-Marín,&nbsp;Beatriz Rodríguez-Morillas,&nbsp;Ana María Peiró-Peiró,&nbsp;Desirée Victoria-Montesinos,&nbsp;Cristina López-Anguas,&nbsp;María Dolores Meseguer-Illán,&nbsp;Pura Ballester-Navarro","doi":"10.1002/aur.70058","DOIUrl":"10.1002/aur.70058","url":null,"abstract":"<div>\u0000 \u0000 <p>Sleep problems among individuals with autism spectrum disorder (ASD) are a persistent issue that spans from early childhood to adulthood. The present study aimed to objectively investigate sleep continuity and alignment using ambulatory circadian monitoring (ACM) in a group of autistic individuals, with and without intellectual disabilities. We studied 214 participants. Sleep continuity and alignment were assessed using a minimum of 3 days of ACM. Participants were divided into four groups: (1) age &lt; 10 years (<i>n</i> = 40, 87.5% males, M = 6.78 ± 1.40 years), (2) age 10–17 years (<i>n</i> = 53, 90.6% males, M = 12.62 ± 2.04 years), (3) age 18–27 years (<i>n</i> = 59, 74.6% males, M = 23.50 ± 2.60 years), and (4) age 28–65 years (<i>n</i> = 62, 74.2% males, M = 39.04 ± 9.49 years). All groups had significantly impaired sleep outcomes, except for TST. Adults had longer SOL and WASO duration, than children and adolescents. However, those differences were attenuated if participants ‘percentages of sleep parameters within normal range’ were compared. When evaluating circadian misalignment, sleep M5 is delayed in children and adolescents (2:56 am and 3:00 am, respectively), and strongly advanced in the older adults (group 4). Sleep problems that manifest in autism during childhood can endure throughout adulthood. Furthermore, there is a necessity to investigate how living conditions, such as enforced schedules in residential facilities, can influence the timing of the sleep midpoint.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1369-1380"},"PeriodicalIF":5.3,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200911","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}

{"title":"Identifying Daily Living Skills From Childhood and Adolescence Predictive of Adult Outcomes in a Longitudinal Study of Autism and Related Developmental Conditions","authors":"Elaine B. Clarke,&nbsp;Catherine Lord","doi":"10.1002/aur.70056","DOIUrl":"10.1002/aur.70056","url":null,"abstract":"<p>Challenges in daily living skills (DLS) are well-documented in autism and other developmental conditions. Research has also cataloged challenges in adult outcome attainment among autistic individuals and those with other developmental conditions; stronger DLS are associated with a higher likelihood of attaining some adult outcomes. Little work has examined whether competency in <i>specific</i> DLS increases the likelihood of attaining adult outcomes. The current study examined mean item set scores from the DLS domain of the first and second editions of the Vineland Adaptive Behavior Scales (VABS) in a sample (<i>n</i> = 230) drawn from a well-characterized longitudinal cohort. Differences in growth patterns in DLS item set scores based on cognitive ability were examined from ages 5–18. The utility of DLS item set scores from ages 5, 9, 14, and 18 for predicting adult employment, relationship, living, and well-being outcomes at approximately age 33 was then tested. For all participants, DLS item sets from the community subdomain (i.e., eating out skills, pre-job skills) were low throughout childhood and showed the least growth over time. For participants with IQ &lt; 70, personal subdomain item sets (i.e., bathing, health) had the most predictive utility. For participants with IQ &gt; 70, community subdomain item sets had the most predictive utility. Competency in personal DLS may promote positive outcomes for autistic individuals with IQ &lt; 70; competency in community DLS may be more important to supporting outcomes for autistic individuals with average or higher IQ. These results could inform interventions intended to promote adult success.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1474-1488"},"PeriodicalIF":5.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192545","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}

{"title":"Maternal Touch During Mother–Infant Interactions in Infants With and Without an Elevated Likelihood for Autism: Links With Symptom-Level Difficulties of Maternal Psychological Stress","authors":"J. Siew,&nbsp;P. Warreyn,&nbsp;F. Moerman,&nbsp;T. Van Lierde,&nbsp;A. Zanatta,&nbsp;H. Roeyers","doi":"10.1002/aur.70067","DOIUrl":"10.1002/aur.70067","url":null,"abstract":"<div>\u0000 \u0000 <p>Infants at elevated likelihood for autism (EL infants) have varied developmental outcomes. This exposes parents to a unique parenting journey, and in some, heightened psychological stress. This study investigated how maternal psychological stress is linked to variations in mother–infant interactions, specifically touch. We focused on mothers of EL infants, including infants with an older autistic sibling and infants born preterm (&lt; 30 weeks), as well as mothers of infants at typical likelihood for autism (TL infants). At 10 months, maternal touch was coded during mother–infant interactions (<i>n</i> = 100) and psychological stress was measured using the Brief Symptom Inventory (<i>n</i> = 108). Results showed that mothers of sibling infants (<i>n</i> = 44) reported higher depressive symptoms compared to mothers of TL infants (<i>n</i> = 22). Mothers of preterm infants (<i>n</i> = 39) used less affectionate and caregiving touch and had shorter total touch duration, compared to mothers of TL infants (<i>n</i> = 20), and to a lesser extent, mothers of sibling infants (<i>n</i> = 41). In addition, mothers of sibling infants exhibited more high-intensity touch than both mothers of preterm and TL infants. Notably, increased depressive symptoms were associated with decreased touch duration in mothers of sibling (<i>n</i> = 41) and preterm infants (<i>n</i> = 39) only. These findings underscore the complex relationship between maternal depressive symptoms and maternal use of touch.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1461-1473"},"PeriodicalIF":5.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181336","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}

{"title":"Developing Inner Speech to Help Autistic Individuals Improve Their Self-Regulation Ability: A Pilot Randomized-Controlled Trial","authors":"Barbara L. Baumann,&nbsp;Janice Nathan,&nbsp;Barry R. Nathan,&nbsp;Miriam Sheynblyum,&nbsp;Valire Carr Copeland,&nbsp;Carla A. Mazefsky,&nbsp;Shaun M. Eack","doi":"10.1002/aur.70053","DOIUrl":"10.1002/aur.70053","url":null,"abstract":"<div>\u0000 \u0000 <p>Some autistic children often have difficulty regulating their emotions. This pilot study evaluated the effectiveness of an intervention to reduce emotional dysregulation by developing inner speech in autistic children. The therapy is called Thinking in Speech (TiS). Nine certified speech-language pathologists were trained remotely. They, in turn, remotely administered TiS to 22 autistic children. Participating children were randomly assigned to either a therapy immediate or a waitlist control condition. Both groups received sixteen 30-min therapy sessions over 8–10 weeks. Parents rated the amount of emotional dysregulation on three measures before the intervention and after the sixteen 30-min therapy sessions. Results showed significant results on the Emotion Dysregulation Inventory-Dysphoria Scale (<i>F</i> = 5.49, <i>n</i> = 11, <i>p</i> = 0.008), and marginally significant results on the Emotion Dysregulation Inventory Index Regulation Index-Reactivity Scale (<i>F</i> = 2.57, <i>n</i> = 11, <i>p</i> = 0.089). Such findings suggest a potential impact of developing inner speech to reduce emotion dysregulation in autistic children.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1489-1496"},"PeriodicalIF":5.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192544","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}

{"title":"Prospective Memory Performance of Autistic Adults in Everyday Life: The Role of Stress and Motivation","authors":"Larissa L. Faustmann,&nbsp;Mareike Altgassen","doi":"10.1002/aur.70057","DOIUrl":"10.1002/aur.70057","url":null,"abstract":"<p>Prospective memory (PM) is the ability to remember to carry out intended actions in the future. The present study investigated the PM performance of autistic adults in everyday life. A total of 29 autistic participants and 30 controls matched for age, gender, and cognitive abilities completed various PM tasks (time-based vs. event-based; externally-assigned vs. self-assigned), integrated into a three-day Experience Sampling Method (ESM) assessment. The ESM survey assessed other activities performed during the 3 days, participants' motivation, daily routine, and perceived daily-life stress. No group differences were found between autistic and control participants in any of the various PM tasks. Autistic participants did not differ from control participants in the types of everyday activities performed or in motivation, but showed higher levels of perceived stress. This is the first study to investigate PM performance of autistic individuals in everyday life. The results suggest that autistic adults show no PM difficulties in naturalistic PM tasks.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1447-1460"},"PeriodicalIF":5.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176066","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}

{"title":"Changes in Early Aperiodic EEG Activity Are Linked to Autism Diagnosis and Language Development in Infants With Family History of Autism","authors":"Carol L. Wilkinson,&nbsp;Haerin Chung,&nbsp;Amy Dave,&nbsp;Helen Tager-Flusberg,&nbsp;Charles A. Nelson","doi":"10.1002/aur.70063","DOIUrl":"10.1002/aur.70063","url":null,"abstract":"<div>\u0000 \u0000 <p>Delays in language often co-occur among toddlers diagnosed with autism. Despite the high prevalence of language delays, the neurobiology underlying such language challenges remains unclear. Prior research has shown reduced EEG power across multiple frequency bands in 3-to-6-month-old infants with an autistic sibling, followed by accelerated increases in power with age. In this study, we decompose the power spectra into aperiodic (broad band neural firing) and periodic (oscillations) activity to explore possible links between aperiodic changes in the first year of life and later language outcomes. Combining EEG data across two longitudinal studies of infants with and without autistic siblings, we assessed whether infants with an elevated familial likelihood (EFL) exhibit altered changes in both periodic and aperiodic EEG activity at 3 and 12 months of age, compared to those with a low likelihood (LL), and whether developmental change in activity is associated with language development. At 3 months of age (<i>n</i> = LL 59, EFL 57), we observed that EFL infants have significantly lower aperiodic activity from 6.7 to 55 Hz (<i>p</i> &lt; 0.05). However, change in aperiodic activity from 3 to 12 months was significantly increased in infants with a later diagnosis of autism, compared to EFL infants without an autism diagnosis (<i>n</i> = LL-NoASD 41, EFL-noASD 16, EFL-ASD 16). In addition, greater increases in aperiodic offset and slope from 3 to 12 months were associated with worse language development measured at 18 months (<i>n</i> = 24). Findings suggest that early age-dependent changes in EEG aperiodic power may serve as potential indicators of autism and language development in infants with a family history of autism.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1356-1368"},"PeriodicalIF":5.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152984","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}

{"title":"Factor Structure and Psychometric Properties of the Child Social Preference Scale-3 in Children With Autism","authors":"Lacey Chetcuti,&nbsp;Antonio Y. Hardan,&nbsp;Emily Spackman,&nbsp;Emma Baker,&nbsp;Thomas W. Frazier,&nbsp;Mirko Uljarevic","doi":"10.1002/aur.70059","DOIUrl":"10.1002/aur.70059","url":null,"abstract":"<div>\u0000 \u0000 <p>Considerable variability in social engagement among individuals with autism is well documented. Since multiple processes may contribute to this heterogeneity, validating tools to assess these differences is crucial. Originally developed in the general population, the Child Social Preference Scale (CSPS-3) aims to assess distinct forms of social disengagement arising from different combinations of approach and avoidance motivations and holds promise for delineating variability in social behaviors within autism spectrum disorder (ASD). This study investigated the factor structure and psychometric properties of the CSPS-3 in a sample of 689 children diagnosed with autism (Mage = 11.23, SD = 3.56; 76% male). The results suggest that a bifactor model, consisting of a general factor and three subscales (shyness, unsociability, and social avoidance), provided the best fit to the data, with the general factor accounting for most of the variance. While the subscales demonstrated adequate internal consistency, their construct reliability and stability varied, with much of the reliable variance attributed to the general factor. The structure was consistent across age and sex subgroups, and the subscales showed distinct patterns of associations with key clinical correlates. These findings support the CSPS-3's utility in assessing diverse forms of social disengagement in the autism population, while indicating that the subscales could be refined to better capture their unique aspects.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1389-1396"},"PeriodicalIF":5.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144635","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}

{"title":"Feedback-Driven Learning Through Eye Movements in Autism Spectrum Disorder","authors":"Ian Simpson,&nbsp;David Saldaña,&nbsp;Mila Vulchanova,&nbsp;Maria Luisa Scattoni,&nbsp;Martina Micai","doi":"10.1002/aur.70060","DOIUrl":"10.1002/aur.70060","url":null,"abstract":"<div>\u0000 \u0000 <p>Individuals with Autism Spectrum Disorder (ASD) face challenges in cognitive flexibility and rule-shifting. This study investigated a computerized Wisconsin Card Sorting Task (WCST) paired with eye-tracking to understand the cognitive dynamics of set-shifting difficulties in autistic children and adolescents. The study included 21 Spanish-speaking autistic children and adolescents (mean age: 14.5 years) and 22 typically developing peers (mean age: 15.1), matched by gender, age, language, working memory, and intelligence. Participants sorted cards by number, color, or shape, receiving feedback after each trial. The sorting criterion changed after 10 correct responses without participants' prior knowledge. The task included 128 trials, followed by three strategy-related verbal questions. Behavioral and eye movement data showed that the autistic group performed worse, completing fewer sets and making more errors. Both groups had increased fixations and dwell time after feedback, but controls had a greater increase after incorrect responses. Autistic individuals may struggle with error monitoring and response inhibition, impacting their adaptability and less efficient learning of sorting rules. They engaged less in error analysis and correction than controls. Targeted interventions to enhance feedback processing and adaptive learning strategies could benefit autistic individuals. Future research should explore mechanisms behind eye-movement differences and the effectiveness of related interventions.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 7","pages":"1431-1446"},"PeriodicalIF":5.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144637","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}

{"title":"Introduction to the Special Section on the Genetics of Autism","authors":"Genevieve Konopka","doi":"10.1002/aur.70064","DOIUrl":"10.1002/aur.70064","url":null,"abstract":"&lt;p&gt;Genetic contributions to the etiology of autism have long been recognized in autism research. However, many aspects of how genetic and genomic factors influence the development and progression of autism remain poorly understood and require further investigation. A wide range of approaches can be employed in this pursuit, including studies of human cohorts, model systems, and detailed mechanistic research at both cellular and organismal levels. To broaden the scope of studies published in &lt;i&gt;Autism Research&lt;/i&gt; related to the genetics of autism, we issued a call for manuscripts to be included in a special issue. Here, we present six comprehensive studies that utilize diverse approaches to investigate the genetic mechanisms underlying autism. Two of these studies (Arutiunian et al. &lt;span&gt;2025&lt;/span&gt;; Hudac et al. &lt;span&gt;2025&lt;/span&gt;) focused primarily on human subjects. One of them (Hudac et al. &lt;span&gt;2025&lt;/span&gt;) examined visual and auditory attention in autistic individuals with monogenic forms of autism—carrying variants in either &lt;i&gt;DYRK1A&lt;/i&gt; or &lt;i&gt;SCN2A&lt;/i&gt;—using eye tracking and electroencephalography (EEG). They found distinct behavioral outcomes depending on the specific genetic variant. The other study (Arutiunian et al. &lt;span&gt;2025&lt;/span&gt;) investigated a separate cohort of autistic individuals with a particular single nucleotide polymorphism in &lt;i&gt;CNTNAP2&lt;/i&gt;, identifying an association with language impairments. Three manuscripts (He et al. &lt;span&gt;2025&lt;/span&gt;; Nishizaki et al. &lt;span&gt;2025&lt;/span&gt;; Rojas et al. &lt;span&gt;2025&lt;/span&gt;) combined research in both human subjects and model systems. One study (He et al. &lt;span&gt;2025&lt;/span&gt;) discovered novel de novo variants in &lt;i&gt;NAA15&lt;/i&gt; associated with autism and conducted detailed studies in loss-of-function mouse models, revealing a role for NAA15 in early brain development. Another study (Nishizaki et al. &lt;span&gt;2025&lt;/span&gt;) identified new genes associated with autism spectrum disorder with disproportionate megalencephaly (ASD-DM) in human cohorts and explored the function of one of these genes, &lt;i&gt;YTHDF2&lt;/i&gt;, in zebrafish models. Their findings showed changes in brain size and gene expression patterns consistent with the observed phenotypes. The third manuscript (Rojas et al. &lt;span&gt;2025&lt;/span&gt;) reported altered levels of mitochondrial DNA (mtDNA) in individuals with autism and used cell lines to investigate the role of specific genes involved in mtDNA replication, although no direct correlation was found between gene expression and mtDNA levels. Finally, one other report (Co et al. &lt;span&gt;2025&lt;/span&gt;) characterized the functional implications of a specific mouse genetic tool related to the high-confidence autism gene &lt;i&gt;TBR1&lt;/i&gt;. They found that this mouse line, while originally designed for another purpose, inadvertently provides a valuable model for studying &lt;i&gt;TBR1&lt;/i&gt; dosage effects on brain development. Collectively, these studies highlight the diverse genetic approaches being used to advance ","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 5","pages":"896-897"},"PeriodicalIF":5.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129656","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}