Shuhei Terada, Shoji F. Nakayama, Takeo Fujiwara, The Japan Environment and Children's Study Group
Relative maternal poverty is a suggested social determinant of autism spectrum disorders (ASDs) in offspring; however, this association may be confounded by the maternal broader autism phenotype (BAP). The biological mechanisms underlying this association are largely understudied. We examined the association between household income during pregnancy and ASDs in offspring, adjusting for confounders including maternal BAP, and explored whether maternal chronic stress, measured by allostatic load (AL) during pregnancy, mediates this association. Data on 59,998 mother–child dyads were obtained from the Japan Environment and Children's Study, a nationwide birth cohort. Household income was categorized into tertiles (< 4 million, 4–6 million, > 6 million JPY) and offspring ASD diagnosis by age four was assessed via guardian's report. Bayesian logistic regression models indicated that mothers from low- and middle-income households had a 58% (95% credible interval [CI]: 28%–98%) and a 37% (95% CI: 12%–70%) higher risk of offspring ASDs, respectively, compared to those from high-income households. AL, defined as three or more out of 10 biomarkers in the highest risk quartile, did not mediate these associations. Low and middle household income during pregnancy was associated with a higher risk of ASD diagnosis, and high AL did not mediate this association.
{"title":"Household Income, Maternal Allostatic Load During Pregnancy, and Offspring With Autism Spectrum Disorders","authors":"Shuhei Terada, Shoji F. Nakayama, Takeo Fujiwara, The Japan Environment and Children's Study Group","doi":"10.1002/aur.70022","DOIUrl":"10.1002/aur.70022","url":null,"abstract":"<p>Relative maternal poverty is a suggested social determinant of autism spectrum disorders (ASDs) in offspring; however, this association may be confounded by the maternal broader autism phenotype (BAP). The biological mechanisms underlying this association are largely understudied. We examined the association between household income during pregnancy and ASDs in offspring, adjusting for confounders including maternal BAP, and explored whether maternal chronic stress, measured by allostatic load (AL) during pregnancy, mediates this association. Data on 59,998 mother–child dyads were obtained from the Japan Environment and Children's Study, a nationwide birth cohort. Household income was categorized into tertiles (< 4 million, 4–6 million, > 6 million JPY) and offspring ASD diagnosis by age four was assessed via guardian's report. Bayesian logistic regression models indicated that mothers from low- and middle-income households had a 58% (95% credible interval [CI]: 28%–98%) and a 37% (95% CI: 12%–70%) higher risk of offspring ASDs, respectively, compared to those from high-income households. AL, defined as three or more out of 10 biomarkers in the highest risk quartile, did not mediate these associations. Low and middle household income during pregnancy was associated with a higher risk of ASD diagnosis, and high AL did not mediate this association.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"881-890"},"PeriodicalIF":5.3,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694630","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}
Michele E. Villalobos, Giacomo Vivanti, Subhashini Jayanath, Kimberly Carpenter, Mark D. Shen, Frederick Shic, Jill Locke
The International Society for Autism Research (INSAR) was established in 2001 with the purpose of providing researchers in the field of autism a specific venue to enhance the quality of multidisciplinary research and elevate the field among the sciences. The autism field and size of the society has now expanded greatly to include over 5000 members, 29% of whom identify as early career researchers. In 2016, a survey was conducted with these early career researchers to identify existing supports and areas of need necessary for a successful and sustained autism research career. Results clearly identified three areas of need: (1) networking opportunities with “change makers,” including funding agencies, journal editors, and senior autism researchers; (2) ensuring early career researchers in the autism research field were diverse and representative of the world; and (3) support from senior researchers to help early career researchers secure their first independent grant and move through promotion. The INSAR Early Career Committee (ECC) was established and developed three initiatives to address the aforementioned gaps: Research Rapid Rounds, the Global Representatives Initiative Pilot (GRIP), and the Mentoring Initiative. The ECC has successfully connected over 34 early career researchers and 40 students/trainees to mentors in 19 unique countries through networking programs and events and has established representatives in seven different countries outside the US and UK. These initiatives are a step towards supporting early career academics in the autism field and bring together autism researchers from around the world to share their work and create professional collaborations to forge our field forward.
{"title":"Identifying and Responding to Gaps in the Academic Research Pipeline: Findings From the International Society for Autism Research (INSAR) Early Career Committee","authors":"Michele E. Villalobos, Giacomo Vivanti, Subhashini Jayanath, Kimberly Carpenter, Mark D. Shen, Frederick Shic, Jill Locke","doi":"10.1002/aur.70028","DOIUrl":"10.1002/aur.70028","url":null,"abstract":"<p>The International Society for Autism Research (INSAR) was established in 2001 with the purpose of providing researchers in the field of autism a specific venue to enhance the quality of multidisciplinary research and elevate the field among the sciences. The autism field and size of the society has now expanded greatly to include over 5000 members, 29% of whom identify as early career researchers. In 2016, a survey was conducted with these early career researchers to identify existing supports and areas of need necessary for a successful and sustained autism research career. Results clearly identified three areas of need: (1) networking opportunities with “change makers,” including funding agencies, journal editors, and senior autism researchers; (2) ensuring early career researchers in the autism research field were diverse and representative of the world; and (3) support from senior researchers to help early career researchers secure their first independent grant and move through promotion. The INSAR Early Career Committee (ECC) was established and developed three initiatives to address the aforementioned gaps: Research Rapid Rounds, the Global Representatives Initiative Pilot (GRIP), and the Mentoring Initiative. The ECC has successfully connected over 34 early career researchers and 40 students/trainees to mentors in 19 unique countries through networking programs and events and has established representatives in seven different countries outside the US and UK. These initiatives are a step towards supporting early career academics in the autism field and bring together autism researchers from around the world to share their work and create professional collaborations to forge our field forward.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"717-724"},"PeriodicalIF":5.3,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694083","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}
Doesjka A. Hagenaar, Sabine E. Mous, Leontine W. ten Hoopen, André B. Rietman, Kamil R. Hiralal, Karen G. C. B. Bindels-de Heus, Pieter F. A. de Nijs, Theresa C. Mohr, Eline J. Lens, Manon H. J. Hillegers, Henriette A. Moll, Marie-Claire Y. de Wit, Gwen C. Dieleman
Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. We aim to investigate autistic traits, the effect of age on these traits, and associated features in AS children. This (partly) longitudinal clinical record study at the ENCORE Expertise Center involved 107 AS children aged 2–18 with one (N = 107), two (N = 49), or three (N = 14) measurements. Autistic traits and sensory processing issues were assessed using various instruments, and DSM classifications were used descriptively. Covariates were genotype, gender, and epilepsy. Results indicate a high prevalence of autistic traits and sensory processing issues. Children with the deletion genotype exhibited more autistic traits. Autism Diagnostic Observation Schedule (ADOS) classifications indicated higher rates of ASD compared to clinician DSM classifications. Autistic traits generally remained stable over time, except that ADOS scores significantly decreased for children with the UBE3A mutation genotype, and in the social affect domain for the entire group. In conclusion, incorporating the assessment of autistic traits and sensory processing into clinical practice for AS is important to inform adaptations of the environment to meet the child’s needs. Additionally, clinicians and researchers should be mindful of the potential for overestimating ASD traits in AS when relying on the ADOS. ASD diagnosis in AS should integrate multiple diagnostic instruments, diverse hetero-anamnestic sources, and multidisciplinary expert opinions.
{"title":"Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome","authors":"Doesjka A. Hagenaar, Sabine E. Mous, Leontine W. ten Hoopen, André B. Rietman, Kamil R. Hiralal, Karen G. C. B. Bindels-de Heus, Pieter F. A. de Nijs, Theresa C. Mohr, Eline J. Lens, Manon H. J. Hillegers, Henriette A. Moll, Marie-Claire Y. de Wit, Gwen C. Dieleman","doi":"10.1002/aur.70017","DOIUrl":"10.1002/aur.70017","url":null,"abstract":"<p>Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. We aim to investigate autistic traits, the effect of age on these traits, and associated features in AS children. This (partly) longitudinal clinical record study at the ENCORE Expertise Center involved 107 AS children aged 2–18 with one (<i>N</i> = 107), two (<i>N</i> = 49), or three (<i>N</i> = 14) measurements. Autistic traits and sensory processing issues were assessed using various instruments, and DSM classifications were used descriptively. Covariates were genotype, gender, and epilepsy. Results indicate a high prevalence of autistic traits and sensory processing issues. Children with the deletion genotype exhibited more autistic traits. Autism Diagnostic Observation Schedule (ADOS) classifications indicated higher rates of ASD compared to clinician DSM classifications. Autistic traits generally remained stable over time, except that ADOS scores significantly decreased for children with the <i>UBE3A</i> mutation genotype, and in the social affect domain for the entire group. In conclusion, incorporating the assessment of autistic traits and sensory processing into clinical practice for AS is important to inform adaptations of the environment to meet the child’s needs. Additionally, clinicians and researchers should be mindful of the potential for overestimating ASD traits in AS when relying on the ADOS. ASD diagnosis in AS should integrate multiple diagnostic instruments, diverse hetero-anamnestic sources, and multidisciplinary expert opinions.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"870-880"},"PeriodicalIF":5.3,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671888","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}
Hang Qu, Jingying Wang, Desirae J. Shirley, Hanna M. Gemmell, Danielle Christensen, Ann-Marie Orlando, Regilda A. Romero, Brandon A. Zielinski, Zheng Wang
Postural control deviations remain largely unexplored in middle aged and older autistic adults. With the increased prevalence of neurodegenerative conditions and heightened fall risk, precise quantification of postural variability and coordination may provide valuable insights into aging associated neuromotor deviations in autistic adults. Forty-seven autistic and 48 non-autistic individuals completed static stance, anterior–posterior (AP), and mediolateral (ML) postural sway on a force platform. Center of pressure (COP) metrics were derived and interpreted using ANCOVAs for between-group comparisons and multilinear regressions for group age interaction. Correlations between clinical measures and COP variables that differentiated groups were explored. Compared to non-autistic individuals, autistic adults exhibited greater COP standard deviation (COPSD) and COP trajectory length during static stance and demonstrated significant COPSD-AP reductions in older age. Autistic adults also exhibited decreased COP range of motion (ROM) but increased ROM variability in the target direction during dynamic stance. Autistic adults' postural sway was jerkier during dynamic stance, and increased ROM variability during dynamic AP sway was moderately associated with lower verbal IQ in autistic adults. Our findings highlight persistent postural control deviations in middle aged and older autistic adults. Static and dynamic stance are differentially associated with unique profiles of postural control in ASD. Specifically, autistic adults demonstrated pronounced increases in postural sway variability during static stance, while reducing coordination during dynamic conditions. The extent to which postural control deviations found in autistic adults are predictive to the onset of neurodegenerative conditions and the severity of falls warrants future longitudinal research.
{"title":"Atypical Postural Control Variability and Coordination Persist Into Middle and Older Adulthood in Autism Spectrum Disorder","authors":"Hang Qu, Jingying Wang, Desirae J. Shirley, Hanna M. Gemmell, Danielle Christensen, Ann-Marie Orlando, Regilda A. Romero, Brandon A. Zielinski, Zheng Wang","doi":"10.1002/aur.70024","DOIUrl":"10.1002/aur.70024","url":null,"abstract":"<p>Postural control deviations remain largely unexplored in middle aged and older autistic adults. With the increased prevalence of neurodegenerative conditions and heightened fall risk, precise quantification of postural variability and coordination may provide valuable insights into aging associated neuromotor deviations in autistic adults. Forty-seven autistic and 48 non-autistic individuals completed static stance, anterior–posterior (AP), and mediolateral (ML) postural sway on a force platform. Center of pressure (COP) metrics were derived and interpreted using ANCOVAs for between-group comparisons and multilinear regressions for group <span></span><math>\u0000 \u0000 <semantics>\u0000 \u0000 <mrow>\u0000 \u0000 <mo>×</mo>\u0000 </mrow>\u0000 </semantics>\u0000 </math> age interaction. Correlations between clinical measures and COP variables that differentiated groups were explored. Compared to non-autistic individuals, autistic adults exhibited greater COP standard deviation (COP<sub>SD</sub>) and COP trajectory length during static stance and demonstrated significant COP<sub>SD-AP</sub> reductions in older age. Autistic adults also exhibited decreased COP range of motion (ROM) but increased ROM variability in the target direction during dynamic stance. Autistic adults' postural sway was jerkier during dynamic stance, and increased ROM variability during dynamic AP sway was moderately associated with lower verbal IQ in autistic adults. Our findings highlight persistent postural control deviations in middle aged and older autistic adults. Static and dynamic stance are differentially associated with unique profiles of postural control in ASD. Specifically, autistic adults demonstrated pronounced increases in postural sway variability during static stance, while reducing coordination during dynamic conditions. The extent to which postural control deviations found in autistic adults are predictive to the onset of neurodegenerative conditions and the severity of falls warrants future longitudinal research.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"752-764"},"PeriodicalIF":5.3,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659776","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}
Vishnu Priya Mohanakumar Sindhu, Amanda Brignell, Mia Moses, Kathryn Kallady, Mark A. Bellgrove, Beth P. Johnson
Language screening tools are frequently used to identify children with potential undiagnosed language difficulties. These difficulties are more prevalent in autistic children and those with attention deficit hyperactivity disorder (ADHD) compared to neurotypical peers. Despite the widespread use of tools like the Clinical Evaluation of Language Fundamentals, Fifth Edition Screening Test (CELF-5 Screener) and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), their sensitivity and specificity for this population have not been empirically validated. This study aimed to evaluate the screening accuracy of the CELF-5 Screener and Vineland-3 in children diagnosed with autism and/or ADHD and compare their performance to the gold standard measure. The sample consisted of 132 participants (nautism = 25; nADHD = 29, and nautism+ADHD = 78; Mage in years = 9.6; % male = 59) from the Monash Autism-ADHD Genetics and Neurodevelopment Project. The sensitivity, specificity, positive predictive value, and negative predictive value of the CELF-5 Screener and Vineland-3 receptive and expressive language subdomain scores were compared against those of the clinician-administered CELF-5 receptive and expressive language composite scores. The screening accuracy of each tool was further evaluated through Receiver Operating Characteristic analyses and calculations of Youden's J statistic. The CELF-5 Screener demonstrated poor sensitivity for receptive language difficulties (35.6%) while demonstrating high specificity (95.3%). Similarly, for expressive language difficulties, the sensitivity was low (37.9%), and the specificity was high (91.1%). The Vineland-3 showed high sensitivity (93.3%) but low specificity (48%) for expressive language difficulties and inadequate sensitivity (80.9%) and specificity (22.4%) for receptive language difficulties. Both the CELF-5 Screener and Vineland-3 may miss a significant number of children with co-occurring language difficulties related to autism and/or ADHD. Examiners must understand these tools' strengths and limitations, especially when assessing neurodivergent children whose language development might not follow a normative trajectory.
{"title":"Evaluating the CELF-5 Screening Test and Vineland-3 for Identifying Language Difficulties in Autism and Attention Deficit Hyperactivity Disorder","authors":"Vishnu Priya Mohanakumar Sindhu, Amanda Brignell, Mia Moses, Kathryn Kallady, Mark A. Bellgrove, Beth P. Johnson","doi":"10.1002/aur.70021","DOIUrl":"10.1002/aur.70021","url":null,"abstract":"<div>\u0000 \u0000 <p>Language screening tools are frequently used to identify children with potential undiagnosed language difficulties. These difficulties are more prevalent in autistic children and those with attention deficit hyperactivity disorder (ADHD) compared to neurotypical peers. Despite the widespread use of tools like the Clinical Evaluation of Language Fundamentals, Fifth Edition Screening Test (CELF-5 Screener) and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), their sensitivity and specificity for this population have not been empirically validated. This study aimed to evaluate the screening accuracy of the CELF-5 Screener and Vineland-3 in children diagnosed with autism and/or ADHD and compare their performance to the gold standard measure. The sample consisted of 132 participants (<i>n</i>\u0000 <sub>autism</sub> = 25; <i>n</i>\u0000 <sub>ADHD</sub> = 29, and <i>n</i>\u0000 <sub>autism+ADHD</sub> = 78; <i>M</i>\u0000 <sub>age in years</sub> = 9.6; % male = 59) from the Monash Autism-ADHD Genetics and Neurodevelopment Project. The sensitivity, specificity, positive predictive value, and negative predictive value of the CELF-5 Screener and Vineland-3 receptive and expressive language subdomain scores were compared against those of the clinician-administered CELF-5 receptive and expressive language composite scores. The screening accuracy of each tool was further evaluated through Receiver Operating Characteristic analyses and calculations of Youden's <i>J</i> statistic. The CELF-5 Screener demonstrated poor sensitivity for receptive language difficulties (35.6%) while demonstrating high specificity (95.3%). Similarly, for expressive language difficulties, the sensitivity was low (37.9%), and the specificity was high (91.1%). The Vineland-3 showed high sensitivity (93.3%) but low specificity (48%) for expressive language difficulties and inadequate sensitivity (80.9%) and specificity (22.4%) for receptive language difficulties. Both the CELF-5 Screener and Vineland-3 may miss a significant number of children with co-occurring language difficulties related to autism and/or ADHD. Examiners must understand these tools' strengths and limitations, especially when assessing neurodivergent children whose language development might not follow a normative trajectory.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"857-869"},"PeriodicalIF":5.3,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652357","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}
Common ground (CG), the shared contextual knowledge serving everyday situations like conversations, is crucial for effective communication. This study delved into CG generation between peers with autism spectrum disorder (ASD, N = 84) compared to Controls (N = 56) children and adolescents (ages 6–16 years) paired into peer dyads. We aimed to deepen the understanding of the mechanism involved in CG efficacy among peers by exploring the roles of Theory of Mind (ToM) and Vocabulary in CG formation during play. Participants engaged in a structured task probing CG production in an ambiguous setting. Findings show that ASD and Control dyads generate CG spontaneously, yet the Control group demonstrated greater efficiency by achieving common conceptualization faster and with fewer words. Age and CG measures were correlated, outlining CG development, and Path analysis models suggested independent contributions from Vocabulary and ToM to CG efficiency. Limitations include the task's structured nature, precluding a comprehensive assessment of language and visual perception abilities. Taken together, the findings highlight the potential for interventions targeting CG acquisition in ASD, which is crucial for daily life participation. Interventions could harness cognitive processes like vocabulary and ToM to enhance dialogue efficacy among children with ASD.
{"title":"Paths to Common Ground in ASD","authors":"Einat Karin, Nirit Bauminger Zviely, Yael Estrugo, Maya Sabag, Ronny Geva","doi":"10.1002/aur.70006","DOIUrl":"10.1002/aur.70006","url":null,"abstract":"<p>Common ground (CG), the shared contextual knowledge serving everyday situations like conversations, is crucial for effective communication. This study delved into CG generation between peers with autism spectrum disorder (ASD, <i>N</i> = 84) compared to Controls (<i>N</i> = 56) children and adolescents (ages 6–16 years) paired into peer dyads. We aimed to deepen the understanding of the mechanism involved in CG efficacy among peers by exploring the roles of Theory of Mind (ToM) and Vocabulary in CG formation during play. Participants engaged in a structured task probing CG production in an ambiguous setting. Findings show that ASD and Control dyads generate CG spontaneously, yet the Control group demonstrated greater efficiency by achieving common conceptualization faster and with fewer words. Age and CG measures were correlated, outlining CG development, and Path analysis models suggested independent contributions from Vocabulary and ToM to CG efficiency. Limitations include the task's structured nature, precluding a comprehensive assessment of language and visual perception abilities. Taken together, the findings highlight the potential for interventions targeting CG acquisition in ASD, which is crucial for daily life participation. Interventions could harness cognitive processes like vocabulary and ToM to enhance dialogue efficacy among children with ASD.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"845-856"},"PeriodicalIF":5.3,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652361","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}
Christian Lemler, Solvejg K. Kleber, Leonie Polzer, Naisan Raji, Janina Kitzerow-Cleven, Ziyon Kim, Simeon Platte, Christine M. Freitag, Nico Bast
Mannerisms describe repetitive or unconventional body movements like arm flapping. These movements are early markers of restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD). However, assessing mannerisms reliably is challenging. Even after extensive training in behavioral observations, inter-rater agreements for mannerism items remain insufficient. The current study used machine learning (ML) to classify mannerisms from videotaped behavioral observations in children with ASD. We developed a classification scheme for mannerisms as ground truth and applied it to videotaped behavioral observations from an early intervention study. ML was used in two steps: First, the OpenPose algorithm post hoc extracted features based on body movements in the videos. Second, a long short-term memory (LSTM) neural network classified the features in a multi-label approach to distinguish between the absence of mannerisms, flapping, jumping, and both flapping + jumping. The trained models achieved 70.2% accuracy (F1 score: 31.8%) using nested cross-validation. The analysis improves on previous videotaped ML classification studies by splitting training and test data subject-wise, highlighting its clinical applicability. The LSTM models are made publicly available for use with other video datasets. Our results show that ML-based classification of mannerisms is a promising tool for enhancing objective diagnostic methods of behavioral observations.
{"title":"Semi-Automated Multi-Label Classification of Autistic Mannerisms by Machine Learning on Post Hoc Skeletal Tracking","authors":"Christian Lemler, Solvejg K. Kleber, Leonie Polzer, Naisan Raji, Janina Kitzerow-Cleven, Ziyon Kim, Simeon Platte, Christine M. Freitag, Nico Bast","doi":"10.1002/aur.70020","DOIUrl":"10.1002/aur.70020","url":null,"abstract":"<p>Mannerisms describe repetitive or unconventional body movements like arm flapping. These movements are early markers of restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD). However, assessing mannerisms reliably is challenging. Even after extensive training in behavioral observations, inter-rater agreements for mannerism items remain insufficient. The current study used machine learning (ML) to classify mannerisms from videotaped behavioral observations in children with ASD. We developed a classification scheme for mannerisms as ground truth and applied it to videotaped behavioral observations from an early intervention study. ML was used in two steps: First, the OpenPose algorithm post hoc extracted features based on body movements in the videos. Second, a long short-term memory (LSTM) neural network classified the features in a multi-label approach to distinguish between the absence of mannerisms, flapping, jumping, and both flapping + jumping. The trained models achieved 70.2% accuracy (<i>F</i>1 score: 31.8%) using nested cross-validation. The analysis improves on previous videotaped ML classification studies by splitting training and test data subject-wise, highlighting its clinical applicability. The LSTM models are made publicly available for use with other video datasets. Our results show that ML-based classification of mannerisms is a promising tool for enhancing objective diagnostic methods of behavioral observations.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"833-844"},"PeriodicalIF":5.3,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626967","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}
Yun-Ju Chen, Thomas W. Frazier, Peter Szatmari, Eric Duku, Annie E. Richard, Isabel M. Smith, Lonnie Zwaigenbaum, Rachael Bedford, Connor M. Kerns, Anat Zaidman-Zait, Terry Bennett, Mayada Elsabbagh, Tracy Vaillancourt, Stelios Georgiades
Assessing autistic traits alongside co-occurring emotional/behavioral concerns (EBCs) is challenging due to their overlap in clinical presentations, which can vary by age and sex. This study aimed to investigate domain-specific associations between autistic traits and EBCs–including anxiety, affective, attention-deficit/hyperactivity, and oppositional-defiant problems–across childhood in autistic boys and girls. We prospectively followed 389 children (84% male) diagnosed with autism at ages 2–5 years, using the Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL) across eight timepoints until age 12. Moderated nonlinear factor analysis was used to identify and adjust for measurement non-invariance of SRS items by age, sex, and EBCs. The adjusted scores were then used for sex-moderated time-varying modeling of associations between autistic traits and EBCs. Several SRS items in the domains of social-interaction difficulties and repetitive mannerisms showed significant intercept bias by age and level of co-occurring anxiety and ADHD (effect size r > 0.20). In autistic boys, strong associations were observed between social-communication difficulties and EBCs around ages 7–9, which tended to diminish in late childhood. In contrast, autistic girls showed stable or intensifying associations, particularly with anxiety, into late childhood. Results revealed significant associations between autistic traits and EBCs after addressing item-level measurement biases. The varying associations over time highlight the importance of continuous monitoring to promptly address autistic children's sex-differential mental health needs. These findings emphasize the benefits of refining behavioral constructs and adopting a nuanced developmental approach to identify critical periods of symptom coupling/decoupling for informing evaluation and service provision.
{"title":"Sex-Differential Trajectories of Domain-Specific Associations Between Autistic Traits and Co-Occurring Emotional-Behavioral Concerns in Autistic Children","authors":"Yun-Ju Chen, Thomas W. Frazier, Peter Szatmari, Eric Duku, Annie E. Richard, Isabel M. Smith, Lonnie Zwaigenbaum, Rachael Bedford, Connor M. Kerns, Anat Zaidman-Zait, Terry Bennett, Mayada Elsabbagh, Tracy Vaillancourt, Stelios Georgiades","doi":"10.1002/aur.70018","DOIUrl":"10.1002/aur.70018","url":null,"abstract":"<p>Assessing autistic traits alongside co-occurring emotional/behavioral concerns (EBCs) is challenging due to their overlap in clinical presentations, which can vary by age and sex. This study aimed to investigate domain-specific associations between autistic traits and EBCs–including anxiety, affective, attention-deficit/hyperactivity, and oppositional-defiant problems–across childhood in autistic boys and girls. We prospectively followed 389 children (84% male) diagnosed with autism at ages 2–5 years, using the Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL) across eight timepoints until age 12. Moderated nonlinear factor analysis was used to identify and adjust for measurement non-invariance of SRS items by age, sex, and EBCs. The adjusted scores were then used for sex-moderated time-varying modeling of associations between autistic traits and EBCs. Several SRS items in the domains of social-interaction difficulties and repetitive mannerisms showed significant intercept bias by age and level of co-occurring anxiety and ADHD (effect size <i>r</i> > 0.20). In autistic boys, strong associations were observed between social-communication difficulties and EBCs around ages 7–9, which tended to diminish in late childhood. In contrast, autistic girls showed stable or intensifying associations, particularly with anxiety, into late childhood. Results revealed significant associations between autistic traits and EBCs after addressing item-level measurement biases. The varying associations over time highlight the importance of continuous monitoring to promptly address autistic children's sex-differential mental health needs. These findings emphasize the benefits of refining behavioral constructs and adopting a nuanced developmental approach to identify critical periods of symptom coupling/decoupling for informing evaluation and service provision.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"820-832"},"PeriodicalIF":5.3,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626970","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}
Robert M. Jertberg, Sander Begeer, Hilde M. Geurts, Bhismadev Chakrabarti, Erik Van der Burg
Prior research has established differences between autistic and non-autistic individuals across the domains of executive function (EF). While some early theories portrayed these differences as universal to the autism spectrum, recent findings have been quite mixed. Factors like small samples, the components of EF being measured, and the age and intelligence quotient (IQ) of those being compared may contribute to this diversity in results. Moreover, research suggests performance over time might fluctuate in different patterns for autistic and non-autistic individuals. To test EF differences and the possible influence of these factors upon them, we recruited a sample of over 900 autistic and non-autistic participants (with generally average/above average IQ levels) from 18 to 77 years of age. They completed a battery of tasks measuring inhibition, cognitive flexibility, working memory, and attentional orienting to social and nonsocial cues. We found that performance was similar between groups in our primary measures of EF, although autistic participants were consistently slower, more susceptible to the effects of spatial cueing, and more prone to certain errors in the working memory task. Differences between groups were generally not influenced by participants' age, gender, or IQ. Performance over time varied only in the working memory task. While autistic adults may still face related challenges in real life, these findings suggest that being autistic does not necessarily imply executive dysfunction on a basic cognitive level, contradicting theories assuming universal impairments therein. Moreover, the lack of influence of included demographic factors suggests that explanations for discrepancies in the literature lie elsewhere.
{"title":"Slow but Steady: Similarities and Differences in Executive Functioning Between Autistic and Non-Autistic Adults","authors":"Robert M. Jertberg, Sander Begeer, Hilde M. Geurts, Bhismadev Chakrabarti, Erik Van der Burg","doi":"10.1002/aur.70015","DOIUrl":"10.1002/aur.70015","url":null,"abstract":"<p>Prior research has established differences between autistic and non-autistic individuals across the domains of executive function (EF). While some early theories portrayed these differences as universal to the autism spectrum, recent findings have been quite mixed. Factors like small samples, the components of EF being measured, and the age and intelligence quotient (IQ) of those being compared may contribute to this diversity in results. Moreover, research suggests performance over time might fluctuate in different patterns for autistic and non-autistic individuals. To test EF differences and the possible influence of these factors upon them, we recruited a sample of over 900 autistic and non-autistic participants (with generally average/above average IQ levels) from 18 to 77 years of age. They completed a battery of tasks measuring inhibition, cognitive flexibility, working memory, and attentional orienting to social and nonsocial cues. We found that performance was similar between groups in our primary measures of EF, although autistic participants were consistently slower, more susceptible to the effects of spatial cueing, and more prone to certain errors in the working memory task. Differences between groups were generally not influenced by participants' age, gender, or IQ. Performance over time varied only in the working memory task. While autistic adults may still face related challenges in real life, these findings suggest that being autistic does not necessarily imply executive dysfunction on a basic cognitive level, contradicting theories assuming universal impairments therein. Moreover, the lack of influence of included demographic factors suggests that explanations for discrepancies in the literature lie elsewhere.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"802-819"},"PeriodicalIF":5.3,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.70015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626974","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}
Zhifeng Cai, Chao Che, Dong Li, Xiaoli Li, Xiaoxiao Yu, Lianhu Yu, Qin Sun, Yaofang Niu, Aihua Cao
The potential etiological and diagnostic values of the gut microbiota in children with neurodevelopmental disorders are encouraging but controversial. In particular, the composition and characteristics of the gut microbiota in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) remain largely unidentified. Herein, we analyzed stool samples from 113 participants with a clinical diagnosis of ASD, 43 with ADHD, 8 with both ASD and ADHD, and 120 healthy controls between 2 and 11 years of age using 16S rRNA sequencing. We observed that clinical diagnosis, age, comorbidities, food sensitivities, and antibiotic use significantly affected the gut microbiota. The enriched genera in the control group were relatively common and dominant human gut bacteria, such as Bacteroides, Faecalibacterium, and Roseburia. The genera present in children with neurodevelopmental disorders showed greater heterogeneity, and the abundance of Bifidobacterium was consistently increased. We found 4899 deregulated microbial metabolic functions and revealed the formation of a divergent genus-level network in patients. This analysis demonstrated that the gut microbial signatures efficiently discriminated patients from healthy participants in both the discovery (area under the curve [AUC]: 0.95–0.98) and validation (AUC: 0.69–0.74) sets. Importantly, although ASD and ADHD share several gut microbial characteristics, specific bacteria that contribute to the disease pathogenesis may have different metabolic functions.
{"title":"Common Gut Microbial Signatures in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder","authors":"Zhifeng Cai, Chao Che, Dong Li, Xiaoli Li, Xiaoxiao Yu, Lianhu Yu, Qin Sun, Yaofang Niu, Aihua Cao","doi":"10.1002/aur.70016","DOIUrl":"10.1002/aur.70016","url":null,"abstract":"<div>\u0000 \u0000 <p>The potential etiological and diagnostic values of the gut microbiota in children with neurodevelopmental disorders are encouraging but controversial. In particular, the composition and characteristics of the gut microbiota in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) remain largely unidentified. Herein, we analyzed stool samples from 113 participants with a clinical diagnosis of ASD, 43 with ADHD, 8 with both ASD and ADHD, and 120 healthy controls between 2 and 11 years of age using 16S rRNA sequencing. We observed that clinical diagnosis, age, comorbidities, food sensitivities, and antibiotic use significantly affected the gut microbiota. The enriched genera in the control group were relatively common and dominant human gut bacteria, such as <i>Bacteroides</i>, <i>Faecalibacterium</i>, and <i>Roseburia</i>. The genera present in children with neurodevelopmental disorders showed greater heterogeneity, and the abundance of <i>Bifidobacterium</i> was consistently increased. We found 4899 deregulated microbial metabolic functions and revealed the formation of a divergent genus-level network in patients. This analysis demonstrated that the gut microbial signatures efficiently discriminated patients from healthy participants in both the discovery (area under the curve [AUC]: 0.95–0.98) and validation (AUC: 0.69–0.74) sets. Importantly, although ASD and ADHD share several gut microbial characteristics, specific bacteria that contribute to the disease pathogenesis may have different metabolic functions.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 4","pages":"741-751"},"PeriodicalIF":5.3,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143569026","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}