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Chen PS, Wong J, Chen EE, Chen ALP. Detecting autism in children through drawing characteristics using the visual-motor integration test. Health Inf Sci Syst 2025; 13:18. [PMID: 39877430 PMCID: PMC11769875 DOI: 10.1007/s13755-025-00338-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2024] [Accepted: 01/10/2025] [Indexed: 01/31/2025] Open
Abstract
This study introduces a novel classification method to distinguish children with autism from typically developing children. We recruited 50 school-age children in Taiwan, including 44 boys and 6 girls aged 6 to 12 years, and asked them to draw patterns from a visual-motor integration test to collect data and train deep learning classification models. Ensemble learning was adopted to significantly improve the classification accuracy to 0.934. Moreover, we identified five patterns that most effectively differentiate the drawing performance between children with and without ASD. From these five patterns we found that children with ASD had difficulty producing patterns that include circles and spatial relationships. These results align with previous findings in the field of visual-motor perceptions of individuals with autism. Our results offer a potential cross-cultural tool to detect autism, which can further promote early detection and intervention of autism.
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Affiliation(s)
- Po Sheng Chen
- Department of Computer Science, National Tsing Hua University, Hsinchu, Taiwan
| | - Jasin Wong
- Department of Special Education, National Tsing Hua University, Hsinchu, Taiwan
| | - Eva E. Chen
- Interdisciplinary Program of Education, National Tsing Hua University, Hsinchu, Taiwan
- Educational Psychology and Counselling, College of Education, National Tsing Hua University, Hsinchu, Taiwan
| | - Arbee L. P. Chen
- Department of Computer Science and Information Engineering, Asia University, Taichung, Taiwan
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2
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McNealis M, Kent J, Paskov K, Dunlap K, Lane J, Phillips B, Armstrong-Brine M, Kralovic S, Dimitropoulos A, Abbeduto L, Wall DP. Identifying understudied correlations between autism & phenotypic attributes in a large family dataset. BMC Psychol 2025; 13:561. [PMID: 40420291 DOI: 10.1186/s40359-025-02739-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2023] [Accepted: 04/14/2025] [Indexed: 05/28/2025] Open
Abstract
BACKGROUND Autism Spectrum Disorder (ASD), a neurodevelopmental condition marked by restricted, repetitive behaviors and social communication difficulties, is one of the fastest-growing pediatric behavioral health concerns in the United States. Long-term outcomes significantly improve with early intervention, but diagnosis and treatment are complicated by the large range of phenotypic presentations that can be moderated by identity factors like gender and culture. Many physical and behavioral characteristics associated with the autism phenotype are not included in the screening and diagnostic instruments used in research. METHODS We have built a multi-site registry of diverse families with children with autism to collect longitudinal data on their physical and behavioral attributes to study the heterogeneous autism phenotype. Our KidsFirst registry contains 6,951 participants (hereafter "children") from 4,120 families, 1,865 of which have more than one child. In addition to collecting standard clinical instruments such as the Social Communication Questionnaire (SCQ), we have collected information on the phenotypic attributes of hearing issues, noise sensitivity, vision challenges, irregular sleep, impaired motor skills, metabolic disorders, gastrointestinal (GI) problems, infections, seizures, and premature birth for both ASD and non-ASD children. After validating parent-reported diagnoses against SCQ scores, we analyzed the association of each attribute with the ASD diagnosis and the other attributes using a logistic regression model and permutation tests. RESULTS Noise sensitivity, impaired motor skills, irregular sleep, GI problems, infections, and seizures attributes were significantly associated with autism diagnosis. These attributes also share correlation structures amongst themselves, suggesting that groupings of attributes may help to define subtypes of autism. LIMITATIONS The attributes analyzed in this study are not a comprehensive list of suspected traits of autism. Parent-reported diagnoses may not always be accurate, although we validated diagnoses. Despite accounting for family structure in our experiments, the relationships between attributes and diagnosis are likely stronger in the general population because our "control" sample is comprised of biological siblings who may still possess subclinical autistic traits, given the heritability of autism. CONCLUSIONS A more expansive conceptualization of the autism phenotype is likely to be useful to both researchers and families for identifying a more targeted approach to intervention.
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Affiliation(s)
- Maya McNealis
- Departments of Pediatrics (Clinical Informatics), Biomedical Data Science, and Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, USA
| | - John Kent
- Departments of Pediatrics (Clinical Informatics), Biomedical Data Science, and Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, USA
| | - Kelley Paskov
- Departments of Pediatrics (Clinical Informatics), Biomedical Data Science, and Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, USA
| | - Kaitlyn Dunlap
- Departments of Pediatrics (Clinical Informatics), Biomedical Data Science, and Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, USA
| | - Jordan Lane
- Department of Psychological Sciences, Case Western Reserve University, Cleveland, OH, USA
| | - Brittani Phillips
- MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis Health, Sacramento, CA, USA
| | - Melissa Armstrong-Brine
- Division of Child and Adolescent Psychiatry and Psychology, MetroHealth Medical Center, Cleveland, OH, USA
| | - Shanna Kralovic
- Division of Developmental and Behavioral Pediatrics and Psychology, Department of Pediatrics, UH-Rainbow Babies and Children's Hospital, Cleveland, OH, USA
| | | | - Leonard Abbeduto
- MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis Health, Sacramento, CA, USA
| | - Dennis P Wall
- Departments of Pediatrics (Clinical Informatics), Biomedical Data Science, and Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, USA.
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Brambilla C, Nicora ML, Romeo L, Storm FA, D'Orazio T, Malosio M, Scano A. Biomechanical analysis on neurotypical and autism spectrum disorder people during human-cobot interaction. APPLIED ERGONOMICS 2025; 128:104557. [PMID: 40413905 DOI: 10.1016/j.apergo.2025.104557] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/13/2024] [Revised: 04/16/2025] [Accepted: 05/20/2025] [Indexed: 05/27/2025]
Abstract
Biomechanical analysis is essential for assessing subjects interacting with robotic setups and platforms. However, in industrial scenarios, workers' biomechanics are assessed mainly through questionnaires and scales which provide limited objectivity. Very few studies analyzed the biomechanics of workers in multiple sessions, and no study assessed diverse populations of workers. Therefore, we collected tracking data from 14 neurotypical and 7 participants with autism spectrum disorder (ASD) performing assembly tasks in a lab-based industrial collaborative workcell. Human tracking data were acquired by an Azure Kinect and elaborated with a biomechanical model that allowed to compute human kinematics and dynamics. The biomechanics of neurotypical and ASD operators were compared across two working sessions. Both neurotypical and people characterized by ASD decreased torque and power in the second session with respect to the first one, indicating adaptation to the working activity. Interestingly, ASD people expended more energy than neurotypical, suggesting a higher risk of fatigue. Overall, ASD people performed similarly to neurotypical people from a biomechanical point of view. In this study, we showed a protocol for multisession biomechanical monitoring of workers during industrial human-robot collaboration tasks that can be employed in real scenarios and with ASD workers. This approach can be useful in human-robot collaboration to design minimum-fatigue collaborative tasks, support physical health, and improve ergonomics for workers.
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Affiliation(s)
- Cristina Brambilla
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy.
| | - Matteo Lavit Nicora
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy; Department of Industrial Engineering, University of Bologna, Bologna, Italy
| | - Laura Romeo
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy
| | - Fabio Alexander Storm
- Scientific Institute, Istituto di Ricovero e Cura a Carattere Scientifico E. Medea, Lecco, Italy
| | - Tiziana D'Orazio
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy
| | - Matteo Malosio
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy
| | - Alessandro Scano
- Institute of Intelligent Industrial Systems and Technologies for Advanced Manufacturing (STIIMA), Italian Council of National Research (CNR), Italy
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Maffei MF, Chenausky KV, Tager-Flusberg H, Green JR. An Acoustic Analysis of Speech Motor Performance in Autistic Children. JOURNAL OF SPEECH, LANGUAGE, AND HEARING RESEARCH : JSLHR 2025:1-23. [PMID: 40396830 DOI: 10.1044/2025_jslhr-24-00561] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/22/2025]
Abstract
PURPOSE Despite known motor and spoken language impairments in autism spectrum disorder (ASD), the motor skills underlying speech production and their relationship with language skills have rarely been directly investigated in this population. METHOD Thirty-nine autistic children (14 minimally verbal [MV], 25 verbal [V]) and 11 non-autistic [NA]) children aged 4-7 years were audio-recorded producing multiple repetitions of single syllables. Acoustic features quantifying speech precision, coordination, and consistency were compared among groups. Correlations between acoustic speech features and language measures were examined. RESULTS The MV group showed significant differences from the V and NA groups in speech precision, coordination, and consistency. Across all the ASD children (MV + V), there were significant correlations between numerous acoustic speech features and expressive and receptive language. CONCLUSIONS These results are an initial step toward establishing acoustic-based speech motor profiles and understanding the connections between motor and language development in ASD. Measures of early oromotor function have the potential to play a role in the early identification of language impairments and in predicting language outcomes in this population. SUPPLEMENTAL MATERIAL https://doi.org/10.23641/asha.29042162.
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Affiliation(s)
- Marc F Maffei
- Sargent College of Health & Rehabilitation Sciences, Boston University, MA
| | - Karen V Chenausky
- Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA
- Neurology Department, Harvard Medical School, Boston, MA
| | | | - Jordan R Green
- Department of Communication Sciences and Disorders, MGH Institute of Health Professions, Boston, MA
- Speech and Hearing Biosciences and Technology Program, Harvard University, Cambridge, MA
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Schuster BA, Okamoto Y, Takahashi T, Kurihara Y, Keating CT, Cook JL, Kosaka H, Ide M, Naruse H, Kraaijkamp C, Osu R. A cross-cultural examination of bi-directional mentalising in autistic and non-autistic adults. Mol Autism 2025; 16:29. [PMID: 40361199 PMCID: PMC12076830 DOI: 10.1186/s13229-025-00659-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2024] [Accepted: 03/24/2025] [Indexed: 05/15/2025] Open
Abstract
BACKGROUND So-called 'mismatch accounts' propose that, rather than arising from a socio-cognitive deficit present in autistic people, mentalising difficulties are the product of a mismatch in neurotype between interaction partners. Although this idea has grown in popularity over recent years, there is currently only limited empirical evidence to support mismatch theories. Moreover, the social model of disability such theories are grounded in demands a culturally situated view of social interaction, yet research on mentalising and/or autism is largely biased towards Western countries, with little knowledge on how successful mentalising is defined differently, and how tools to assess socio-cognitive ability compare, across cultures. METHODS Using a widely employed mentalising task-the animations task-, the current study investigated and compared the bi-directional mentalising performance of British and Japanese autistic and non-autistic adults and assessed observer-agent kinematic similarity as a potential dimension along which mismatches may occur between neurotypes. Participants were asked to depict various mental state- and action-based interactions by moving two triangles across a touch-screen device before viewing and interpreting stimuli generated by other participants. RESULTS In the UK sample, our results replicate a seminal prior study in showing poorer mentalising abilities in non-autistic adults for animations generated by the autistic group. Crucially, the same pattern did not emerge in the Japanese sample, where there were no mentalising differences between the two groups. LIMITATIONS Limitations of the current study include that efforts to match all samples within and across cultures in terms of IQ, gender, and age were not successful in all comparisons, but control analyses suggest this did not affect our results. Furthermore, any performance differences were found for both the mental state- and action-based conditions, mirroring prior work and raising questions about the domain-specificity of the employed task. CONCLUSIONS Our results add support for a paradigm shift in the autism literature, moving beyond deficit-based models and towards acknowledging the inherently relational nature of social interaction. We further discuss how our findings suggest limited cultural transferability of common socio-cognitive measures rather than superior mentalising abilities in Japanese autistic adults, underscoring the need for more cross-cultural research and the development of culturally sensitive scientific and diagnostic tools.
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Affiliation(s)
- Bianca A Schuster
- School of Human Sciences, Waseda University, Tokorozawa, Japan.
- Waseda Institute for Advanced Study, Waseda University, Tokyo, Japan.
- Department of Cognition, Emotion, and Methods in Psychology, University of Vienna, Vienna, Austria.
| | - Y Okamoto
- Waseda Institute for Advanced Study, Waseda University, Tokyo, Japan
- Department of Sports Science, Faculty of Health and Sports Science, Juntendo University, Tokyo, Japan
| | - T Takahashi
- School of Human Sciences, Waseda University, Tokorozawa, Japan
| | - Y Kurihara
- School of Human Sciences, Waseda University, Tokorozawa, Japan
| | - C T Keating
- Centre for Human Brain Health and School of Psychology, University of Birmingham, Birmingham, UK
- Department of Experimental Psychology, University of Oxford, Oxford, UK
| | - J L Cook
- Centre for Human Brain Health and School of Psychology, University of Birmingham, Birmingham, UK
| | - H Kosaka
- University of Fukui, Fukui, Japan
| | - M Ide
- National Rehabilitation Center for Persons With Disabilities, Tokorozawa, Japan
| | - H Naruse
- University of Fukui, Fukui, Japan
| | - C Kraaijkamp
- Centre for Human Brain Health and School of Psychology, University of Birmingham, Birmingham, UK
| | - R Osu
- School of Human Sciences, Waseda University, Tokorozawa, Japan
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Guan L, Zhang Z, Wang F, Gao T, Wang Y, Zhu Q, Li J, Huang A, Ke X. Motor developmental trajectories in infants with an elevated likelihood of autism spectrum disorder: A prospective cohort study. Infant Behav Dev 2025; 79:102067. [PMID: 40306027 DOI: 10.1016/j.infbeh.2025.102067] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2024] [Revised: 04/18/2025] [Accepted: 04/25/2025] [Indexed: 05/02/2025]
Abstract
Motor skills in infants with autism spectrum disorder (ASD) may reveal early potential indicators of ASD. This prospective cohort study investigated the developmental trajectories of motor skills in infants with an elevated likelihood of ASD from three time points. The Gesell Developmental Schedules were used to collect prospective, longitudinal data from infants aged 6-24 months. The Autism Diagnostic Observation Schedule was employed for the clinical symptoms of ASD at 18-24 months. Latent class trajectory modeling was applied to identify distinct groups of infants with an elevated likelihood of ASD exhibiting similar motor skills trajectories. The final analysis included 121 infants. At the 24-month follow-up, two distinct gross motor trajectory classes, and three distinct fine motor trajectory classes were identified. Compared to a stable trajectory of gross motor developmental, the variable trajectory was associated with an ASD diagnosis, while the trajectory of fine motor skills showed no significant association. These results provide valuable insight into ASD-specific developmental trajectories and promote the identification of developmentally personalized ASD treatments.
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Affiliation(s)
- Luyang Guan
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Ziyi Zhang
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Fei Wang
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Tianshu Gao
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Yonglu Wang
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Qingyao Zhu
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China
| | - Jinhui Li
- Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China
| | - Anqi Huang
- Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China
| | - Xiaoyan Ke
- Child Mental Health Research Center, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China; Nanjing Brain Hospital, Medical School of Nanjing University, Nanjing, China.
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Guldager JD, Emtoft LM, Remmen LN, Bentholm AL. Factors Associated with the Enjoyment of Physical Education Class for Children with Special Educational Needs. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH 2025; 22:697. [PMID: 40427814 PMCID: PMC12111786 DOI: 10.3390/ijerph22050697] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 03/14/2025] [Revised: 04/11/2025] [Accepted: 04/25/2025] [Indexed: 05/29/2025]
Abstract
Enjoying physical education class (PE) is important for children with special educational needs (SEN) due to its impact on their physical and mental health. However, there is a research gap concerning children with SEN and their enjoyment of PE. This exploratory study investigated how school children with and without SEN report enjoyment of physical education class and explored associated factors. A cross-sectional survey was conducted among school children with and without SEN. Both groups reported very high enjoyment of PE, but children without SEN had higher enjoyment. Among children with SEN, boys, those attending schools in East Denmark, and those engaged in leisure physical activity reported higher enjoyment levels, while children from larger schools consistently reported lower enjoyment levels. Understanding the differences in PE enjoyment between children with and without SEN is crucial for educators and policymakers to develop inclusive practices that ensure equitable experiences for all children, fostering a positive and supportive environment in school PE programs. Our findings highlight nuanced differences in PE enjoyment perceptions between children with and without SEN, emphasizing the need to consider diverse student characteristics when designing PE programs to enhance overall enjoyment.
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Affiliation(s)
| | - Laura Mørk Emtoft
- Center for Teaching and Learning, University College Absalon, 4760 Vordingborg, Denmark;
| | - Line Nørgaard Remmen
- Department of Occupational Therapy, University College South Denmark, 6705 Esbjerg, Denmark;
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Bai Y, Brillinger M, Karlinsky A, Poliakoff E, Welsh TN, Gowen E. Speed-accuracy trade-offs in action perception, motor imagery, and execution of hand movements in autistic and non-autistic adults. Sci Rep 2025; 15:13255. [PMID: 40247000 PMCID: PMC12006536 DOI: 10.1038/s41598-025-97036-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/08/2024] [Accepted: 04/02/2025] [Indexed: 04/19/2025] Open
Abstract
Action perception, execution, and imagery share motor-cognitive processes. Given prevalent sensory and motor coordination difficulties in autism, the processes of action perception and imagery may also be altered. This study investigated whether autistic adults can engage in motor imagery by testing potential differences in executing, perceiving, and imagining hand movements between autistic and non-autistic adults. Twenty autistic individuals and twenty age- and IQ-matched controls completed execution, imagination, and perception tasks using a Fitts' Law paradigm in an online session. For the execution and imagination tasks, participants performed or imagined making aiming movements between two targets. For the action perception task, participants indicated whether they could perform as accurately as the movements in presented videos. Target size and distance were manipulated into three difficulty levels and systematically varied across all tasks. Results showed Fitts' Law relationships for all tasks for both groups, with significant positive correlations between movement times and difficulty level. Movement times were longest in the imagination task and shortest in the perception task for both groups. These findings suggest motor imagery processes are relatively intact in autistic adults, highlighting that further investigation of motor imagery as a therapy for motor coordination difficulties in autistic individuals is warranted.
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Affiliation(s)
- Ying Bai
- Division of Psychology Communication and Human Neuroscience, The University of Manchester, Manchester, UK
| | - Molly Brillinger
- Faculty of Kinesiology & Physical Education, University of Toronto, Toronto, ON, Canada
| | - April Karlinsky
- Department of Kinesiology, California State University-San Bernardino, San Bernardino, CA, USA
| | - Ellen Poliakoff
- Division of Psychology Communication and Human Neuroscience, The University of Manchester, Manchester, UK
| | - Timothy N Welsh
- Faculty of Kinesiology & Physical Education, University of Toronto, Toronto, ON, Canada
| | - Emma Gowen
- Division of Psychology Communication and Human Neuroscience, The University of Manchester, Manchester, UK.
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Pokoski OM, Furnier SM, Gangnon RE, Howerton EM, Kirby AV, Protho T, Schweizer ML, Travers BG, Durkin MS. Prevalence of Motor Milestone Delays in Autistic Children. JAMA Pediatr 2025:2832661. [PMID: 40227744 PMCID: PMC11997849 DOI: 10.1001/jamapediatrics.2025.0216] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 04/15/2025]
Abstract
Importance Prior literature has explored the prevalence of motor impairments in autistic individuals, but estimates come from clinical, convenience, or small samples, limiting generalizability. Better understanding of the frequency of motor milestone delays in autistic individuals could improve early identification and subsequently lead to earlier intervention and better developmental outcomes. Objective To determine the prevalence of motor milestone delays in a population-based sample of 8-year-old autistic children and to evaluate if having motor milestone delays is associated with an earlier age at autism evaluation or diagnosis. Design, Setting, and Participants This cross-sectional study of autistic 8-year-old children was conducted using Autism and Developmental Disabilities Monitoring (ADDM) Network data between surveillance years 2000 and 2016. ADDM Network data are population based and are drawn from 17 sites across the US. Data were analyzed from October 2023 to August 2024. Exposure Binary indicator of motor milestone delays documented in health or educational records. Main Outcomes and Measures The primary outcome was the prevalence of motor milestone delays among autistic 8-year-old children. Associations between motor milestone delays and age at autism evaluation or diagnosis were evaluated using linear regression. Covariates included study site, surveillance year, the number of autism discriminators, intellectual disability, child sex, and child race and ethnicity. Results Among 32 850 children aged 8 years identified with autism by active surveillance, 23 481 children (71.5%) met criteria for motor milestone delays. A total of 5973 children (18.2%) were female. In linear regression models, children with motor milestone delays were evaluated for autism significantly earlier (mean age, 43.65 months; 95% CI, 43.38-43.91) than children without motor milestone delays (mean age, 51.64 months; 95% CI, 51.22-52.06). After stratifying by the co-occurrence of intellectual disability (ID), children with motor milestone delays were evaluated for autism earlier than those without motor milestone delays, regardless of ID. Conclusions and Relevance This cross-sectional study estimates the prevalence of motor milestone delays among autistic 8-year-old children and highlights the association between these delays and an earlier autism evaluation, even in children without co-occurring ID. Early identification of autism is a public health priority, and assessing motor milestone delays, particularly in children with an increased likelihood of being autistic, may facilitate an earlier autism evaluation, leading to more timely interventions and better developmental outcomes.
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Affiliation(s)
- Olivia M Pokoski
- Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison
- Waisman Center, University of Wisconsin-Madison
| | - Sarah M Furnier
- Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison
- Waisman Center, University of Wisconsin-Madison
| | - Ronald E Gangnon
- Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison
- Department of Biostatistics and Medical Informatics, School of Medicine and Public Health, University of Wisconsin-Madison
| | - Ellen M Howerton
- Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland
| | - Anne V Kirby
- Department of Occupational and Recreational Therapies, University of Utah, Salt Lake City
| | - Tyra Protho
- College of Health Solutions, Arizona State University, Phoenix
| | - Marin L Schweizer
- Department of Medicine, School of Medicine and Public Health, University of Wisconsin-Madison
| | - Brittany G Travers
- Waisman Center, University of Wisconsin-Madison
- Occupational Therapy Program, Department of Kinesiology, University of Wisconsin-Madison
| | - Maureen S Durkin
- Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison
- Waisman Center, University of Wisconsin-Madison
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Pussino S, Darchen F. Improvement of motor disorders and autistic symptomatology by an approach centered on the body axis: a two-case report. FRONTIERS IN CHILD AND ADOLESCENT PSYCHIATRY 2025; 4:1451559. [PMID: 40297708 PMCID: PMC12034731 DOI: 10.3389/frcha.2025.1451559] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 06/19/2024] [Accepted: 03/24/2025] [Indexed: 04/30/2025]
Abstract
Motor dysfunction is commonly associated with autism spectrum disorders (ASD). However, even if it may represent an intrinsic dimension of ASD it is not thought of as a relevant therapeutic target. Here we describe the postural, motor, and autistic characteristics of two children with ASD, a girl aged 3 years and 9 months and a boy aged 4 years and 7 months at enrollment, and their evolution over 20 or 23 months in response to interventions targeting these postural characteristics. Both met DSM-5 diagnosis critera for ASD. In both cases, asymmetric postures, twisting around the longitudinal axis, and underuse of the hands, particularly the thumbs, were observed. The children were repeatedly encouraged to engage in motor experiences involving their spatial cues and body axes and to correct their postures. We assessed more than fifty items describing motor particularities, communication, and social interactions. We observed a progressive and synchronous improvement in most of the items. In particular, communication and interaction skills improved in a similar way to motor skills. CARS scores also improved from 36 at initial assessment to 26 at the end of the follow-up for the boy and from 39.5 to 30 for the girl. These results suggest that motor dysfunction is an intrinsic dimension of autism and that interventions aimed at improving motor organization around a "body axis" could benefit children with ASD.
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Affiliation(s)
| | - François Darchen
- Centre d’Action Médico-Sociale Précoce, Gonesse Hospital, Gonesse, France
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11
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Arabi SM, Saberi Kakhki A. Comparing the effects of fine, gross, and fine-gross motor exercises on the motor competence of 6-12 year-old autistic children: A quasi-experimental study with a follow-up test. Acta Psychol (Amst) 2025; 254:104842. [PMID: 40023123 DOI: 10.1016/j.actpsy.2025.104842] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2023] [Revised: 02/19/2025] [Accepted: 02/19/2025] [Indexed: 03/04/2025] Open
Abstract
PURPOSE It has been reported that most of the autistic children suffer from developmental delays in motor skills. Therefore, the aim of this study was to compare the effects of Fine, Gross, and Fine-Gross Motor Exercises on the gross and fine motor skills and the motor competence of 6-12 year-old autistic children. METHOD 60 autistic children were included in the study and randomly divided into three experimental groups and one control group. The Bruininks-Oseretsky Test of Motor Competence was conducted in three stages: pre-test, post-test, and follow-up (two months later). The experimental groups received the intervention of their group in three sessions per week for three months, 30 sessions, each lasting for 45 min. RESULTS motor competence score in the gross-fine motor and gross-motor groups improved significantly in the post-test. In addition, the gross-fine motor group received significantly a higher score in post-test and follow up. This improvement in the gross-fine motor group resulted from improving gross and fine motor skills, while the gross-motor group only improved gross motor skills. CONCLUSION Overall, the gross-fine motor exercise probably positively affected the motor abilities underlying gross and fine motor skills. Hence, this type of exercise program is suggested to be used for autistic children.
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Affiliation(s)
- Seyedeh Manizheh Arabi
- Department of Motor Behavior, Faculty of Sports Sciences, Bu-Ali Sina University, Hamedan, Iran.
| | - Alireza Saberi Kakhki
- Department of Motor Behavior, Faculty of Sport Sciences, Ferdowsi University of Mashhad, Mashhad, Iran.
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Jewell DT, Schmuckler MA. Momentary clumsiness and attention: Everyday interactions (and risks) in the world. Acta Psychol (Amst) 2025; 254:104866. [PMID: 40054080 DOI: 10.1016/j.actpsy.2025.104866] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/09/2024] [Revised: 02/18/2025] [Accepted: 02/27/2025] [Indexed: 03/18/2025] Open
Abstract
Typically, explorations into risk-taking involve the conscious undertaking of actions that are potentially harmful. Rarely considered in such risk-taking contexts, however, are everyday, innocuous behaviors that nevertheless have the potential to cause some level of harm to actors; such behaviors could be considered as lying on a continuum of risky activity. The current study explored individual and developmental differences in one such category of behavior, entitled "momentary clumsiness". Momentary clumsiness refers to a tendency to perform movements involving non-optimal motor control, such as knocking over a glass of liquid or tripping while walking up stairs. This project explored the link between such behaviors and attentional factors. Specifically, twenty participants in three age groups (7- and 8-year-olds, 11- and 12-year-olds, and young adults) completed the experiment in 2 testing sessions. Momentary clumsiness was assessed by a 2-week daily phone interview, and was correlated with Stroop performance. The incidence of momentary clumsiness remained steady with age and was not related to motor ability or anthropometric measures. A high incidence of momentary clumsy behaviors was associated with a narrow focus of attention, and specifically, the tendency to ignore irrelevant and distracting stimuli. These findings are interpreted with respect to the relation between action and attentional focus, and provide a basis for extending our conceptualizations of injury proneness and risk-taking into a continuum of behaviors, varying in their degree of riskiness.
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Affiliation(s)
- Derryn T Jewell
- Department of Psychology, University of Toronto Scarborough, Canada
| | - Mark A Schmuckler
- Department of Psychology, University of Toronto Scarborough, Canada.
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13
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Laudańska Z, Malinowska-Korczak A, Babis K, Mąka S, Lozano I, Marschik PB, Zhang D, Patsis K, Szmytke M, Podstolak M, Araszkiewicz W, Tomalski P. Sit and face the world: ontogenetic adaptation in infant vocal production and visual attention during the transition to independent sitting. BMC Psychol 2025; 13:320. [PMID: 40170091 PMCID: PMC11963614 DOI: 10.1186/s40359-025-02645-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/12/2025] [Accepted: 03/25/2025] [Indexed: 04/03/2025] Open
Abstract
BACKGROUND Motor milestones are not only indicators of developmental progress, but they also open up new opportunities for infants to interact with the environment and social partners, as the development of motor, social, and language skills is tightly interconnected in infancy. This study will investigate how the transition to independent sitting relates to key areas of socio-communicative development in infancy: vocal production and visual attention. METHODS This study addresses the relationship between sitting acquisition and social cognition skills in infancy. It will allow for comparing if infant motor development, vocalizations, and visual attention undergo developmental changes in parallel or whether they have intertwined trajectories. We will conduct a longitudinal study using a milestone-based approach to account for individual differences in relation to the timing of motor milestone acquisition. We will invite parent-infant dyads to the lab when infants are at different stages of independent sitting acquisition: non-sitting, attempting-sitting and expert-sitting. Infants' attention toward faces and toys will be measured with a wearable eye-tracker during free-flowing dyadic interactions with their caregivers. During the same interactions, infant vocalizations will also be recorded and analyzed. Additionally, screen-based eye-tracking will be used to precisely assess changes in infants' attention to the mouth area of the speaker. DISCUSSION Altogether, this study will provide a unique dataset that tracks the cross-dependence of motor, visual and vocal developmental trajectories. It will have the potential to inform future studies of neurodevelopmental disorders such as autism that are characterized by socio-communicative challenges.
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Affiliation(s)
- Zuzanna Laudańska
- Institute of Psychology, Polish Academy of Sciences, Warsaw, Poland.
- Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, German Center for Mental Health (DZPG), Heidelberg, Germany.
| | | | - Karolina Babis
- Institute of Psychology, Polish Academy of Sciences, Warsaw, Poland
| | - Szymon Mąka
- Institute of Psychology, Polish Academy of Sciences, Warsaw, Poland
| | - Itziar Lozano
- Institute of Psychology, Polish Academy of Sciences, Warsaw, Poland
| | - Peter B Marschik
- Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, German Center for Mental Health (DZPG), Heidelberg, Germany.
- iDN - interdisciplinary Developmental Neuroscience, Division of Phoniatrics, Medical University of Graz, Graz, Austria.
- Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet & Region Stockholm, Stockholm, Sweden.
- Child and Adolescent Psychiatry and Psychotherapy, University Medical Center, German Center for Child and Adolescent Health (DZKJ) and Leibniz ScienceCampus Primate Cognition, Göttingen, Göttingen, Germany.
| | - Dajie Zhang
- Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, German Center for Mental Health (DZPG), Heidelberg, Germany
- iDN - interdisciplinary Developmental Neuroscience, Division of Phoniatrics, Medical University of Graz, Graz, Austria
| | - Katerina Patsis
- Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, German Center for Mental Health (DZPG), Heidelberg, Germany
| | - Magdalena Szmytke
- Institute of Psychology, Faculty of Philosophy and Social Sciences, Nicolaus Copernicus University in Toruń, Toruń, Poland
| | - Monika Podstolak
- Institute of Psychology, Polish Academy of Sciences, Warsaw, Poland
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14
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Jertberg RM, Begeer S, Geurts HM, Chakrabarti B, Van der Burg E. Intact but Protracted Facial and Prosodic Emotion Recognition Among Autistic Adults. J Autism Dev Disord 2025:10.1007/s10803-025-06786-z. [PMID: 40146315 DOI: 10.1007/s10803-025-06786-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/28/2025] [Indexed: 03/28/2025]
Abstract
Despite extensive research efforts, it is unclear how autistic and non-autistic individuals compare in their ability to recognize emotions. Differences in demographic and task factors have been proposed as explanations for divergent findings, but limitations in samples and designs have obscured insight into this possibility. This study investigated the extent of emotion recognition differences among autistic adults and the influence of these factors upon them. We recruited a large sample of autistic and non-autistic adults (N = 1,239) spanning across adulthood (18-76 years). In three online experiments, we compared their performance in recognizing emotions from basic facial expressions, complex expressions conveyed by the eyes alone, and prosodic elements of speech. Autistic individuals performed as well as non-autistic ones in terms of recognition accuracy/sensitivity across measures and emotional categories but took longer to do so. We also detected comparable influences of age, estimated intelligence quotient, and gender (as well as task demands) on both groups. While autistic adults may differ in how they process emotional stimuli, they can do so effectively when given sufficient time. Accordingly, efforts to help autistic individuals improve their ability to recognize emotions may be more fruitful if they focus on efficiency over accuracy. Additionally, reaction time data may offer greater insight than accuracy into differences between autistic and non-autistic individuals on emotion recognition tasks. The similar effects of the demographic and task factors we analyzed on both groups suggest that explanations of the discrepancies in prior literature lie elsewhere.
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Affiliation(s)
- Robert M Jertberg
- Section of Clinical Developmental Psychology, Vrije Universiteit Amsterdam and The Netherlands and Amsterdam Public Health Research Institute, Amsterdam, The Netherlands.
- Dutch Autism and ADHD Research Center (d'Arc), Brain & Cognition, Department of Psychology, Universiteit van Amsterdam, Amsterdam, The Netherlands.
| | - Sander Begeer
- Section of Clinical Developmental Psychology, Vrije Universiteit Amsterdam and The Netherlands and Amsterdam Public Health Research Institute, Amsterdam, The Netherlands
| | - Hilde M Geurts
- Dutch Autism and ADHD Research Center (d'Arc), Brain & Cognition, Department of Psychology, Universiteit van Amsterdam, Amsterdam, The Netherlands
- Leo Kannerhuis (Youz/Parnassiagroup), Amsterdam, The Netherlands
| | - Bhismadev Chakrabarti
- Centre for Autism, School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK
- India Autism Center, Kolkata, India
- Department of Psychology, Ashoka University, Sonipat, India
| | - Erik Van der Burg
- Section of Clinical Developmental Psychology, Vrije Universiteit Amsterdam and The Netherlands and Amsterdam Public Health Research Institute, Amsterdam, The Netherlands
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15
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Phalip A, Netser S, Wagner S. Sex- and social context-dependent differences in mice fine head movement during social interactions. BMC Biol 2025; 23:82. [PMID: 40114221 PMCID: PMC11927281 DOI: 10.1186/s12915-025-02191-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2024] [Accepted: 03/10/2025] [Indexed: 03/22/2025] Open
Abstract
BACKGROUND Social decision-making is influenced by multiple factors such as age, sex, emotional state, and the individual's social environment. While various behavioural readouts have been commonly used to study social behaviour in rodents, the role of fine head movements during social interactions remains underexplored despite the presence of accelerometers in many electrophysiological recording systems. RESULTS Here, we used head acceleration data to analyse head movement kinematics in adult male and female mice across several social discrimination tests in various time scales. Our findings demonstrate the complementary nature of two variables derived from the raw acceleration, namely overall static (OSHA) and dynamic (ODHA) head acceleration, as well as specific head angles (Pitch and Roll). Together, these variables provide a comprehensive, detailed analysis of head movement, which cannot be easily achieved by video analysis systems such as DeepLabCut. Overall, our results suggest that head movement patterns are significantly influenced by sex, stimulus preference, and social context. Specifically, ODHA exhibited strong sex dependence and appeared to be more sensitive to internal states such as arousal and alertness. The static components were primarily influenced by social context, particularly stimulus preference, and seemed to reflect the subject's motivation to engage with the stimulus. The Roll angle also appeared strongly modulated by the broader social context. CONCLUSIONS Our study provides a novel method and analysis pipeline for studying the social behaviour of small rodents in high-time resolution using a head-based accelerometer. Our findings suggest that such measurements may inform the affective and motivational states of the subject during social interactions.
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Affiliation(s)
- Adèle Phalip
- Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel.
| | - Shai Netser
- Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel
| | - Shlomo Wagner
- Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa, Israel
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16
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Truscott L, Simpson K, Malone SA. Physiotherapists Identify Movement Difficulties in Autistic Children Using Subjective and Objective Measures: An Observational Study. Phys Occup Ther Pediatr 2025:1-17. [PMID: 40113635 DOI: 10.1080/01942638.2025.2477183] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/21/2023] [Revised: 03/04/2025] [Accepted: 03/04/2025] [Indexed: 03/22/2025]
Abstract
OBJECTIVE To explore the assessment practices and identification of movement difficulties in autistic children aged 12 months to 6 years by physiotherapists in Australia. METHODS Registered physiotherapists providing services to autistic children ages 12 months - 6 years completed a survey. The survey was distributed via closed physiotherapy social media (Facebook) pages in Australia from March to June 2022. The survey included 8 items on strategies/approaches to assessment, 47 items on measurement, and 23 items on movement difficulties. RESULTS 85 physiotherapists completed the survey. Findings indicated that parent reports, observations, and movement analyses were the most commonly used assessment strategies employed 100% of time, followed by musculoskeletal assessments (80%) and standardized assessments (50%). Of standardized assessments used, Alberta Infant Motor Scale (AIMS) was used most, by over 69% of physiotherapists, with multiple versions of five other standardized assessments used by over 52% of physiotherapists, namely Movement Assessment Battery for Children, Neurological Sensory Motor Developmental Assessment, Bruininks-Oseretsky Test of Motor Proficiency, Developmental Coordination Disorder Questionnaire and Test of Gross Motor Development. A range of movement difficulties were frequently identified in developmental delays (86% of time), gross motor (85%), coordination (82%), motor planning (81%), and hypotonia (80%). CONCLUSIONS Physiotherapists in Australia use a variety of methods to examine movement difficulties in young autistic children, suggesting that this frequently occurs prior to autism diagnosis.
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Affiliation(s)
- Lisa Truscott
- Autism Centre of Excellence, School of Education and Professional Studies, Griffith University, Brisbane, Australia
| | - Kate Simpson
- Autism Centre of Excellence, School of Education and Professional Studies, Griffith University, Brisbane, Australia
- Griffith Institute for Educational Research, Brisbane, Australia
| | - Stephanie A Malone
- Autism Centre of Excellence, School of Education and Professional Studies, Griffith University, Brisbane, Australia
- Griffith Institute for Educational Research, Brisbane, Australia
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17
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Scharoun Benson SM, Salters D, Benson AJ. Mapping Children's Social and Motor Skill Profiles to Autistic Traits and Behavioral Tendencies. J Autism Dev Disord 2025:10.1007/s10803-025-06780-5. [PMID: 40082307 DOI: 10.1007/s10803-025-06780-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/24/2025] [Indexed: 03/16/2025]
Abstract
We used a person-centered approach to: (1) elucidate distinct configurations of social and motor skills across subgroups of children, (2) determine how profiles map to autistic traits and behavioral tendencies, and (3) identify how children with and without different diagnoses are categorized within profiles. Parents/guardians (N = 538) of 5- to 15-year-olds reported on their children's autistic traits, social skills, motor skills, and behavioral tendencies. Factor scores were extracted as indicators for latent profile analysis and a series of profile solutions were generated. After selecting the final profile solution, mean-level differences were examined across each profile, pairing for key measures of interest. Frequency distribution analysis was used to identify the number of children with and without formal diagnoses in each profile. A 6-profile solution was identified, drawing attention to how social and motor competencies combine in qualitatively distinct ways across subpopulations. Whereas several profiles had similar levels of social and motor skills (Profile 2: weak social/motor, Profile 4: average social/motor, Profile 6: exceptional social/motor), other profiles showed divergent levels of social and motor competencies (Profile 1: weak motor but average social, Profile 3: above average social and strong motor, Profile 5: strong social and above average motor). These subpopulations differed in terms of their proportions of diagnoses (i.e., of autism specifically and co-occurring with other diagnoses), autistic traits, and behavioral difficulties. Findings support a person-centered approach that considers the relationships, interactions, and shared mechanisms of multiple developmental domains to better understand child development, optimize interventions, and improve outcomes.
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Affiliation(s)
- Sara M Scharoun Benson
- Department of Kinesiology, University of Windsor, 401 Sunset Ave, Windsor, ON, N9B3P4, Canada.
| | - Danielle Salters
- Department of Kinesiology, University of Windsor, 401 Sunset Ave, Windsor, ON, N9B3P4, Canada
| | - Alex J Benson
- Department of Psychology, Western University, 1151 Richmond St, London, ON, N6A3K7, Canada
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18
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Skaletski EC, Barry K, Dennis E, Donnelly R, Huerta C, Jones A, Schmidt K, Kabakov S, Ausderau KK, Li JJ, Travers BG. Sensorimotor Features and Daily Living Skills in Autistic Children With and Without ADHD. J Autism Dev Disord 2025; 55:1088-1100. [PMID: 38443659 PMCID: PMC11374933 DOI: 10.1007/s10803-024-06256-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/18/2024] [Indexed: 03/07/2024]
Abstract
Attention-deficit/hyperactivity disorder (ADHD) commonly co-occurs in autistic children. However, additional research is needed to explore the differences in motor skills and sensory features in autistic children with and without ADHD, as well as the impacts of these factors on daily living skills (DLS). This observational study sought to fill this gap with 67 autistic children (6.14-10.84 years-old), 43 of whom had ADHD. Autistic children with ADHD demonstrated higher sensory features and lower motor skills than autistic children without ADHD. In examining autism and ADHD features dimensionally, we found that overall sensory features, seeking, and hyporesponsiveness were driven by both autism and ADHD features, whereas motor skills, enhanced perception, and hyperresponsiveness were driven by only autism features. Additionally, in using these dimensional variables of autism and ADHD features, we found that differences in motor skills, sensory and autism features, but not ADHD features, impact DLS of autistic children, with autism features and motor skills being the strongest individual predictors of DLS. Together, these results demonstrate the uniqueness of motor skills and sensory features in autistic children with and without ADHD, as well as how autism features, sensory features, and motor skills contribute to DLS, emphasizing the importance of a comprehensive understanding of each individual and complexities of human development when supporting autistic children.
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Affiliation(s)
- Emily C Skaletski
- Department of Kinesiology, University of Wisconsin-Madison, 1300 University Avenue, Madison, WI, 53706, USA
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
| | - Kelly Barry
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Elizabeth Dennis
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Ryan Donnelly
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Celina Huerta
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Andrez Jones
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Kate Schmidt
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Sabrina Kabakov
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - Karla K Ausderau
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA
| | - James J Li
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA
- Department of Psychology, University of Wisconsin-Madison, 1202 W Johnson St, Madison, WI, USA
| | - Brittany G Travers
- Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA.
- Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin- Madison, 1300 University Avenue, Madison, WI, 53706, USA.
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Keselman D, Glanzman A, Thelen MY, Prosser LA, McGuire J, Matesanz SE. Motor function testing rates and outcomes in Duchenne muscular dystrophy with comorbid autism and attention-deficit/hyperactivity disorder. Neuromuscul Disord 2025; 48:105281. [PMID: 39946777 DOI: 10.1016/j.nmd.2025.105281] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/17/2024] [Revised: 01/21/2025] [Accepted: 01/27/2025] [Indexed: 03/18/2025]
Abstract
Patients with Duchenne muscular dystrophy have a higher incidence of neurodevelopmental disorders, particularly autism spectrum and attention-deficit/hyperactivity disorders, than the general population. However, the clinical outcome assessments used in the evaluation of patients with Duchenne and as endpoints in clinical trials require significant patient cooperation, which can be challenging in those with severe behavioral issues and leads to their exclusion. With ongoing expansion of the therapeutic arsenal, we aimed to explore differences in motor function test completion and measurements between Duchenne patients with and without autism spectrum disorder or attention-deficit/hyperactivity disorder in a large tertiary care hospital's pediatric neuromuscular clinic. We identified significantly lower rates of motor function testing and motor function test scores among Duchenne patients with autism or attention-deficit/hyperactivity disorder. These findings underscore the need for adequate opportunity to complete motor function testing in those patients. Alternatively, the Duchenne community could consider validating more patient-reported outcomes and wearable device outcome measures in trials that families of children with neurodevelopmental disorders could more easily use. These interventions would improve equitable access to new therapies for patients with severe behavioral issues and allow researchers to track broader clinical outcomes among all patients as the Duchenne treatment landscape expands.
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Affiliation(s)
- Dennis Keselman
- Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA; Perelman School of Medicine at the University of Pennsylvania, Department of Neurology, Pennsylvania, USA.
| | - Allan Glanzman
- Department of Physical Therapy, Children's Hospital of Philadelphia, Pennsylvania, USA
| | | | - Laura A Prosser
- Division of Rehabilitation Medicine, Children's Hospital of Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania,Philadelphia, USA
| | - Jennifer McGuire
- Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA; Perelman School of Medicine at the University of Pennsylvania, Department of Neurology, Pennsylvania, USA
| | - Susan E Matesanz
- Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA; Perelman School of Medicine at the University of Pennsylvania, Department of Neurology, Pennsylvania, USA
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Nojiri E, Takase K. Understanding Sensory-Motor Disorders in Autism Spectrum Disorders by Extending Hebbian Theory: Formation of a Rigid-Autonomous Phase Sequence. PERSPECTIVES ON PSYCHOLOGICAL SCIENCE 2025; 20:276-289. [PMID: 37910043 DOI: 10.1177/17456916231202674] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/03/2023]
Abstract
Autism spectrum disorder is a neuropsychiatric disorder characterized by persistent deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. The symptoms invariably appear in early childhood and cause significant impairment in social, occupational, and other important functions. Various abnormalities in the genetic, neurological, and endocrine systems of patients with autism spectrum disorder have been reported as the etiology; however, no clear factor leading to the onset of the disease has been identified. Additionally, higher order cognitive dysfunctions, which are represented by a lack of theory of mind, sensorimotor disorders, and memory-related disorders (e.g., flashbacks), have been reported in recent years, but no theoretical framework has been proposed to explain these behavioral abnormalities. In this study, we extended Hebb's biopsychology theory to provide a theoretical framework that comprehensively explains the various behavioral abnormalities observed in autism spectrum disorder. Specifically, we propose that a wide range of symptoms in autism spectrum disorder may be caused by the formation of a rigid-autonomous phase sequence (RAPS) in the brain. Using the RAPS formation theory, we propose a biopsychological mechanism that could be a target for the treatment of autism spectrum disorders.
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21
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Witke W, Di Domenico M, Maggi L, Di Nardo A, Stein V, Pilo Boyl P. Autism spectrum disorder related phenotypes in a mouse model lacking the neuronal actin binding protein profilin 2. Front Cell Neurosci 2025; 19:1540989. [PMID: 40078324 PMCID: PMC11897305 DOI: 10.3389/fncel.2025.1540989] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2024] [Accepted: 02/10/2025] [Indexed: 03/14/2025] Open
Abstract
Introduction Profilin 2 (PFN2) is an actin binding protein highly expressed in the brain that participates in actin dynamics. It has been shown in vitro and in vivo that in neurons it functions both post-synaptically to shape and maintain dendritic arborizations and spine density and plasticity, as well as pre-synaptically to regulate vesicle exocytosis. PFN2 was also found in protein complexes with proteins that have been implicated in or are causative of autism spectrum disorder. Methods We employ a genetically engineered knock-out mouse line for Pfn2 that we previously generated to study the mouse social, vocal and motor behavior in comparison to wild type control littermates. We also study neuronal physiology in the knock-out mouse model by means of cellular and field electrophysiological recordings in cerebellar Purkinje cells and in the Schaffer collaterals. Lastly, we study anatomical features of the cerebellum using immunofluorescence stainings. Results We show that PFN2 deficiency reproduces a number of autistic-like phenotypes in the mouse, such as social behavior impairment, stereotypic behavior, altered vocal communication, and deficits in motor performance and coordination. Our studies correlate the behavioral phenotypes with increased excitation/inhibition ratio in the brain, due to brain-wide hyperactivity of glutamatergic neurons and increased glutamate release not compensated by enhanced GABAergic neurotransmission. Consequently, lack of PFN2 caused seizures behavior and age-dependent loss of cerebellar Purkinje cells, comorbidities observed in a subset of autistic patients, which can be attributed to the effect of excessive glutamatergic neurotransmission. Discussion Our data directly link altered pre-synaptic actin dynamics to autism spectrum disorder in the mouse model and support the hypothesis that synaptic dysfunctions that asymmetrically increase the excitatory drive in neuronal circuits can lead to autistic-like phenotypes. Our findings inspire to consider novel potential pathways for therapeutic approaches in ASD.
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Affiliation(s)
- Walter Witke
- Institute of Genetics, University of Bonn, Bonn, Germany
| | | | - Laura Maggi
- Dipartimento di Fisiologia e Farmacologia, Research Center of Neuroscience “CRiN-Daniel Bovet”, University Sapienza Rome, Rome, Italy
| | | | - Valentin Stein
- Institute of Physiology II, Faculty of Medicine, University of Bonn, Bonn, Germany
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22
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Verbecque E, Johnson C, Scaccabarozzi G, Molteni M, Klingels K, Crippa A. Motor difficulties in children with neurodevelopmental conditions: a report from a cross-national study in Belgian and Italian children. Eur J Pediatr 2025; 184:174. [PMID: 39904911 DOI: 10.1007/s00431-025-06009-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/20/2024] [Revised: 12/20/2024] [Accepted: 01/26/2025] [Indexed: 02/06/2025]
Abstract
Motor behavior alterations are common in neurodevelopmental disorders (NDDs), including autism, developmental coordination disorder (DCD), and attention deficit hyperactivity disorder (ADHD), but the extent of motor impairment remains unclear. In autism and ADHD, motor difficulties may be linked to co-occurring DCD, which often goes unrecognized. We aimed to map the prevalence of DCD in autism and ADHD, and to explore motor skill difficulties using the Movement Assessment Battery for Children-2 (MABC-2), by comparing children with typical motor development (TMD) with those who have NDDs, and by identifying specific profiles among NDDs. A combined sample of participants (n = 215), including autistic children with(out) intellectual disability (ID) and children with ADHD, DCD, and TMD, performed the MABC-2. Depending on co-occurring DCD/ID, subgroups were composed: autism-only (n = 17), autism + ID (n = 17), autism + DCD (n = 40), ADHD-only (n = 14), ADHD + DCD (n = 12), DCD (n = 25), and TMD (n = 59). MABC-2 differences between TMD/NDDs (Mann-Whitney U test) and among NDDs (Kruskal-Wallis test) were assessed. DCD occurred in 70.2% of the autistic children without ID and in 46.2% of those with ADHD. Children with NDDs performed significantly worse than the TMD (p < 0.001). Manual dexterity skills, aiming and catching, and balance were significantly different across the NDD subgroups (p ≤ 0.001). Particularly children with ( +)DCD and autism + ID performed worse on manual dexterity skills. Children with ( +)DCD were outperformed on aiming and catching. All subgroups, except the ADHD-only group, performed poorly on balance. CONCLUSION Distinct motor difficulties were identified across various NDDs. Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping. WHAT IS KNOWN • Despite the common occurrence of motor behavior in neurodevelopmental disorders, the extent of motor impairment remains unclear. • Motor difficulties in autism and ADHD may be linked to co-occurring DCD, which often goes unrecognized. WHAT IS NEW • DCD occurred in 70% of the autistic children without ID and in 46% of those with ADHD. • Children with co-occurring ID or DCD exhibit unique challenges, stressing the importance of motor profile subgrouping.
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Affiliation(s)
- Evi Verbecque
- Rehabilitation Research Centre (REVAL), Faculty of Rehabilitation Sciences, Hasselt University, 3590, Diepenbeek, Belgium.
| | - Charlotte Johnson
- Rehabilitation Research Centre (REVAL), Faculty of Rehabilitation Sciences, Hasselt University, 3590, Diepenbeek, Belgium
- Research Group MOVANT, Department of Rehabilitation Sciences and Physiotherapy (REVAKI), University of Antwerp, 2610, Wilrijk, Belgium
| | - Gaia Scaccabarozzi
- Scientific Institute, IRCCS E. Medea, 23842, Bosisio Parini, Lecco, Italy
| | - Massimo Molteni
- Scientific Institute, IRCCS E. Medea, 23842, Bosisio Parini, Lecco, Italy
| | - Katrijn Klingels
- Rehabilitation Research Centre (REVAL), Faculty of Rehabilitation Sciences, Hasselt University, 3590, Diepenbeek, Belgium
| | - Alessandro Crippa
- Scientific Institute, IRCCS E. Medea, 23842, Bosisio Parini, Lecco, Italy.
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Mazzarella J, Heathcock JC. A Randomized Feasibility Study of Rehabilitation Targeting Upper Extremity Function and Participation Using Hippotherapy and the Equine Environment for Children with Cerebral Palsy and Autism Spectrum Disorder. JOURNAL OF INTEGRATIVE AND COMPLEMENTARY MEDICINE 2025; 31:196-208. [PMID: 39515374 DOI: 10.1089/jicm.2024.0292] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/16/2024]
Abstract
Introduction: Children with upper extremity neuromotor impairments often have decreased participation in life activities. Hippotherapy and rehabilitation in the equine environment might be effective in targeting participation, given the community context and natural activity involvement. This randomized controlled feasibility trial assessed recruitment, retention, treatment fidelity, and acceptability of rehabilitation using hippotherapy and the equine environment, targeting upper extremity function and participation for children with neuromotor impairments to inform a larger trial. Methods: This 6-month trial occurred in Ohio, June-December 2021. Participants were 6-17 years old with upper extremity neuromotor impairment (and primary diagnosis of cerebral palsy and/or autism). Participants were randomized into treatment or waitlist control using REDCap. Treatment was 16 h (4 h/week/4 weeks) of rehabilitation using hippotherapy and the equine environment. Control participants completed a 4-week waiting period, then received the treatment. Recruitment, screening, enrollment, attendance, and retention were tracked. Nonblinded assessments of body structures and functions, activity, and participation were administered pre- and postcontrol and treatment. Assessment measure completion, treatment fidelity, and acceptability were recorded. Results: Twenty-six participants were screened between July and October 2021; 77% (20/26) met inclusion criteria; 70% (14/20) enrolled and randomized: 6 control and 8 treatment. Two withdrew after randomization and one was excluded for fear of horses. In total, n = 5 control and n = 6 treatment completed initial assessment. Retention was 80% (4/5) control and 83% (5/6) treatment, just below the a priori criteria (85%). Assessment measure completion was variable (77%-100%) and replacement of some should be considered before advancing to a clinical trial. Treatment fidelity and acceptability were moderate to high. There were no adverse events from study participation. Conclusions: Results demonstrated preliminary evidence of fidelity and acceptability of rehabilitation using hippotherapy and the equine environment for children with upper extremity neuromotor impairments. Some changes should be made to improve enrollment, retention, and outcome measure completion before advancing to a definitive trial. Trial registration: ClinicalTrials.gov identifier: NCT0653068. Trial funding: Eunice Kennedy Shriver National Institute of Child Health and Human Development, Foundation for Physical Therapy Research, American Academy of Cerebral Palsy and Developmental Medicine, and Pedal With Pete Foundation.
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Affiliation(s)
- Julia Mazzarella
- School of Physical Therapy and Rehabilitation Science, College of Health, University of Montana, Missoula, MT, USA
| | - Jill C Heathcock
- Division of Physical Therapy, School of Health and Rehabilitation Science, College of Medicine, The Ohio State University, Columbus, OH, USA
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Criss SD, Fajardo M, Lee SW, Dubon M, May CJ. The Healthcare Experience of Autistic Patients in Orthopaedic Surgery: A Survey Study of Autistic Patients' Parents, Caregivers, and Orthopaedic Providers. JOURNAL OF THE PEDIATRIC ORTHOPAEDIC SOCIETY OF NORTH AMERICA 2025; 10:100138. [PMID: 40433573 PMCID: PMC12088304 DOI: 10.1016/j.jposna.2024.100138] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/23/2024] [Revised: 10/14/2024] [Accepted: 10/14/2024] [Indexed: 05/29/2025]
Abstract
Background Autistic patients can have different communication and sensory needs, potentially making orthopaedic visits stressful. This study evaluated which factors play the greatest role in autistic patients' comfort and overall experience in orthopaedic settings by surveying the parents, caregivers, and orthopaedic providers of these patients. Methods We developed two online surveys focused on the experience of autistic patients in orthopaedic settings: one for parents/caregivers and another for orthopaedic surgeons. Parents/caregivers of patients under 26 years of age with a diagnosis of autism spectrum disorder (ASD) and an orthopaedic visit at a single pediatric institution between 2017 and 2022 were eligible. The provider survey was sent via email to members of the Pediatric Orthopaedic Society of North America (POSNA). Results Parent/caregiver survey: In total, 83 parents/caregivers (mean patient age: 12, 77% male) provided complete responses. The most anxiety-provoking situations included blood draws (49% of patients beyond neutral anxiety level), loud/unfamiliar noises (42%), getting imaging (38%), casting (35%), and cast removal (34%). Parents/caregivers noted that purposeful eye contact, explanations in advance, and use of technology helped improve patient comfort.Provider survey: In total, 61 orthopaedic surgeons responded. The majority of providers reported being aware of an ASD diagnosis in their patients some (48%) or most (40%) of the time. Situations that make autistic patients more anxious/uncomfortable than nonautistic patients included cast removal (80% of respondents), loud/unexpected sounds (77%), imaging (70%), and the physical exam (62%). The most common accommodations in place included child life specialists (53%) and ear plugs/headphones (51%); 18% reported no accommodations. Most providers changed their approach to visits with autistic patients, including discussions with parent/caregiver about patient's preferences (66%) and more time in the room (54%). Conclusions Orthopaedic practices looking to improve autistic patient experience can prioritize interventions that lower the sensory demands of cast removal, brace fitting, and radiologic imaging. Orthopaedic surgeons are broadly cognizant of the challenges autistic patients face during clinical visits, but improved awareness and accommodations are necessary. Key Concepts (1)Autistic patients can have different communication and sensory needs, potentially making orthopaedic visits stressful and uncomfortable.(2)We surveyed parents/caregivers of autistic patients treated at a single pediatric institution, as well as a national sample of orthopaedic surgeons, regarding the experiences of autistic patients in orthopaedic settings and the factors that make the greatest impact on their experiences.(3)According to autistic patients' parents/caregivers, the most anxiety-provoking situations were those that involved high sensory loads and/or discomfort, though patient experience can be improved with purposeful eye contact, thorough explanations, and use of technology or distraction devices.(4)According to orthopaedic providers, most practices used accommodations to improve autistic patient experience, though 18% of practices had no accommodations in place and provider approaches to visits with autistic patients were variable.(5)Orthopaedic practices looking to improve autistic patient experience can prioritize interventions that lower the sensory demands of clinical visits and expand baseline accommodations available. Level of Evidence IV.
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Affiliation(s)
- Steven D. Criss
- Stanford Health Care, Department of Orthopedic Surgery, Redwood City, CA, USA
- Boston Children's Hospital, Department of Orthopedic Surgery, Boston, MA, USA
| | - Maya Fajardo
- Boston Children's Hospital, Department of Orthopedic Surgery, Boston, MA, USA
| | - Sang Won Lee
- Boston Children's Hospital, Department of Orthopedic Surgery, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
| | - Mary Dubon
- Boston Children's Hospital, Department of Orthopedic Surgery, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
| | - Collin J. May
- Boston Children's Hospital, Department of Orthopedic Surgery, Boston, MA, USA
- Harvard Medical School, Boston, MA, USA
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25
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da Silva SH, Felippin MR, de Oliveira Medeiros L, Hedin-Pereira C, Nogueira-Campos AA. A scoping review of the motor impairments in autism spectrum disorder. Neurosci Biobehav Rev 2025; 169:106002. [PMID: 39756718 DOI: 10.1016/j.neubiorev.2025.106002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2024] [Revised: 10/23/2024] [Accepted: 01/01/2025] [Indexed: 01/07/2025]
Abstract
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder mainly defined by impairments in communication and socialization. Although motor symptoms are not typically considered central to the disease, their high frequency and early onset have been recurrently reported in the literature. Therefore, this scoping review provides a broad description of these motor impairments across all ages, as well as a discussion of their relevance and relation to other clinical aspects of ASD. The scientific search was carried out in Scopus, Pubmed, Embase, and Web of Science databases. Nineteen studies were selected after applying the eligibility criteria. The studies analyzed 784 participants diagnosed with ASD compared to 540 controls. Motor function was assessed by means of varied kinds of scales and questionnaires. The main motor domains evaluated included features of fine and gross motor skills, manual dexterity, coordination/motor control/praxis, balance, running speed/agility, strength, gait, whole-body movements, aiming and catching (ball skills), and repetitive movements. Motor impairments are consistently observed in ASD from the first years of life, persisting into adulthood. It includes a significant deficit in performance of manual, posture, strength, and gait behavior/skills. The deficits described in ASD comprised impairments in fine and gross motor skills, lower balance, lower cadence, and greater variation of gait control, as well as weakness among other features that leads this population to move in an adaptive way affecting their interactions in real life.
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Affiliation(s)
- Samara Helena da Silva
- Laboratory of Cognitive Neurophysiology (LabNeuro), Institute of Biological Sciences, Department of Biophysics and Physiology, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil; Post-Graduation Program in Rehabilitation Sciences and Physical-Functional Performance, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil
| | - Matheus Ribeiro Felippin
- Laboratory of Cognitive Neurophysiology (LabNeuro), Institute of Biological Sciences, Department of Biophysics and Physiology, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil; Graduate Program in Biological Sciences (Biophysics), Carlos Chagas Filho Institute of Biophysics, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil
| | - Letícia de Oliveira Medeiros
- Laboratory of Cognitive Neurophysiology (LabNeuro), Institute of Biological Sciences, Department of Biophysics and Physiology, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil; Post-Graduation Program in Rehabilitation Sciences and Physical-Functional Performance, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil
| | - Cecília Hedin-Pereira
- Graduate Program in Biological Sciences (Biophysics), Carlos Chagas Filho Institute of Biophysics, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil; Vice-Presidency of Research and Biological Collections, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil; National Institute of Neuroimmunomodulation - INCT-NIM
| | - Anaelli Aparecida Nogueira-Campos
- Laboratory of Cognitive Neurophysiology (LabNeuro), Institute of Biological Sciences, Department of Biophysics and Physiology, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil; Post-Graduation Program in Rehabilitation Sciences and Physical-Functional Performance, Federal University of Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil.
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26
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Kougias DG, Atillasoy E, Southall MD, Scialli AR, Ejaz S, Chu C, Jeminiwa BO, Massarsky A, Unice KM, Schaeffer TH, Kovochich M. A quantitative weight-of-evidence review of preclinical studies examining the potential developmental neurotoxicity of acetaminophen. Crit Rev Toxicol 2025; 55:124-178. [PMID: 39982125 DOI: 10.1080/10408444.2024.2442344] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/31/2024] [Revised: 11/21/2024] [Accepted: 12/05/2024] [Indexed: 02/22/2025]
Abstract
Acetaminophen [paracetamol; N-acetyl-para-aminophenol (APAP)] is an antipyretic/analgesic commonly used in the treatment of fever and mild to moderate pain, headache, myalgia, and dysmenorrhea. Recent literature has questioned the safety of acetaminophen use during pregnancy, with an emphasis on whether exposure to the developing nervous system results in behavioral changes consistent with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or other cognitive deficits in the offspring. No previous review has used a fully detailed, quantitative weight-of-evidence (QWoE) approach to critically examine the preclinical acetaminophen data with regards to potential developmental neurotoxicity (DNT). Following regulatory guidance, a QWoE framework using prespecified scoring criteria was developed consistent with previous approaches to characterize potential adverse DNT outcomes with considerations for biological relevance of the response to adverse outcomes (outcome score) and the strength of methods and study design (methods score). Considerations for the methods score included (1) experimental design, (2) details/reliability of measurement(s), (3) data transparency, and (4) translational/methodological relevance. Considerations for the outcome score included response-related (1) statistical significance, (2) dose-response, (3) relevance/reliability/magnitude, (4) plausibility, and (5) translational relevance, including consideration of systemic toxicity/hepatotoxicity and therapeutic and/or non-systemically toxic doses and durations of use. Application of this QWoE framework to the 34 in vivo studies identified that assess the potential DNT of acetaminophen resulted in 188 QWoE entries documented across 11 DNT endpoints: social behavior, stereotypic behavior, behavioral rigidity, attention/impulsivity, hyperactivity, anxiety-like behavior, sensorimotor function, spatial learning/memory, nonspatial learning/memory, neuroanatomy, and neurotransmission. For each endpoint, the mean outcome score and methods score were calculated for total entries and for entries segregated by sex to assist in determining data quality and potential adversity. Informed by all 188 entries, the QWoE analysis demonstrated data of moderate quality showing no consistent evidence of DNT in male and female rodents following exposure to acetaminophen at therapeutic and/or nonsystemically toxic doses. Although some of the DNT endpoints (behavioral rigidity, attention/impulsivity, spatial learning/memory, neuroanatomy, and neurotransmission) generally displayed a more limited dataset and/or relatively lower data quality, similar conclusions were drawn based on results indicating a lack of biological relevance and reliability of reported adverse effects. Overall, this QWoE analysis on the preclinical in vivo data demonstrates no consistent evidence of adverse effects following developmental exposure to acetaminophen at therapeutic and/or non-systemically toxic doses on the structure and function of the nervous system, including neuroanatomical, neurotransmission, and behavioral endpoints.
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Affiliation(s)
| | - Evren Atillasoy
- Kenvue Medical Clinical and Safety Sciences, Fort Washington, PA, USA
| | | | - Anthony R Scialli
- Reproductive Toxicology Center, A Non-Profit Foundation, Washington, DC, USA
| | - Sadaff Ejaz
- Kenvue Medical Clinical and Safety Sciences, Skillman, NJ, USA
| | - Christopher Chu
- Kenvue Medical Clinical and Safety Sciences, Skillman, NJ, USA
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Lundy KM, Fischer AJ, Illapperuma-Wood CR, Schultz B. Understanding autistic youths' menstrual product preferences and caregivers' product choices. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2025; 29:447-461. [PMID: 39215445 DOI: 10.1177/13623613241275280] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 09/04/2024]
Abstract
LAY ABSTRACT There is little research exploring the menstrual product preferences of autistic youth, especially those who recently started their period. Study authors surveyed caregivers' choice of menstrual products for their autistic children. They provided popular menstrual materials to autistic youth to try, then asked them which product(s) they preferred, did not try, and why they did not try it. Caregivers selected sensory impact as the most important feature they consider when choosing a menstrual product for their child, and youth participants preferred to use period underwear. Therefore, autistic youth may benefit from purchasing and using period underwear, and caregivers, clinicians, and companies should consider the impact of menstrual product features, like sensory sensitivities, on young autistic menstruators and how best to support them.
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28
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Qi K, Xu Q, Meng S, Xu D, Guo S, Chen A. Effect of physical activity on motor disorders in children with autism spectrum disorder: a systematic review and meta-analysis. INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES 2025:1-13. [DOI: 10.1080/20473869.2025.2452868] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/30/2024] [Revised: 12/23/2024] [Accepted: 01/04/2025] [Indexed: 04/02/2025]
Affiliation(s)
- Kai Qi
- Gdansk University of Physical Education and Sport, Gdansk, Poland
- School of Sport and Brain Health, Nanjing Sport Institute, Nanjing, China
| | - Qi Xu
- Gdansk University of Physical Education and Sport, Gdansk, Poland
| | | | - Decheng Xu
- School of Sport and Brain Health, Nanjing Sport Institute, Nanjing, China
- Yangzhou University, Yangzhou, China
| | - Shuai Guo
- Guangdong Ocean University, Zhanjiang, China
| | - Aiguo Chen
- School of Sport and Brain Health, Nanjing Sport Institute, Nanjing, China
- Nanjing Sport Institute, Nanjing, China
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29
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Vaissiere T, Michaelson SD, Creson T, Goins J, Fürth D, Balazsfi D, Rojas C, Golovin R, Meletis K, Miller CA, O'Connor D, Fontolan L, Rumbaugh G. Syngap1 promotes cognitive function through regulation of cortical sensorimotor dynamics. Nat Commun 2025; 16:812. [PMID: 39827187 PMCID: PMC11743135 DOI: 10.1038/s41467-025-56125-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2023] [Accepted: 01/07/2025] [Indexed: 01/22/2025] Open
Abstract
Perception, a cognitive construct, emerges through sensorimotor integration (SMI). The genetic mechanisms that shape SMI required for perception are unknown. Here, we demonstrate in mice that expression of the autism/intellectual disability gene, Syngap1, in cortical excitatory neurons is required for the formation of somatomotor networks that promote SMI-mediated perception. Cortical Syngap1 expression was necessary and sufficient for setting tactile sensitivity, sustaining tactile object exploration, and promoting tactile learning. Mice with deficient Syngap1 expression exhibited impaired neural dynamics induced by exploratory touches within a cortical-thalamic network that promotes attention and perception. Disrupted neuronal dynamics were associated with circuit-specific long-range synaptic connectivity abnormalities. Our data support a model where autonomous Syngap1 expression in cortical excitatory neurons promotes cognitive abilities through the assembly of long-range circuits that integrate temporally-overlapping sensory and motor signals, a process that promotes perception and attention. These data provide systems-level insights into the robust association between Syngap1 expression and cognitive ability.
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Affiliation(s)
- Thomas Vaissiere
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Sheldon D Michaelson
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Thomas Creson
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Jessie Goins
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Daniel Fürth
- SciLifeLab, Department of Immunology, Genetics & Pathology, Uppsala University, Uppsala, Sweden
| | - Diana Balazsfi
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Camilo Rojas
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | - Randall Golovin
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
| | | | - Courtney A Miller
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA
- Department of Molecular Medicine, UF Scripps Biomedical Research, Jupiter, FL, USA
| | - Daniel O'Connor
- Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
| | - Lorenzo Fontolan
- Aix-Marseille Université, INSERM, INMED, Turing Centre for Living Systems, Marseille, France
| | - Gavin Rumbaugh
- Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, Jupiter, FL, USA.
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Lafleur A, Caron V, Forgeot d'Arc B, Soulières I. Atypical implicit and explicit sense of agency in autism: A complete characterization using the cue integration approach. Q J Exp Psychol (Hove) 2025:17470218241311582. [PMID: 39704361 DOI: 10.1177/17470218241311582] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2024]
Abstract
There exist indications that sense of agency (SoA), the experience of being the cause of one's own actions and actions' outcomes, is altered in autism. However, no studies in autism have simultaneously investigated the integration mechanisms underpinning both implicit and explicit SoA, the two levels of agency proposed by the innovative cue integration approach. Our study establishes a first complete characterization of SoA functioning in autism, by comparing age- and IQ-matched samples of autistic versus neurotypical adults. Intentional binding and judgments of agency were used to assess implicit and explicit SoA over pinching movements with visual outcomes. Sensorimotor and contextual cues were manipulated using feedback alteration and induced belief about the cause of actions' outcome. Implicit SoA was altered in autism, as showed by an overall abolished intentional binding effect and greater inter-individual heterogeneity. At the explicit level, we observed under-reliance on retrospective sensorimotor cues. The implicit-explicit dynamic was also altered in comparison to neurotypical individuals. Our results show that both implicit and explicit levels of SoA, as well as the dynamic between the two levels, present atypicalities in autism.
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Affiliation(s)
- Alexis Lafleur
- Psychology Department, Université du Québec à Montréal, Montréal, QC, Canada
| | - Vicky Caron
- Psychology Department, Université du Québec à Montréal, Montréal, QC, Canada
| | - Baudouin Forgeot d'Arc
- Département de Psychiatrie et d'addictologie, Université de Montréal & Centre de recherche Azrieli du CHU Sainte-Justine, Montréal, Canada
| | - Isabelle Soulières
- Psychology Department, Université du Québec à Montréal, Montréal, QC, Canada
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31
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Ganai UJ, Ratne A, Bhushan B, Venkatesh KS. Early detection of autism spectrum disorder: gait deviations and machine learning. Sci Rep 2025; 15:873. [PMID: 39757284 PMCID: PMC11701103 DOI: 10.1038/s41598-025-85348-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/16/2024] [Accepted: 01/02/2025] [Indexed: 01/07/2025] Open
Abstract
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder diagnosed by clinicians and experts through questionnaires, observations, and interviews. Current diagnostic practices focus on social and communication impairments, which often emerge later in life. This delay in detection results in missed opportunities for early intervention. Gait, a motor behavior, has been previously shown to be aberrant in children with ASD and may be a biomarker for early detection and diagnosis of ASD. The current study assessed gait in children with ASD using a single RGB camera-based pose estimation method by MediaPipe (MP). Data from 32 children with ASD and 29 typically developing (TD) children were collected. The ASD group exhibited significantly reduced step length and right elbow° and increased right shoulder° relative to TD children. Four machine learning (ML) algorithms were employed to classify the ASD and TD children based on the statistically significant gait parameters. The binomial logistic regression (Logit) performed the best, with an accuracy of 0.82, in classifying the ASD and TD children. The present study demonstrates the use of gait analysis and ML techniques for the early detection of ASD.
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Affiliation(s)
- Umer Jon Ganai
- School of Liberal Studies and Media, UPES, Kandoli, Uttarakhand, India.
| | - Aditya Ratne
- Department of Electrical Engineering, Indian Institute of Technology Kanpur, Kalyanpur, India
| | - Braj Bhushan
- Department of Humanities and Social Sciences, Indian Institute of Technology Kanpur, Kalyanpur, India
| | - K S Venkatesh
- Department of Electrical Engineering, Indian Institute of Technology Kanpur, Kalyanpur, India
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Butera C, Delafield-Butt J, Lu SC, Sobota K, McGowan T, Harrison L, Kilroy E, Jayashankar A, Aziz-Zadeh L. Motor Signature Differences Between Autism Spectrum Disorder and Developmental Coordination Disorder, and Their Neural Mechanisms. J Autism Dev Disord 2025; 55:353-368. [PMID: 38062243 PMCID: PMC11802596 DOI: 10.1007/s10803-023-06171-8] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/25/2023] [Indexed: 02/07/2025]
Abstract
Autism spectrum disorder (ASD) and Developmental Coordination Disorder (DCD) are distinct clinical groups with overlapping motor features. We attempted to (1) differentiate children with ASD from those with DCD, and from those typically developing (TD) (ages 8-17; 18 ASD, 16 DCD, 20 TD) using a 5-min coloring game on a smart tablet and (2) identify neural correlates of these differences. We utilized standardized behavioral motor assessments (e.g. fine motor, gross motor, and balance skills) and video recordings of a smart tablet task to capture any visible motor, behavioral, posture, or engagement differences. We employed machine learning analytics of motor kinematics during a 5-min coloring game on a smart tablet. Imaging data was captured using functional magnetic resonance imaging (fMRI) during action production tasks. While subject-rated motor assessments could not differentiate the two clinical groups, machine learning computational analysis provided good predictive discrimination: between TD and ASD (76% accuracy), TD and DCD (78% accuracy), and ASD and DCD (71% accuracy). Two kinematic markers which strongly drove categorization were significantly correlated with cerebellar activity. Findings demonstrate unique neuromotor patterns between ASD and DCD relate to cerebellar function and present a promising route for computational techniques in early identification. These are promising preliminary results that warrant replication with larger samples.
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Affiliation(s)
- Christiana Butera
- USC Mrs. T.H. Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, USA.
- Brain and Creativity Institute, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, USA.
| | - Jonathan Delafield-Butt
- Laboratory for Innovation in Autism, University of Strathclyde, Glasgow, Scotland, UK
- Faculty of Humanities and Social Sciences, University of Strathclyde, Glasgow, Scotland, UK
| | - Szu-Ching Lu
- Laboratory for Innovation in Autism, University of Strathclyde, Glasgow, Scotland, UK
- Faculty of Humanities and Social Sciences, University of Strathclyde, Glasgow, Scotland, UK
| | | | - Timothy McGowan
- Laboratory for Innovation in Autism, University of Strathclyde, Glasgow, Scotland, UK
- Faculty of Humanities and Social Sciences, University of Strathclyde, Glasgow, Scotland, UK
| | - Laura Harrison
- USC Mrs. T.H. Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, USA
- Brain and Creativity Institute, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, USA
| | - Emily Kilroy
- USC Mrs. T.H. Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, USA
- Brain and Creativity Institute, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, USA
| | - Aditya Jayashankar
- USC Mrs. T.H. Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, USA
- Brain and Creativity Institute, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, USA
| | - Lisa Aziz-Zadeh
- USC Mrs. T.H. Chan Division of Occupational Science and Occupational Therapy, University of Southern California, Los Angeles, CA, USA
- Brain and Creativity Institute, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, USA
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Otterstedt C, Strömsten LMJ, Sandlund J, Johansson GM. Motor proficiency of persons with attention deficit hyperactivity disorder or autism spectrum disorder diagnosed in adulthood. Disabil Rehabil 2025; 47:445-451. [PMID: 38632964 DOI: 10.1080/09638288.2024.2340123] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/26/2023] [Revised: 03/11/2024] [Accepted: 04/01/2024] [Indexed: 04/19/2024]
Abstract
PURPOSE To compare (1) motor proficiency of persons diagnosed in adulthood with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) with normative values of motor proficiency, and (2) motor proficiency between persons with ADHD and those with ASD diagnosed in adulthood. METHODS A total of 153 adults (median age 32 years, 36% women) participated in this cross-sectional study. Fifty-three persons with predominately inattentive presentation (ADHD-I), 67 persons with combined presentation (ADHD-C), and 33 persons with ASD performed the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2). One-sample binominal tests were used to compare motor proficiency against standardized norms of BOT-2 for young adults. One-way ANOVAs and Kruskal-Wallis tests were used to compare test outcomes between the groups. RESULTS The total sample showed significantly impaired motor proficiency in comparison to norms in all test domains (p < 0.001-0.006), except for fine motor skills. The ASD group showed significantly poorer body coordination compared with the ADHD-I and ADHD-C groups, with a moderate effect size (p = 0.003-0.02, η2 = 0.061). CONCLUSIONS Motor proficiency is impaired in most persons with ADHD or ASD diagnosed in adulthood, suggesting that motor assessment should be included in clinical examinations of adults with suspected neurodevelopment disorders.
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Affiliation(s)
- Charlotte Otterstedt
- Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, Umeå, Sweden
| | | | - Jonas Sandlund
- Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, Umeå, Sweden
| | - Gudrun M Johansson
- Department of Community Medicine and Rehabilitation, Physiotherapy, Umeå University, Umeå, Sweden
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Su WC, Srinivasan S, Bhat AN. Effects of Creative Movement, General Movement, or Seated Play Interventions on Motor Performance in Children with Autism Spectrum Disorder: A Pilot Randomized Controlled Trial. RESEARCH IN AUTISM SPECTRUM DISORDERS 2025; 119:102501. [PMID: 39610696 PMCID: PMC11600969 DOI: 10.1016/j.rasd.2024.102501] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/30/2024]
Abstract
Background Children with ASD experience significant gross motor challenges that could be addressed using motor interventions. However, contemporary ASD interventions that are sedentary in nature often target communication and fine motor skills and not children's gross motor difficulties. Methods In the current pilot RCT, we evaluated changes in various motor outcomes (i.e., gross/fine motor coordination, locomotor skills, functional endurance, and praxis/imitation performance) following two types of whole-body motor interventions (Creative Movement (CM) or General Movement (GM)) and compared them to a Sedentary Play (SP) intervention focused on improving fine motor skills in children with ASD. Forty-five children with ASD (Mean Age ±SE: 8.7 ± 0.3, 38 males) were randomly assigned to the CM, GM, or SP groups and received 8 weeks of group-specific training. Results Both CM and GM interventions led to medium-to-large improvements in gross motor performance, including improved body coordination, strength/agility, locomotor skills, and walking endurance. Children in the CM group additionally showed medium-to-large-sized improvements in praxis performance, while children in the SP group showed improvements in fine motor performance. These training-related improvements were supported by improvements reported via parental questionnaires. Conclusions Researchers and clinicians should incorporate whole-body interventions targeting gross motor skills in the plan of care for children with ASD.
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Affiliation(s)
- W C Su
- Department of Physical Therapy, University of Delaware, Newark, DE, USA
- Biomechanics & Movement Science Program, University of Delaware, Newark, DE, USA
| | - S Srinivasan
- Physical Therapy Program, Department of Kinesiology, University of Connecticut, Storrs, CT, USA
- Institute for Health, Intervention, and Policy, University of Connecticut, Storrs, CT, USA
- The Institute for the Brain and Cognitive Sciences, University of Connecticut, Storrs, CT, USA
| | - A N Bhat
- Department of Physical Therapy, University of Delaware, Newark, DE, USA
- Biomechanics & Movement Science Program, University of Delaware, Newark, DE, USA
- Department of Psychological & Brain Sciences, University of Delaware, Newark, DE, USA
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Dionisio J, de Sá CDSC, Lúcio S, de Almeida GN, Cordovil R. Motor Competence in Autistic Children with Attention-Deficit Hyperactivity Disorder. CHILDREN (BASEL, SWITZERLAND) 2024; 11:1518. [PMID: 39767947 PMCID: PMC11674984 DOI: 10.3390/children11121518] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 10/31/2024] [Revised: 12/09/2024] [Accepted: 12/10/2024] [Indexed: 01/11/2025]
Abstract
BACKGROUND/OBJECTIVES Children with autism exhibit deficits in fundamental motor skills, which are intensified when associated with attention-deficit/hyperactivity disorder (ADHD). OBJECTIVE To correlate motor competence in children with autism, autism levels according to the CARS scale, and the association with ADHD. METHODS This cross-sectional study assessed motor competence using the Motor Competence Assessment (MCA), the severity of Autism Spectrum Disorder by Childhood Autism Rating Scale (CARS), and the presence of clinical signs for ADHD using Swanson, Nolan, and Pelham (SNAP-IV) questionnaire. A total of 68 children were recruited; however, 23 were not included due to non-acceptance and/or were excluded because of associated pathologies, high autism severity. Consequently, 45 children (11 with ADHD) between the ages of 5 and 11 (Mean: 8.15; ±1.75) with 83.72% being male. RESULTS Multiple linear regression revealed a significant inverse correlation between MCA scores and raw CARS data (p = 0.01), indicating that greater autism severity is associated with lower motor competence. The correlation was also observed in CARS classifications, with higher autism severity corresponding to lower motor percentiles (p = 0.05). However, the correlation between the presence of ADHD and motor competence in children with ASD did not reach significance. Overall, a significant correlation was observed (p = 0.006) when analyzing all variables (CARS scores, SNAP scores, and CARS classification). CONCLUSION Therefore, it is believed that children with autism exhibit deficits in functional motor skills, with severity impacting motor competence. The findings underscore the need for systematic motor skill assessments in children with autism, emphasizing the importance of monitoring and intervention in this aspect of their development.
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Affiliation(s)
- Jadiane Dionisio
- Faculdade de Educação Física e Fisioterapia, Universidade Federal de Uberlândia, Uberlândia 38400-678, Brazil
| | | | - Susana Lúcio
- CADIn-Neurodesenvolvimento e Inclusão, 2750-782 Cascais, Portugal
| | - Gabriela Neves de Almeida
- Escola de Saúde e Desenvolvimento Humano, Comprehensive Health Research Centre, Universidade de Évora, 7002-554 Évora, Portugal
| | - Rita Cordovil
- CIPER, Faculdade de Motricidade Humana, Universidade de Lisboa, 1499-002 Cruz Quebrada-Dafundo, Portugal;
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Jiang N, Zhang L, Zheng Z, Du H, Chen S, Pan H. Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis. Eur J Hum Genet 2024:10.1038/s41431-024-01754-0. [PMID: 39648204 DOI: 10.1038/s41431-024-01754-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2024] [Revised: 10/17/2024] [Accepted: 11/22/2024] [Indexed: 12/10/2024] Open
Abstract
Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder with considerable clinical heterogeneity. To further characterize the syndrome's heterogeneity, we applied latent class analysis (LCA) on reported cases to identify phenotypic subtypes. By searching PubMed, Embase, China National Knowledge Infrastructure and Wanfang databases from inception to February 2024, we enrolled 97 cases with nonsense, frameshift or missense variants in the AHDC1 gene. LCA was based on the following 6 phenotypes with moderate occurrence and low missingness: ataxia, seizure, autism, sleep apnea, short stature and scoliosis. After excluding cases with missing data on all LCA variables or with unmatched phenotype-genotype information, a total of 85 cases were selected for LCA. Models with 1-5 classes were compared based on Akaike Information Criterion, Bayesian Information Criterion, Sample-Size Adjusted BIC and entropy. We used multinomial logistic regression (MLR) analyses to investigate the phenotype-genotype association and potential predictors for class membership. LCA revealed 3 distinct classes labeled as Ataxia subtype (n = 11 [12.9%]), Sleep apnea & short stature subtype (n = 23 [27.1%]) and Neuropsychological subtype (n = 51 [60.0%]). The commonest Neuropsychological subtype was characterized by high estimated probabilities of seizure, ataxia and autism. By adjusting for sex, age and variant type, MLR showed no significant association between phenotypic subtype and variant position. Age and variant type were identified as predictors of class membership. The findings of this review offer novel insights for different presentations of XGS. It is possible to deliver targeted monitoring and treatment for each subtype in the early stage.
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Affiliation(s)
- Nan Jiang
- 4+4 Medical Doctor Program, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China
| | - Liyuan Zhang
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China
| | - Zeyan Zheng
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China
| | - Hanze Du
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China
| | - Shi Chen
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China.
| | - Hui Pan
- Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China.
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Su WC, Mutersbaugh J, Huang WL, Bhat A, Gandjbakhche A. Using deep learning to classify developmental differences in reaching and placing movements in children with and without autism spectrum disorder. Sci Rep 2024; 14:30283. [PMID: 39632922 PMCID: PMC11618337 DOI: 10.1038/s41598-024-81652-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2024] [Accepted: 11/28/2024] [Indexed: 12/07/2024] Open
Abstract
Autism Spectrum Disorder (ASD) is among the most prevalent neurodevelopmental disorders, yet the current diagnostic procedures rely on behavioral analyses and interviews, without objective screening methods to support the diagnostic process. This study seeks to address this gap by integrating upper limb kinematics and deep learning methods to identify potential biomarkers that could be validated in younger age groups in the future to enhance the identification of ASD. Forty-one school-age children, with and without an ASD diagnosis (mean age ± SE: TD group: 10.3 ± 0.8, 8 males and 7 females; ASD group: 10.3 ± 0.5, 21 males and 5 females), participated in the study. A single Inertial Measurement Unit (IMU) was affixed to the child's wrist as they engaged in a continuous reaching and placing task. Deep learning techniques were employed to classify children with and without ASD. Our findings suggest differential movement kinematics in school-age children compared to healthy adults. Compared to TD children, children with ASD exhibited poor feedforward/feedback control of arm movements as seen by greater number of movement units, more movement overshooting, and prolonged time to peak velocity/acceleration. Unique movement strategies such as greater velocity and acceleration were also seen in the ASD group. More importantly, using Multilayer Perceptron (MLP) model, we demonstrated an accuracy of ~ 78.1% in classifying children with and without ASD. These findings underscore the potential use of studying upper limb movement kinematics during goal-directed arm movements and deep learning methods as valuable tools for classifying and, consequently, aiding in the diagnosis and early identification of ASD upon further validation of their specificity among younger children.
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Affiliation(s)
- Wan-Chun Su
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Building 49, Room 5A82, 49 Convent Drive, Bethesda, MD, 20892-4480, USA
- School of Kinesiology, Louisiana State University, Baton Rouge, LA, USA
| | - John Mutersbaugh
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Building 49, Room 5A82, 49 Convent Drive, Bethesda, MD, 20892-4480, USA
| | - Wei-Lun Huang
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Building 49, Room 5A82, 49 Convent Drive, Bethesda, MD, 20892-4480, USA
- Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA
| | - Anjana Bhat
- Department of Physical Therapy, University of Delaware, Newark, DE, USA
- Biomechanics & Movement Science Program, University of Delaware, Newark, DE, USA
- Department of Psychological & Brain Sciences, University of Delaware, Newark, DE, USA
| | - Amir Gandjbakhche
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Building 49, Room 5A82, 49 Convent Drive, Bethesda, MD, 20892-4480, USA.
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Gonzalez-Herrero B, Happé F, Nicholson TR, Morgante F, Pagonabarraga J, Deeley Q, Edwards MJ. Functional Neurological Disorder and Autism Spectrum Disorder: A Complex and Potentially Significant Relationship. Brain Behav 2024; 14:e70168. [PMID: 39705515 DOI: 10.1002/brb3.70168] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/31/2024] [Revised: 10/25/2024] [Accepted: 11/04/2024] [Indexed: 12/22/2024] Open
Abstract
INTRODUCTION Functional neurological disorder (FND) and autism spectrum disorder (ASD) are two complex neuropsychiatric conditions that have been historically classified within psychiatric domains, resulting in a lack of extensive research, insufficient clinical recognition, and persistent societal stigma. In recent years, there has been an increasing recognition among professionals and affected individuals of their possible overlap. This review explores the potential clinical and mechanistic overlap between FND and ASD, with particular attention to shared symptoms across sensory, motor, and psychiatric domains. METHODS We conducted a narrative analysis utilizing the PubMed, CINAHL, MEDLINE, and ScienceDirect databases from inception to June 2024. The search employed specific MeSH terms related to ASD and FND. Given the limited data availability, we included all relevant articles that explored the potential connections between FND and ASD, focusing on established findings and theoretical hypotheses areas. RESULTS Scientific evidence indicates that FND and ASD may co-occur more frequently than previously acknowledged and with notable overlaps in their clinical presentations and pathophysiology. Theoretical models that have been applied to FND and ASD, such as the Bayesian brain theory and the tripartite model of autism, may provide valuable insights into the intersection of these conditions. Although much of the current evidence remains speculative, it underscores the need for hypothesis-driven research to investigate these potential connections further. CONCLUSION ASD and FND are heterogeneous conditions that appear to co-occur in a subset of individuals, with overlapping symptomatology and possibly shared underlying mechanisms. This hypothesis-generating review emphasizes the need for further research to better understand these links, ultimately aiming to improve clinical recognition and develop targeted interventions that enhance the quality of life for affected individuals.
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Affiliation(s)
- Belen Gonzalez-Herrero
- Departamento de Medicina, Universidad Autónoma de Barcelona (UAB), Bellaterra, Spain
- Neurosciences and Cell Biology Institute, Neuromodulation and Motor Control Section, St George's University of London, London, UK
- Queen's Hospital, Barking, Havering and Redbridge University Hospitals, Romford, UK
| | - Francesca Happé
- Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK
| | - Timothy R Nicholson
- Neuropsychiatry Research & Education Group, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK
| | - Francesca Morgante
- Neurosciences and Cell Biology Institute, Neuromodulation and Motor Control Section, St George's University of London, London, UK
| | - Javier Pagonabarraga
- Departamento de Medicina, Universidad Autónoma de Barcelona (UAB), Bellaterra, Spain
- Instituto de Investigación Biomédica de Sant Pau, Barcelona, Spain
- Centro de Investigación en Red-Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
| | - Quinton Deeley
- Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK
- National Autism Unit, South London and Maudsley NHS Foundation Trust, London, UK
| | - Mark J Edwards
- Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK
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Park S, Cardinaux A, Crozier D, Russo M, Bond S, Kjelgaard M, Sinha P, Sternad D. Interceptive abilities in autism spectrum disorder: Comparing naturalistic and virtual visuomotor tasks. Autism Res 2024; 17:2514-2534. [PMID: 39411921 PMCID: PMC11638935 DOI: 10.1002/aur.3246] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/26/2023] [Accepted: 09/28/2024] [Indexed: 12/14/2024]
Abstract
A growing body of research reveals that autistic individuals exhibit motor coordination challenges. Multiple theoretical frameworks propose that the seemingly disparate features of autism may arise from a common underlying process: a diminished ability to make predictions. Sensorimotor skills, such as catching a ball, critically rely on predicting the ball's trajectory as well as anticipatory coordination of the entire body. Here, we assessed four different naturalistic and virtual interception tasks with 31 neurotypical and 23 autistic children (ages 7-12). In a naturalistic setting, participants caught the ball either with their hands or a hand-held funnel with an enlarged catch area that also prevented the ball from bouncing off. A virtual setup reduced whole-body demands, as children only moved a paddle to catch or bounce a ball on a screen. Control tasks, involving rapid reaching to grasp a static object and quiet standing, which largely eliminated the requirements for prediction, were also tested. Results from all task variations demonstrated that autistic children completed fewer successful interceptions, suggesting that predictive requirements, inherent to all interception tasks, played a critical role. Effect sizes in the virtual tasks were smaller. Correlations of the task metrics with behavioral assessments rendered the strongest correlations with Praxis scores. The control tasks showed no differences between autistic and neurotypical children. These findings lend support to the emerging hypothesis that predictive challenges are present in autism. Further research with larger sample sizes will help identify to what extent these visuomotor differences may inform core domains of autism.
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Affiliation(s)
- Se‐Woong Park
- Department of KinesiologyUniversity of Texas at San AntonioSan AntonioTexasUSA
- Department of BiologyNortheastern UniversityBostonMassachusettsUSA
- Department of Brain and Cognitive SciencesMassachusetts Institute of TechnologyCambridgeMassachusettsUSA
| | - Annie Cardinaux
- Department of Brain and Cognitive SciencesMassachusetts Institute of TechnologyCambridgeMassachusettsUSA
| | - Dena Crozier
- Department of MedicineWashington University School of MedicineSt. LouisMissouriUSA
- Department of PhysicsNortheastern UniversityBostonMassachusettsUSA
| | - Marta Russo
- Department of Neurology, Tor Vergata Polyclinic & Laboratory of Neuromotor PhysiologyFondazione Santa LuciaRomeItaly
| | - Sabrina Bond
- Department of BiologyNortheastern UniversityBostonMassachusettsUSA
- Department of Anesthesiology, Perioperative and Pain MedicineStanford School of MedicinePalo AltoCaliforniaUSA
| | - Margaret Kjelgaard
- Department of Communication Sciences and DisordersBridgewater State UniversityBridgewaterMassachusettsUSA
| | - Pawan Sinha
- Department of Brain and Cognitive SciencesMassachusetts Institute of TechnologyCambridgeMassachusettsUSA
| | - Dagmar Sternad
- Department of BiologyNortheastern UniversityBostonMassachusettsUSA
- Department of PhysicsNortheastern UniversityBostonMassachusettsUSA
- Department of Electrical & Computer EngineeringNortheastern UniversityBostonMassachusettsUSA
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Qiu S, Jia J, Xu B, Wu N, Cao H, Xie S, Cui J, Ma J, Pan YH, Yuan XB. Development and evaluation of an autism pig model. Lab Anim (NY) 2024; 53:376-386. [PMID: 39533118 PMCID: PMC11599057 DOI: 10.1038/s41684-024-01475-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2024] [Accepted: 10/22/2024] [Indexed: 11/16/2024]
Abstract
Developing cost-effective and disease-relevant animal models is essential for advancing biomedical research into human disorders. Here we investigate the feasibility of a pig model for autism spectrum disorder (ASD) using embryonic exposure to valproic acid (VPA), an antiepileptic drug known to increase ASD risk. We established experimental paradigms to assess the behavioral characteristics of these pig models. Administration of VPA to Bama miniature pigs (Sus scrofa domestica) during critical embryonic stages resulted in abnormal gait, increased anxiety levels, reduced learning capabilities and altered social patterns, while largely preserving social preference of treated piglets. Notably, we detected significant neuroanatomical changes in cortical regions associated with ASD in the VPA-treated pigs, including cortical malformation, increased neuronal soma size, decreased dendritic complexity and reduced dendritic spine maturation. Transcriptome analysis of the prefrontal cortex of VPA-treated pigs further revealed substantial alterations in the expression of genes linked to ASD, especially genes of the dopamine signaling pathway, highlighting the model's relevance and potential for shedding light on ASD's underlying neuropathological and molecular mechanisms. These findings suggest that pig models could serve as a promising alternative to traditional rodent models and provide a more ethical substitute for the use of primates in translational research on neurodevelopmental disorders.
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Affiliation(s)
- Shuai Qiu
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Jingyan Jia
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Benlei Xu
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Nan Wu
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Huaqiang Cao
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Shuangyi Xie
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Jialong Cui
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Ji Ma
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China
| | - Yi-Hsuan Pan
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China.
| | - Xiao-Bing Yuan
- Key Laboratory of Brain Functional Genomics of Shanghai and the Ministry of Education, Institute of Brain Functional Genomics, School of Life Science and the Collaborative Innovation Center for Brain Science, East China Normal University, Shanghai, China.
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Meera B, Fields B, Healy S, Columna L. Equine-assisted services for motor outcomes of autistic children: A systematic review. AUTISM : THE INTERNATIONAL JOURNAL OF RESEARCH AND PRACTICE 2024; 28:3002-3014. [PMID: 38813801 DOI: 10.1177/13623613241255294] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/31/2024]
Abstract
LAY ABSTRACT Equine-assisted services use various aspects of horses, like their movement, warmth, and size, to enhance individuals' overall well-being. Many studies have underscored the positive impact of equine-assisted services on autistic children, affecting areas such as social interaction, communication, engagement, stereotypical behaviors, and motor functions. Given the growing recognition of motor functions as clinical specifiers in autism, it is imperative to specifically investigate how equine-assisted services influence these outcomes. To address this, we conducted a systematic review to synthesize existing literature on the effects of equine-assisted services on motor outcomes of autistic children. Our review encompassed study characteristics, features of equine-assisted service interventions, and major motor outcomes. We also evaluated the methodological quality of the equine-assisted service studies to offer insights for future research directions. Through thorough database searches and the use of the standardized procedure of conducting a systematic review (The Preferred Reporting Items for Systematic Reviews and Meta-analyses), 12 research studies were identified and included. These studies reported the effects of various equine-assisted service types (such as therapy, horsemanship, or learning) on motor outcomes of autistic children. Significant enhancements in coordination, strength, balance, posture, and overall motor skills indicate the effectiveness of equine-assisted services in improving motor outcomes of autistic children. Building on these findings, we provide recommendations for future research endeavors aimed at enhancing the reliability and validity of using equine-assisted services to improve motor outcomes of autistic children. This work contributes to a deeper understanding of how equine-assisted services can benefit this population and guides the development of more effective equine-assisted service interventions.
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Karin E, Geva R, Bar-Yehuda S, Estrugo Y, Bauminger-Zviely N. Movement Coordination's Link with Common Ground During Dyadic Peer Discourse in Typically Developing and Autistic Speakers. J Autism Dev Disord 2024:10.1007/s10803-024-06642-6. [PMID: 39570556 DOI: 10.1007/s10803-024-06642-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 10/31/2024] [Indexed: 11/22/2024]
Abstract
Common ground (CG)-a pragmatic capability that reflects the construction of shared meaning by two interlocutors during conversation-is widely accepted as crucial for effective communication, but its exploration has been limited in the context of children's peer-to-peer interaction. Specifically, this study aimed to explore CG differences between typically developing (TD) and autistic populations, CG's developmental trajectories, as well as the link between CG and motor coordination skills during peer interactions. Study participants included 148 children (6-16 years), comparing 64 TD and 84 autistic children across three age levels. Fixed dyads matched on IQ, age, sex, and mother's education performed a CG tangram-card task and complementary joint action (JA) tasks to evaluate peer-to-peer movement coordination. Individual motor skills were also assessed. As expected, both autistic and TD groups showed increasing efficacy over the 6-turn CG task (fewer words and shorter duration to communicate), although autistic participants were less efficient than TD participants. Better motor skills and JA synchronization correlated with both groups' more efficient CG performance. Additionally, the indirect relationship between group (TD/autism) and CG was mediated by motor skills and JA, with age moderating the relationship between JA and CG. Specifically, better motor skills and socio-motor coordination were associated with more efficient CG creation, particularly in younger children (under 10 years). These findings suggest potential novel avenues for early interventions targeting motor and language challenges in autism to enhance pragmatic abilities and peer interactions, offering insights into language development in this population.
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Affiliation(s)
- Einat Karin
- Faculty of Education, Bar-Ilan University, 52900, Ramat-Gan, Israel
| | - Ronny Geva
- Department of Psychology, The Gonda Brain Research Center, Bar-Ilan University, Ramat-Gan, Israel
| | | | - Yael Estrugo
- Faculty of Education, Bar-Ilan University, 52900, Ramat-Gan, Israel
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Zhao Y, Zhao L, Yang F, Tao C, Tang W, Cheng W, Zhang Y, Bu L. Assessing visual motor performance in autistic children based on Kinect and fNIRS: A case study. Neuroscience 2024; 563:10-19. [PMID: 39505138 DOI: 10.1016/j.neuroscience.2024.11.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/21/2024] [Revised: 10/19/2024] [Accepted: 11/02/2024] [Indexed: 11/08/2024]
Abstract
In recent years, the incidence rate of children with autism has shown a significant upward trend. Rehabilitation training is an important part of recovery or improvement in autism children. However, during autism rehabilitation training, the methods that can visually reflect and objectively evaluate its effects are seldom considered. Therefore, this study aimed to objectively evaluate the rehabilitation impact of visual-motor skills training in children with autism via quantitative measures. In this study, vision sensors and functional near-infrared spectroscopy were used to monitor and analyze visual motor training task of 20 autism children. These children were divided into high- and low-score groups according to the autism behavior checklist (ABC). Results showed significant differences between the high- and low-score groups in the brain regions of the left and right temporal lobe, right motor cortex, and left occipital lobe; the difference in functional connectivity was greatest when the left hand was moving at the green light (p < 0.05). The differences in speed, acceleration, and angle between the high- and low-score groups were mainly reflected in left-hand movement. Moreover, analysis of multimodal data showed that visual motor training had a positive effect on brain activation and functional connectivity, and increasing the frequency of left-hand training and using more green light were beneficial to the improvement of brain function. These findings can be used as basis to help optimize rehabilitation programs and improve rehabilitation effectiveness.
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Affiliation(s)
- Yufei Zhao
- School of Mechanical and Electronic Engineering, Shandong Jianzhu University, Jinan 250101, China; Beijing Advanced Innovation Center for Biomedical Engineering, School of Engineering Medicine, Beihang University, Beijing 100083, China
| | - Lei Zhao
- School of Mechanical and Electronic Engineering, Shandong Jianzhu University, Jinan 250101, China.
| | - Fei Yang
- Shandong Labor Vocational and Technical College, Jinan 250022, China
| | - Chunjing Tao
- Beijing Advanced Innovation Center for Biomedical Engineering, School of Engineering Medicine, Beihang University, Beijing 100083, China
| | - Weizhong Tang
- Department of Weizhong Children's Rehabilitation Center, Jinan 250000, China
| | - Wenming Cheng
- Department of Weizhong Children's Rehabilitation Center, Jinan 250000, China
| | - Yu Zhang
- Department of Weizhong Children's Rehabilitation Center, Jinan 250000, China
| | - Lingguo Bu
- Joint SDU-NTU Centre for Artificial Intelligence Research (C-FAIR), Shandong University, Jinan 250100, China.
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Farrell C, Slaughter V, McAuliffe T, Mulvihill A. Participation and Experiences in Extracurricular Activities for Autistic and Neurotypical Children. J Autism Dev Disord 2024; 54:4152-4166. [PMID: 37831305 PMCID: PMC11461762 DOI: 10.1007/s10803-023-06142-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/15/2023] [Indexed: 10/14/2023]
Abstract
Participation in Organised Extracurricular Social Activities (OESA) can provide positive outcomes for children. This study investigated whether children aged 4 to 12 years diagnosed with autism differ in their OESA participation and experience compared to neurotypical peers. Parents of autistic children (n = 35) and those of neurotypical peers (n = 171) responded to questions that asked them to reflect on their child's participation and experiences in OESAs. Parents of autistic children reported significantly less OESA participation compared to parents of neurotypical children. Additionally, when evaluating factors that facilitated OESA participation, parents of autistic children rated their child's individual abilities and behaviour, the OESA's features, and the social environment less positively, compared to parents of neurotypical children. OESA participation and experiences differ for autistic and neurotypical children. This study identifies factors that can be adjusted to mitigate this difference.
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Affiliation(s)
- Callyn Farrell
- School of Psychology, The University of Queensland, Brisbane, QLD, Australia.
- School of Psychology, The University of Queensland, St. Lucia Campus, Level Three, McElwain Building, Brisbane, QLD, 4072, Australia.
| | - Virginia Slaughter
- School of Psychology, The University of Queensland, Brisbane, QLD, Australia
| | - Tomomi McAuliffe
- School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, QLD, Australia
| | - Aisling Mulvihill
- School of Psychology, The University of Queensland, Brisbane, QLD, Australia
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Pirník Z, Szadvári I, Borbélyová V, Tomova A. Altered sex differences related to food intake, hedonic preference, and FosB/deltaFosB expression within central neural circuit involved in homeostatic and hedonic food intake regulation in Shank3B mouse model of autism spectrum disorder. Neurochem Int 2024; 181:105895. [PMID: 39461669 DOI: 10.1016/j.neuint.2024.105895] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2024] [Revised: 10/09/2024] [Accepted: 10/24/2024] [Indexed: 10/29/2024]
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder accompanied by narrow interests, difficulties in communication and social interaction, and repetitive behavior. In addition, ASD is frequently associated with eating and feeding problems. Although the symptoms of ASD are more likely to be observed in boys, the prevalence of eating disorders is more common in females. The ingestive behavior is regulated by the integrative system of the brain, which involves both homeostatic and hedonic neural circuits. Sex differences in the physiology of food intake depend on sex hormones regulating the expression of the ASD-associated Shank genes. Shank3 mutation leads to ASD-like traits and Shank3B -/- mice have been established as an animal model to study the neurobiology of ASD. Therefore, the long-lasting neuronal activity in the central neural circuit related to the homeostatic and hedonic regulation of food intake was evaluated in both sexes of Shank3B mice, followed by the evaluation of the food intake and preference. In the Shank3B +/+ genotype, well-preserved relationships in the tonic activity within the homeostatic neural network together with the relationships between ingestion and hedonic preference were observed in males but were reduced in females. These interrelations were partially or completely lost in the mice with the Shank3B -/- genotype. A decreased hedonic preference for the sweet taste but increased total food intake was found in the Shank3B -/- mice. In the Shank3B -/- group, there were altered sex differences related to the amount of tonic cell activity in the hedonic and homeostatic neural networks, together with altered sex differences in sweet and sweet-fat solution intake. Furthermore, the Shank3B -/- females exhibited an increased intake and preference for cheese compared to the Shank3B +/+ ones. The obtained data indicate altered functional crosstalk between the central homeostatic and hedonic neural circuits involved in the regulation of food intake in ASD.
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Affiliation(s)
- Zdenko Pirník
- Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia; Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Prague, Czech Republic.
| | - Ivan Szadvári
- Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia
| | - Veronika Borbélyová
- Institute of Molecular Biomedicine, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia
| | - Aleksandra Tomova
- Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia
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Ohmoto Y, Terada K, Shimizu H, Kawahara H, Iwanaga R, Kumazaki H. Machine learning's effectiveness in evaluating movement in one-legged standing test for predicting high autistic trait. Front Psychiatry 2024; 15:1464285. [PMID: 39483737 PMCID: PMC11524919 DOI: 10.3389/fpsyt.2024.1464285] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/13/2024] [Accepted: 09/30/2024] [Indexed: 11/03/2024] Open
Abstract
Introduction Research supporting the presence of diverse motor impairments, including impaired balance coordination, in children with autism spectrum disorder (ASD) is increasing. The one-legged standing test (OLST) is a popular test of balance. Since machine learning is a powerful technique for learning predictive models from movement data, it can objectively evaluate the processes involved in OLST. This study assesses machine learning's effectiveness in evaluating movement in OLST for predicting high autistic trait. Methods In this study, 64 boys and 62 girls participated. The participants were instructed to stand on one leg on a pressure sensor while facing the experimenter. The data collected in the experiment were time-series data pertaining to pressure distribution on the sole of the foot and full-body images. A model to identify the participants belonging to High autistic trait group and Low autistic trait group was developed using a support vector machine (SVM) algorithm with 16 explanatory variables. Further, classification models were built for the conventional, proposed, and combined explanatory variable categories. The probabilities of High autistic trait group were calculated using the SVM model. Results For proposed and combined variables, the accuracy, sensitivity, and specificity scores were 1.000. The variables shoulder, hip, and trunk are important since they explain the balance status of children with high autistic trait. Further, the total Social Responsiveness Scale score positively correlated with the probability of High autistic trait group in each category of explanatory variables. Discussion Results indicate the effectiveness of evaluating movement in OLST by using movies and machine learning for predicting high autistic trait. In addition, they emphasize the significance of specifically focusing on shoulder and waist movements, which facilitate the efficient predicting high autistic trait. Finally, studies incorporating a broader range of balance cues are necessary to comprehensively determine the effectiveness of utilizing balance ability in predicting high autistic trait.
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Affiliation(s)
- Yoshimasa Ohmoto
- Department of Behavior Informatics, Faculty of Informatics, Shizuoka University, Shizuoka, Japan
| | - Kazunori Terada
- Department of Electrical, Electronic, and Computer Engineering, Faculty of Engineering, Gifu University, Gifu, Japan
| | - Hitomi Shimizu
- Department of Neuropsychiatry, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
| | - Hiroko Kawahara
- Department of Neuropsychiatry, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
| | - Ryoichiro Iwanaga
- Unit of Medical Science, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
| | - Hirokazu Kumazaki
- Department of Electrical, Electronic, and Computer Engineering, Faculty of Engineering, Gifu University, Gifu, Japan
- Unit of Medical Science, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
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Müller A, Bába ÉB, Židek P, Lengyel A, Lakó JH, Laoues-Czimbalmos N, Molnár A, Boda E. The Experiences of Motor Skill Development in Children with Autism Spectrum Disorder (ASD) Reflected through Parental Responses. CHILDREN (BASEL, SWITZERLAND) 2024; 11:1238. [PMID: 39457203 PMCID: PMC11506193 DOI: 10.3390/children11101238] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/13/2024] [Revised: 10/04/2024] [Accepted: 10/10/2024] [Indexed: 10/28/2024]
Abstract
Background/Objectives: Understanding movement development in children with autism spectrum disorder (ASD) is critical for creating effective intervention strategies. This study aims to explore parental perspectives on the movement development of children with ASD, focusing on identifying common challenges and successful strategies. The objective is to analyze the experiences of parents to highlight the most effective approaches to support motor, communication, and social skills development in these children. Methods: Using a qualitative approach, we conducted in-depth interviews with parents of children with ASD. The data were analyzed using open and selective coding to identify key themes related to movement development challenges and strategies. The analysis included cross-referencing with the existing literature to support parental insights. Results: This study identified several key themes, including communication barriers, social interaction difficulties, and the importance of personalized movement programs. Parents reported significant challenges in understanding and addressing their children's movement needs, particularly in group settings. However, activities such as water programs, music and dance, and animal-assisted therapies were found to be highly engaging. Motivation was a critical factor, with rewards and active parental involvement enhancing participation. Conclusions: This study highlights the crucial role of a supportive environment, including professional guidance and family support, in the success of movement development programs.
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Affiliation(s)
- Anetta Müller
- Department of Pedagogy, Faculty of Education, Selye János University, 3322 Komarno, Slovakia
- Institute of Sport Economics and Management, Faculty of Economics and Business, University of Debrecen, 4032 Debrecen, Hungary; (É.B.B.); (A.M.)
| | - Éva Bácsné Bába
- Institute of Sport Economics and Management, Faculty of Economics and Business, University of Debrecen, 4032 Debrecen, Hungary; (É.B.B.); (A.M.)
| | - Peter Židek
- Primary and Pre-School Education, Faculty of Education, Selye János University, 3322 Komarno, Slovakia;
| | - Attila Lengyel
- Coordination and Research Centre for Social Sciences, Faculty of Economics and Business, University of Debrecen, 4032 Debrecen, Hungary;
| | - Judit Herpainé Lakó
- Institute of Sport Science, Eszterházy Károly Catholic University, 3300 Eger, Hungary; (J.H.L.); (E.B.)
| | - Nóra Laoues-Czimbalmos
- Faculty of Child Education and Special Education, Department of Art and Health Education, University of Debrecen, 4032 Debrecen, Hungary;
| | - Anikó Molnár
- Institute of Sport Economics and Management, Faculty of Economics and Business, University of Debrecen, 4032 Debrecen, Hungary; (É.B.B.); (A.M.)
| | - Eszter Boda
- Institute of Sport Science, Eszterházy Károly Catholic University, 3300 Eger, Hungary; (J.H.L.); (E.B.)
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Di Giminiani R, La Greca S, Marinelli S, Attanasio M, Masedu F, Mazza M, Valenti M. Locomotion and Postural Control in Young Adults with Autism Spectrum Disorders: A Novel Kinesiological Assessment. J Funct Morphol Kinesiol 2024; 9:185. [PMID: 39449479 PMCID: PMC11503382 DOI: 10.3390/jfmk9040185] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/29/2024] [Revised: 09/30/2024] [Accepted: 10/01/2024] [Indexed: 10/26/2024] Open
Abstract
Background/Objectives: The purposes of the present study were to assess gait by using a novel approach that plots two adjacent joint angles and the postural control in individuals with autism (ASD) and individuals with typical neurodevelopmental (TD). Methods: The surface electromyography (sEMG) activity was measured synchronously with the other variables. Twenty young adult men, 10 with TD and 10 with a diagnosis of ASD, took part in this study. Results: There was a significant difference between ASD and TD groups in the area described by the knee-ankle diagram (p < 0.05). The sEMG activity recorded from the lateral gastrocnemius (LG) during the contact phase of gait was significantly lower in the ASD group compared with the TD group (p < 0.05). The sEMG activity recorded in the different postural conditions showed differences in LG and tibialis anterior (TA) between the ASD and TD groups (p < 0.05). Conclusions: The knee-ankle diagram provided a sensitive and specific movement descriptor to differentiate individuals with ASD from individuals with TD. The reduced LG activation is responsible for the reduced area in the knee-ankle diagram and 'toe-walking' in individuals with ASD and represents the common denominator of an altered ankle strategy during locomotion and postural control.
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Affiliation(s)
- Riccardo Di Giminiani
- Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, 67100 L’Aquila, Italy; (S.L.G.); (S.M.); (M.A.); (F.M.); (M.M.); (M.V.)
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Subri S, Palumbo L, Gowen E. Symmetry Detection in Autistic Adults Benefits from Local Processing in a Contour Integration Task. J Autism Dev Disord 2024; 54:3684-3696. [PMID: 37642870 DOI: 10.1007/s10803-023-06093-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/31/2023] [Indexed: 08/31/2023]
Abstract
Symmetry studies in autism are inconclusive possibly due to different types of stimuli used which depend on either local or global cues. Therefore, this study compared symmetry detection between 20 autistic and 18 non-autistic adults matched on age, IQ, gender and handedness, using contour integration tasks containing open and closed contours that rely more on local or global processing respectively. Results showed that the autistic group performed equally well with both stimuli and outperformed the non-autistic group only for the open contours, possibly due to a different strategy used in detecting symmetry. However, there were no group differences for the closed contour. Results explain discrepant findings in previous symmetry studies suggesting that symmetry tasks that favour a local strategy may be advantageous for autistic individuals. Implications of the findings towards understanding visual sensory issues in this group are discussed.
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Affiliation(s)
- Sabrina Subri
- Center of Optometry, Faculty of Health Sciences, Universiti Teknologi MARA, Cawangan Selangor, 42300, Puncak Alam, Selangor, Malaysia.
| | - Letizia Palumbo
- Department of Psychology, Liverpool Hope University, Liverpool, UK
| | - Emma Gowen
- Division of Psychology, Communication and Human Neuroscience, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PL, UK
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Bermperidis T, Rai R, Torres EB. Digital screener of socio-motor agency balancing motor autonomy and motor control. Front Hum Neurosci 2024; 18:1442799. [PMID: 39411516 PMCID: PMC11473353 DOI: 10.3389/fnhum.2024.1442799] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2024] [Accepted: 09/05/2024] [Indexed: 10/19/2024] Open
Abstract
Dyadic social interactions evoke complex dynamics between two agents that, while exchanging unequal levels of body autonomy and motor control, may find a fine balance to synergize, take turns, and gradually build social rapport. To study the evolution of such complex interactions, we currently rely exclusively on subjective pencil and paper means. Here, we complement this approach with objective biometrics of socio-motor behaviors conducive to socio-motor agency. Using a common clinical test as the backdrop of our study to probe social interactions between a child and a clinician, we demonstrate new ways to streamline the detection of social readiness potential in both typically developing and autistic children by uncovering a handful of tasks that enable quantification of levels of motor autonomy and levels of motor control. Using these biometrics of autonomy and control, we further highlight differences between males and females and uncover a new data type amenable to generalizing our results to any social setting. The new methods convert continuous dyadic bodily biorhythmic activity into spike trains and demonstrate that in the context of dyadic behavioral analyses, they are well characterized by a continuous Gamma process that can classify individual levels of our thus defined socio-motor agency during a dyadic exchange. Finally, we apply signal detection processing tools in a machine learning approach to show the validity of the streamlined version of the digitized ADOS test. We offer a new framework that combines stochastic analyses, non-linear dynamics, and information theory to streamline and facilitate scaling the screening and tracking of social interactions with applications to autism.
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Affiliation(s)
- Theodoros Bermperidis
- Sensory Motor Integration Lab, Psychology Department, Rutgers University, Piscataway, NJ, United States
| | - Richa Rai
- Sensory Motor Integration Lab, Psychology Department, Rutgers University, Piscataway, NJ, United States
| | - Elizabeth B. Torres
- Sensory Motor Integration Lab, Psychology Department, Rutgers University, Piscataway, NJ, United States
- Rutgers University Center for Cognitive Science, Piscataway, NJ, United States
- Computer Science Department, Rutgers University Center for Biomedicine Imaging and Modelling, Piscataway, NJ, United States
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