9 recherche sur le mot-clé 'Motor impairment'

MED13L-related disorder characterized by severe motor speech impairment / Marissa W. MITCHEL in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : MED13L-related disorder characterized by severe motor speech impairment Type de document : texte imprimé Auteurs : Marissa W. MITCHEL, Auteur ; Stefanie TURNER, Auteur ; Lauren K. WALSH, Auteur ; Rebecca I. TORENE, Auteur ; Scott M. MYERS, Auteur ; Cora M. TAYLOR, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Male  Female  Adolescent  Cross-Sectional Studies  Child, Preschool  Young Adult  Mediator Complex/genetics  Intellectual Disability/genetics/physiopathology  Speech Disorders/genetics/physiopathology  Dysarthria/physiopathology/genetics  Med13l  Apraxia of speech  Dysarthria  Motor impairment  Speech disorders  consent for study participation was obtained from all participants or their legal  representatives. Ethics approval for this study was obtained from the Geisinger  Institutional Review Board (#00008345) under protocol #2013–0446. This research  was conducted in accordance with the Declaration of Helsinki. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, language, motor, cognitive, and adaptive phenotypes of individuals with MED13L-related disorder. METHODS: In this cross-sectional study, we administered standardized articulation, language, motor, and cognitive testing to 17 children and adolescents (mean age 9y 9m; SD 4y 5m; range 4y 2m to 19y 7m). In-person testing was supplemented with broad developmental, medical, and behavioral information collected virtually from a cohort of 67 individuals. RESULTS: All individuals who completed in-person articulation testing met diagnostic criteria for speech apraxia, dysarthria, or both. Language impairment was present in all of the in-person cohort and reported for almost all (97%) of the virtual cohort. Those who were able to complete motor testing demonstrated significant deficits in visual motor integration (mean 57.08, SD 9.26). Full scale IQs fell in the borderline to intellectual disability range, consistent with reported cognitive impairment in 97% of the virtual cohort. Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). CONCLUSIONS: MED13L-related disorder is characterized by a high rate of motor speech disorders that occur in the context of globally impaired motor, language, and cognitive skills. Children would benefit from early referrals to speech therapy to assess their speech, language, and support needs. En ligne : https://dx.doi.org/10.1186/s11689-025-09645-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] MED13L-related disorder characterized by severe motor speech impairment [texte imprimé] / Marissa W. MITCHEL, Auteur ; Stefanie TURNER, Auteur ; Lauren K. WALSH, Auteur ; Rebecca I. TORENE, Auteur ; Scott M. MYERS, Auteur ; Cora M. TAYLOR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Male  Female  Adolescent  Cross-Sectional Studies  Child, Preschool  Young Adult  Mediator Complex/genetics  Intellectual Disability/genetics/physiopathology  Speech Disorders/genetics/physiopathology  Dysarthria/physiopathology/genetics  Med13l  Apraxia of speech  Dysarthria  Motor impairment  Speech disorders  consent for study participation was obtained from all participants or their legal  representatives. Ethics approval for this study was obtained from the Geisinger  Institutional Review Board (#00008345) under protocol #2013–0446. This research  was conducted in accordance with the Declaration of Helsinki. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, language, motor, cognitive, and adaptive phenotypes of individuals with MED13L-related disorder. METHODS: In this cross-sectional study, we administered standardized articulation, language, motor, and cognitive testing to 17 children and adolescents (mean age 9y 9m; SD 4y 5m; range 4y 2m to 19y 7m). In-person testing was supplemented with broad developmental, medical, and behavioral information collected virtually from a cohort of 67 individuals. RESULTS: All individuals who completed in-person articulation testing met diagnostic criteria for speech apraxia, dysarthria, or both. Language impairment was present in all of the in-person cohort and reported for almost all (97%) of the virtual cohort. Those who were able to complete motor testing demonstrated significant deficits in visual motor integration (mean 57.08, SD 9.26). Full scale IQs fell in the borderline to intellectual disability range, consistent with reported cognitive impairment in 97% of the virtual cohort. Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). CONCLUSIONS: MED13L-related disorder is characterized by a high rate of motor speech disorders that occur in the context of globally impaired motor, language, and cognitive skills. Children would benefit from early referrals to speech therapy to assess their speech, language, and support needs. En ligne : https://dx.doi.org/10.1186/s11689-025-09645-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

The association between motor coordination impairment and restricted/repetitive behaviors in autistic children: The partial mediating effect of executive function / Chengkai JIN in Research in Autism Spectrum Disorders, 99 (November)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 99 (November) . - 102053 Titre : The association between motor coordination impairment and restricted/repetitive behaviors in autistic children: The partial mediating effect of executive function Type de document : texte imprimé Auteurs : Chengkai JIN, Auteur ; Tingfeng GU, Auteur ; Bijun SHI, Auteur ; Xin WANG, Auteur ; Jin JING, Auteur ; Muqing CAO, Auteur Article en page(s) : 102053 Langues : Anglais (eng) Mots-clés : Motor coordination  Motor impairment  Restricted/repetitive behaviors  Executive function  Autism Index. décimale : PER Périodiques Résumé : Background It has been strongly argued that impaired motor function contributes to the restricted/repetitive behaviors (RRBs) of autistic children, but the mechanism exploration of these claims has been limited by the absence of potential confounders such as executive function. Method We investigated the role that executive function (EF) plays in the relationship between motor coordination, EF, and RRBs in a school-aged autism population (n = 188, age = 7.42 Â+ 1.46 years, 86.7% males) via a structural equation model in a statistically robust way. The Developmental Coordination Disorder Questionnaire, Behavior Rating Inventory of Executive Function, and Restrictive Behavior Scale-Revised were collected to measure motor coordination, EF, and RRBs, respectively. Results Among the participants, 33.5% (n = 63) were classified as intellectual disability, 46.8% (n = 88) had EF dysfunction and 35.1% (n = 66) had motor coordination impairment. We found a direct effect of motor coordination impairment on RRBs among children with ASD and without intellectual disability (ÃŽ2= -0.334, p<0.001), as well as an indirect effect through EF, which was a partial mediator of the relationship (ÃŽ2= â’0.140, p = 0.001). Conclusions Motor coordination impairment should be included in the routine evaluation of autism surveillance and rehabilitation procedure, to address the ASD children who need additional support. It is important to add motor skills and motor coordination training in the daily intervention of autism, which could also improve EF and decrease RRBs in these children. En ligne : https://doi.org/10.1016/j.rasd.2022.102053 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 [article] The association between motor coordination impairment and restricted/repetitive behaviors in autistic children: The partial mediating effect of executive function [texte imprimé] / Chengkai JIN, Auteur ; Tingfeng GU, Auteur ; Bijun SHI, Auteur ; Xin WANG, Auteur ; Jin JING, Auteur ; Muqing CAO, Auteur . - 102053. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 99 (November) . - 102053 Mots-clés : Motor coordination  Motor impairment  Restricted/repetitive behaviors  Executive function  Autism Index. décimale : PER Périodiques Résumé : Background It has been strongly argued that impaired motor function contributes to the restricted/repetitive behaviors (RRBs) of autistic children, but the mechanism exploration of these claims has been limited by the absence of potential confounders such as executive function. Method We investigated the role that executive function (EF) plays in the relationship between motor coordination, EF, and RRBs in a school-aged autism population (n = 188, age = 7.42 Â+ 1.46 years, 86.7% males) via a structural equation model in a statistically robust way. The Developmental Coordination Disorder Questionnaire, Behavior Rating Inventory of Executive Function, and Restrictive Behavior Scale-Revised were collected to measure motor coordination, EF, and RRBs, respectively. Results Among the participants, 33.5% (n = 63) were classified as intellectual disability, 46.8% (n = 88) had EF dysfunction and 35.1% (n = 66) had motor coordination impairment. We found a direct effect of motor coordination impairment on RRBs among children with ASD and without intellectual disability (ÃŽ2= -0.334, p<0.001), as well as an indirect effect through EF, which was a partial mediator of the relationship (ÃŽ2= â’0.140, p = 0.001). Conclusions Motor coordination impairment should be included in the routine evaluation of autism surveillance and rehabilitation procedure, to address the ASD children who need additional support. It is important to add motor skills and motor coordination training in the daily intervention of autism, which could also improve EF and decrease RRBs in these children. En ligne : https://doi.org/10.1016/j.rasd.2022.102053 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490

Evidence for Specificity of Motor Impairments in Catching and Balance in Children with Autism / Katarina AMENT in Journal of Autism and Developmental Disorders, 45-3 (March 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.742-751 Titre : Evidence for Specificity of Motor Impairments in Catching and Balance in Children with Autism Type de document : texte imprimé Auteurs : Katarina AMENT, Auteur ; Amanda MEJIA, Auteur ; Rebecca BUHLMAN, Auteur ; Shannon ERKLIN, Auteur ; Brian S. CAFFO, Auteur ; Stewart H. MOSTOFSKY, Auteur ; Ericka WODKA, Auteur Article en page(s) : p.742-751 Langues : Anglais (eng) Mots-clés : Autism  Attention-deficit/hyperactivity disorder  Motor impairment  Specificity Index. décimale : PER Périodiques Résumé : To evaluate evidence for motor impairment specificity in autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Children completed performance-based assessment of motor functioning (Movement Assessment Battery for Children: MABC-2). Logistic regression models were used to predict group membership. In the models comparing typically developing and developmental disability (DD), all three MABC subscale scores were significantly negatively associated with having a DD. In the models comparing ADHD and ASD, catching and static balance items were associated with ASD group membership, with a 1 point decrease in performance increasing odds of ASD by 36 and 39 %, respectively. Impairments in motor skills requiring the coupling of visual and temporal feedback to guide and adjust movement appear specifically deficient in ASD. En ligne : http://dx.doi.org/10.1007/s10803-014-2229-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Evidence for Specificity of Motor Impairments in Catching and Balance in Children with Autism [texte imprimé] / Katarina AMENT, Auteur ; Amanda MEJIA, Auteur ; Rebecca BUHLMAN, Auteur ; Shannon ERKLIN, Auteur ; Brian S. CAFFO, Auteur ; Stewart H. MOSTOFSKY, Auteur ; Ericka WODKA, Auteur . - p.742-751. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.742-751 Mots-clés : Autism  Attention-deficit/hyperactivity disorder  Motor impairment  Specificity Index. décimale : PER Périodiques Résumé : To evaluate evidence for motor impairment specificity in autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Children completed performance-based assessment of motor functioning (Movement Assessment Battery for Children: MABC-2). Logistic regression models were used to predict group membership. In the models comparing typically developing and developmental disability (DD), all three MABC subscale scores were significantly negatively associated with having a DD. In the models comparing ADHD and ASD, catching and static balance items were associated with ASD group membership, with a 1 point decrease in performance increasing odds of ASD by 36 and 39 %, respectively. Impairments in motor skills requiring the coupling of visual and temporal feedback to guide and adjust movement appear specifically deficient in ASD. En ligne : http://dx.doi.org/10.1007/s10803-014-2229-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

How Do Physical Activity and Sedentary Behaviour Affect Motor Competence in Children with Autism Spectrum Disorder Compared to Typically Developing Children: A Pilot Study / Shiny THOMAS in Journal of Autism and Developmental Disorders, 52-8 (August 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3443-3455 Titre : How Do Physical Activity and Sedentary Behaviour Affect Motor Competence in Children with Autism Spectrum Disorder Compared to Typically Developing Children: A Pilot Study Type de document : texte imprimé Auteurs : Shiny THOMAS, Auteur ; L.M. BARNETT, Auteur ; Nicole PAPADOPOULOS, Auteur ; N. LANDER, Auteur ; Jane MCGILLIVRAY, Auteur ; Nicole J. RINEHART, Auteur Article en page(s) : p.3443-3455 Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Child, Preschool  Early Intervention, Educational  Exercise  Humans  Motor Skills  Pilot Projects  Sedentary Behavior  Accelerometry  Motor Competence  Motor Impairment  Physical Activity  Sedentary Behaviour Index. décimale : PER Périodiques Résumé : Older children with Autism Spectrum Disorder (ASD) have high levels of motor impairment, however we are unsure if similar patterns exist in young children. This study aimed to investigate motor competence in four-to-seven-year-old children with (n=17) and without (n=17) ASD. A series of ANOVAS indicated children with ASD performed significantly poorer on all measures of motor competence, except MABC-2 manual dexterity and ball skills subscales. Results indicate that moderate-to-vigorous physical activity (PA) and sedentary behaviour (SB) may influence motor competence, regardless of diagnosis. Establishing appropriate levels of engagement in moderate-to-vigorous PA and SB during early school years is important for the development of all children and may be an important early intervention avenue for motor impairment in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05205-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] How Do Physical Activity and Sedentary Behaviour Affect Motor Competence in Children with Autism Spectrum Disorder Compared to Typically Developing Children: A Pilot Study [texte imprimé] / Shiny THOMAS, Auteur ; L.M. BARNETT, Auteur ; Nicole PAPADOPOULOS, Auteur ; N. LANDER, Auteur ; Jane MCGILLIVRAY, Auteur ; Nicole J. RINEHART, Auteur . - p.3443-3455. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3443-3455 Mots-clés : Adolescent  Autism Spectrum Disorder  Child  Child, Preschool  Early Intervention, Educational  Exercise  Humans  Motor Skills  Pilot Projects  Sedentary Behavior  Accelerometry  Motor Competence  Motor Impairment  Physical Activity  Sedentary Behaviour Index. décimale : PER Périodiques Résumé : Older children with Autism Spectrum Disorder (ASD) have high levels of motor impairment, however we are unsure if similar patterns exist in young children. This study aimed to investigate motor competence in four-to-seven-year-old children with (n=17) and without (n=17) ASD. A series of ANOVAS indicated children with ASD performed significantly poorer on all measures of motor competence, except MABC-2 manual dexterity and ball skills subscales. Results indicate that moderate-to-vigorous physical activity (PA) and sedentary behaviour (SB) may influence motor competence, regardless of diagnosis. Establishing appropriate levels of engagement in moderate-to-vigorous PA and SB during early school years is important for the development of all children and may be an important early intervention avenue for motor impairment in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05205-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

Validating motor delays across the developmental coordination disorder-questionnaire and the Vineland adaptive behavior scales (VABS) in children with autism spectrum disorderASD: A SPARK dataset analysis / Anjana N. BHAT in Autism Research, 17-10 (October 2024)  

Public ISBD [article]  inAutism Research > 17-10 (October 2024) . - p.2079-2091 Titre : Validating motor delays across the developmental coordination disorder-questionnaire and the Vineland adaptive behavior scales (VABS) in children with autism spectrum disorderASD: A SPARK dataset analysis Type de document : texte imprimé Auteurs : Anjana N. BHAT, Auteur Article en page(s) : p.2079-2091 Langues : Anglais (eng) Mots-clés : autism  DCD-Q  motor delay  motor impairment  VABS  Vineland Index. décimale : PER Périodiques Résumé : Abstract Motor delays in children with autism spectrum disorder (ASD) are being increasingly recognized using a brief screening tool, called the Developmental Coordination Disorder-Questionnaire (DCD-Q). Further validation of these motor delays using a more robust normed, developmental measure is clearly warranted. In this analysis, a nationally representative sample from the SPARK study was used wherein parents completed the DCD-Q and a more widely used developmental/adaptive functioning measure, called the Vineland Adaptive Behavior Scales (VABS); which comprises of various developmental domains including the motor domain (N 2,644 completed the DCD-Q and VABS). Eighty two percent children with ASD had a motor delay based on their DCD-Q scores whereas 77% children with ASD had a motor delay based on their VABS motor domain scores. Approximately 70% children with ASD had concurrent motor delay on the DCD-Q and the VABS (i.e., positive predictive value of DCD-Q). Furthermore, there was 81.2% accuracy in reporting a risk/no risk of motor delay across both measures. Overall, these statistics align with the recent reports on proportions of children with ASD having motor delays. Parents of ~70% children with ASD are reporting motor delays that are corroborated across two different motor measures. This not only validates the motor delays reported based on the DCD-Q but also indicates the need for concurrent motor screening using both DCD-Q and VABS for better detection of motor delays in children with ASD. Only 10% 32% of the current SPARK sample received any physical or recreational therapies. This mismatch between presence of motor delays and the lack of access to motor services highlights the need for more motor intervention referrals for children with ASD. En ligne : https://doi.org/10.1002/aur.3189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536 [article] Validating motor delays across the developmental coordination disorder-questionnaire and the Vineland adaptive behavior scales (VABS) in children with autism spectrum disorderASD: A SPARK dataset analysis [texte imprimé] / Anjana N. BHAT, Auteur . - p.2079-2091. Langues : Anglais (eng) in Autism Research > 17-10 (October 2024) . - p.2079-2091 Mots-clés : autism  DCD-Q  motor delay  motor impairment  VABS  Vineland Index. décimale : PER Périodiques Résumé : Abstract Motor delays in children with autism spectrum disorder (ASD) are being increasingly recognized using a brief screening tool, called the Developmental Coordination Disorder-Questionnaire (DCD-Q). Further validation of these motor delays using a more robust normed, developmental measure is clearly warranted. In this analysis, a nationally representative sample from the SPARK study was used wherein parents completed the DCD-Q and a more widely used developmental/adaptive functioning measure, called the Vineland Adaptive Behavior Scales (VABS); which comprises of various developmental domains including the motor domain (N 2,644 completed the DCD-Q and VABS). Eighty two percent children with ASD had a motor delay based on their DCD-Q scores whereas 77% children with ASD had a motor delay based on their VABS motor domain scores. Approximately 70% children with ASD had concurrent motor delay on the DCD-Q and the VABS (i.e., positive predictive value of DCD-Q). Furthermore, there was 81.2% accuracy in reporting a risk/no risk of motor delay across both measures. Overall, these statistics align with the recent reports on proportions of children with ASD having motor delays. Parents of ~70% children with ASD are reporting motor delays that are corroborated across two different motor measures. This not only validates the motor delays reported based on the DCD-Q but also indicates the need for concurrent motor screening using both DCD-Q and VABS for better detection of motor delays in children with ASD. Only 10% 32% of the current SPARK sample received any physical or recreational therapies. This mismatch between presence of motor delays and the lack of access to motor services highlights the need for more motor intervention referrals for children with ASD. En ligne : https://doi.org/10.1002/aur.3189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=536

Do children with ASD have difficulty handwriting under time pressure? / N. GRACE in Research in Autism Spectrum Disorders, 37 (May 2017)  

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Exploratory study of dorsal visual stream dysfunction in autism; A case series / Isabel HAY in Research in Autism Spectrum Disorders, 69 (January 2020)  

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Standing Postural Control in Individuals with Autism Spectrum Disorder: Systematic Review and Meta-analysis / Yi Huey LIM in Journal of Autism and Developmental Disorders, 47-7 (July 2017)  

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The relationship among early functional milestones and core deficits in Autism Spectrum Disorder / Leah R. KETCHESON in Research in Autism Spectrum Disorders, 78 (October 2020)  

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