11 recherche sur le mot-clé 'Gait'

Gait as a quantitative translational outcome measure in Angelman syndrome / Stela P. PETKOVA in Autism Research, 15-5 (May 2022)  

Public ISBD [article]  inAutism Research > 15-5 (May 2022) . - p.821-833 Titre : Gait as a quantitative translational outcome measure in Angelman syndrome Type de document : texte imprimé Auteurs : Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur Article en page(s) : p.821-833 Langues : Anglais (eng) Mots-clés : Angelman Syndrome/genetics  Animals  Autism Spectrum Disorder  Disease Models, Animal  Gait/physiology  Humans  Mice  Movement Disorders  Muscle Hypotonia  Outcome Assessment, Health Care  Angelman syndrome  animal models  autism  behavior  gait  genetics  longitudinal  motor  mouse models  neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Gait as a quantitative translational outcome measure in Angelman syndrome [texte imprimé] / Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Elizabeth L. BERG, Auteur ; Timothy A. FENTON, Auteur ; Jessica DUIS, Auteur ; Jill L. SILVERMAN, Auteur . - p.821-833. Langues : Anglais (eng) in Autism Research > 15-5 (May 2022) . - p.821-833 Mots-clés : Angelman Syndrome/genetics  Animals  Autism Spectrum Disorder  Disease Models, Animal  Gait/physiology  Humans  Mice  Movement Disorders  Muscle Hypotonia  Outcome Assessment, Health Care  Angelman syndrome  animal models  autism  behavior  gait  genetics  longitudinal  motor  mouse models  neurodevelopment Index. décimale : PER Périodiques Résumé : Angelman syndrome (AS) is a genetic neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, hypotonia, and motor coordination deficits. Motor abilities are an important outcome measure in AS as they comprise a broad repertoire of metrics including ataxia, hypotonia, delayed ambulation, crouched gait, and poor posture, and motor dysfunction affects nearly every individual with AS. Guided by collaborative work with AS clinicians studying gait, the goal of this study was to perform an in-depth gait analysis using the automated treadmill assay, DigiGait. Our hypothesis is that gait presents a strong opportunity for a reliable, quantitative, and translational metric that can serve to evaluate novel pharmacological, dietary, and genetic therapies. In this study, we used an automated gait analysis system, in addition to standard motor behavioral assays, to evaluate components of motor, exploration, coordination, balance, and gait impairments across the lifespan in an AS mouse model. Our study demonstrated marked global motoric deficits in AS mice, corroborating previous reports. Uniquely, this is the first report of nuanced aberrations in quantitative spatial and temporal components of gait in AS mice compared to sex- and age-matched wildtype littermates followed longitudinally using metrics that are analogous in AS individuals. Our findings contribute evidence toward the use of nuanced motor outcomes (i.e., gait) as valuable and translationally powerful metrics for therapeutic development for AS, as well as other genetic neurodevelopmental syndromes. LAY SUMMARY: Movement disorders affect nearly every individual with Angelman Syndrome (AS). The most common motor problems include spasticity, ataxia of gait (observed in the majority of ambulatory individuals), tremor, and muscle weakness. This report focused on quantifying various spatial and temporal aspects of gait as a reliable, translatable outcome measure in a preclinical AS model longitudinally across development. By increasing the number of translational, reliable, functional outcome measures in our wheelhouse, we will create more opportunities for identifying and advancing successful medical interventions. En ligne : http://dx.doi.org/10.1002/aur.2697 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome / Timothy A. FENTON in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome Type de document : texte imprimé Auteurs : Timothy A. FENTON, Auteur ; Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Jill L. SILVERMAN, Auteur Langues : Anglais (eng) Mots-clés : Animals  Lovastatin/pharmacology/administration & dosage  Angelman Syndrome/drug therapy/physiopathology/genetics  Disease Models, Animal  Mice  Gait/drug effects  Male  Cognition/drug effects  Female  Behavior, Animal/drug effects  Mice, Inbred C57BL  Ubiquitin-Protein Ligases/genetics  Motor Activity/drug effects  Angelman syndrome  Behavior  Gait  Lovastatin  Neurodevelopmental disorder  UBE3A  reviewed and approved by the UC Davis IACUC on April 20, 2023. Active protocols  are reviewed annually. Title: Novel Testing of Therapeutics for Angelman  Syndrome. Principal Investigator: Jill L. Silverman Protocol #: 23384  Institution: University of California, Davis This institution is accredited by  the Association for Assessment and Accreditation of Laboratory Animal Care,  International (AAALAC). This institution has an Animal Welfare Assurance on file  with the Office of Laboratory Animal Welfare (OLAW). The Assurance Number is  D16-00272 (A3433-01). The IACUC is constituted in accordance with U.S. Public  Health Service (PHS) Animal Welfare Policy and includes a member of the public  and a non-scientist. Consent for publication: FAST, the MIND Institute and the  NIH/NICHD IDDRC consent for the data presented herein to be publishable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs). One NDD, associated with ASD and ID, is Angelman Syndrome (AS). AS is a rare genetic NDD for which there is currently no cure nor effective therapeutics. The genetic cause is known to be the loss of expression from the maternal allele of ubiquitin protein ligase E3A (UBE3A). The Ube3a maternal deletion mouse model of AS reliably demonstrates behavioral phenotypes of relevance to AS and therefore offers a suitable in vivo system in which to test potential therapeutics, with construct and face validity. Successes in reducing hyperexcitability and epileptogenesis have been reported in an AS model following acute treatment with lovastatin, an ERK inhibitor by reducing seizure threshold and percentage of mice exhibiting seizures. Since there has been literature reporting disruption of the ERK signaling pathway in AS, we chose to evaluate the effects of acute lovastatin administration in a tailored set of translationally relevant behavioral assays in a mouse model of AS. Unexpectedly, deleterious effects of sedation were observed in wildtype (WT), age matched littermate control mice and despite a baseline hypolocomotive phenotype in AS mice, even further reductions in exploratory activity, were observed post-acute lovastatin treatment. Limitations of this work include that chronic lower dose regimens, more akin to drug administration in humans were beyond the scope of this work, and may have produced a more favorable impact of lovastatin administration over single acute high doses. In addition, lovastatin's effects were not assessed in younger subjects, since our study focused exclusively on adult functional outcomes. Metrics of gait, as well as motor coordination and motor learning in rotarod, previously observed to be impaired in AS mice, were not improved by lovastatin treatment. Finally, cognition by novel object recognition task was worsened in WT controls and not improved in AS, following lovastatin administration. In conclusion, lovastatin did not indicate any major improvement to AS symptoms, and in fact, worsened behavioral outcomes in the WT control groups. Therefore, despite its attractive low toxicity, immediate availability, and low cost of the drug, further investigation for clinical study is unwarranted given the results presented herein. En ligne : https://dx.doi.org/10.1186/s11689-025-09616-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome [texte imprimé] / Timothy A. FENTON, Auteur ; Stela P. PETKOVA, Auteur ; Anna ADHIKARI, Auteur ; Jill L. SILVERMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Animals  Lovastatin/pharmacology/administration & dosage  Angelman Syndrome/drug therapy/physiopathology/genetics  Disease Models, Animal  Mice  Gait/drug effects  Male  Cognition/drug effects  Female  Behavior, Animal/drug effects  Mice, Inbred C57BL  Ubiquitin-Protein Ligases/genetics  Motor Activity/drug effects  Angelman syndrome  Behavior  Gait  Lovastatin  Neurodevelopmental disorder  UBE3A  reviewed and approved by the UC Davis IACUC on April 20, 2023. Active protocols  are reviewed annually. Title: Novel Testing of Therapeutics for Angelman  Syndrome. Principal Investigator: Jill L. Silverman Protocol #: 23384  Institution: University of California, Davis This institution is accredited by  the Association for Assessment and Accreditation of Laboratory Animal Care,  International (AAALAC). This institution has an Animal Welfare Assurance on file  with the Office of Laboratory Animal Welfare (OLAW). The Assurance Number is  D16-00272 (A3433-01). The IACUC is constituted in accordance with U.S. Public  Health Service (PHS) Animal Welfare Policy and includes a member of the public  and a non-scientist. Consent for publication: FAST, the MIND Institute and the  NIH/NICHD IDDRC consent for the data presented herein to be publishable.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs). One NDD, associated with ASD and ID, is Angelman Syndrome (AS). AS is a rare genetic NDD for which there is currently no cure nor effective therapeutics. The genetic cause is known to be the loss of expression from the maternal allele of ubiquitin protein ligase E3A (UBE3A). The Ube3a maternal deletion mouse model of AS reliably demonstrates behavioral phenotypes of relevance to AS and therefore offers a suitable in vivo system in which to test potential therapeutics, with construct and face validity. Successes in reducing hyperexcitability and epileptogenesis have been reported in an AS model following acute treatment with lovastatin, an ERK inhibitor by reducing seizure threshold and percentage of mice exhibiting seizures. Since there has been literature reporting disruption of the ERK signaling pathway in AS, we chose to evaluate the effects of acute lovastatin administration in a tailored set of translationally relevant behavioral assays in a mouse model of AS. Unexpectedly, deleterious effects of sedation were observed in wildtype (WT), age matched littermate control mice and despite a baseline hypolocomotive phenotype in AS mice, even further reductions in exploratory activity, were observed post-acute lovastatin treatment. Limitations of this work include that chronic lower dose regimens, more akin to drug administration in humans were beyond the scope of this work, and may have produced a more favorable impact of lovastatin administration over single acute high doses. In addition, lovastatin's effects were not assessed in younger subjects, since our study focused exclusively on adult functional outcomes. Metrics of gait, as well as motor coordination and motor learning in rotarod, previously observed to be impaired in AS mice, were not improved by lovastatin treatment. Finally, cognition by novel object recognition task was worsened in WT controls and not improved in AS, following lovastatin administration. In conclusion, lovastatin did not indicate any major improvement to AS symptoms, and in fact, worsened behavioral outcomes in the WT control groups. Therefore, despite its attractive low toxicity, immediate availability, and low cost of the drug, further investigation for clinical study is unwarranted given the results presented herein. En ligne : https://dx.doi.org/10.1186/s11689-025-09616-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Abnormal Gait Patterns in Autism Spectrum Disorder and Their Correlations with Social Impairments / Linlin GONG in Autism Research, 13-7 (July 2020)  

Public ISBD [article]  inAutism Research > 13-7 (July 2020) . - p.1215-1226 Titre : Abnormal Gait Patterns in Autism Spectrum Disorder and Their Correlations with Social Impairments Type de document : texte imprimé Auteurs : Linlin GONG, Auteur ; Yajie LIU, Auteur ; Li YI, Auteur ; Jing FANG, Auteur ; Yisheng YANG, Auteur ; Kunlin WEI, Auteur Article en page(s) : p.1215-1226 Langues : Anglais (eng) Mots-clés : autism  gait  motor coordination  motor deficits  social impairments Index. décimale : PER Périodiques Résumé : Ground walking in humans is typically stable, symmetrical, characterized by smooth heel-to-toe ground contact. Previous studies on children with autism spectrum disorder (ASD) identified various gait abnormalities. However, they produced inconsistent findings, particularly for the occurrence of toe walking and gait symmetry between feet, owing to their reliance on retrospective reports, visual analysis of videos, or kinematic analysis of the gait. The present study examined gait functions in children with ASD using plantar pressure that quantified foot-ground interaction with high spatial and temporal resolutions. Fifty-eight 4-6-year-old children with ASD (12 low-functioning and 46 high-functioning autism) and 28 age-matched typically developed children walked straight 6 m at their preferred speed for 10 repetitions. We found that both ASD groups walked with more flat-footed contact pattern, more left-right asymmetry, and larger step-to-step variability than their controls. Furthermore, these abnormal gait characteristics were related to social impairments measured by the Autism Spectrum Quotient and Social Responsive Scale, supporting a close association between impaired motor coordination and core symptoms of autism. Autism Res 2020, 13: 1215-1226. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined gait functions among children with autism by measuring their foot plantar pressure during simple straight walking. Children with ASD walked with a characteristic foot-ground contact pattern with inappropriate contact forces and large step-to-step variability when compared with their age-matched controls. These walking abnormalities were dependent on their social impairments but independent from their intelligence, indicating a close relationship between atypical motor coordination and core symptoms of autism. En ligne : http://dx.doi.org/10.1002/aur.2302 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429 [article] Abnormal Gait Patterns in Autism Spectrum Disorder and Their Correlations with Social Impairments [texte imprimé] / Linlin GONG, Auteur ; Yajie LIU, Auteur ; Li YI, Auteur ; Jing FANG, Auteur ; Yisheng YANG, Auteur ; Kunlin WEI, Auteur . - p.1215-1226. Langues : Anglais (eng) in Autism Research > 13-7 (July 2020) . - p.1215-1226 Mots-clés : autism  gait  motor coordination  motor deficits  social impairments Index. décimale : PER Périodiques Résumé : Ground walking in humans is typically stable, symmetrical, characterized by smooth heel-to-toe ground contact. Previous studies on children with autism spectrum disorder (ASD) identified various gait abnormalities. However, they produced inconsistent findings, particularly for the occurrence of toe walking and gait symmetry between feet, owing to their reliance on retrospective reports, visual analysis of videos, or kinematic analysis of the gait. The present study examined gait functions in children with ASD using plantar pressure that quantified foot-ground interaction with high spatial and temporal resolutions. Fifty-eight 4-6-year-old children with ASD (12 low-functioning and 46 high-functioning autism) and 28 age-matched typically developed children walked straight 6 m at their preferred speed for 10 repetitions. We found that both ASD groups walked with more flat-footed contact pattern, more left-right asymmetry, and larger step-to-step variability than their controls. Furthermore, these abnormal gait characteristics were related to social impairments measured by the Autism Spectrum Quotient and Social Responsive Scale, supporting a close association between impaired motor coordination and core symptoms of autism. Autism Res 2020, 13: 1215-1226. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined gait functions among children with autism by measuring their foot plantar pressure during simple straight walking. Children with ASD walked with a characteristic foot-ground contact pattern with inappropriate contact forces and large step-to-step variability when compared with their age-matched controls. These walking abnormalities were dependent on their social impairments but independent from their intelligence, indicating a close relationship between atypical motor coordination and core symptoms of autism. En ligne : http://dx.doi.org/10.1002/aur.2302 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429

Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model / Emmanuel MATAS in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) Titre : Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model Type de document : texte imprimé Auteurs : Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur Langues : Anglais (eng) Mots-clés : Cerebellum  Crus I  Crus II  Gait  Motor coordination  Purkinje cells  Sociability  mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/ΔC) and homozygote (Shank3 ΔC/ΔC)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ΔC/ΔC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ΔC/ΔC were less affected by the mutation than males. Shank3+/ΔC mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ΔC/ΔC mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/ΔC mice showed only mild to no deficiencies compared to Shank3 ΔC/ΔC. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model [texte imprimé] / Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur. Langues : Anglais (eng) in Molecular Autism > 12 (2021) Mots-clés : Cerebellum  Crus I  Crus II  Gait  Motor coordination  Purkinje cells  Sociability  mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/ΔC) and homozygote (Shank3 ΔC/ΔC)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ΔC/ΔC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ΔC/ΔC were less affected by the mutation than males. Shank3+/ΔC mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ΔC/ΔC mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/ΔC mice showed only mild to no deficiencies compared to Shank3 ΔC/ΔC. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Quantitative gait assessment in children with 16p11.2 syndrome / Sylvie GOLDMAN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 26 p. Titre : Quantitative gait assessment in children with 16p11.2 syndrome Type de document : texte imprimé Auteurs : Sylvie GOLDMAN, Auteur ; Aston K. MCCULLOUGH, Auteur ; Sally Dunaway YOUNG, Auteur ; Carly MUELLER, Auteur ; Adrianna STAHL, Auteur ; Audrey ZOELLER, Auteur ; Laurel Daniels ABBRUZZESE, Auteur ; Ashwini K. RAO, Auteur ; Jacqueline MONTES, Auteur Article en page(s) : 26 p. Langues : Anglais (eng) Mots-clés : 16p11.2  Autism spectrum disorder  Children  Gait  Motor function  Neurodevelopment disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in studying children with neurodevelopmental disorders, hinders quantitative motor assessments. Gait and balance are quantifiable measures that may help to refine the motor phenotype in 16p11.2. The characterization of motor profile is useful to study the trajectories of locomotion performance of children with genetic variants and may provide insights into neural pathway dysfunction based on genotype/phenotype model. METHODS: Thirty-six children (21 probands with 16p11.2 deletion and duplication mutation and 15 unaffected siblings), with a mean age of 8.5 years (range 3.2-15.4) and 55% male, were enrolled. Of the probands, 23% (n = 6) had a confirmed diagnosis of autism spectrum disorder (ASD) and were all male. Gait assessments included 6-min walk test (6MWT), 10-m walk/run test (10MWR), timed-up-and-go test (TUG), and spatio-temporal measurements of preferred- and fast-paced walking. The Pediatric Evaluation of Disability Inventory-Computer Adaptive Tests (PEDI-CAT), a caregiver-reported functional assessment, was administered. Measures of balance were calculated using percent time in double support and base of support. Analyses of the six children with ASD were described separately. RESULTS: Thirty-six participants completed the protocol. Compared with sibling controls, probands had significantly lower scores on the 6MWT (p = 0.04), 10MWR (p = 0.01), and TUG (p = 0.005). Group differences were also identified in base of support (p = 0.003). Probands had significantly lower PEDI-CAT scores in all domains including the mobility scale (p < 0.001). Using age-matched subsamples, the ASD and non-ASD genetic variant groups had larger base of support compared to the controls. In the fast-paced condition, all participants increased their velocity, and there was a corresponding decrease in percent time in double support compared to the preferred-pace condition in all participants. Only the ASD group presented with upper limb arm/hand stereotypies. CONCLUSIONS: Children with 16p11.2, with and without ASD, present with balance impairment during locomotion activities. Probands performed worse on functional assessments, and quantitative measures revealed differences in base of support. These results highlight the importance of using precise measures to differentiate motor dysfunction in children with neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-019-9286-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Quantitative gait assessment in children with 16p11.2 syndrome [texte imprimé] / Sylvie GOLDMAN, Auteur ; Aston K. MCCULLOUGH, Auteur ; Sally Dunaway YOUNG, Auteur ; Carly MUELLER, Auteur ; Adrianna STAHL, Auteur ; Audrey ZOELLER, Auteur ; Laurel Daniels ABBRUZZESE, Auteur ; Ashwini K. RAO, Auteur ; Jacqueline MONTES, Auteur . - 26 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 26 p. Mots-clés : 16p11.2  Autism spectrum disorder  Children  Gait  Motor function  Neurodevelopment disorder Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in studying children with neurodevelopmental disorders, hinders quantitative motor assessments. Gait and balance are quantifiable measures that may help to refine the motor phenotype in 16p11.2. The characterization of motor profile is useful to study the trajectories of locomotion performance of children with genetic variants and may provide insights into neural pathway dysfunction based on genotype/phenotype model. METHODS: Thirty-six children (21 probands with 16p11.2 deletion and duplication mutation and 15 unaffected siblings), with a mean age of 8.5 years (range 3.2-15.4) and 55% male, were enrolled. Of the probands, 23% (n = 6) had a confirmed diagnosis of autism spectrum disorder (ASD) and were all male. Gait assessments included 6-min walk test (6MWT), 10-m walk/run test (10MWR), timed-up-and-go test (TUG), and spatio-temporal measurements of preferred- and fast-paced walking. The Pediatric Evaluation of Disability Inventory-Computer Adaptive Tests (PEDI-CAT), a caregiver-reported functional assessment, was administered. Measures of balance were calculated using percent time in double support and base of support. Analyses of the six children with ASD were described separately. RESULTS: Thirty-six participants completed the protocol. Compared with sibling controls, probands had significantly lower scores on the 6MWT (p = 0.04), 10MWR (p = 0.01), and TUG (p = 0.005). Group differences were also identified in base of support (p = 0.003). Probands had significantly lower PEDI-CAT scores in all domains including the mobility scale (p < 0.001). Using age-matched subsamples, the ASD and non-ASD genetic variant groups had larger base of support compared to the controls. In the fast-paced condition, all participants increased their velocity, and there was a corresponding decrease in percent time in double support compared to the preferred-pace condition in all participants. Only the ASD group presented with upper limb arm/hand stereotypies. CONCLUSIONS: Children with 16p11.2, with and without ASD, present with balance impairment during locomotion activities. Probands performed worse on functional assessments, and quantitative measures revealed differences in base of support. These results highlight the importance of using precise measures to differentiate motor dysfunction in children with neurodevelopmental disorders. En ligne : https://dx.doi.org/10.1186/s11689-019-9286-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders / Rachel M. RAHN in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB / Katherine B. MCCULLOUGH in Journal of Neurodevelopmental Disorders, 16 (2024)  

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Differentiation of High-Functioning Autism and Asperger’s Disorder Based on Neuromotor Behaviour / Ashwini NAYATE in Journal of Autism and Developmental Disorders, 42-5 (May 2012)  

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Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome / Jean-René CAZALETS in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

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Modeling Autism Spectrum Disorders Motor Deficits in Mice / Pierre L. ROUBERTOUX

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