Rujuta B Wilson1, David Elashoff2, Arnaud Gouelle3,4, Beth A Smith5, Andrew M Wilson6, Abigail Dickinson1, Tabitha Safari1, Carly Hyde1, Shafali S Jeste1. 1. Semel Institute of Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. 2. Department of Medicine Statistics Core, David Geffen School of Medicine, Los Angeles, California, USA. 3. Gait and Balance Academy, Protokinetics, Havertown, Pennsylvania, USA. 4. Laboratory Performance, Sante, Metrologie, Societe (PSMS), UFR STAPS, Reims, France. 5. Division of Biokinesiology and Physical Therapy and Department of Pediatrics, University of Southern California, Los Angeles, California, USA. 6. Greater Los Angeles VA HealthCare System, Department of Neurology, University of California, Los Angeles, Los Angeles, California, USA.
Abstract
Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. Autism Res 2020, 13: 1102-1110.
Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. Autism Res 2020, 13: 1102-1110.
Authors: Somer L Bishop; Cristan Farmer; Vanessa Bal; Elise B Robinson; A Jeremy Willsey; Donna M Werling; Karoline Alexandra Havdahl; Stephan J Sanders; Audrey Thurm Journal: Am J Psychiatry Date: 2017-03-03 Impact factor: 18.112
Authors: Joan A O'Keefe; Erin E Robertson; Bichun Ouyang; Danielle Carns; Andrew McAsey; Yuanqing Liu; Maija Swanson; Bryan Bernard; Elizabeth Berry-Kravis; Deborah A Hall Journal: Gait Posture Date: 2018-09-12 Impact factor: 2.840