[en] Angelman Syndrome is a rare neurodevelopmental disorder characterized by developmental delay, lack of speech, seizures, intellectual disability, characteristic behavior, and movement disorders. Clinical gait analysis provides the opportunity for movement quantification to investigate an observed maladaptive change in gait pattern and offers an objective outcome of change. Pressure-sensor-based technology, inertial and activity monitoring, and instrumented gait analysis (IGA) were employed to define motor abnormalities in Angelman syndrome. Temporal-spatial gait parameters of persons with Angelman Syndrome (pwAS) show deficiencies in gait performance through walking speed, step length, step width, and walk ratio. pwAS walk with reduced step lengths, increased step width, and greater variability. Three-dimensional motion kinematics showed increased anterior pelvic tilt, hip flexion, and knee flexion. PwAS have a walk ratio more than two standard deviations below controls. Dynamic electromyography showed prolonged activation of knee extensors, which was associated with a decreased range of motion and the presence of hip flexion contractures. Use of multiple gait tracking modalities revealed that pwAS exhibit a change in gait pattern to a flexed knee gait pattern. Cross-sectional studies of individuals with AS show a regression toward this maladaptive gait pattern over development in pwAS ages 4-11. PwAS unexpectedly did not have spasticity associated with change in gait pattern. Multiple quantitative measures of motor patterning may offer early biomarkers of gait decline consistent with critical periods of intervention, insight into appropriate management strategies, objective primary outcomes, and early indicators of adverse events.
Disciplines :
Pediatrics
Author, co-author :
Duis, Jessica ; Center for Gait & Movement Analysis (CGMA), Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA ; Section of Genetics and Inherited Metabolic Disease, Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA ; Section of Pediatrics, Special Care Clinic, Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Skinner, Austin; Center for Gait & Movement Analysis (CGMA), Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Carson, Robert; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
Gouelle, Arnaud; Université de Reims Champagne-Ardenne, PSMS (Performance, Santé, Métrologie, Société), Reims, France ; Gait and Balance Academy, ProtoKinetics, Havertown, Pennsylvania, USA
Annoussamy, Melanie; Sysnav, Vernon, France
Silverman, Jill L; MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA
Apkon, Susan; Department of Physical Medicine & Rehabilitation, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; Department of Paediatrics, Oxford University, Oxford, UK
Carollo, James; Center for Gait & Movement Analysis (CGMA), Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA ; Department of Physical Medicine & Rehabilitation, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Language :
English
Title :
Quantitative measures of motor development in Angelman syndrome.
FAST - Foundation for Angelman Syndrome Therapeutics NICHD - National Institute of Child Health and Human Development
Funding text :
This study was generously supported by a grant awarded to Jessica Duis and Jill L. Silverman from the Foundation for Angelman Syndrome Therapeutics and NICHD (HD103526).Angelman Gait Group: Alex Tagawa, Fenna Phibbs, Damien Eggenspieler, Lucas Moore, Stela P. Petkova. This study was generously supported by a grant awarded to Jessica Duis and Jill L. Silverman from the Foundation for Angelman Syndrome Therapeutics and NICHD (HD103526). Jessica Duis and Laurent Servais have consulted for GeneTX Bio HD103526 therapeutics and Roche. Melanie Annoussamy is employed by Sysnav. Arnaud Gouelle was employed by ProtoKinetics.
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