Timothy Estilow1, Allan M Glanzman1, Joshua Burns2, Ann Harrington1, Kayla Cornett2, Manoj P Menezes2, Rosemary Shy3, Isabella Moroni4, Emanuela Pagliano4, Davide Pareyson4, Trupti Bhandari5, Francesco Muntoni5, Matilde Laurá6, Mary M Reilly6, Richard S Finkel7, Kate J Eichinger8, David N Herrmann8, Gregory Troutman9, Paula Bray2, Mark Halaki10, Michael E Shy10, Sabrina W Yum11. 1. Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 2. The University of Sydney & Children's Hospital at Westmead, Sydney, Australia. 3. Carver College of Medicine, Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA. 4. IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. 5. UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom. 6. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. 7. Neuromuscular Program, Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA. 8. Department of Neurology, University of Rochester, Rochester, New York, USA. 9. Department of Biostatistics and Clinical Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 10. Carver College of Medicine, Department of Neurology, University of Iowa, Iowa City, Iowa, USA. 11. Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Abstract
INTRODUCTION: Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot-Marie-Tooth disease (CMT) but has been minimally examined in pediatric CMT. METHODS: The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance function (Bruininks-Oseretsky Test of Motor Proficiency [BOT-2]) and sensorimotor and gait impairments were investigated. RESULTS: Daily trips/falls were reported by 42.3% of participants. Balance (BOT-2) varied by CMT subtype, was impaired in 42% of 4-year-olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT-2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age. DISCUSSION: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019.
INTRODUCTION: Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot-Marie-Tooth disease (CMT) but has been minimally examined in pediatric CMT. METHODS: The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance function (Bruininks-Oseretsky Test of Motor Proficiency [BOT-2]) and sensorimotor and gait impairments were investigated. RESULTS: Daily trips/falls were reported by 42.3% of participants. Balance (BOT-2) varied by CMT subtype, was impaired in 42% of 4-year-olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT-2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age. DISCUSSION: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019.
Authors: Jean Flickinger; Jiaxin Fan; Amanda Wellik; Rebecca Ganetzky; Amy Goldstein; Colleen C Muraresku; Allan M Glanzman; Elizabeth Ballance; Kristin Leonhardt; Elizabeth M McCormick; Brianna Soreth; Sara Nguyen; Jennifer Gornish; Ibrahim George-Sankoh; James Peterson; Laura E MacMullen; Shailee Vishnubhatt; Michael McBride; Richard Haas; Marni J Falk; Rui Xiao; Zarazuela Zolkipli-Cunningham Journal: JCSM Clin Rep Date: 2021-08-30