Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies
| Autor: | Angela Kokkinis, M. McGuire, Robert J. Fee, Courtney Fiorini, Ranjani Logaraj, Irene C Chrismer, Leslie Nelson, Peter McGraw, Fatoumata Tounkara, Minal Jain, Allan Glanzman, E.J. Hartnett, Tina Duong, Kristy Rose, Anne Rutkowski, Mark Barton, Monal Punjabi, Katherine G. Meilleur, Payam Mohassel, M. Leach, M. Waite, G. Averion, Melody M. Linton, Eunice S. Kim, Gina Norato, Sandra Donkervoort, Jocelyn Winkert, Joseph A. Fontana, Carmel Nichols, Jahannaz Dastgir, Ruhi Vasavada, Kristen Zukosky, Carole Vuillerot, James C. Collins, Donovan J. Lott, Eunhee Kim, Katherine Keller, Alice B. Schindler, Marion Main, Jeffrey L. Elliott, A. Reghan Foley, Veronica J. Hinton, Diana Bharucha-Goebel, Linda S. Hynan, Carsten G. Bönnemann |
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| Rok vydání: | 2018 |
| Předmět: |
Male
Elbow Vital Capacity Neuromuscular Disorders Motor function Pediatrics Muscular Dystrophies Pulmonary function testing 0302 clinical medicine Child Development Outcome Assessment Health Care Longitudinal Studies Muscular Dystrophy Child Brain Diseases COL6-Related Dystrophies Outcome measures Respiratory Function Tests medicine.anatomical_structure LAMA2-Related Dystrophies Neurology Child Preschool Congenital muscular dystrophy Disease Progression Female Elbow extension Range of motion medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Neurosurgery Muscle Strength Dynamometer 03 medical and health sciences Young Adult Physical medicine and rehabilitation Enteral Nutrition 030225 pediatrics medicine Humans Muscle Strength Mobility Limitation Sclerosis Arthrometry Articular business.industry Infant medicine.disease respiratory tract diseases Muscle strength Linear Models Quality of Life Neurology (clinical) sense organs Nervous System Diseases business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric Neurology Briefs |
| ISSN: | 1526-632X |
| Popis: | ObjectiveTo identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).MethodsOver the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts.ResultsTotal MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed.ConclusionResults of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs. |
| Databáze: | OpenAIRE |
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