12-Month progression of motor and functional outcomes in congenital myotonic dystrophy
| العنوان: | 12-Month progression of motor and functional outcomes in congenital myotonic dystrophy |
|---|---|
| المؤلفون: | Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone |
| المصدر: | Paediatrics Publications Muscle Nerve |
| بيانات النشر: | Scholarship@Western, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery |
| الوصف: | INTRODUCTION/AIMS: We aim to describe 12-month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength and Lip Force at baseline and 12 month visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 years old, with CDM were enrolled. 6MWT, 10 Meter Run and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-month performance was an improvement in 6MWT in children 3–6 years old (p=0.008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 years, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 years. Participants with CTG repeat lengths 1000. DISCUSSION: 6MWT, 10 Meter Run and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 years old and |
| وصف الملف: | application/pdf |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test https://ir.lib.uwo.ca/paedpub/1436Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2ecefca0967ee8b41a6b80aa26df57b6 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |