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Joshua Burns pediatric CMT

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https://www.readbyqxmd.com/read/27043305/phenotypic-variability-of-childhood-charcot-marie-tooth-disease
#1
Kayla M D Cornett, Manoj P Menezes, Paula Bray, Mark Halaki, Rosemary R Shy, Sabrina W Yum, Timothy Estilow, Isabella Moroni, Maria Foscan, Emanuela Pagliano, Davide Pareyson, Matilde Laurá, Trupti Bhandari, Francesco Muntoni, Mary M Reilly, Richard S Finkel, Janet Sowden, Katy J Eichinger, David N Herrmann, Michael E Shy, Joshua Burns
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. OBJECTIVE: To assess the variability of disease severity in a large cohort of children and adolescents with CMT. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study was conducted among 520 children and adolescents aged 3 to 20 years at 8 universities and hospitals involved in the Inherited Neuropathies Consortium between August 6, 2009, and July 31, 2014, in Australia, Italy, the United Kingdom, and the United States...
June 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/23781965/transitioning-outcome-measures-relationship-between-the-cmtpeds-and-cmtnsv2-in-children-adolescents-and-young-adults-with-charcot-marie-tooth-disease
#2
Joshua Burns, Manoj Menezes, Richard S Finkel, Tim Estilow, Isabella Moroni, Emanuela Pagliano, Matilde Laurá, Francesco Muntoni, David N Herrmann, Kate Eichinger, Rosemary Shy, Davide Pareyson, Mary M Reilly, Michael E Shy
Long-term studies of Charcot-Marie-Tooth (CMT) disease across the entire lifespan require stable endpoints that measure the same underlying construct (e.g., disability). The aim of this study was to assess the relationship between the CMT Pediatric Scale (CMTPedS) and the adult CMT Neuropathy Score (CMTNSv2) in 203 children, adolescents, and young adults with CMT. There was a moderate curvilinear correlation between the CMTPedS and the CMTNSv2 (Spearman's rho ρ = 0.716, p < 0.0001), although there appears to be a floor effect of the CMTNSv2 in patients with a milder CMT phenotype...
June 2013: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/23696628/measuring-ankle-instability-in-pediatric-charcot-marie-tooth-disease
#3
Melissa Mandarakas, Claire E Hiller, Kristy J Rose, Joshua Burns
Children with Charcot-Marie-Tooth disease frequently suffer ankle sprain and experience chronic ankle instability; however, no pediatric self-reported measures of chronic ankle instability exist. The aim was to modify and validate the most reliable measure of chronic ankle instability in adults: the Cumberland Ankle Instability Tool. The Cumberland Ankle Instability Tool-Youth was tested for reliability, construct validity, and sensitivity to discriminate between 104 children aged 8 to 16 years: 31 children with Charcot-Marie-Tooth disease, 31 unaffected children with a history of ankle sprains, and 42 controls...
November 2013: Journal of Child Neurology
https://www.readbyqxmd.com/read/22522479/validation-of-the-charcot-marie-tooth-disease-pediatric-scale-as-an-outcome-measure-of-disability
#4
Joshua Burns, Robert Ouvrier, Tim Estilow, Rosemary Shy, Matilde Laurá, Julie F Pallant, Monkol Lek, Francesco Muntoni, Mary M Reilly, Davide Pareyson, Gyula Acsadi, Michael E Shy, Richard S Finkel
OBJECTIVE: Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials are increasingly occurring. Patients usually develop symptoms during the first 2 decades of life, but there are no established outcome measures of disease severity or response to treatment. We identified a set of items that represent a range of impairment levels and conducted a series of validation studies to build a patient-centered multi-item rating scale of disability for children with CMT...
May 2012: Annals of Neurology
https://www.readbyqxmd.com/read/22131544/muscle-cramp-in-pediatric-charcot-marie-tooth-disease-type-1a-prevalence-and-predictors
#5
Fiona Blyton, Monique M Ryan, Robert A Ouvrier, Joshua Burns
OBJECTIVES: To identify correlates of calf cramp in children with Charcot-Marie-Tooth disease type 1A (CMT1A). METHODS: Throughout Australia, 81 children aged 2-16 years with CMT1A were recruited. Measures of strength, ankle range, foot posture, balance, agility, endurance, gait, and neurophysiology were collected. Post hoc logistic regression analyses were performed to identify independent predictors of calf cramp. RESULTS: Of the 81 children, 26 (32%) reported calf cramp, and 1 child each reported toe, quadriceps, or arm cramp...
December 13, 2011: Neurology
https://www.readbyqxmd.com/read/20544937/randomized-trial-of-botulinum-toxin-to-prevent-pes-cavus-progression-in-pediatric-charcot-marie-tooth-disease-type-1a
#6
RANDOMIZED CONTROLLED TRIAL
Joshua Burns, Adam Scheinberg, Monique M Ryan, Kristy J Rose, Robert A Ouvrier
Pes cavus in Charcot-Marie-Tooth disease type 1A (CMT1A) is thought to be due to muscle imbalance of the lower leg. Botulinum toxin type A (BoNT-A) can modify foot deformity in other conditions of muscle imbalance. We tested the safety and effectiveness of BoNT-A on pes cavus progression in pediatric CMT1A. A 24-month, randomized, single-blind trial of BoNT-A was undertaken in 10 affected children (20 legs), aged 3-14 years. The treated leg received intramuscular BoNT-A injections at 6-month intervals in the tibialis posterior and peroneus longus...
August 2010: Muscle & Nerve
https://www.readbyqxmd.com/read/19713553/quality-of-life-in-children-with-charcot-marie-tooth-disease
#7
Joshua Burns, Monique M Ryan, Robert A Ouvrier
The authors studied the health-related quality of life of children aged 5 to 18 years with Charcot-Marie-Tooth disease of varying types and severity and compared it with the general pediatric population. To capture and compare the quality-of-life data across a broad range of ages, the Child Health Questionnaire was completed by parents of 127 children with Charcot-Marie-Tooth disease. Affected children exhibited lower physical, psychological, and social well-being than the general pediatric population, with subsequent worsening of many domains with age...
March 2010: Journal of Child Neurology
https://www.readbyqxmd.com/read/17416318/establishment-of-the-australasian-paediatric-charcot-marie-tooth-disease-registry
#8
Joshua Burns, Robert A Ouvrier, Garth A Nicholson, Monique M Ryan
No abstract text is available yet for this article.
April 2007: Neuromuscular Disorders: NMD
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