title: European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.
abstract: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines.
  
  
  
  A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries.
  
  
  
  Survey respondents were 861 children and 201 adults. Data describe a European DMD population with mean age of 13.0 years (range 0.8-46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p < 0.0001). The majority of patients reported receiving care in line with guidelines, although we identified significant differences between countries and important shortcomings in prevention and treatment. Summarised, 35% of patients aged≥ nine years received no corticosteroid medication, 24% of all patients received no regular physiotherapy, echocardiograms were not performed regularly in 22% of patients, pulmonary function was not regularly assessed in 71% of non-ambulatory patients. Patients with regular follow-up by neuromuscular specialists were more likely to receive care according to guidelines, were better satisfied, and experienced shorter unplanned hospitalization periods.
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Vry
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Gramsch
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.
authors.forename: Sunil
authors.initials: S
authors.lastname: Rodger
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.
authors.forename: Rachel
authors.initials: R
authors.lastname: Thompson
authors.affiliation: National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.
authors.forename: Birgit F
authors.initials: BF
authors.lastname: Steffensen
authors.affiliation: National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.
authors.forename: Jes
authors.initials: J
authors.lastname: Rahbek
authors.affiliation: Institute for Medical Biometry and Statistics, Faculty of Medicine and Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: Sam
authors.initials: S
authors.lastname: Doerken
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: Adrian
authors.initials: A
authors.lastname: Tassoni
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: María de Los Angeles
authors.initials: ML
authors.lastname: Beytía
authors.affiliation: Medical University of Sofia, Department of Neurology, University Hospital Sofiamed and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.affiliation: Medical University of Sofia, Department of Neurology, University Hospital Alexandrovska and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.
authors.forename: Teodora
authors.initials: T
authors.lastname: Chamova
authors.affiliation: Medical University of Sofia, Department of Neurology, University Hospital Alexandrovska and Bulgarian Neuromuscular Disorders Society, Sofia, Bulgaria.
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.affiliation: Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Kostera-Pruszczyk
authors.affiliation: Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Kaminska
authors.affiliation: Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Lusakowska
authors.affiliation: Department of Paediatric Neurology, University Hospital in Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Mrazova
authors.affiliation: Institute of Biostatistics and Analyses, Masaryk University Brno, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Pavlovska
authors.affiliation: Institute of Biostatistics and Analyses, Masaryk University Brno, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Strenkova
authors.affiliation: Department of Paediatric Neurology, University Hospital in Brno and Faculty of Medicine, Masaryk University Brno, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Vondráček
authors.affiliation: Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary.
authors.forename: Marta
authors.initials: M
authors.lastname: Garami
authors.affiliation: Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health, Budapest, Hungary.
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
authors.affiliation: Department of Pediatrics, Semmelweis University, Budapest, Hungary.
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Herczegfalvi
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.
authors.forename: Katherine
authors.initials: K
authors.lastname: Bushby
authors.affiliation: The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.affiliation: Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.
authors.forename: Janbernd
authors.initials: J
authors.lastname: Kirschner
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use*; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004452:Echocardiography / Q000706:statistics & numerical data; D005060:Europe; D019983:Guideline Adherence; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000503:physiopathology / Q000628:therapy*; D026741:Physical Therapy Modalities / Q000706:statistics & numerical data*; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D012042:Registries; D012129:Respiratory Function Tests / Q000706:statistics & numerical data; D059039:Standard of Care; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D000305:Adrenal Cortex Hormones
keywords: Duchenne muscular dystrophy; corticosteroid treatment; functional status; standards of care