Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-10-27

AUTHORS

Catherine L. Bladen, Rachel Thompson, Jacqueline M. Jackson, Connie Garland, Claire Wegel, Anna Ambrosini, Paolo Pisano, Maggie C. Walter, Olivia Schreiber, Anna Lusakowska, Maria Jedrzejowska, Anna Kostera-Pruszczyk, Ludo van der Pol, Renske I. Wadman, Ole Gredal, Ayse Karaduman, Haluk Topaloglu, Oznur Yilmaz, Vitaliy Matyushenko, Vedrana Milic Rasic, Ana Kosac, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Soledad Monges, Angelica Moresco, Lilien Chertkoff, Teodora Chamova, Velina Guergueltcheva, Niculina Butoianu, Dana Craiu, Lawrence Korngut, Craig Campbell, Jana Haberlova, Jana Strenkova, Moises Alejandro, Alatorre Jimenez, Genaro Gabriel Ortiz, Gracia Viviana Gonzalez Enriquez, Miriam Rodrigues, Richard Roxburgh, Hugh Dawkins, Leanne Youngs, Jaana Lahdetie, Natalija Angelkova, Pascal Saugier-Veber, Jean-Marie Cuisset, Clemens Bloetzer, Pierre-Yves Jeannet, Andrea Klein, Andres Nascimento, Eduardo Tizzano, David Salgado, Eugenio Mercuri, Thomas Sejersen, Jan Kirschner, Karen Rafferty, Volker Straub, Kate Bushby, Jan Verschuuren, Christophe Beroud, Hanns Lochmüller

ABSTRACT

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning. More... »

PAGES

152-163

Journal

TITLE

Journal of Neurology

ISSUE

1

VOLUME

261

Author Affiliations

  • MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK
  • Indiana University School of Medicine, 410 West 10th Street, HS4000, 46202-3002, Indianapolis, IN, USA
  • Associazione Italiana dei pazienti con malattie neuromuscolari/Fondazione Telethon-Piazza Cavour 1, 20121, Milan, Italy
  • Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany
  • Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-970, Warsaw, Poland
  • Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106, Warsaw, Poland
  • Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands
  • The Rehabilitation Centre for Neuromuscular Diseases, Kongsvang Alle 23, 8000, Århus C, Denmark
  • Department of Physiotherapy and Rehabilitation Hacettepe, University Faculty of Health Sciences, Altındağ, 06100, Ankara, Turkey
  • Foundation for Children with Spinal Muscular Atrophy, Gogolya Street 7, Kharkiv, Ukraine
  • Faculty of Medicine, University of Belgrade, Belgrade, Serbia
  • Clinic for Neurology and Psychiatry for Children and Youth, Dr Subotica 6A, 11000, Belgrade, Serbia
  • Molecular Genetic Department, NIEH, Gyáli Str 2-6, 1097, Budapest, Hungary
  • Pichincha 1881, Hospital Pediatría J. P. Garrahan, Buenos Aires, Argentina
  • Department of Neurology, Medical University-Sofia, 1 Georgi Sofiiski Str, Sofia, Bulgaria
  • Pediatric Neurology Department, Hospital Al. Obregia, Sos. Berceni No 10-14 Sect 1, Bucharest, Romania
  • University of Calgary, Rm 2019, Health Sciences Centre, 3330, Hospital Drive, NW, T2N 4N1, Calgary, AB, Canada
  • Shulich School of Medicine and London Health Sciences Centre, Western University, London, ON, Canada
  • University Hospital in Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic
  • Institute of Biostatistics and Analysis, Masaryk University, Kamenice 3, 625 00, Brno, Czech Republic
  • Asociación Mexicana de Atrofia Muscular Espinal Guadalajara, Jalisco México and CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
  • Department of Neurology, Auckland City Hospital, Private Bag 92024, 1142, Auckland, New Zealand
  • Department of Health, Office of Population Health Genomics, Stirling Street, PO Box 8172, 6849, Perth, WA, Australia
  • Turku University Central Hospital, P.B. 52, 20521, Turku, Finland
  • Department of Child Neurology, University Hospital for Children Disease, Skopje, Macedonia
  • Laboratoire de génétique moléculaire, Service de génétique, Faculté de médecine et de pharmacie de Rouen, 22 Boulevard Gambetta, 76183, Rouen, France
  • Paediatric Neurology and Neurorehabilitation Unit, Département médicochirurgical de pédiatrie - DMCP, University Hospital of Lausanne, Lausanne, Switzerland
  • Department of Paediatric Neurology, University Children’s Hospital, Zurich, Switzerland
  • Hospital Sant Joan de Deu, Barcelona, Spain
  • Hospital de Sant Pau and CIBERER, U-705, Barcelona, Spain
  • Australian Regenerative Medicine Institute, EMBL-Australia, Monash University, Clayton Campus, Melbourne, Australia
  • Pediatric Neurology Unit, Catholic University, Rome, Italy
  • Karolinska Institutet, Stockholm, Sweden
  • Department of Paediatric Neurology and Muscle Disorders, University Medical Centre, Freiburg, Germany
  • Department of Neurology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands
  • AP-HM, Département de Génétique Médicale, Hôpital d¹enfants, Timone, Marseille, France
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00415-013-7154-1

    DOI

    http://dx.doi.org/10.1007/s00415-013-7154-1

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1008823387

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24162038


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