Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

Neuromuscular Disorders - Tập 30 - Trang 756-764 - 2020
Giorgia Coratti1,2, Maria C Pera1,2, Simona Lucibello1,2, Jacqueline Montes3,4, Amy Pasternak5, Anna Mayhew6, Allan M Glanzman7, Sally Dunaway Young8, Marika Pane2, Mariacristina Scoto9, Sonia Messina10, Nathalie Goemans11, Andres Nascimiento Osorio12, Marina Pedemonte13, Valeria Sansone14, Enrico Bertini15, Darryl C. De Vivo3, Richard Finkel16, Francesco Muntoni9,17, Eugenio Mercuri1,2
1Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy
2Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
3Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States
4Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, United States
5Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States
6The John Walton Muscular Dystrophy Research Centre, Newcastle University, Integrated Laboratory Medicine Directorate, Institute of Genetic Medicine, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom
7Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia
8Department of Neurology, Stanford University, Stanford, CA, United States
9Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London
10Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy
11Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium
12Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain
13Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
14Neurorehabilitation Unit, University of Milan, The NEMO Clinical Center in Milan, Italy
15Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino GesùChildren’s Hospital, Rome, Italy
16Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, United States
17NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom

Tài liệu tham khảo

Kaufmann, 2011, Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year, Arch Neurol, 68, 779, 10.1001/archneurol.2010.373 Kaufmann, 2012, Prospective cohort study of spinal muscular atrophy types 2 and 3, Neurology, 79, 1889, 10.1212/WNL.0b013e318271f7e4 Finkel, 2016, Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study, Lancet, 388, 3017, 10.1016/S0140-6736(16)31408-8 Mercuri, 2018, Nusinersen versus sham control in later-onset spinal muscular atrophy, N Engl J Med, 378, 625, 10.1056/NEJMoa1710504 Pechmann, 2018, Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1, Eur J Paediatr Neurol, 22, 122, 10.1016/j.ejpn.2017.11.001 Messina, 2017, Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience, Neuromuscul Disord, 27, 1084, 10.1016/j.nmd.2017.09.006 Mercuri, 2016, Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials, Neuromuscul Disord, 26, 126, 10.1016/j.nmd.2015.10.006 Mercuri, 2019, Long-term progression in type II spinal muscular atrophy: a retrospective observational study, Neurology, 93, e1241, 10.1212/WNL.0000000000008166 Berard, 2008, Outcome measure for SMA II and III patients, Neuromuscul Disord, 18, 593, 10.1016/j.nmd.2008.05.005 Barois, 2005, [Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]., Bull Acad Natl Med, 189, 1181 Pane, 2008, Daily salbutamol in young patients with SMA type II, Neuromuscul Disord, 18, 536, 10.1016/j.nmd.2008.05.004 Main, 2003, The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation, Eur J Paediatr Neurol, 7, 155, 10.1016/S1090-3798(03)00060-6 O'Hagen, 2007, An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients, Neuromuscul Disord, 17, 693, 10.1016/j.nmd.2007.05.009 Mazzone, 2014, Hammersmith functional motor scale and motor function measure-20 in non ambulant SMA patients, Neuromuscul Disord, 24, 347, 10.1016/j.nmd.2014.01.003 Mazzone, 2016, Revised upper limb module for spinal muscular atrophy: development of a new module, Muscle Nerve Pera, 2019, Revised upper limb module for spinal muscular atrophy: 12 month changes, Muscle Nerve, 59, 426, 10.1002/mus.26419 Goemans, 2016, Individualized prediction of changes in 6-minute walk distance for patients with duchenne muscular dystrophy, PLoS One, 11, 10.1371/journal.pone.0164684 Mercuri, 2016, Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy, Neuromuscul Disord, 26, 576, 10.1016/j.nmd.2016.05.016
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Neuromuscular Disorders

Tập 30

756-764

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