Age and baseline values predict 12 and 24-month functional changes in type 2 SMA |
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| Institution: | 1. Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy;2. Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy;3. Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, United States;4. Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, United States;5. Departments of Neurology, Boston Children''s Hospital, Harvard Medical School, Boston, MA, United States;6. The 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;7. Department of Physical Therapy, The Children''s Hospital of Philadelphia, Philadelphia;8. Department of Neurology, Stanford University, Stanford, CA, United States;9. Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London;10. Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy;11. Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium;12. Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona, Spain;13. Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy;14. Neurorehabilitation Unit, University of Milan, The NEMO Clinical Center in Milan, Italy;15. Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino GesùChildren’s Hospital, Rome, Italy;p. Nemours Children''s Hospital, University of Central Florida College of Medicine, Orlando, United States;q. NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom;1. Pediatric Neurology, Università Cattolica del Sacro Cuore, Largo Gemelli 8, 00168 Rome, Italy;2. Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy;3. Nemours Children''s Hospital, University of Central Florida College of Medicine, Orlando, USA;4. Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London United Kingdom;5. NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom;6. Biogen, Cambridge, USA;1. The NEMO Clinical Center in Milan, Milan, Italy;2. Neurorehabilitation Unit, University of Milan, Milan, Italy;3. Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy;4. Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy;5. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;6. Nemo SUD Clinical Center, University Hospital “G. Martino”, Messina, Italy;7. Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children''s Hospital, IRCCS, Rome, Italy;8. Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy;9. University of Rochester, NY, United States;10. Center for Health and Technology (Outcomes Division), Rochester, NY, United States |
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| Abstract: | The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE) assessments at 12 month- and 305 at 24 month- intervals. The cohort was subdivided by functional level, Survival of Motor Neuron copy number and age. Stable scores (± 2 points) were found in 68% at 12 months and in 55% at 24 months. A decrease ≥2 points was found in 21% at 12 months and in 35% at 24 months. An increase ≥2 points was found in 11% at 12 months and 9.5% at 24 months. The risk of losing ≥2 points increased with age and HFMSE score at baseline both at 12 and 24-month. For each additional HFMSE point at baseline, the relative risk of a >2 point decline at 12 months increases by 5% before age 5 years (p = 0.023), by 8% between 5 and 13 (p<0.001) and by 26% after 13 years (p = 0.003). The combination of age and HFMSE scores at baseline increased the ability to predict progression in type 2 SMA. |
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