Eugenio Mercuri1, Simona Lucibello2, Maria Carmela Pera2, Sara Carnicella2, Giorgia Coratti2, Roberto de Sanctis2, Sonia Messina2, Elena Mazzone2, Nicola Forcina2, Lavinia Fanelli2, Giulia Norcia2, Laura Antonaci2, Anna Lia Frongia2, Marika Pane2. 1. From Pediatric Neurology (E.M., S.L., M.C.P., G.C., L.A., A.L.F.), Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore; Centro Clinico Nemo (E.M., S.L., M.C.P., S.C., G.C., R.d.S., E.M., N.F., L.F., G.N., L.A., A.L.F., M.P.), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome; and Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina, Italy. eugeniomaria.mercuri@unicatt.it. 2. From Pediatric Neurology (E.M., S.L., M.C.P., G.C., L.A., A.L.F.), Department of Woman and Child Health and Public Health, Child Health Area, Università Cattolica del Sacro Cuore; Centro Clinico Nemo (E.M., S.L., M.C.P., S.C., G.C., R.d.S., E.M., N.F., L.F., G.N., L.A., A.L.F., M.P.), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome; and Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina, Italy.
Abstract
OBJECTIVE: To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed with the Hammersmith Functional Motor Scale-Expanded. METHODS: Seventy-three patients (age 2.6-25 years) were included in the study. Twenty-eight of the 73 were first assessed before the age of 5 years and had been followed up for ≈5 years or longer. We observed an overall progression that was not linear. A piecewise regression analysis showed an improvement of scores in the younger patients with a point of slope change at ≈5 years of age, a decline between 5 and 13 years of age, and stability/slower decline after that. RESULTS: Patients with the lowest scores at baseline had the earliest onset of scoliosis and a higher need for noninvasive ventilation compared to those with higher scores. Our results confirm that on the long-term follow-up all patients with type II SMA show a clear and progressive decline. CONCLUSION: The severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression, including onset of scoliosis and need for noninvasive ventilation.
OBJECTIVE: To report the long-term progression in a cohort of patients with type II spinal muscular atrophy (SMA) assessed with the Hammersmith Functional Motor Scale-Expanded. METHODS: Seventy-three patients (age 2.6-25 years) were included in the study. Twenty-eight of the 73 were first assessed before the age of 5 years and had been followed up for ≈5 years or longer. We observed an overall progression that was not linear. A piecewise regression analysis showed an improvement of scores in the younger patients with a point of slope change at ≈5 years of age, a decline between 5 and 13 years of age, and stability/slower decline after that. RESULTS:Patients with the lowest scores at baseline had the earliest onset of scoliosis and a higher need for noninvasive ventilation compared to those with higher scores. Our results confirm that on the long-term follow-up all patients with type II SMA show a clear and progressive decline. CONCLUSION: The severity of functional impairment at baseline can help to predict the magnitude of changes over time and the overall progression, including onset of scoliosis and need for noninvasive ventilation.
Authors: Giorgia Coratti; Maria Carmela Pera; Jacqueline Montes; Amy Pasternak; Mariacristina Scoto; Giovanni Baranello; Sonia Messina; Sally Dunaway Young; Allan M Glanzman; Tina Duong; Roberto De Sanctis; Elena Stacy Mazzone; Evelin Milev; Annemarie Rohwer; Matthew Civitello; Marika Pane; Laura Antonaci; Anna Lia Frongia; Maria Sframeli; Gian Luca Vita; Adele DʼAmico; Irene Mizzoni; Emilio Albamonte; Basil T Darras; Enrico Bertini; Valeria A Sansone; Francesca Bovis; John Day; Claudio Bruno; Francesco Muntoni; Darryl C De Vivo; Richard Finkel; Eugenio Mercuri Journal: Muscle Nerve Date: 2021-08-09 Impact factor: 3.852
Authors: Federica Trucco; Deborah Ridout; Mariacristina Scoto; Giorgia Coratti; Marion L Main; Robert Muni Lofra; Anna G Mayhew; Jacqueline Montes; Marika Pane; Valeria Sansone; Emilio Albamonte; Adele D'Amico; Enrico Bertini; Sonia Messina; Claudio Bruno; Deepak Parasuraman; Anne-Marie Childs; Vasantha Gowda; Tracey Willis; Min Ong; Chiara Marini-Bettolo; Darryl C De Vivo; Basil T Darras; John Day; Elizabeth A Kichula; Oscar H Mayer; Aledie A Navas Nazario; Richard S Finkel; Eugenio Mercuri; Francesco Muntoni Journal: Neurology Date: 2020-10-16 Impact factor: 9.910