Marika Pane1, Concetta Palermo1, Sonia Messina1, Valeria A Sansone1, Claudio Bruno1, Michela Catteruccia1, Maria Sframeli1, Emilio Albamonte1, Marina Pedemonte1, Adele D'Amico1, Giorgia Brigati1, Roberto de Sanctis1, Giorgia Coratti1, Simona Lucibello1, Enrico Bertini1, Giuseppe Vita1, Francesco Danilo Tiziano1, Eugenio Mercuri2. 1. From Paediatric Neurology and Centro Clinico Nemo (M. Pane, C.P., R.d.S., G.C., S.L.), Catholic University and Fondazione Policlinico Gemelli IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M., M.S., G.V., E.M.), University of Messina and Centro Clinico Nemo, Messina; Neurorehabilitation Unit (V.S., E.A.), University of Milan, Centro Clinico Nemo, Niguarda Hospital, Milan; Center of Myology and Neurodegenerative Disorders (C.B., M. Pedemonte, G.B.), Istituto Giannina Gaslini, Genoa; Unit of Neuromuscular and Neurodegenerative Disorders (M.C., A.D., E.B.), Bambino Gesù Children's Hospital, Rome; and Institute of Genomic Medicine (F.D.T.), Catholic University, Rome, Italy. 2. From Paediatric Neurology and Centro Clinico Nemo (M. Pane, C.P., R.d.S., G.C., S.L.), Catholic University and Fondazione Policlinico Gemelli IRCCS, Rome; Department of Clinical and Experimental Medicine (S.M., M.S., G.V., E.M.), University of Messina and Centro Clinico Nemo, Messina; Neurorehabilitation Unit (V.S., E.A.), University of Milan, Centro Clinico Nemo, Niguarda Hospital, Milan; Center of Myology and Neurodegenerative Disorders (C.B., M. Pedemonte, G.B.), Istituto Giannina Gaslini, Genoa; Unit of Neuromuscular and Neurodegenerative Disorders (M.C., A.D., E.B.), Bambino Gesù Children's Hospital, Rome; and Institute of Genomic Medicine (F.D.T.), Catholic University, Rome, Italy. eugeniomaria.mercuri@unicatt.it.
Abstract
OBJECTIVE: To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. METHODS: We included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of SMN2 copies. RESULTS: Patients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or >16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination. CONCLUSIONS: Our findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available.
OBJECTIVE: To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. METHODS: We included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of SMN2 copies. RESULTS:Patients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or >16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination. CONCLUSIONS: Our findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available.
Authors: Stephen J Kolb; Christopher S Coffey; Jon W Yankey; Kristin Krosschell; W David Arnold; Seward B Rutkove; Kathryn J Swoboda; Sandra P Reyna; Ai Sakonju; Basil T Darras; Richard Shell; Nancy Kuntz; Diana Castro; Julie Parsons; Anne M Connolly; Claudia A Chiriboga; Craig McDonald; W Bryan Burnette; Klaus Werner; Mathula Thangarajh; Perry B Shieh; Erika Finanger; Merit E Cudkowicz; Michelle M McGovern; D Elizabeth McNeil; Richard Finkel; Susan T Iannaccone; Edward Kaye; Allison Kingsley; Samantha R Renusch; Vicki L McGovern; Xueqian Wang; Phillip G Zaworski; Thomas W Prior; Arthur H M Burghes; Amy Bartlett; John T Kissel Journal: Ann Neurol Date: 2017-12-08 Impact factor: 10.422
Authors: Allan M Glanzman; Michael P McDermott; Jacqueline Montes; William B Martens; Jean Flickinger; Susan Riley; Janet Quigley; Sally Dunaway; Jessica O'Hagen; Liyong Deng; Wendy K Chung; Rabi Tawil; Basil T Darras; Michele Yang; Douglas Sproule; Darryl C De Vivo; Petra Kaufmann; Richard S Finkel Journal: Pediatr Phys Ther Date: 2011 Impact factor: 3.049
Authors: A M Glanzman; E Mazzone; M Main; M Pelliccioni; J Wood; K J Swoboda; C Scott; M Pane; S Messina; E Bertini; E Mercuri; R S Finkel Journal: Neuromuscul Disord Date: 2010-01-13 Impact factor: 4.296
Authors: John R Bach; Katherine Saltstein; Diane Sinquee; Brian Weaver; Eugene Komaroff Journal: Am J Phys Med Rehabil Date: 2007-05 Impact factor: 2.159
Authors: Stephen J Kolb; Christopher S Coffey; Jon W Yankey; Kristin Krosschell; W David Arnold; Seward B Rutkove; Kathryn J Swoboda; Sandra P Reyna; Ai Sakonju; Basil T Darras; Richard Shell; Nancy Kuntz; Diana Castro; Susan T Iannaccone; Julie Parsons; Anne M Connolly; Claudia A Chiriboga; Craig McDonald; W Bryan Burnette; Klaus Werner; Mathula Thangarajh; Perry B Shieh; Erika Finanger; Merit E Cudkowicz; Michelle M McGovern; D Elizabeth McNeil; Richard Finkel; Edward Kaye; Allison Kingsley; Samantha R Renusch; Vicki L McGovern; Xueqian Wang; Phillip G Zaworski; Thomas W Prior; Arthur H M Burghes; Amy Bartlett; John T Kissel Journal: Ann Clin Transl Neurol Date: 2016-01-21 Impact factor: 4.511
Authors: Claudia A Chiriboga; Kathryn J Swoboda; Basil T Darras; Susan T Iannaccone; Jacqueline Montes; Darryl C De Vivo; Daniel A Norris; C Frank Bennett; Kathie M Bishop Journal: Neurology Date: 2016-02-10 Impact factor: 9.910
Authors: Jerry R Mendell; Nathalie Goemans; Linda P Lowes; Lindsay N Alfano; Katherine Berry; James Shao; Edward M Kaye; Eugenio Mercuri Journal: Ann Neurol Date: 2016-01-08 Impact factor: 10.422