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1. A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript 'single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1' written by pechmann and colleagues'

Author

V.A. Sansone, M. Pane, S. Messina, C. Bruno, A. D'Amico, E. Albamonte, M. Catteruccia, M. Sframeli, M. Pedemonte, G. Vita, E. Bertini, E. Mercuri, Daniela Leone, Roberto de Sanctis, Nicola Forcina, Marco Piastra, Orazio Genovese, Alessandro Pedicelli, Antonio Versaci, Imma Rulli, Eloisa Gitto, Cristina Faraone, Stefania La Foresta, Maria Macrì, Giulia Colia, Anna Maria Bonetti, Adelina Carlesi, Renato Cutrera, Maria Beatrice Chiarini, Marta Ferretti, Alberto Garaventa, Giovanni Montobbio, Carlo Gandolfo, Valentina Iurilli, Paola Tacchetti, Emilia Bobeica, Alessia D'Agostino, Alice Pirola, Sara Lupone, Elisa De Mattia, Elisa Falcier, Fabrizio Rao, Jacopo Casiraghi, Francesca Salmin, Cristina Grandi, Fausto Fedeli, Luca Mancini, Paolo Stoia, Maurizio Heinen, Valeria Cozzi, Beatrice Travaglia, and Emma Mizzotti

Subjects
0301 basic medicine, medicine.medical_specialty, Neurology, Letter to the editor, Spinal, Child, Humans, Italy, Muscular Atrophy, Spinal, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030105 genetics & heredity, Intrathecal, Single Center, Pediatrics, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Medicine, medicine.diagnostic_test, business.industry, Lumbar puncture, General surgery, nusinersen, General Medicine, Spinal muscular atrophy, Perinatology and Child Health, medicine.disease, Muscular Atrophy, Nusinersen, business, Administration (government), 030217 neurology & neurosurgery
Published
2018

2. An observational study of functional abilities in infants, children, and adults with type 1 SMA

Author

Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, De Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico Silvio, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio Maria, Italian EAP Working Group: Daniela Leone, Gloria, Ferrantini, Beatrice, Berti, Pera, Maria Carmela, Nicola, Forcina, Sara, Carnicella, Giulia, Norcia, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Paola, Cimbolli, Antonio, Versaci, Imma, Rulli, Eloisa, Gitto, Cristina, Faraone, Stefania La Foresta, Maria, Macrì, Giulia, Colia, Anna Maria Bonetti, Adelina, Carlesi, Renato, Cutrera, Maria Beatrice Chiarini, Marta, Ferretti, Alberto, Garaventa, Giovanni, Montobbio, Carlo, Gandolfo, Valentina, Iurilli, Paola, Tacchetti, Emilia, Bobeica, Valentina, Lanzillotta, Alice, Pirola, Sara, Lupone, Elisa De Mattia, Elisa, Falcier, Fabrizio, Rao, Elisabetta, Roma, Caterina, Conti, Francesca, Salmin, Cristina, Grandi, Fausto, Fedeli, Luca, Mancini, Nicola, Tovaglieri, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Beatrice, Travaglia, Emma, Mizzotti, Daniela, Lauro, Luca, Binetti, Anita, Pallara, Simona, Spinoglio, Maria Letizia Solinas, Grazia, Zappa, Francesca, Penno, Cristina, Ponzanelli, and Casiraghi, Jacopo Luca

Subjects
Male, Pediatrics, medicine.medical_specialty, Activities of daily living, Cross-sectional study, medicine.medical_treatment, Oligonucleotides, Neurological examination, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Cohort Studies, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Severity of illness, Activities of Daily Living, medicine, Humans, 030212 general & internal medicine, SMA, Age of Onset, Child, Interactive Ventilatory Support, Preschool, medicine.diagnostic_test, business.industry, Spinal muscular atrophy type 1, Phenotype, SMN2 copies, Survival, Gastrostomy, Tracheostomy, Noninvasive ventilation, Infant, Spinal muscular atrophy, medicine.disease, Gastrostomy, Survival of Motor Neuron 1 Protein, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Child, Preschool, Mutation, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Cohort study
Abstract

ObjectiveTo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.MethodsWe 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.ResultsPatients 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.ConclusionsOur 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.

Published
2018

3. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Author

Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, and Simona Spinoglio

Subjects
0301 basic medicine, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Settore MED/41 - ANESTESIOLOGIA, Medicine, Humans, Genetics (clinical), Medical education, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Perinatology and Child Health, SMA, Survival of Motor Neuron 1 Protein, 030104 developmental biology, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Expanded access, Nusinersen, Expanded access program, business, 030217 neurology & neurosurgery
Published
2017

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