Salvatore Rossi1, Giacomo Della Marca1, Martina Ricci2, Alessia Perna2, Tommaso F Nicoletti2, Valerio Brunetti2, Emiliana Meleo3, Mariarosaria Calvello4, Antonio Petrucci5, Giovanni Antonini6, Elisabetta Bucci6, Loretta Licchelli6, Cristina Sancricca7, Roberto Massa8, Emanuele Rastelli8, Annalisa Botta9, Antonio Di Muzio10, Sonia Romano10, Matteo Garibaldi5, Gabriella Silvestri11. 1. Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. 2. Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. 3. NEuroMuscular Omnicentre (NEMO), Serena Onlus Foundation - Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Francesco Vito 1, 00168 Rome, Italy. 4. Pneumology Unit, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. 5. Center for Neuromuscular and Neurological Rare Diseases S. Camillo Forlanini Hospital, Cir.ne Gianicolense 87, 00152 Rome, Italy. 6. Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), School of Medicine and Psychology, Sapienza University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035, 00189 Rome, Italy. 7. Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy; Unione Italiana Lotta alla Distrofia Muscolare (UILDM) sez. Laziale, via Prospero Santacroce 5, 00167 Rome, Italy. 8. Neuromuscular Diseases Unit, Department of Systems Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. 9. Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy. 10. Regional Center for Neuromuscular Diseases, Ospedale Clinicizzato SS Annunziata, Via dei Vestini, 66100 Chieti, Italy. 11. Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. Electronic address: gabriella.silvestri@unicatt.it.
Abstract
INTRODUCTION: Respiratory complications are relevant in DM1, leading to a significantly increased morbidity and mortality risk in these patients; however, so far only few studies concerning respiratory function have been conducted in DM1 patients. We report a retrospective, multicenter, cross sectional study on a large cohort of DM1 patients widely characterized in the phenotype, to assess prevalence and identify predictors of restrictive respiratory syndrome. METHODS: 268 DM1 subjects aged >18 years, who had recently performed spirometric tests were included; restrictive syndrome was diagnosed if forced vital capacity (FVC) <80% of predicted. This cut-off was used for statistical univariate and multivariate analysis. RESULTS: 51.9% patients showed a restrictive syndrome, and half of them had indication to non-invasive ventilation (NIV), yet only 50% resulted compliant to NIV. CTG expansion size in leukocytes, clinical muscle severity, most functional parameters of respiratory muscle involvement, presence of cardiac conduction disturbances, pacemaker (PMK), exertion dyspnea, obstructive sleep apnea, and indication and compliance to NIV were all significantly associated with restrictive syndrome at the univariate analysis; in the multivariate model only the first two factors resulted independent predictors. DISCUSSION: A high prevalence of restrictive syndrome in our DM1 cohort, mainly due to respiratory muscles weakness, was observed and documented; the severity of muscle impairment and the CTG expansion size confirmed to be independent predictors of respiratory restriction. Our data suggest that optimization of respiratory therapeutic management, particularly regarding launching of NIV, might help to reduce the rate of deaths due to respiratory complications in DM1.
INTRODUCTION:Respiratory complications are relevant in DM1, leading to a significantly increased morbidity and mortality risk in these patients; however, so far only few studies concerning respiratory function have been conducted in DM1patients. We report a retrospective, multicenter, cross sectional study on a large cohort of DM1patients widely characterized in the phenotype, to assess prevalence and identify predictors of restrictive respiratory syndrome. METHODS: 268 DM1 subjects aged >18 years, who had recently performed spirometric tests were included; restrictive syndrome was diagnosed if forced vital capacity (FVC) <80% of predicted. This cut-off was used for statistical univariate and multivariate analysis. RESULTS: 51.9% patients showed a restrictive syndrome, and half of them had indication to non-invasive ventilation (NIV), yet only 50% resulted compliant to NIV. CTG expansion size in leukocytes, clinical muscle severity, most functional parameters of respiratory muscle involvement, presence of cardiac conduction disturbances, pacemaker (PMK), exertion dyspnea, obstructive sleep apnea, and indication and compliance to NIV were all significantly associated with restrictive syndrome at the univariate analysis; in the multivariate model only the first two factors resulted independent predictors. DISCUSSION: A high prevalence of restrictive syndrome in our DM1 cohort, mainly due to respiratory muscles weakness, was observed and documented; the severity of muscle impairment and the CTG expansion size confirmed to be independent predictors of respiratory restriction. Our data suggest that optimization of respiratory therapeutic management, particularly regarding launching of NIV, might help to reduce the rate of deaths due to respiratory complications in DM1.
Authors: Bettine A H Vosse; Charlotte Seijger; Nicolle Cobben; Baziel van Engelen; Sander M J van Kuijk; Catharina Faber; Peter Wijkstra Journal: Respiration Date: 2021-05-07 Impact factor: 3.580
Authors: Tiago Mateus; Filipa Martins; Alexandra Nunes; Maria Teresa Herdeiro; Sandra Rebelo Journal: Int J Environ Res Public Health Date: 2021-02-12 Impact factor: 3.390
Authors: Carola R Ferrari Aggradi; Elisa Falcier; Andrea Lizio; Alice Pirola; Jacopo Casiraghi; Alice Zanolini; Elena Carraro; Luca Mauro; Fabrizio Rao; Elisabetta Roma; Antonino Iannello; Elisa De Mattia; Andrea Barp; Sara Lupone; Valentina Gatti; Cristina Italiano; Valeria A Sansone Journal: Can Respir J Date: 2022-06-18 Impact factor: 2.130