title: Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.
abstract: Despite all the advances in diagnosis and management of Duchenne muscular dystrophy over the past 50 years, the average age at diagnosis in most countries in the world around is still around 4-5 years. This retrospective study investigates the age at diagnosis in Italy in the past 10 years. We report findings from 384 boys who were diagnosed with DMD from 2005 to 2014. The mean age at first medical contact, which raised the suspicion of DMD, was 31 months. The mean age at diagnosis was 41 months. The finding that more frequently brought to suspect a DMD was the incidental finding of consistent elevated creatine kinase serum level detected during routine assessments in children undergoing general anesthesia or with intercurrent illness. This was followed by motor delay and signs of muscle weakness. Initial concerns were raised by general pediatricians (29%), specialists at tertiary centers (35%) or first level hospitals (23%). In children presenting incidental elevated creatine kinase values the diagnosis was achieved earlier than in children presenting a developmental delay. The mean age at diagnosis in our cohort was about 10-12 months lower than that reported in other countries.
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: adele2.damico@opbg.net.
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Catteruccia
authors.affiliation: Developmental Neurology, Child Neurology, Neuromuscular Diseases and Neuroimmunology Units, Istituto Neurologico "Besta" Milan, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Baranello
authors.affiliation: Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Caserta, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
authors.affiliation: Neuromuscular and Rare Diseases Unit, Department of Neuroscience, and Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Govoni
authors.affiliation: INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Stefano Carlo
authors.initials: SC
authors.lastname: Previtali
authors.affiliation: Department of Pediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.affiliation: Neuromuscular Disorders Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: D'Angelo
authors.affiliation: Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.affiliation: Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.affiliation: Department of Neurosciences "Rita Levi Montalcini", University of Turin, Turin, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Ricci
authors.affiliation: Department of Neurosciences, University of Padua, Padua, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Pegoraro
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Pini
authors.affiliation: Child Neurology and Psychiatry Unit, "C. Mondino" Foundation, Pavia, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Berardinelli
authors.affiliation: NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, Ospedale Niguarda Cà Granda, Milan, Italy.
authors.forename: Ksenjia
authors.initials: K
authors.lastname: Gorni
authors.affiliation: Department of Developmental Neuroscience, I.R.C.S.S. Stella Maris Foundation, Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.affiliation: Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Vita
authors.affiliation: Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Trucco
authors.affiliation: Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Caserta, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Scutifero
authors.affiliation: Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Caserta, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Petillo
authors.affiliation: Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Caserta, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: D'Ambrosio
authors.affiliation: Developmental Neurology, Child Neurology, Neuromuscular Diseases and Neuroimmunology Units, Istituto Neurologico "Besta" Milan, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Ardissone
authors.affiliation: Developmental Neurology, Child Neurology, Neuromuscular Diseases and Neuroimmunology Units, Istituto Neurologico "Besta" Milan, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pasanisi
authors.affiliation: Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.affiliation: Department of Neurosciences "Rita Levi Montalcini", University of Turin, Turin, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Mongini
authors.affiliation: Neuromuscular and Rare Diseases Unit, Department of Neuroscience, and Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.affiliation: Neuromuscular and Rare Diseases Unit, Department of Neuroscience, and Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.affiliation: Department of Pediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000378:metabolism; D057210:Delayed Diagnosis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000503:physiopathology; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D009132:Muscles / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D058996:Quality Improvement
chemical_list: D015415:Biomarkers; D003402:Creatine Kinase
keywords: DMD; DMD screening; Delayed diagnosis; Survey