children; nocturnal gas exchange; noninvasive ventilation; nusinersen; respiratory management; spinal muscular atrophy type 1; Pediatrics, Perinatology and Child Health; Pulmonary and Respiratory Medicine
Abstract :
[en] INTRODUCTION: The recent development of disease-modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' nocturnal gas exchanges before noninvasive ventilation (NIV) initiation and their clinical evolution to determine if capnia is a good criterion to decide when to introduce respiratory support.
PATIENTS AND METHODS: This multicentric retrospective study reports the respiratory management and evolution of 17 SMA type 1 children (10 females) for whom treatment with Nusinersen was initiated between 2016 and 2018.
RESULTS: Median [interquartile range-IQR] age at diagnosis and at first Nusinersen injection was of 4 [3;8] and 4 [3;9] months, respectively. Patients were followed during 38 [24;44] months. Thirteen (76%) patients were started on NIV at a median [IQR] age of 12 [9;18] months. Repeated hospitalizations and intensive care unit admissions were needed for 11 of them. Blood gas and nocturnal gas exchange recordings performed before NIV initiation were always normal. 9/13 X-ray performed before NIV showed atelectasis and/or acute lower respiratory tract infections. There was a significant decrease in the total number of hospital admissions between the first and second year of treatment (p = 0.04).
CONCLUSION: This study shows that patients do not present with nocturnal hypoventilation before respiratory decompensations and NIV initiation, and suggests that a delay in NIV initiation might result in respiratory complications. There is a need for disease-centered guidelines for the respiratory management of these patients, including NIV indications.
Disciplines :
Neurology Pediatrics
Author, co-author :
Menard, Joris; Department of Pediatric Pulmonology, Armand Trousseau University Hospital, Paris, France
Seferian, Andreea M; I-Motion, Hôpital Armand Trousseau, Paris, France
Fleurence, Emmanuelle; ESEAN-APF, Health Center for Children and Adolescents, Nantes, France
Barzic, Audrey; Department of Pediatric, Fondation Ildys, Brest, France
Binoche, Alexandra; Pediatric Intensive Care Unit Department, Centre Hospitalier Universitaire de Lille, Lille, France
Labouret, Géraldine; Department of Pediatric Pulmonology and Allergology, Children's Hospital, Toulouse, France
Coutier, Laurianne ; Department of Pediatric Pulmonology and Allergology, Reference Center for Cystic Fibrosis, Hôpital Mère Enfant, Bron, France ; U1028, CNRL, Lyon 1 University, Lyon, France
Vuillerot, Carole ; Service de Rééducation Pédiatrique Infantile "L'Escale", Hôpital Mère Enfant, Hospices Civils de Lyon, Lyon, France ; Neuromyogen Institute, CNRS UMR 5310-INSERM U1219, Lyon University, Lyon, France
Bieleu, Blaise M; Department of Pediatric Neurology and ICU, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, France ; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau national des maladies neuromusculaires, FILNEMUS, France ; European Reference Center Network (Euro-NMD ERN
Gomez Garcia de la Banda, Marta; Department of Pediatric Neurology and ICU, AP-HP Université Paris Saclay, Hôpital Raymond Poincaré, Garches, France ; Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau national des maladies neuromusculaires, FILNEMUS, France ; European Reference Center Network (Euro-NMD ERN ; URC APHP Paris-Saclay 4 Institut de Myologie, Paris 5 APHP Raymond Poincaré Hospital, Garche, France
Corvol, Harriet ; Department of Pediatric Pulmonology, Armand Trousseau University Hospital, Paris, France ; Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), Paris, France
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie ; Department of Paediatrics, MDUK Oxford Neuromuscular Center, University of Oxford, Oxford, UK
Taytard, Jessica ; Department of Pediatric Pulmonology, Armand Trousseau University Hospital, Paris, France ; UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique, INSERM, Sorbonne Université, Paris, France ; European Reference Network-Lung (ERN-Lung
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