[en] [en] BACKGROUND: Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term efficacy of disease-modifying therapies (DMTs) necessitates an understanding of SMA natural history.
OBJECTIVE: This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs.
METHODS: Electronic databases (Embase, MEDLINE, and Evidence-Based Medicine Reviews) were searched from database inception to June 27, 2022, for studies reporting data on respiratory and/or bulbar function outcomes in Types 1-3 SMA. Data were extracted into a predefined template and a descriptive summary of these data was provided.
RESULTS: Ninety-one publications were included: 43 reported data on respiratory, swallowing, feeding, and/or speech function outcomes. Data highlighted early loss of respiratory function for patients with Type 1 SMA, with ventilatory support typically required by 12 months of age. Patients with Type 2 or 3 SMA were at risk of losing respiratory function over time, with ventilatory support initiated between the first and fifth decades of life. Swallowing and feeding difficulties, including choking, chewing problems, and aspiration, were reported in patients across the SMA spectrum. Swallowing and feeding difficulties, and a need for non-oral nutritional support, were reported before 1 year of age in Type 1 SMA, and before 10 years of age in Type 2 SMA. Limited data relating to other bulbar functions were collated.
CONCLUSIONS: Natural history data demonstrate that untreated patients with SMA experience respiratory and bulbar function deterioration, with a more rapid decline associated with greater disease severity. This study provides a comprehensive repository of natural history data on bulbar function in SMA, and it highlights that consistent assessment of outcomes in this area is necessary to benefit understanding and approval of new treatments.
Disciplines :
Pediatrics
Author, co-author :
Martí, Yasmina; F. Hoffmann-La Roche Ltd, Basel, Switzerland
Aponte Ribero, Valerie; F. Hoffmann-La Roche Ltd, Basel, Switzerland
Batson, Sarah; Mtech Access Limited, Bicester, UK
Mitchell, Stephen; Mtech Access Limited, Bicester, UK
Gorni, Ksenija; F. Hoffmann-La Roche Ltd, Basel, Switzerland
Gusset, Nicole; SMA Europe, Freiburg, Germany ; SMA Schweiz, Heimberg, Switzerland
Oskoui, Maryam; Departments of Pediatrics and Neurology Neurosurgery, McGill University, Montreal, Canada
Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
Deconinck, Nicolas; Neuromuscular Reference Center, UZ Gent, Ghent, Belgium ; Department Paediatric Neurology, Centre de Références des Maladies Neuromusculaires, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium
McGrattan, Katlyn Elizabeth; Department of Speech-Language-Hearing Science, University of Minnesota, Minneapolis, MN, USA ; Department of Rehabilitation, Masonic Children's Hospital, Minneapolis, MN, USA
Mercuri, Eugenio; Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy ; Centro Clinico Nemo, Fondazione Policlinico Gemelli, IRCCS, Rome, Italy
Sutherland, C Simone; F. Hoffmann-La Roche Ltd, Basel, Switzerland
Language :
English
Title :
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).
Medical writing and editorial assistance was provided by Rebecca Sullivan, PhD (Mtech Access, Bicester, UK), who helped to draft the manuscript, and Laura P\u00E9rez-Pach\u00F3n, PhD (Nucleus Global, London, UK), who helped with manuscript revisions, copyediting, and word processing, in accordance with Good Publication Practice (GPP) 2022 guidelines (https://www.ismpp.org/gpp-2022). Medical writing support was funded by F. Hoffmann-La Roche Ltd, Basel, Switzerland. This research was funded by F. Hoffmann-La Roche Ltd, Basel, Switzerland.
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