Chronic suppurative lung disease (CSLD) in children with spinal muscular atrophy (SMA)1

Abstract

Introduction/Aim: Retrospective review of respiratory sequalae in Spinal Muscular Atrophy(SMA)1 children. The advent of disease modifying treatments for SMA has improved the survival of children with SMA 1 however pulmonary complications persist and potentially exacerbated by aspiration due to bulbar dysfunction. Methods: A retrospective chart review of 11 children with SMA 1 attending Queensland Children's Hospital Neuromuscular Clinic from 2018 to 2021 was undertaken to determine the prevalence of respiratory complications. Data collated included age of initiation of disease modifying treatment, age of initiation and use of NIV, frequency of respiratory illnesses and need for airway clearance physiotherapy, hospital admissions for respiratory complications, presence of bulbar dysfunction and/or gastroesophageal reflux and symptoms consistent with a clinical diagnosis of CSLD and/or bronchiectasis (BE) present on HRCT chest. Results: Five out of 11 children demonstrated a clinical picture of CSLD and/or BE confirmed on HRCT chest. Ten children underwent disease modifying treatments. Half of our treated cohort of SMA 1 children demonstrated varying degrees of persistent bulbar dysfunction, reporting daily upper airway secretions. Two were found to be colonized with Pseudomonas. Conclusion: With increased survival of children with SMA1 mortality from pulmonary complications is evolving into morbidity. As with all children with CSLD/non-CF BE, children with SMA1 may benefit from a regular, targeted home airway clearance program with an exacerbation plan to maintain lung health and minimize progression of lung disease.L6377948022022-04-25 <br />