Abnormal computer tomographic chest scans in Paediatric spinal muscular atrophy

Abstract

Introduction/Aim: Paediatric Spinal Muscular Atrophy (SMA) is no longer considered palliative since widespread use of disease modifying agents. The aim was to characterize contemporary respiratory morbidity, not previously described. Methods: This study was a cross-sectional cohort study of computer tomographic chest scans (CT chest), videofluoroscopic swallow studies (VFSS), sputum cultures of children with SMA Type 1-3 on disease modifying agent(s), managed at Queensland Children's Hospital (QCH) in August 2021. CT chest scans were done in all children; VFSS for SMA type 1; sputum cultures taken during respiratory deterioration events. Results: Total 33/35 children with SMA Type 1-3 included. Two siblings excluded due to missing CT chest/VFSS/sputum cultures. All children were receiving disease modifying agent(s). Table 1 outlines findings. Type 1: Bronchiectasis (BE) and atelectasis present on CT scans of two children. Both patients were < 32 months old (mo) with Functional Oral Intake Score (FIOS) ≤3; One had multiple admissions for respiratory complications another had no admissions. One patient had BE alone: 62 mo with FIOS 3 and history of multiple respiratory admissions. Lastly 34 mo with FIOS 2 and multiple respiratory admissions had atelectasis alone. All patients were using Non- Invasive Ventilation (NIV). Type 2: Two patients had BE. One aged 8 years had normal RFTs and no history of swallow issues/respiratory admissions. Second patient aged 7 years had restrictive lung function (FVC 61% predicted) history of respiratory admissions, but no swallow abnormalities. Type 3: Two patients had BE. One aged 11 years had normal RFTs, the second was aged 14 years had restrictive RFTs (FVC 41% predicted). Neither patient had history of respiratory admissions/swallow abnormalities. Conclusion: Chronic radiographical changes is present in all types of paediatric SMA possible causes: ineffective cough, recurrent respiratory infections, or aspiration. VFSS abnormalities are common in Type 1 and should be assessed at diagnosis as per current SMA standards of care. (Figure Presented).L6377947402022-04-25 <br />