Oximetry and carbon dioxide screening for ventilatory requirements in children with spinal muscular atrophy type 1-3.

Introduction: Despite disease modifying treatments (DMT), assisted ventilation is commonly required in children with Spinal Muscular Atrophy (SMA). Guidelines suggest screening with oximetry and transcutaneous carbon dioxide (TcCO) for sleep disordered breathing (SDB).

Aim: To determine the utility of pulse oximetry and TcCO as a screen for SDB and the need for Non-Invasive Ventilation (NIV) in children with SMA type 1-3.

Dysphagia and Lung Disease in Children With Spinal Muscular Atrophy Treated With Disease-Modifying Agents.

Objectives: Disease-modifying agents (DMAs) for the treatment of spinal muscular atrophy (SMA) have evolved the SMA phenotype with improved survival. Ongoing oropharyngeal dysphagia and respiratory complications are reported. The extent of dysphagia and respiratory morbidity in this population, since DMAs' introduction, has not been well described.

Pleural effusion secondary to chronic pancreatitis in childhood.

Pleural effusion secondary to a pancreatico-pleural fistula is a very rare presentation in children, with limited reports in the literature. We describe two differing presentations of pleural effusions resulting from chronic pancreatitis (CP) with successful resolution of the pleural effusion. These cases highlight the need for consideration of this rare paediatric diagnosis, and the variety of investigations, management strategies, and complications that can occur in the setting of CP in children.

Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3.

Introduction: Nusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.

Aim: To assess the effects of nusinersen on respiratory function in paediatric SMA during first year of treatment.

Methods: A prospective observational study in paediatric patients with SMA who began receiving nusinersen in Queensland, Australia, from June 2018 to December 2019.

Endobronchial vasculitis in childhood granulomatosis with polyangiitis.

Laryngo-tracheo-bronchial disease in childhood granulomatosis with polyangiitis may acutely present with endobronchial small vessel vasculitis without airway stenosis. Treatment should not be delayed in the presence of haemoptysis as it may indicate acute pulmonary capillaritis which can lead to fatal respiratory failure from diffuse alveolar haemorrhage.

Flexible bronchoscopy in diagnosis and management of dual tracheoesophageal fistula: A case series.

Dual and H-type tracheoesophageal fistulae can present major diagnostic and management difficulties. A methodological approach with flexible bronchoscopy and a guide wire cannulation technique was used to diagnose, localize, and aid operative surgical management in five children with dual and H-type tracheoesophageal fistulae. All children had successful outcomes.

Forced oscillation technique in spinal muscular atrophy.

Background: Spinal muscular atrophy (SMA) causes respiratory compromise that is difficult to assess in young children. The forced oscillation technique (FOT) is commercially available for children as young as 2 years of age and is nonvolitional. The aim of this study was to assess the usefulness of FOT in young children with SMA.

Airway clearance in neuromuscular weakness.

Impaired airway clearance leads to recurrent chest infections and respiratory deterioration in neuromuscular weakness. It is frequently the cause of death. Cough is the major mechanism of airway clearance.

Spirometry is affected by intelligence and behavior in Duchenne muscular dystrophy.

Children with Duchenne muscular dystrophy (DMD) have progressive respiratory muscle weakness. Spirometry monitors progress, but is effort-dependent. Intelligence quotients (IQ) average one standard deviation below normal, and behavioral disturbance is common.

Relationship between peak cough flow and spirometry in Duchenne muscular dystrophy.

Spirometry is used to monitor respiratory progress in children with Duchenne muscular dystrophy (DMD). Mucociliary clearance depends on cough strength, which can be measured by peak cough flow (PCF). It is not routinely measured in most centers.

Height prediction from ulna length.

Height is fundamental to assessing growth and nutrition, calculating body surface area, and predicting pulmonary function in childhood. Its measurement is hindered by muscle weakness, joint, or spinal deformity. Arm span has been used as a substitute, but is inaccurate.

Prediction of childhood pulmonary function using ulna length.

Pulmonary function is important in neuromuscular weakness. In children, height determines normal values. Height measurement is unreliable when neuromuscular weakness or spinal deformity is present.