ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease

Abstract

The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a concise review of the Pediatric Pulmonary Medicine Core Curriculum presented at the 2022 American Thoracic Society International Conference. Neuromuscular diseases (NMD) comprise a variety of conditions that commonly affect the respiratory system and cause significant morbidity including dysphagia, chronic respiratory failure, and sleep disordered breathing. Respiratory failure is the most common cause of mortality in this population. Substantial progress has been made in diagnosis, monitoring and treatment for NMD over the last decade. Pulmonary function testing (PFT) is utilized to objectively measure respiratory pump function and PFT milestones are utilized in NMD‐specific pulmonary care guidelines. New disease modifying therapies are approved for the treatment of patients with Duchenne muscular dystrophy and spinal muscular atrophy (SMA), including the first ever approved systemic gene therapy, in the case of SMA. Despite extraordinary progress in the medical management of NMD, little is known regarding the respiratory implications and long‐term outcomes for patients in the era of advanced therapeutics and precision medicine. The combination of technological and biomedical advancements has increased the complexity of the medical decision‐making process for patients and families, thus emphasizing the importance of balancing respect for autonomy with the other foundational principles of medical ethics. This review features an overview of PFT, noninvasive ventilation strategies, novel and developing therapies, as well as the ethical considerations specific to the management of patients with pediatric NMD.

Pulmonary manifestations of STAC3 disorder: A case series

“…4 Further, with progressive restrictive lung disease, nocturnal support with positive airway pressure can alleviate nocturnal hypoventilation. 4 It is imperative to have up to date medical history, documentation, and clear communication when preparing these patients for procedures as they are at an increased risk of malignant hyperthermia. Although the genetics of MH are not fully understood the reactions generally occurs in people with RYR1, CACNA1S, or STAC3 mutations, with most cases being due to a defect in the ryanodine receptor.…”

“…Many of the complications that these patients face arise in the setting of respiratory infections or difficulties with aspiration. 4 Thus, as respiratory weakness progresses, the addition of an assisted cough device using positive and negative pressure will promote airway clearance. 4 Further, with progressive restrictive lung disease, nocturnal support with positive airway pressure can alleviate nocturnal hypoventilation.…”

“…4 Thus, as respiratory weakness progresses, the addition of an assisted cough device using positive and negative pressure will promote airway clearance. 4 Further, with progressive restrictive lung disease, nocturnal support with positive airway pressure can alleviate nocturnal hypoventilation. 4 It is imperative to have up to date medical history, documentation, and clear communication when preparing these patients for procedures as they are at an increased risk of malignant hyperthermia.…”