Related Experiment Video
Updated: Jul 31, 2025
Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease
Carmen Leon-Astudillo1, Caroline U A Okorie2, Michael Y McCown3
1Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
Insights
Pediatric neuromuscular diseases (NMD) significantly impact respiratory health, leading to failure and mortality. Advances in therapies require updated understanding of respiratory care and ethical considerations for children with NMD.
Area of Science:
- Pediatric Pulmonology
- Neuromuscular Diseases
- Respiratory Medicine
Background:
- Neuromuscular diseases (NMD) present significant respiratory challenges in children, including dysphagia, chronic respiratory failure, and sleep-disordered breathing.
- Respiratory failure is a leading cause of mortality in pediatric NMD patients.
- Recent advancements in NMD diagnosis, monitoring, and treatment, including gene therapy for spinal muscular atrophy (SMA), necessitate updated clinical guidance.
Purpose of the Study:
- To provide a concise review of the Pediatric Pulmonary Medicine Core Curriculum from the 2022 American Thoracic Society International Conference.
- To highlight key updates in the management of respiratory implications in pediatric neuromuscular diseases.
- To address the evolving landscape of advanced therapeutics and ethical considerations in pediatric NMD care.
Main Methods:
- Review of the 2022 American Thoracic Society International Conference Pediatric Pulmonary Medicine Core Curriculum.
- Synthesis of current knowledge on respiratory management in pediatric neuromuscular diseases.
- Discussion of pulmonary function testing, noninvasive ventilation, novel therapies, and ethical considerations.
Main Results:
- Pulmonary function testing (PFT) remains crucial for assessing respiratory pump function and guiding care.
- New disease-modifying therapies, including gene therapy for SMA, offer improved treatment options.
- There is a growing need to understand long-term respiratory outcomes in the era of precision medicine.
Conclusions:
- Effective management of pediatric NMD requires a comprehensive approach integrating respiratory care, advanced therapeutics, and ethical decision-making.
- Clinicians must stay abreast of rapid advancements in NMD treatment and their respiratory implications.
- Balancing patient autonomy with medical ethics is paramount in complex pediatric NMD cases.
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.
Related Concept Videos
01:19Standards of Care II
01:20Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
01:28Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
01:22Standards of Care I
01:21Satellite Stem Cells and Muscular Dystrophy
01:29Planning Nursing Care II