Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study.

Area of Science:

• Pediatric Pulmonology
• Neuromuscular Disorders
• Genetics

Background:

• Dystrophinopathy, including Duchenne muscular dystrophy (DMD), affects muscle strength and can impact respiratory function.
• Pulmonary complications are a major cause of morbidity and mortality in DMD patients.
• Understanding the prevalence and progression of pulmonary dysfunction is crucial for timely intervention.

Purpose of the Study:

• To determine the prevalence of impaired pulmonary function in children aged 5-18 with dystrophinopathy.
• To investigate the correlation between pulmonary dysfunction parameters and motor function.
• To identify potential genetic factors associated with pulmonary involvement.

Main Methods:

• Evaluated 133 children with confirmed DMD using pulmonary function tests (PFTs) and the six-minute walk test (6MWT).
• Assessed functional muscle strength with the Vignos and Brooke scales.
• Defined pulmonary dysfunction as <80% predicted forced vital capacity (FVC).

Main Results:

• Overall prevalence of pulmonary dysfunction was 48.12%.
• Prevalence varied by age group, with the 10-18 year group showing the highest rate (57.78%).
• Significant associations were found between predicted FVC and motor function parameters (6MWT, Vignos, Brooke scores) and specific genetic deletions (R17, 18, 19 spectrin-like repeats).

Conclusions:

• Impaired pulmonary function is prevalent in children with dystrophinopathy, appearing early in the disease course.
• The prevalence of pulmonary dysfunction is comparable in early and long-standing disease stages.
• Findings underscore the importance of early and ongoing respiratory monitoring in pediatric dystrophinopathy.