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

Ankit Kumar Meena1, Gautam Kamila1, Vaishak Anand1

  • 1Centre of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Indian Journal of Pediatrics
|January 13, 2025
PubMed

Insights

Nearly half of children with dystrophinopathy experience impaired pulmonary function, even early in the disease. This pulmonary dysfunction is linked to motor function and specific genetic deletions, highlighting the need for early monitoring.

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.
Abstract

Keywords:
Brooke scaleDuchenne muscular dystrophy (DMD)DystrophinopathyPulmonary function testSix-minute walk testVignos scale

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