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Respiratory function and sleep in children with myotonic dystrophy type 1

Marie Cheminelle1, Marie-Christine Nougues2, Arnaud Isapof2

  • 1Pediatric Pulmonology Department, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France.

Neuromuscular Disorders : NMD
|February 13, 2023
PubMed

Insights

Pediatric Myotonic dystrophy type 1 (DM1) patients frequently experience sleep and breathing issues, including sleep apnea and hypoventilation. Early respiratory monitoring is crucial for managing these complex symptoms in children with DM1.

Area of Science:

  • Pediatric Pulmonology
  • Neuromuscular Disorders
  • Sleep Medicine

Background:

  • Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease with poorly documented sleep and respiratory complications in pediatric populations.
  • Adult DM1 respiratory and sleep issues are well-characterized, but pediatric data remains limited.

Purpose of the Study:

  • To investigate the prevalence and characteristics of sleep and respiratory disorders in children with DM1.
  • To provide insights for improved respiratory follow-up and management strategies in pediatric DM1 patients.

Main Methods:

  • Retrospective observational study involving 24 children diagnosed with DM1.
  • Data collection included pulmonary function tests, nocturnal gas exchange monitoring, and polysomnography.

Main Results:

  • 39% of children reported symptoms of sleep-disordered breathing.
  • Significant findings included restrictive respiratory patterns (12%), sleep apnea syndrome (42%, predominantly obstructive), and nocturnal alveolar hypoventilation (45%).
  • Non-invasive ventilation (NIV) was prescribed to 37.5% of patients, with poor tolerance noted.

Conclusions:

  • Pediatric DM1 patients exhibit a high burden of sleep and respiratory disorders, necessitating tailored clinical management.
  • Further research is required to elucidate the underlying mechanisms of these disorders in pediatric DM1 and optimize therapeutic interventions.

Keywords:
ChildrenEvolutionMyotonic dystrophy type 1Respiratory functionSleep

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