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Sleep-disordered breathing and its management in children with rare skeletal dysplasias

Duy Bo Nguyen1,2, Sonia Khirani1,3,4, Lucie Griffon1,3

  • 1AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

American Journal of Medical Genetics. Part A
|April 28, 2021
PubMed

Insights

Sleep-disordered breathing (SDB) is common in children with rare skeletal dysplasias. Systematic screening and treatments like CPAP and NIV are crucial for managing obstructive sleep apnea (OSA) and hypoventilation.

Area of Science:

  • Pediatric Pulmonology
  • Rare Diseases
  • Genetics

Background:

  • Sleep-disordered breathing (SDB) is a frequent complication in children with skeletal dysplasias.
  • Understanding the spectrum of SDB and its management in rare skeletal conditions is essential for patient care.

Purpose of the Study:

  • To analyze the prevalence of SDB and evaluate respiratory management strategies in children with various rare skeletal dysplasias.
  • To assess the outcomes of different interventions for SDB in this patient population.

Main Methods:

  • Retrospective analysis of 31 children with rare skeletal dysplasias (SEDC, MD, SEMD, ADO, GD, AD, SCD) from April 2014 to October 2020.
  • Inclusion of polygraphic data, clinical management details, and patient outcomes.
  • Categorization of obstructive sleep apnea (OSA) severity and analysis of treatment modalities.

Main Results:

  • Sixteen out of 31 patients (51.6%) were diagnosed with OSA, ranging from mild to severe.
  • Treatments included adenotonsillectomy, adeno-turbinectomy, continuous positive airway pressure (CPAP), and noninvasive ventilation (NIV).
  • NIV was effective for moderate OSA with nocturnal hypoxemia and severe OSA with hypoventilation; CPAP was used for severe OSA.

Conclusions:

  • OSA and/or alveolar hypoventilation are highly prevalent in children with skeletal dysplasias, necessitating systematic SDB screening.
  • CPAP and NIV are effective therapeutic options for managing OSA and nocturnal respiratory disturbances in these patients.

Keywords:
alveolar hypoventilationobstructive sleep apneapolygraphyskeletal dysplasiasleepsleep-disordered breathing

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