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Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia

Sébastien Julliand1, Michèle Boulé, Geneviève Baujat

  • 1AP-HP, Hôpital Armand Trousseau, Pediatric Pulmonary Department, Paris, France.

American Journal of Medical Genetics. Part A
|June 20, 2012
PubMed

Insights

Children with achondroplasia frequently experience sleep-disordered breathing. Systematic sleep studies and interventions like upper airway surgery or noninvasive positive pressure ventilation (NPPV) are crucial for managing this condition.

Area of Science:

  • Pediatrics
  • Sleep Medicine
  • Genetics

Background:

  • Achondroplasia, a genetic disorder, is associated with significant risks for sleep-disordered breathing (SDB) in children.
  • Evaluating lung function and SDB is essential for comprehensive care in pediatric achondroplasia patients.

Purpose of the Study:

  • To assess lung function and the prevalence of sleep-disordered breathing in children with achondroplasia.
  • To determine the effectiveness of interventions for SDB in this population.

Main Methods:

  • A prospective study involving 30 children with achondroplasia (median age 3.0 years).
  • Evaluations included interviews, clinical examinations, lung function tests with blood gases, and polygraphic sleep studies.
  • Data collected over 21 months during routine annual evaluations.

Main Results:

  • 93% of patients exhibited abnormal sleep findings.
  • High prevalence of habitual snoring (77%) and witnessed apneas (33%).
  • Significant SDB indicators including apnea-hypopnea index (87% ≥5 events/hr) and desaturation index (73% >5/hr).
  • Interventions like upper airway surgery and noninvasive positive pressure ventilation (NPPV) led to improved sleep study results in all treated patients.

Conclusions:

  • Children with achondroplasia have a very high prevalence of sleep-disordered breathing.
  • Routine sleep studies are recommended for early detection and management.
  • Upper airway surgery and NPPV are effective therapeutic options for SDB in this cohort.

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