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


  • How to Cite this Article: Julliand S, Boulé M, Baujat G, Ramirez A, Couloigner V, Beydon N, Zerah M, di Rocco F, Lemerrer M, Cormier-Daire V, Fauroux B. 2012. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet Part A. 158A:1987–1993.

  • None of the authors has any conflict of interest with this study.


Children with achondroplasia are at risk of sleep-disordered breathing. The aim of the study was to evaluate lung function and sleep-disordered breathing in children with achondroplasia. An interview, clinical examination, lung function tests with blood gases, and a polygraphic sleep study were obtained as part of routine annual evaluation in consecutive children with achondroplasia. We included 30 children (median age 3.0 years, range: 0.4–17.1) over a period of 21 months. Habitual snoring and witnessed apneas were observed in 77% and 33% of the patients, respectively. Prior to the sleep study, 10/29 (34%) patients had undergone upper airway surgery and 5/29 (17%) craniocervical decompression operation. Arterial blood gases were abnormal in two (7%) patients. Sleep findings were abnormal in 28/30 (93%) patients. Eleven (37%) patients had an apnea index ≥1 event/hr and 26 (87%) had an apnea–hypopnea index ≥5 events/hr. The ≥3% desaturation index was >5/hr in 22 (73%) patients. Sixteen (53%) patients had a minimal pulse oximetry <90% but only two (7%) patients had a maximal transcutaneous carbon dioxide pressure >50 mmHg during sleep. As a consequence, the following therapeutic interventions were performed: upper airway surgery in four patients and noninvasive positive pressure ventilation (NPPV) in five other patients, resulting in an improvement in sleep studies in all nine patients. Systematic sleep studies are recommended in children with achondroplasia because of the high prevalence of sleep-disordered breathing. Upper airway surgery and NPPV are effective treatments of sleep-disordered breathing. © 2012 Wiley Periodicals, Inc.