Diagnosis, follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta.

OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep-disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB.

METHODS: A retrospective study of clinical records, signs of SDB and polysomnographic recordings of children with OI was performed. We paid particular attention to symptoms that could be associated with SDB in this population - scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar impression, autonomy - as well as data already known to be associated with obstructive sleep apnea such as body mass index and upper-airway impairment.

RESULTS: We reviewed the clinical charts of 188 patients referred to our genetic skeletal disorders reference center for OI. Among the 15 patients (8%) with polysomnographic recordings, 12 (6.4%) had sleep-disordered breathing. We found a negative correlation between the Brief Assessment of Motor Function score and Apnea Hypopnea Index (r=-0.68; p=0.01) and Desaturation Index (r=-0.62; p=0.02). The Apnea Hypopnea Index was higher for non-walkers than walkers (mean [SD]: 6.5 [3.6] vs. 2.4 [1.5]; p=0.02) and with type III versus IV OI. Two patients were started on continuous positive airway pressure ventilation, with clinical improvement.

CONCLUSION: For OI children, symptoms suggesting obstructive sleep disorders should be searched for systematically, especially in children with compromised autonomy, high body mass index, trunk deformations, and severe OI type.