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

Abstract

Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extra skeletal findings are common but association with sleep disordered breathing (SDB) have never been described. The aim of this study was to investigate clinical features of children with OI and suspicion of SDB. A retrospective study of patient's clinical records, signs of SDB and polysomnographic recordings was performed. We paid particular attention to symptoms which could be associated with SDB in this population; scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar impression, autonomy; and data already known to be associated with obstructive sleep apnea such as body mass index and upper airway impairment. 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 recording, 12 (6.4%) had sleep disorder breathing. We found a negative correlation between Brief Assessment of Motor Function (BAMF) and Apnea Hypopnea Index (AHI) ( r = −0.68; P = 0.01) and Desaturation Index ( r = −0.62; P = 0.02). AHI tended to be higher in non-walkers (6.5 ± 3.6 versus 2.4 ± 1.5; P = 0.02), and in type III OI compared to type IV. Two patients were started on continuous positive airway pressure ventilation with clinical improvement. For OI children, symptoms suggestive of obstructive sleep disorders should be searched for systematically, especially when autonomy is compromised, body mass index is high, trunk deformations are identified, and in case of severe type of OI.