A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome. Issue 12 (18th November 2018)

• Record Type: Journal Article
• Authors: Facchina, Giulia; Amaddeo, Alessandro; Baujat, Geneviève; Breton, Sylvain; Michot, Caroline; Thierry, Briac; James, Syril; de Saint Denis, Timothé; Zerah, Michel; Khirani, Sonia; Cormier‐Daire, Valerie; Fauroux, Brigitte
• Is Part Of: American journal of medical genetics. Volume 176:Issue 12(2018)
• Page Start: 2595
• Page End: 2603
• Publication Date: 2018-11-18
• Subjects: Morquio‐A syndrome -- noninvasive ventilation -- sleep -- sleep‐disordered breathing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40642
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Respiratory problems are common in Morquio‐A syndrome (MPS IVA) but objective data on sleep‐disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea‐hypopnea index [AHI] ≥1.5 and <5 events/hr), three patients had moderate OSA (AHI ≥5 and <10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy ± tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index >5 events/hr despite prior cervico‐occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA ( n = 4), nocturnal hypoventilation ( n = 1), or impossibility to be weaned from NIV after an acute respiratory failure ( n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep‐disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep‐disordered breathing.