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Sleep‐disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature |
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| Authors: | Amber van Baelen Louise Verhoustraeten Sandra Kenis Marije Meuwissen An Boudewyns Kim van Hoorenbeeck Stijn Verhulst |
| Affiliation: | 1. Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium;2. Center of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium;3. Department of ENT, Antwerp University Hospital, Antwerp, Belgium;4. Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium;5. https://orcid.org/0000-0002-1922-9716;6. Stijn Verhulst, Department of Pediatrics, Antwerp University Hospital, Wilrijkstraat 10, 2650 Edegem, Antwerp, Belgium. |
| Abstract: | There is limited knowledge on the occurrence of respiratory manifestations and sleep‐disordered breathing in particular in children with the MECP2 duplication syndrome. Although sleep‐disordered breathing and nocturnal hypoventilation are currently not cited as an important symptom in these children, we present three cases who all had an abnormal breathing during sleep. In view of the consequences associated with sleep apnea and hypoventilation, we advise to perform a polysomnography in children with MECP2 duplication. Different treatment modalities (ENT surgery, CPAP, and non‐invasive ventilation) can be applied to successfully treat these conditions. |
| Keywords: | hypoventilation MECP2 duplication syndrome non‐invasive ventilation obstructive sleep apnea respiratory infections sleep‐disordered breathing |