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Sleep‐disordered breathing and nocturnal hypoventilation in children with the <scp> MECP2 </scp> duplication syndrome: A case series and review of the literature

Authors :
Marije Meuwissen
An Boudewyns
Stijn Verhulst
Louise Verhoustraeten
Amber van Baelen
Sandra Kenis
Kim Van Hoorenbeeck
Source :
American journal of medical genetics : part A
Publication Year :
2020
Publisher :
Wiley, 2020.

Abstract

There is limited knowledge on the occurrence of respiratory manifestations and sleep-disordered breathing in particular in children with theMECP2duplication 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.

Details

ISSN :
15524833 and 15524825
Volume :
182
Database :
OpenAIRE
Journal :
American Journal of Medical Genetics Part A
Accession number :
edsair.doi.dedup.....557dc5bc5e053f2e817ea3b17db92162
Full Text :
https://doi.org/10.1002/ajmg.a.61790