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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
Author(s) -
Baelen Amber,
Verhoustraeten Louise,
Kenis Sandra,
Meuwissen Marije,
Boudewyns An,
Hoorenbeeck Kim,
Verhulst Stijn
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61790
Subject(s) - hypoventilation , polysomnography , sleep and breathing , medicine , sleep disordered breathing , breathing , apnea , sleep apnea , pediatrics , anesthesia , obstructive sleep apnea , respiratory system
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.