Sleep-Disordered Breathing And Nocturnal Hypoventilation In Children With The Mecp2 Duplication Syndrome: A Case Series And Review Of The Literature

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2020)

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摘要
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.
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关键词
hypoventilation, MECP2 duplication syndrome, non-invasive ventilation, obstructive sleep apnea, respiratory infections, sleep-disordered breathing
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