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Am J Med Genet A ; 182(10): 2437-2441, 2020 10.
Article in English | MEDLINE | ID: mdl-32830419

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.


Subject(s)
Hypoventilation/genetics , Mental Retardation, X-Linked/genetics , Methyl-CpG-Binding Protein 2/genetics , Sleep Apnea Syndromes/genetics , Genetic Predisposition to Disease , Humans , Hypoventilation/diagnostic imaging , Hypoventilation/pathology , Infant , Infant, Newborn , Male , Mental Retardation, X-Linked/diagnostic imaging , Mental Retardation, X-Linked/pathology , Sleep Apnea Syndromes/diagnostic imaging , Sleep Apnea Syndromes/pathology
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