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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.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2437-2441. Date of Electronic Publication: 2020 Aug 23. - Publication Year :
- 2020
-
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.<br /> (© 2020 Wiley Periodicals LLC.)
- Subjects :
- 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
Hypoventilation genetics
Mental Retardation, X-Linked genetics
Methyl-CpG-Binding Protein 2 genetics
Sleep Apnea Syndromes genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 182
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Report
- Accession number :
- 32830419
- Full Text :
- https://doi.org/10.1002/ajmg.a.61790