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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
- 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.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
medicine.diagnostic_test
business.industry
MECP2 duplication syndrome
Sleep apnea
Polysomnography
030105 genetics & heredity
medicine.disease
Sleep in non-human animals
Hypoventilation
Obstructive sleep apnea
03 medical and health sciences
030104 developmental biology
Genetics
medicine
Breathing
Human medicine
medicine.symptom
business
Genetics (clinical)
Subjects
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