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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.
van Baelen, Amber; Verhoustraeten, Louise; Kenis, Sandra; Meuwissen, Marije; Boudewyns, An; van Hoorenbeeck, Kim; Verhulst, Stijn.
Afiliación
  • van Baelen A; Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.
  • Verhoustraeten L; Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.
  • Kenis S; Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.
  • Meuwissen M; Center of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
  • Boudewyns A; Department of ENT, Antwerp University Hospital, Antwerp, Belgium.
  • van Hoorenbeeck K; Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.
  • Verhulst S; Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.
Am J Med Genet A ; 182(10): 2437-2441, 2020 10.
Article en En | MEDLINE | ID: mdl-32830419
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes de la Apnea del Sueño / Discapacidad Intelectual Ligada al Cromosoma X / Proteína 2 de Unión a Metil-CpG / Hipoventilación Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes de la Apnea del Sueño / Discapacidad Intelectual Ligada al Cromosoma X / Proteína 2 de Unión a Metil-CpG / Hipoventilación Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos