title: Treating hypoxia in a feeble breather with Rett syndrome.
abstract: Rett syndrome (RS) is a unique X-linked dominant neurodevelopmental disorder affecting 1 in 10,000 females. Mutations in the MECP2 gene located on Xq28 have been identified. Many of the characteristic features evolve due to immaturity of the brain in RS. Cardiorespiratory function should be investigated early to characterise the clinical phenotype of the person with RS because each of the three cardiorespiratory phenotypes; apneustic, feeble and forceful breathers have unique and different management strategies. We report a case of a feeble breather showing a correlation between cortical function and tissue pO(2) and pCO(2). We conclude that subtle changes in the levels of blood gases significantly affect cortical function in RS.
authors.affiliation: Breakspear Medical Group, Hertfordshire, United Kingdom. p.julu@imperial.ac.uk
authors.forename: Peter O O
authors.initials: PO
authors.lastname: Julu
authors.forename: Ingegerd
authors.initials: I
authors.lastname: Witt Engerström
authors.forename: Stig
authors.initials: S
authors.lastname: Hansen
authors.forename: Flora
authors.initials: F
authors.lastname: Apartopoulos
authors.forename: Bengt
authors.initials: B
authors.lastname: Engerström
mesh_terms: D000328:Adult; D001341:Autonomic Nervous System / Q000503:physiopathology; D001785:Blood Gas Monitoring, Transcutaneous; D002245:Carbon Dioxide / Q000097:blood / Q000378:metabolism; D004562:Electrocardiography; D004569:Electroencephalography; D005260:Female; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D000860:Hypoxia / Q000209:etiology / Q000628:therapy*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010100:Oxygen / Q000097:blood; D012119:Respiration; D015656:Respiratory Mechanics / Q000502:physiology*; D012146:Rest / Q000502:physiology; D015518:Rett Syndrome / Q000150:complications / Q000628:therapy*; D014630:Vagus Nerve / Q000503:physiopathology
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D002245:Carbon Dioxide; D010100:Oxygen