Treating hypoxia in a feeble breather with Rett syndrome

Julu, P.O.O., Witt Engerström, I., Hansen, S., Apartopoulos, F. and Engerström, B. (2013) Treating hypoxia in a feeble breather with Rett syndrome. Brain and Development, 35(3), pp. 270-273. (doi: 10.1016/j.braindev.2012.04.004)

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 pO2 and pCO2. We conclude that subtle changes in the levels of blood gases significantly affect cortical function in RS.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Hansen, Dr Stig
• Authors: Julu, P.O.O., Witt Engerström, I., Hansen, S., Apartopoulos, F., and Engerström, B.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Brain and Development
• ISSN: 0387-7604