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Congenital Central Hypoventilation syndrome

How is it diagnosed?

The diagnosis of CCHS depends on documenting that under-breathing occurs during sleep, and that this is not due to a muscle, nerve or lung disease. Measured breathing can be done without discomfort to the baby by using skin sensors to monitor carbon dioxide and oxygen saturation. The diagnosis can be confirmed in over ninety-five per cent of cases by finding the genetic abnormality. In the UK, this is carried out by the South Western Regional Genetic Laboratory based at Southmead Hospital, Bristol.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written October 1996 by Dr M Samuels. Last updated August 2006 by Dr M Samuels, Consultant Paediatrician/Senior Lecturer in Paediatrics, North Staffordshire Hospital/Keele University, Stoke-on-Trent, UK.

 

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