Congenital central hypoventilation syndrome: four families

Trivedi, Amit, Waters, Karen, Suresh, Sadasivam and Nair, Rashmi (2011) Congenital central hypoventilation syndrome: four families. Sleep and Breathing, 15 4: 785-789. doi:10.1007/s11325-010-0439-z

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Author Trivedi, Amit
Waters, Karen
Suresh, Sadasivam
Nair, Rashmi
Title Congenital central hypoventilation syndrome: four families
Journal name Sleep and Breathing   Check publisher's open access policy
ISSN 1520-9512
Publication date 2011-12-01
Year available 2010
Sub-type Article (original research)
DOI 10.1007/s11325-010-0439-z
Volume 15
Issue 4
Start page 785
End page 789
Total pages 5
Place of publication Heidelberg, Germany
Publisher Springer
Language eng
Formatted abstract
Congenital central hypoventilation syndrome (CCHS) is a rare condition that usually presents soon after birth and is potentially life-shortening if not treated. The defining abnormality is hypoventilation during sleep which requires life-long treatment with artificial ventilation. This syndrome may also be associated with generalised dysfunction of the autonomic nervous system and a sub-group with associated Hirschsprung's disease. The genetic basis of CCHS has been identified as mutations in the PHOX2B gene.

We present four families, three with autosomal dominant inheritance and familial clustering, and one with a de novo mutation resulting in CCHS.

We demonstrate that nasal mask ventilation from birth can provide adequate treatment and improved quality of life for these children. Phenotypic variability in expression of disease is seen in families with the same mutations in PHOX2B gene. The psychosocial costs of the disease and the unrecognised 'morbidity barter' that is part of current management needs to be factored into in all stages of management from childhood to adolescence to adulthood.
Keyword Sleep apnea
Central hypoventilation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online: 14 November 2010.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
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