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Care of the Child with Congenital Central Hypoventilation Syndrome

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Caring for the Ventilator Dependent Child

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Abstract

Congenital hypoventilation syndromes are a rare group of disorders that may be primary, e.g., congenital central hypoventilation syndrome (CCHS), or secondary, e.g., due to brainstem abnormalities in Arnold-Chiari malformation. CCHS is a rare, lifelong condition of primary hypoventilation that was first described systematically in 1970 by Mellins et al. In 2003, it was discovered that mutations in the PHOX2B gene on chromosome 4p12 were responsible for this syndrome. This gene also plays a role in neural crest cell migration, and many patients present with symptoms of autonomic dysfunction in addition to symptoms of hypoventilation. The spectrum of hypoventilation is varied, and although most patients present in the neonatal period, late-onset cases have been reported. The exact incidence is unknown, but a prevalence rate of 1 in 200,000 live births has been reported in France. Although, the absolute number of children with CCHS is not large, care of these patients requires significant resources including skilled caregivers and sophisticated equipment. However, the outcome for these children is generally good provided appropriate ventilatory support and monitoring are used.

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Authors and Affiliations

  1. Department of Respiratory Medicine, Children’s University Hospital, Temple Street, Dublin, Ireland

    Carole L. Marcus M.B.B.Ch.

  2. Sleep Center, Children’s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA

    Fiona Healy M.B.B.Ch.

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  1. Fiona Healy M.B.B.Ch.
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  2. Carole L. Marcus M.B.B.Ch.
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Correspondence to Fiona Healy M.B.B.Ch. .

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Editors and Affiliations

  1. Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University School of Medicine, BALTIMORE, Maryland, USA

    Laura M. Sterni

  2. Division of Pediatric Pulmonary and Sleep Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

    John L. Carroll

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Healy, F., Marcus, C.L. (2016). Care of the Child with Congenital Central Hypoventilation Syndrome. In: Sterni, L., Carroll, J. (eds) Caring for the Ventilator Dependent Child. Respiratory Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-3749-3_17

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