ArticleSleep & breathing = Schlaf & Atmung2011
Congenital central hypoventilation syndrome: four families.
Article in Sleep & breathing = Schlaf & Atmung, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Pooled it
- Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.Translational pediatrics · 2021Article
- Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020Article
- Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Orphanet journal of rare diseases · 2020Review
- Three-Generation Family With Congenital Central Hypoventilation Syndrome and NovelJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2017Article
- Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.Sleep & breathing = Schlaf & Atmung · 2015Article
- Proceedings of the fourth international conference on central hypoventilation.Orphanet journal of rare diseases · 2014Review
- Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist.Frontiers in neurology · 2014Review
- Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene.Sleep & breathing = Schlaf & Atmung · 2013Article
- Polysomnographic findings in Rett syndrome: a case-control study.Sleep & breathing = Schlaf & Atmung · 2013Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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.
methodsWe present four families, three with autosomal dominant inheritance and familial clustering, and one with a de novo mutation resulting in CCHS.
conclusionsWe 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.
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