ReviewOrphanet journal of rare diseases2020
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 142 citations in OpenAlex.
- Paediatric Long-Term Home Respiratory Support: Recommendations of the Swiss Society of Paediatric Pulmonology.Respiration; international review of thoracic diseases · 2026Guideline
- 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
- Early Findings on the Effectiveness of Novel Awakening Stimuli for Patients with Congenital Central Hypoventilation Syndrome.Sensors (Basel, Switzerland) · 2025Trial
- Redefining PHOX2B-Related Neurodevelopmental Disorders as Circuitopathies: A New Paradigm in Autonomic Network Medicine.Neuroscience bulletin · 2026Review
- Article
- Regulation of PHOX2B gene expression by the long non-coding natural antisense RNA PHOX2B-AS1.The FEBS journal · 2026Article
- PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.Molecular medicine (Cambridge, Mass.) · 2026Article
- International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.Pediatric pulmonology · 2026Article
- Article
- Microbiota-Metabolome Alterations Suggest Pro-Inflammatory Phenotype in Congenital Central Hypoventilation Syndrome.International journal of microbiology · 2026Article
- CRISPR/Cas9-mediatedFrontiers in physiology · 2026Article
- Article
- Long-term follow-up of autologous nasal epithelial stem cell transplantation for congenital olfactory disorders in children.World journal of stem cells · 2025Article
- Respiratory events and sleep structure of children suffering from congenital central hypoventilation syndrome under assisted ventilation: a cross-sectional descriptive study.Sleep & breathing = Schlaf & Atmung · 2025Article
- Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2025Article
- Alpha-1 antitrypsin deficiency and risk of sleep apnea: a nationwide cohort study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities.Plastic and reconstructive surgery. Global open · 2025Article
- Swedish national cohort of children living with long-term respiratory support (DISCOVERY-P): cohort profile.BMJ open · 2025Article
- Reliability of Composite Autonomic Symptom Score (COMPASS)-31 in Congenital Central Hypoventilation Syndrome.Pediatric pulmonology · 2025Article
- Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden.Pediatric pulmonology · 2025Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 12 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
conclusionAwareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.