ReviewPediatric research2017
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
Review in Pediatric research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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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
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Who cites it
36 citing papers in PubMed, 68 citations in OpenAlex.
- Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.Acta physiologica (Oxford, England) · 2026Article
- International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant.Pediatric pulmonology · 2026Article
- Sympathetic Chain Ganglia in the Female Pig During Prenatal Development: Noradrenergic and Cholinergic Neurons.Current issues in molecular biology · 2026Article
- CRISPR/Cas9-mediatedFrontiers in physiology · 2026Article
- Recognition of a Critical Functional Domain and ImprovedHuman mutation · 2026Article
- Neuroanatomical and neurochemical organization of brainstem and forebrain circuits involved in breathing regulation.Journal of neurophysiology · 2025Review
- Congenital Central Hypoventilation Syndrome (CCHS): Patient Quality of Life and Caregiver Burden.Pediatric pulmonology · 2025Article
- Article
- Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models.Nature communications · 2023Article
- Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.Molecular genetics & genomic medicine · 2023Review
- Temporal Expression of Hox Genes and Phox2b in the Rat Nucleus Ambiguus During Development: Implications on Laryngeal Innervation.The Laryngoscope · 2023Article
- Home mechanical ventilation in children with chronic respiratory failure: a narrative review.Journal of Yeungnam medical science · 2023Article
- Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome.Frontiers in endocrinology · 2023Article
- Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox®.Pediatric pulmonology · 2022Article
- Significance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients.Antioxidants (Basel, Switzerland) · 2022Article
- A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review.AJP reports · 2022Article
- Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up.Antioxidants (Basel, Switzerland) · 2022Article
- Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.International journal of molecular sciences · 2022Article
- Transcription factors regulating the specification of brainstem respiratory neurons.Frontiers in molecular neuroscience · 2022Review
- Case Report: A novelFrontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The "bedside-to-bench" Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS) regulation, and improved clinical outcomes. CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort report (1992), delineating clinical presentation and treatment options. A central role of ANS dysregulation (2001) emerged, precipitating evaluation of genes critical to ANS development, and subsequent 2003 identification of Paired-Like Homeobox 2B (PHOX2B) as the disease-defining gene for CCHS. This breakthrough engendered clinical genetic testing, making diagnosis exact and early tracheostomy/artificial ventilation feasible. PHOX2B genotype-CCHS phenotype relationships were elucidated, informing early recognition and timely treatment for phenotypic manifestations including Hirschsprung disease, prolonged sinus pauses, and neural crest tumors. Simultaneously, cellular models of CCHS-causing PHOX2B mutations were developed to delineate molecular mechanisms. In addition to new insights regarding genetics and neurobiology of autonomic control overall, new knowledge gained has enabled physicians to anticipate and delineate the full clinical CCHS phenotype and initiate timely effective management. In summary, from an initial guarantee of early mortality or severe neurologic morbidity in survivors, CCHS children can now be diagnosed early and managed effectively, achieving dramatically improved quality of life as adults.
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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 OpenQuestion graph.