SynthesisClinical autonomic research : official journal of the Clinical Autonomic Research Society2023
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.
Synthesis in Clinical autonomic research : official journal of the Clinical Autonomic Research Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
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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.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.Molecular medicine (Cambridge, Mass.) · 2026Article
- Diaphragmatic pacing after cervical spinal cord injury due to gunshot wound: a 14-year institutional experience.Acta neurochirurgica · 2025Article
- Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype.Pediatric research · 2024Article
- Revolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches.Pediatric research · 2024Article
- Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.Molecular genetics & genomic medicine · 2023Review
- Multidisciplinary approach to congenital central hypoventilation syndrome during pregnancy: case report.AJOG global reports · 2023Article
- Congenital Central Hypoventilation Syndrome in Israel-Novel Findings from a New National Center.Journal of clinical medicine · 2023Article
- Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.Clinical medicine insights. Pediatrics · 2023Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWith contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic.
methodsWe performed a systematic review of literature on diagnostics, pathophysiology, and clinical management in CCHS and LO-CCHS, and supplemented the review with anecdotal but extensive experiences from large academic pediatric centers with expertise in CCHS.
resultsWe summarized our findings topically for an overview of the medical care in CCHS and LO-CCHS specifically applicable to adolescents and adults. Care topics include genetic and embryologic basis of the disease, clinical presentation, management, variability in autonomic nervous system dysfunction, and clarity regarding transitional care with unique considerations such as living independently, family planning, exposure to anesthesia, and alcohol and drug use.
conclusionsWhile a lack of experience and evidence exists in the care of adults with CCHS and LO-CCHS, a review of the relevant literature and expert consensus provides guidance for transitional care areas.
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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.