ArticleJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine2010
Joubert syndrome associated with severe central sleep apnea.
Article in Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Article
- Polysomnography analysis of sleep in a cohort of children treated for brain tumour.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- Good outcome of tracheostomy in a COVID-19 child with Joubert syndrome-Case report.Clinical case reports · 2023Article
- NovelOpen life sciences · 2023Article
- Functional connectivity of the human hypothalamus during wakefulness and nonrapid eye movement sleep.Human brain mapping · 2021Article
- Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020Article
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- Sleep Disorders in Hereditary Ataxias.Current neurology and neuroscience reports · 2019Review
- Sleep in Children with Congenital Malformations of the Central Nervous System.Current neurology and neuroscience reports · 2018Review
- Article
- Sleep disordered breathing at the extremes of age: infancy.Breathe (Sheffield, England) · 2016Review
- Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.BMJ case reports · 2016Article
- Central sleep apnea and complex sleep apnea in patients with epilepsy.Sleep & breathing = Schlaf & Atmung · 2014Article
- Sleep-disordered breathing: effects on brain structure and function.Respiratory physiology & neurobiology · 2013Review
- Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.Therapeutic advances in respiratory diseaseReview
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a patient with mental retardation and chronic hypercapnic respiratory failure who was found to have severe central apnea and periodic breathing while undergoing an evaluation of low oxygen saturation during wakefulness at rest. Magnetic resonance imaging of the brain, which was performed to uncover potential causes for the central sleep apnea, revealed a "molar tooth sign" consistent with the diagnosis of Joubert syndrome. Joubert syndrome-related disorders are autosomal-recessive disorders characterized by diffuse hypotonia, developmental delay, abnormal respiratory patterns, and the pathognomonic neuroradiologic finding of a molar tooth sign. Adaptive servoventilation failed to correct the central apneas or the periodic breathing. Treatment with bilevel positive airway pressure in S/T mode led to resolution of the central events, improvement in sleep quality, and normalization of the oxygen saturation during wakefulness.
Indexed as
Identifiers
20726289PMC2919671W1444847545What OpenQuestion holds
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 OpenQuestion graph.