Paeds · respiratory-sleep-and-airway
Central sleep apnoea and hypoventilation syndromes
Also known as Central sleep apnoea · Central sleep apnea · Congenital central hypoventilation syndrome · CCHS · Ondine's curse · ROHHAD · ROHHAD-NET · Central alveolar hypoventilation · Sleep-related hypoventilation · Disorders of control of breathing
Fellowship guide to central sleep apnoea and hypoventilation syndromes in children: the disorders in which the brain fails to generate an adequate breathing signal, so airflow and effort fall together (central apnoea) or tidal volume is chronically inadequate (hypoventilation), worst during sleep. The page covers congenital central hypoventilation syndrome and its PHOX2B genetic basis, ROHHAD and ROHHAD-NET, the acquired central apnoeas of Chiari malformation, brainstem lesions and prematurity, the polysomnography and capnography that define the pattern, and the lifelong ventilatory support from mask non-invasive ventilation through tracheostomy to diaphragm pacing that keeps these children alive.
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- A neonate or infant with recurrent apnoea, cyanosis or failure to wean from ventilation who has a structurally normal heart and lungs and worsens during quiet sleep has a central control-of-breathing disorder until proven otherwise — measure carbon dioxide in sleep and send PHOX2B testing
- A child who does not appear breathless despite a dangerously high carbon dioxide and low oxygen has absent chemoreceptor drive — the lack of distress is the danger sign, not reassurance, because these children do not compensate
- Supplemental oxygen alone in central hypoventilation can mask desaturation while carbon dioxide climbs to narcosis — oxygen without assisted ventilation is a trap; ventilate, do not simply oxygenate
- Rapid-onset obesity after age two with hypoventilation, hypothalamic dysfunction and autonomic instability is ROHHAD until excluded — search for an occult neural crest tumour (ROHHAD-NET) with cross-sectional imaging
- Unexplained cor pulmonale, pulmonary hypertension or polycythaemia in a child can be the first presentation of chronic nocturnal hypoventilation — the sleeping breathing pattern must be studied
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- Control of breathing and its disorders
- Sleep-disordered breathing in children
- Apnoea in the neonate and infant
- Congenital central hypoventilation syndrome
- ROHHAD and neural crest tumours
- Long-term ventilation in children
- Central sleep apnoea and hypoventilation
- The child who fails to wean from ventilation
- Chronic respiratory failure of central origin
- Long case: the technology-dependent child on home ventilation
- Short case: the child with a tracheostomy and ventilator
- Respiratory and sleep medicine: control of breathing
- Sleep-disordered breathing
- Central hypoventilation and PHOX2B
- Sleep-related breathing disorders
- Assessment of the child on long-term ventilation
- Apnea of prematurity
- Patient Care: chronic respiratory failure and control of breathing
- Medical Expert: central hypoventilation syndromes
Overview & Definition
Picture a child who breathes normally while awake, chatting and playing, then falls asleep and simply stops making the effort to breathe. This is the paradox at the heart of central sleep apnoea and hypoventilation: the lungs and airway are competent, but the brainstem fails to send an adequate signal to breathe, and the failure is unmasked by sleep when behavioural and wakefulness drive are withdrawn. Central sleep apnoea is a pause in which airflow and respiratory effort stop together, with no paradoxical chest and abdominal movement, because there is no drive to breathe rather than an obstruction to overcome. [3] [1]
Central hypoventilation is the chronic cousin of central apnoea: rather than discrete pauses, the child breathes continuously but with inadequate tidal volume, so carbon dioxide climbs and oxygen falls, most severely during sleep. The defining laboratory finding is a raised carbon dioxide during sleep, which is why capnography or transcutaneous carbon dioxide monitoring, not oxygen saturation alone, is the measurement that makes the diagnosis. Because these children lack the chemoreceptor drive that would make a healthy person gasp, they often do not look distressed even as their gases become dangerous. [1] [3]
What makes these conditions dangerous is precisely the absence of the warning that protects the rest of us. The healthy response to a rising carbon dioxide is air hunger and increased ventilation; in central hypoventilation that reflex is blunted or absent, so the child sleeps peacefully into hypercapnia and hypoxaemia. The discipline that saves these children is to measure carbon dioxide in sleep in any child with unexplained cyanosis, cor pulmonale, polycythaemia, failure to wean from ventilation, or apnoea that is worse in quiet sleep, and never to be reassured by a child who is not visibly struggling. [1] [4]
References15ShowHide
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- [2]Ceccherini I; Kurek KC; Weese-Mayer DE Developmental disorders affecting the respiratory system: CCHS and ROHHAD. Handb Clin Neurol, 2022.PMID 36031316
- [3]Kasi AS; Perez IA Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation. Clin Chest Med, 2024.PMID 39069329
- [4]Fain ME; Westbrook AL; Kasi AS Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes. Clin Med Insights Pediatr, 2023.PMID 37256017
- [5]Kasi AS; Li H; Harford KL; et al Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach. J Multidiscip Healthc, 2022.PMID 35360554
- [6]Harvengt J; Gernay C; Mastouri M; et al ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. J Clin Endocrinol Metab, 2020.PMID 32407531
- [7]Marpuri I; Ra E; Naguib MN; et al Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report. J Pediatr Endocrinol Metab, 2022.PMID 34954931
- [8]Tsolakis N; Sindelar R; Markström A; et al Applying diaphragm pacing in previously tracheostomised children with congenital central hypoventilation syndrome is a safe tool. Acta Paediatr, 2022.PMID 35266201
- [9]Dozor AJ; Vincent R Assessment of Phrenic Nerve Pacers in a Patient With Congenital Central Hypoventilation Syndrome. Pediatr Pulmonol, 2025.PMID 39688338
- [10]Berry RB; Ryals S; Wagner MH Use of Chest Wall EMG to Classify Hypopneas as Obstructive or Central. J Clin Sleep Med, 2018.PMID 29734977
- [11]Okai BK; Jaikumar V; Francois HB; et al Posterior fossa decompression in patients with Chiari malformation type 1: effect on sleep apnea and follow-up outcomes. Childs Nerv Syst, 2024.PMID 39365303
- [12]Marques KA; Bruschettini M; Roehr CC; et al Methylxanthine for the prevention and treatment of apnea in preterm infants. Cochrane Database Syst Rev, 2023.PMID 37905735
- [13]Basu SM; Chung FF; AbdelHakim SF; et al Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature. Anesth Analg, 2017.PMID 27918326
- [14]Puri S; Yaddanapudi S; Menon P Peri-operative management of a child with ROHHAD-NET syndrome undergoing neural crest tumour excision. Anaesth Rep, 2022.PMID 35756834
- [15]Slattery SM; Wilkinson J; Mittal A; et al Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype. Pediatr Res, 2024.PMID 38238566