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Anatomy of the Respiratory Neural Network
Published in Susmita Chowdhuri, M Safwan Badr, James A Rowley, Control of Breathing during Sleep, 2022
Christopher A Del Negro, Christopher G Wilson
This chapter is dedicated to anatomical properties of the respiratory neural networks. Here, in the section on preBötC, we have delved deeper than in previous (and following) sections into cellular constituents, their functions, and their molecular genetic origins. Why such detail? It is foremost because the preBötC is so important: it gives rise to the only inexorable and indispensable respiratory rhythm, i.e., inspiration. Another reason is because so much is known about constituent preBötC interneurons therefore it is possible to provide those levels of detail. Given its preeminent respiratory role and depth of knowledge, we hope these hard-won details can be leveraged by clinicians to develop prophylaxis or treatments for respiratory disorders, including treatments for opioid-induced respiratory depression (78, 92), congenital central hypoventilation syndrome (CCHS), Apnea of Prematurity in newborns, and sudden infant death syndrome (SIDS). For these kinds of disorders, agents that reduce tonic inhibition of the preBötC (such as caffeine) or low-level enhancement of excitatory inputs to the preBötC—including new drugs such as ampakines (121–124)—may prove effective and sufficiently selective to treat patients who are not responsive to caffeine. This objective is eminently feasible because the preBötC has been well characterized in humans (125) (Figure 1.5).
Congenital Central Hypoventilation Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder of respiratory and autonomic regulation that typically affects newborns (classic CCHS) and occasionally toddlers, children, and adults (a milder later-onset CCHS [LO-CCHS]).
Nonobstructive Sleep Patterns in Children
Published in Mark A. Richardson, Norman R. Friedman, Clinician’s Guide to Pediatric Sleep Disorders, 2016
Congenital central hypoventilation syndrome (CCHS) is an extremely rare entity in which affected children show severe hypoventilation, particularly during sleep, in the absence of any identifiable neurologic, pulmonary, or cardiac disease process (13,14). Only about 300 cases in the U.S. have been diagnosed but this may be an underestimate. Despite the small numbers, this small cohort of children has provided the opportunity to make great inroads into the understanding of the body’s respiratory control pathways. Children with CCHS lack the normal ventilatory response to hypercarbia and hypoxia. During sleep these children can develop severe hypercarbia and hypoxemia. In the wake state, they continue to have absent hypercarbic and hypoxic responses and have a blunted sensation of dyspnea. However, they do maintain conscious control of breathing. Therefore, it is during sleep that children with CCHS are most at risk.
Congenital central hypoventilation syndrome: diagnosis and management
Published in Expert Review of Respiratory Medicine, 2018
Melissa A. Maloney, Sheila S. Kun, Thomas G. Keens, Iris A. Perez
Congenital central hypoventilation syndrome (CCHS) is characterized by loss of normal ventilatory control leading to alveolar hypoventilation that is most severe during sleep. CCHS patients require lifelong ventilatory support via positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, or diaphragm pacing. Severity ranges from around-the-clock ventilator dependence to need for ventilatory support only during sleep.Patients with CCHS do not demonstrate normal physiologic response to hypercapnia or hypoxia. They do not increase their respiratory rate or tidal volume, experience discomfort, or display outward signs of respiratory distress. Lack of these normal mechanisms necessitates the need for objective monitoring in the home and during times of stress.The paired-like homeobox (PHOX2B) gene is the disease-defining gene in CCHS. Identification of each patient’s specific PHOX2B gene mutation helps prognosticate disease severity and probability of various manifestations of autonomic dysfunction.CCHS patients are at risk for life-threatening arrhythmias and some will require cardiac pacemakers. Certain genotypes are at risk for Hirschsprung disease and tumors of neural crest cell origin.CCHS patients, particularly those with more severe phenotype, have demonstrated significant neurocognitive impairment. Early recognition and intervention is important in improving developmental outcome and school performance.
Section 11: Central hypoventilation, congenital and acquired
Published in Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 2018
Theo J. Moraes, Ian MacLusky, David Zielinski, Reshma Amin
Central hypoventilation can arise either as a primary disorder of the central respiratory nuclei (either genetic or acquired) or as an adaptive phenomena due to chronic respiratory or respiratory motor insufficiency (as in end-stage chronic lung disease or neuromotor disease). The latter will be discussed in the relevant sections. This section deals with congenital central hypoventilation syndrome (CCHS). For a more detailed overall review of CCHS, the reader is referred to a recent American Thoracic Society (ATS) Statement on CCHS.1