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Journal ArticleDOI

Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.

01 Nov 1970-Medicine (Medicine (Baltimore))-Vol. 49, Iss: 6, pp 487-504
About: This article is published in Medicine.The article was published on 1970-11-01. It has received 342 citations till now. The article focuses on the topics: Congenital central hypoventilation syndrome.
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Journal ArticleDOI
TL;DR: The phenomena of panic during relaxation and sleep, late luteal phase dysphoric disorder, pregnancy, childbirth, pulmonary disease, separation anxiety, and treatment are used to test and illuminate the suffocation false alarm theory.
Abstract: • A carbon dioxide hypersensitivity theory of panic has been posited. We hypothesize more broadly that a physiologic misinterpretation by a suffocation monitor misfires an evolved suffocation alarm system. This produces sudden respiratory distress followed swiftly by a brief hyperventilation, panic, and the urge to flee. Carbon dioxide hypersensitivity is seen as due to the deranged suffocation alarm monitor. If other indicators of potential suffocation provoke panic, this theoretical extension is supported. We broadly pursue this theory by examining Ondine's curse as the physiologic and pharmacologic converse of panic disorder, splitting panic in terms of symptomatology and challenge studies, reevaluating the role of hyperventilation, and reinterpreting the contagiousness of sighing and yawning, as well as mass hysteria. Further, the phenomena of panic during relaxation and sleep, late luteal phase dysphoric disorder, pregnancy, childbirth, pulmonary disease, separation anxiety, and treatment are used to test and illuminate the suffocation false alarm theory.

1,049 citations

Journal ArticleDOI
TL;DR: Individual variability in several phenotypic characteristics may ultimately determine who develops apnea and how severe the apnea will be and patients may respond to different therapeutic approaches based on the predominant abnormality leading to the sleep-disordered breathing.
Abstract: Considerable progress has been made over the last several decades in our understanding of the pathophysiology of both central and obstructive sleep apnea. Central sleep apnea, in its various forms, is generally the product of an unstable ventilatory control system (high loop gain) with increased controller gain (high hypercapnic responsiveness) generally being the cause. High plant gain can contribute under certain circumstances (hypercapnic patients). On the other hand, obstructive sleep apnea can develop as the result of a variety of physiologic characteristics. The combinations of these may vary considerably between patients. Most obstructive apnea patients have an anatomically small upper airway with augmented pharyngeal dilator muscle activation maintaining airway patency awake, but not asleep. However, individual variability in several phenotypic characteristics may ultimately determine who develops apnea and how severe the apnea will be. These include: (1) upper airway anatomy, (2) the ability of u...

592 citations


Cites background from "Failure of automatic control of ven..."

  • ...This is likely a product of the high plant gain in such patients (Figure 5A) or an absence of ventilatory drive during sleep when respiration is largely dependent on these chemical control mechanisms (63, 64)....

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Journal ArticleDOI
TL;DR: Advances in diagnosis and management can alleviate much of the morbidity previously associated with sleep-related respiratory disorders, including obstructive sleep apnea syndrome.
Abstract: Sleep-disordered breathing, particularly the obstructive sleep apnea syndrome, is common during childhood. Complications include neurocognitive deficits, growth failure, and pulmonary hypertension. Nevertheless, sleep-disordered breathing is often unrecognized in children. New syndromes, such as the upper airway resistance syndrome, have recently been described. Polysomnography is invaluable for the evaluation of sleep-disordered breathing. Advances in diagnosis and management can alleviate much of the morbidity previously associated with sleep-related respiratory disorders.

590 citations

Journal ArticleDOI
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
Abstract: Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation.Purpose: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for diagnosis and treatment of patients with CCHS.Methods: Committee members were invited on the basis of their expertise in CCHS and asked to review the current state of the science by independently completing literature searches. Consensus on recommendations was reached by agreement among members of the Committee.Results: A review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHS and expert interpretation of the evidence for management of affected patients.Conclusions: A PHOX2B mutation is required to confirm the diagnosis of CCHS. Knowled...

401 citations

Journal ArticleDOI
TL;DR: The working hypothesis is that increased brain-derived neurotrophic factor enhances glutamatergic synaptic currents in phrenic motoneurons, increasing their responsiveness to bulbospinal inspiratory inputs and reflecting a general mechanism whereby intermittent serotonin receptor activation elicits respiratory plasticity, adapting system performance to the ever-changing requirements of life.
Abstract: Intermittent hypoxia elicits long-term facilitation (LTF), a persistent augmentation (hours) of respiratory motor output. Considerable recent progress has been made toward an understanding of the mechanisms and manifestations of this potentially important model of respiratory plasticity. LTF is elicited by intermittent but not sustained hypoxia, indicating profound pattern sensitivity in its underlying mechanism. During intermittent hypoxia, episodic spinal serotonin receptor activation initiates cell signaling events, increasing spinal protein synthesis. One associated protein is brain-derived neurotrophic factor, a neurotrophin implicated in several forms of synaptic plasticity. Our working hypothesis is that increased brain-derived neurotrophic factor enhances glutamatergic synaptic currents in phrenic motoneurons, increasing their responsiveness to bulbospinal inspiratory inputs. LTF is heterogeneous among respiratory outputs, differs among experimental preparations, and is influenced by age, gender, and genetics. Furthermore, LTF is enhanced following chronic intermittent hypoxia, indicating a degree of metaplasticity. Although the physiological relevance of LTF remains unclear, it may reflect a general mechanism whereby intermittent serotonin receptor activation elicits respiratory plasticity, adapting system performance to the ever-changing requirements of life.

372 citations

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