scholarly journals Development of the Autonomic Nervous System: Clinical Implications

2020 ◽  
Vol 40 (05) ◽  
pp. 473-484
Author(s):  
Frances Lefcort
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Developmental Disorders ◽  
Molecular Mechanisms ◽  
Hirschsprung Disease ◽  
Familial Dysautonomia ◽  
Clinical Implications ◽  
Autonomic Nervous ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

AbstractInvestigations of the cellular and molecular mechanisms that mediate the development of the autonomic nervous system have identified critical genes and signaling pathways that, when disrupted, cause disorders of the autonomic nervous system. This review summarizes our current understanding of how the autonomic nervous system emerges from the organized spatial and temporal patterning of precursor cell migration, proliferation, communication, and differentiation, and discusses potential clinical implications for developmental disorders of the autonomic nervous system, including familial dysautonomia, Hirschsprung disease, Rett syndrome, and congenital central hypoventilation syndrome.

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation

2010 ◽  
Vol 108 (4) ◽  
pp. 979-988 ◽  
Author(s):  
Michael S. Carroll ◽  
Pallavi P. Patwari ◽  
Debra E. Weese-Mayer
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Respiratory Control ◽  
Rapid Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction ◽  
Autonomic Nervous ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Respiratory and autonomic disorders of infancy, childhood, and adulthood are a group of disorders that have varying presentation, combined with a range of severity of respiratory control and autonomic nervous system dysfunction. Within this group, congenital central hypoventilation syndrome and rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, exhibit the greatest respiratory control deficits, requiring supported ventilation as a mainstay of care. The discovery of the key role of the paired-like homeobox 2B gene in autonomic nervous system development, along with the identification of paired-like homeobox 2B gene mutations causing congenital central hypoventilation syndrome, has led to a fruitful dialog between basic scientists and physician-scientists, producing an explosion of knowledge regarding genotype-phenotype correlations in this disorder, as well as important animal models of chemosensory regulation deficit. Though the etiology of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation is still to be determined, recent studies have begun to carefully delineate the phenotype, suggesting that it too may provide fertile ground for research that both advances our knowledge and improves patient care.

scholarly journals Case report: Perioperative management of a patient with familial dysautonomia

2021 ◽  
Vol 6 (2) ◽  
pp. 029-032
Author(s):  
Sarebanha Melodie ◽  
Valente Laura ◽  
Kalra Minnea ◽  
Joseph Layon A ◽  
Crimi Ettore
Keyword(s):  
Intensive Care Unit ◽  
Nervous System ◽  
Autonomic Nervous System ◽  
Crisis Management ◽  
Autosomal Recessive ◽  
Perioperative Management ◽  
Hemodynamic Instability ◽  
Familial Dysautonomia ◽  
Autonomic Nervous ◽  
Noxious Stimuli

Familial dysautonomia is a rare autosomal recessive neurodegenerative disease affecting cells of the autonomic nervous system. Patients with this disease are insensitive to pain but their autonomic nervous system is still activated with noxious stimuli. This report details a case of a patient with familial dysautonomia who underwent right ankle open reduction and internal fixation for a bimalleolar right ankle fracture. The patients preoperative and intraoperative course were uneventful but shortly after handoff to the intensive care unit, the patient experienced an autonomic crisis. Management of these patients is complex, requiring maintenance of physiologic homeostasis as well as preventing hemodynamic instability caused by noxious stimuli. Any deviations from baseline may cause an autonomic crisis, as happened in our patient. Herein, we detail the perioperative management of a patient with familial dysautonomia in further detail.

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