PMID: 11343310May 9, 2001Paper

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome

American Journal of Medical Genetics
D E Weese-MayerM L Marazita

Abstract

Children with idiopathic congenital central hypoventilation syndrome (CCHS) have a complex phenotype consistent with an imbalance of the autonomic nervous system (ANS). Since CCHS may be genetic in origin, we hypothesized that relatives of individuals with CCHS may exhibit symptoms of ANS dysfunction (ANSD), albeit in a milder form. We tested this hypothesis by assessing aspects of ANS function in relatives of CCHS cases vs. relatives of matched controls with a scripted questionnaire. Only those 35 symptoms of ANSD exhibited by > or =5% of the CCHS cases were included in the analysis as the basis for determining ANSD affection status. Two different arbitrary ANSD affection status definitions are presented in detail: any case, control, or relative with positive findings (1) in two or more symptoms, or (2) in two or more systems. The subjects included in the analysis totaled 2,353, including 56 CCHS cases, 56 age-, gender-, and race-matched controls, and their families. Under each of the two arbitrary ANSD affection statuses, CCHS cases and parents of cases were more likely to be affected than controls and parents of controls (P < 0.001 for both comparisons), 16% of the CCHS siblings had the ANSD phenotype with two or more sympto...Continue Reading

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Citations

Feb 13, 2002·American Journal of Medical Genetics·Debra E Weese-MayerAravinda Chakravarti
Nov 26, 2003·Respiratory Physiology & Neurobiology·Paul M MaceyRonald M Harper
Jul 11, 2003·Respiratory Physiology & Neurobiology·Claude GaultierJorge Gallego
Oct 4, 2011·Cerebral Cortex·Paul M MaceyRonald M Harper
Apr 23, 2004·Archives of Disease in Childhood·S Levene, C J Bacon
May 24, 2008·Journal of Applied Physiology·Jingtao HuangCarole L Marcus
Apr 24, 2004·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-Mayer, Elizabeth M Berry-Kravis
Aug 4, 2007·American Journal of Respiratory and Critical Care Medicine·Federico LavoriniJohn Widdicombe
Mar 9, 2010·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-MayerUNKNOWN ATS Congenital Central Hypoventilation Syndrome Subcommittee
Aug 3, 2002·American Journal of Respiratory and Critical Care Medicine·Suchada SritippayawanThomas G Keens
May 20, 2005·Pediatric Research·Claude GaultierJorge Gallego
Mar 8, 2013·Seminars in Pediatric Neurology·Casey M RandDebra E Weese-Mayer
Jun 15, 2007·Chest·Kenneth R CaseyLee K Brown
Jul 6, 2010·Respiratory Physiology & Neurobiology·Pallavi P PatwariDebra E Weese-Mayer
May 22, 2010·Clinics in Chest Medicine·Lee K Brown
Dec 1, 2008·Sleep Medicine Clinics·Hiren Muzumdar, Raanan Arens
Aug 5, 2008·Respiratory Physiology & Neurobiology·Jorge Gallego, Stéphane Dauger
Dec 20, 2005·Pacing and Clinical Electrophysiology : PACE·Mohammad-Reza MovahedNafiz Kiciman
Jul 24, 2012·American Journal of Medical Genetics. Part a·Casey M RandDebra E Weese-Mayer
Aug 11, 2011·Pediatric Pulmonology·Lawrence J JenningsDebra E Weese-Mayer
Jul 28, 2004·Paediatric Respiratory Reviews·Maida Lynn Chen, Thomas G Keens
Aug 2, 2005·Respiratory Physiology & Neurobiology·Debra E Weese-MayerMary L Marazita
Jun 28, 2002·The Tohoku Journal of Experimental Medicine·Masayo KanaiKiyoshi Hayasaka
Nov 5, 2013·Revue des maladies respiratoires·D E Weese-MayerUNKNOWN sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society
Nov 19, 2005·Expert Review of Medical Devices·Maida Lynn ChenThomas G Keens
Aug 6, 2017·Journal of Medical Genetics·Malte SpielmannStefan Mundlos
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Jul 17, 2008·The Journal of Clinical Endocrinology and Metabolism·Pierre BougnèresCatherine Le Stunff
Jan 30, 2010·Journal of Applied Physiology·Michael S CarrollDebra E Weese-Mayer
Jun 14, 2020·Pediatric Pulmonology·Lael M YonkerT Bernard Kinane
Jan 13, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Danya A FoxLaura L Stewart
May 21, 2005·The Journal of Comparative Neurology·Rajesh KumarRonald M Harper

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