Fog-induced cough with impaired respiratory sensation in congenital central hypoventilation syndrome

American Journal of Respiratory and Critical Care Medicine

Volumn 176, Issue 8, 2007, Pages 825-832

  Lavorini, Federico ^a   Fontana, Giovanni A ^a   Pantaleo, Tito ^a   Geri, Pietro ^a   Piumelli, Raffaele ^a   Pistolesi, Massimo ^a   Widdicombe, John ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Central nervous system; Control of breathing; Cough; Respiratory sensations

Indexed keywords

ADOLESCENT; ARTICLE; BREATHING; CLINICAL ARTICLE; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONTROLLED STUDY; COUGHING; ELECTROMYOGRAPHY; FEMALE; FOG; GENETIC DISORDER; HUMAN; INHALATION; MALE; PEAK EXPIRATORY FLOW; PRIORITY JOURNAL; RESPIRATORY SENSATION IMPAIRMENT; SCHOOL CHILD; SENSORY DYSFUNCTION;

ABDOMINAL MUSCLES; ADOLESCENT; CASE-CONTROL STUDIES; CHILD; COUGH; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; PEAK EXPIRATORY FLOW RATE; RESPIRATORY PHYSIOLOGY; SENSATION; SENSORY THRESHOLDS; SLEEP APNEA, CENTRAL; WORK OF BREATHING;

EID: 35349012965     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200612-1870OC     Document Type: Article

References (47)

1. American Thoracic Society. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med 1999;160:368-373.
2. O'Brien LM, Holbrook CR, Vanderlaan M, Amiel J, Gozal D. Autonomic function in children with congenital central hypoventilation syndrome and their families. Chest 2005;4:2478-2484.
3. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet 2004;4:373-380.
4. Khalifa MM, Flavin MA, Wherrett BA. Congenital central hypoventilation syndrome in monozygotic twins. J Pediatr 1988;113:853-855.
5. Hamilton J, Bodurtha JN. Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. J Med Genet 1989;26:272-274.
6. Weese-Mayer DE, Silvestri JM, Menzies V, Morrow-Kenny AS, Hunt CE, Hauptman SA. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr 1992;120:381-387.
7. Minutillo C, Pemberton PJ, Goldblatt J. Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome. Clin Genet 1989;36:200-203.
8. Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E. Ondine-Hirschsprung syndrome (Haddad syndrome): further delineation in two cases and review of the literature. Eur J Pediatr 1993;152:75-77.
9. Sritippayawan S, Margetis MF, MacLaughlin EF, Achermann R, Wells WJ, Davidson Ward SL. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med 2002;166:367-369.
10. Silvestri JM, Chen ML, Weese-Mayer DE, McQuitty JM, Carveth HJ, Nielson DW, Borowitz D, Cerny F. Idiopathic congenital central hypoventilation syndrome: the next generation. Am J Med Genet 2002;112:46-50.
11. Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A. Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. Am J Med Genet 2002;107:306-310.
12. Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Maher BS, Cooper ME, Marazita ML. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet 2001;100:237-245.
13. Marazita ML, Maher BS, Cooper ME, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Weese-Mayer DE. Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. Am J Med Genet 2001;100:229-236.
14. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003;33:459-461.
15. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 2003;114:22-26.
16. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A 2003;123:267-278.
17. Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 2005;14:3697-3708.
18. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006;174:1139-1144.
19. Woo MS, Woo MA, Gozal D, Jansen MT, Keens TG, Harper RM. Heart rate variability in congenital central hypoventilation syndrome. Pediatr Res 1992;31:291-296.
20. 2. Respir Physiol 1993;93:203-219.
21. Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hour BP in children with congenital central hypoventilation syndrome. Chest 2003;124:1393-1399.
22. Trang H, Girard A, Laude D, Elghozi JL. Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's curse). Clin Sci 2005;108:225-230.
23. Faure C, Viarme F, Cargill G, Navarro J, Gaultier C, Trang H. Abnormal esophageal motility in children with congenital central hypoventilation syndrome. Gastroenterology 2002;122:1258-1263.
24. Shea SA, Andres LP, Paydarfar D, Banzett RB, Shannon DC. Effect of mental activity on breathing in congenital central hypoventilation syndrome. Respir Physiol 1993;94:251-263.
25. Fontana GA, Pantaleo T, Lavorini F, Benvenuti F, Gangemi S. Defective motor control of coughing in Parkinson's disease. Am J Respir Crit Care Med 1998;158:458-464.
26. Addington WR, Stephens RE, Gilliland KA. Assessing the laryngeal cough reflex and the risk of developing pneumonia after stroke. An interhospital comparison. Stroke 1999;30:1203-1207.
27. Ebihara S, Saito H, Kanda A, Nakajoh M, Takahashi H, Arai H, Sasaki H. Impaired efficacy of cough in patients with Parkinson's disease. Chest 2003;124:1009-1015.
28. Fontana GA, Pantaleo T, Lavorini F, Boddi V, Panuccio P. A non-invasive electromyographic study on threshold and intensity of cough in humans. Eur Respir J 1997;10:983-989.
29. Fontana GA, Pantaleo T, Lavorini F, Maluccio NM, Mutolo D, Pistolesi M. Repeatability of cough-related variables during fog challenges at threshold and suprathreshold stimulus intensity in humans. Eur Respir J 1999;13:1447-1450.
30. Lavorini F, Fontana GA, Pantaleo T, Camiciottoli G, Castellani W, Maluccio NM, Pistolesi M. Fog-induced respiratory responses are attenuated by nedocromil sodium in humans. Am J Respir Crit Care Med 2001;163:1117-1120.
31. Lavorini F, Fontana GA, Pantaleo T, Geri F, Widdicombe J. Respiratory reflexes in central congenital hypoventilation syndrome [abstract]. Eur Respir J 2006;28:416s.
32. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. Changes in the normal maximal expiratory flow-volume curve with growth and aging. Am Rev Respir Dis 1983;127:725-734.
33. Wagener JS, Hibbert ME. Landau LI. Maximal respiratory pressures in children. Am Rev Respir Dis 1984;129:873-875.
34. Petusevsky ML, Lyons LD, Smith AA, Epler GR, Gaensler EA. Calibration of time derivatives of forced vital capacity by explosive decompression. Am Rev Respir Dis 1980;21:343-350.
35. Phipps PR, Gonda I. Droplets produced by medical nebulizers: some factors affecting their size and solute concentration. Chest 1990;97:1327-1332.
36. Sackner MA, Watson H, Belsito AS, Feinerman D, Suarez M, Gonzalez G, Bizousky F, Krieger B. Calibration of respiratory inductive plethysmography during natural breathing. J Appl Physiol 1989;66:410-420.
37. Widdicombe J, Fontana G. Cough: what is in a name? Eur Respir J 2006;28:10-15.
38. Fontana GA, Pantaleo T, Lavorini F, Polli G, Pistolesi M. Coughing in laryngectomized patients. Am J Respir Crit Care Med 1999;160:1578-1584.
39. Widdicombe J, Singh V. Physiological and pathophysiological downregulation of cough. Respir Physiol Neurobiol 2006;150:105-117.
40. Hanacek J, Tatar M, Widdicombe J. Regulation of cough by secondary sensory inputs. Respir Physiol Neurobiol 2006;152:282-297.
41. Yanagihara N, Von Leden H, Werner-Kukuk E. The physical parameters of cough: the larynx in a normal single cough. Acta Otolaryngol 1966;61:495-510.
42. Lavorini F, Pantaleo T, Geri P, Mutolo D, Pistolesi M, Fontana GA. Cough and ventilatory adjustments evoked by aerosolised capsaicin and distilled water (fog) in man. Respir Physiol Neurobiol 2007;156:331-339.
43. Raji H, Singh VK, Anand A, Paintal AS. Sensory origin of lobeline-induced sensations: a correlative study in man and cat. J Physiol 1995;482:235-246.
44. Butler JE, Anand A, Crawford MR, Glanville AR, McKenzie DK, Paintal AS, Taylor JL, Gandevia SC. Changes in respiratory sensations induced by lobeline after human bilateral lung transplantation. J Physiol 2001;534:583-593.
45. Davenport PW, Sapienza CM, Bolser DC. Psychophysical assessment of the urge-to-cough. Eur Respir Rev 2002;12:249-253.
46. Morice AH, Higgins KS, Yeo WW. Adaptation of cough reflex with different types of stimulation. Eur Respir J 1992;5:841-847.
47. Canning BJ, Mori N, Mazzone SB. Vagal afferent nerves regulating the cough reflex. Respir Physiol Neurobiol 2006;152:223-242.