Congenital central hypoventilation syndrome in children

Paediatric Respiratory Reviews

Volumn 12, Issue 4, 2011, Pages 253-263

  Healy, F ^a   Marcus, C L ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Autonomic dysfunction; Diaphragmatic pacing; Non invasive ventilation; PHOX2B gene

Indexed keywords

CLOMIPRAMINE; DEXAMPHETAMINE; OXYGEN; THEOPHYLLINE; TRANSCRIPTION FACTOR;

ASSISTED VENTILATION; AUTONOMIC DYSFUNCTION; BILEVEL POSITIVE AIRWAY PRESSURE VENTILATION; BRAIN REGION; BREATHING; BREATHING DISORDER; CELL MIGRATION; CHEMORECEPTOR; CHILD; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; DIAPHRAGMATIC PACING; DISEASE SEVERITY; GENE FUNCTION; GENE MUTATION; HUMAN; HYPOVENTILATION; LUNG ALVEOLUS HYPOVENTILATION; MASK; NASAL MASK; NEGATIVE PRESSURE VENTILATION; NEURAL CREST CELL; NEWBORN PERIOD; ONSET AGE; PATHOPHYSIOLOGY; PATIENT MONITORING; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; QUALITY OF LIFE; RARE DISEASE; RESPIRATION CONTROL; REVIEW; SENSORY NERVE; SLEEP; SYMPTOM; TRACHEOSTOMY; WAKEFULNESS;

CHILD; HUMANS; HYPOVENTILATION; PROGNOSIS; SLEEP APNEA, CENTRAL;

EID: 80955166146     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2010.10.001     Document Type: Review

References (57)

1. Mellins R.B., Balfour H.H., Turino G.M., Winters R.W. Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature. Medicine (Baltimore). 1970, 49:487-504.
2. Amiel J., Laudier B., Attie-Bitach T., 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.
3. Weese-Mayer D.E., Berry-Kravis E.M., Zhou L., et al. 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, 123A:267-278.
4. Trochet D., de Pontual L., Straus C., et al. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med. 2008, 177:906-911.
5. Trang H., Dehan M., Beaufils F., Zaccaria I., Amiel J., Gaultier C. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest. 2005, 127:72-79.
6. Huang J., Colrain I.M., Panitch H.B., et al. Effect of sleep stage on breathing in children with central hypoventilation. J Appl Physiol. 2008, 105:44-53.
7. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society. Am J Respir Crit Care Med. 1999; 160: 368-373.
8. Khalifa M.M., Flavin M.A., Wherrett B.A. Congenital central hypoventilation syndrome in monozygotic twins. J Pediatr 1988, 113:853-855.
9. Sritippayawan S., Hamutcu R., Kun S.S., Ner Z., Ponce M., Keens T.G. Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med 2002, 166:367-369.
10. Antic N.A., Malow B.A., Lange N., et al. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med 2006, 174:923-927.
11. Stornetta R.L., Moreira T.S., Takakura A.C., et al. Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat. J Neurosci. 2006, 26:10305-10314.
12. Matera I., Bachetti T., Puppo F., 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, 41:373-380.
13. Repetto G.M., Corrales R.J., Abara S.G., et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009, 98:192-195.
14. Weese-Mayer D.E., Berry-Kravis E.M., Zhou L. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005, 171:88.
15. Weese-Mayer D.E., Berry-Kravis E.M., Ceccherini I., Keens T.G., Loghmanee D.A., Trang H. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010, 181:626-644.
16. Berry-Kravis E.M., Zhou L., Rand C.M., Weese-Mayer D.E. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006, 174:1139-1144.
17. Trochet D., O'Brien L.M., Gozal D., Trang H., Nordenskjold A., Laudier B., Svensson P.J., Uhrig S., Cole T., Niemann S., Munnich A., Gaultier C., Lyonnet S., Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2005, 76:421-426.
18. Weese-Mayer D.E., Rand C.M., Berry-Kravis E.M., Jennings L.J., Loghmanee D.A., Patwari P.P., Ceccherini I. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol 2009, 44:521-535.
19. Fleming P.J., Cade D., Bryan M.H., Bryan A.C. Congenital central hypoventilation and sleep state. Pediatrics. 1980, 66:425-428.
20. Paton J.Y., Swaminathan S., Sargent C.W., Keens T.G. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome. Am Rev Respir Dis 1989, 140:368-372.
21. Weese-Mayer D.E., Silvestri J.M., Menzies L.J., Morrow-Kenny A.S., Hunt C.E., Hauptman S.A. Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr 1992, 120:381-387.
22. Marcus C.L., Bautista D.B., Amihyia A., Ward S.L., Keens T.G. Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. Pediatrics. 1991, 88:993-998.
23. Gozal D., Marcus C.L., Shoseyov D., Keens T.G. Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome. J Appl Physiol 1993, 74:379-387.
24. Huang J., Marcus C.L., Bandla P., et al. Cortical processing of respiratory occlusion stimuli in children with central hypoventilation syndrome. Am J Respir Crit Care Med 2008, 178:757-764.
25. Lavorini F., Fontana G.A., Pantaleo T., et al. Fog-induced cough with impaired respiratory sensation in congenital central hypoventilation syndrome. Am J Respir Crit Care Med. 2007, 176:825-832.
26. Macey K.E., Macey P.M., Woo M.A., et al. fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome. J Appl Physiol 2004, 97:1897-1907.
27. Woo M.A., Macey P.M., Macey K.E., et al. FMRI responses to hyperoxia in congenital central hypoventilation syndrome. Pediatr Res 2005, 57:510-518.
28. Ogren J.A., Macey P.M., Kumar R., Woo M.A., Harper R.M. Central autonomic regulation in congenital central hypoventilation syndrome. Neuroscience 2010, 167:1249-1256.
29. Lein E.S., Hawrylycz M.J., Ao N., et al. Genome-wide atlas of gene expression in the adult mouse brain. Nature 2007, 445:168-176.
30. Goh D.Y., Galster P., Marcus C.L. Sleep architecture and respiratory disturbances in children with obstructive sleep apnoea. Am J Respir Crit Care Med 2000, 162:682-686.
31. Orem J.M., Lovering A.T., Vidruk E.H. Excitation of medullary respiratory neurons in REM sleep. Sleep 2005, 28:801-807.
32. Gozal D., Marcus C.L., Ward S.L., Keens T.G. Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome. Am J Respir Crit Care Med 1996, 153:761-768.
33. Paton J.Y., Swaminathan S., Sargent C.W., Hawksworth A., Keens T.G. Ventilatory response to exercise in children with congenital central hypoventilation syndrome. Am Rev Respir Dis 1993, 147:1185-1191.
34. Gozal D., Simakajornboon N. Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome. Am J Respir Crit Care Med 2000, 162:1747-1751.
35. Lesser D.J., Ward S.L., Kun S.S., Keens T.G. Congenital hypoventilation syndromes. Semin Respir Crit Care Med 2009, 30:339-347.
36. Vanderlaan M., Holbrook C.R., Wang M., Tuell A., Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 2004, 37:217-229.
37. Bolande R.P. Neurocristopathy: its growth and development in 20 years. Pediatr Pathol Lab Med 1997, 17:1-25.
38. Rohrer T., Trachsel D., Engelcke G., Hammer J. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. Pediatr Pulmonol 2002, 33:71-76.
39. Swaminathan S., Gilsanz V., Atkinson J., Keens T.G. Congenital central hypoventilation syndrome associated with multiple ganglioneuromas. Chest 1989, 96:423-424.
40. Croaker G.D., Shi E., Simpson E., Cartmill T., Cass D.T. Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 1998, 78:316-322.
41. Commare M.C., Francois B., Estournet B., Barois A. Ondine's curse: a discussion of five cases. Neuropediatrics 1993, 24:313-318.
42. Gronli J.O., Santucci B.A., Leurgans S.E., Berry-Kravis E.M., Weese-Mayer D.E. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol 2008, 43:77-86.
43. Silvestri J.M., Hanna B.D., Volgman A.S., Jones P.J., Barnes S.D., Weese-Mayer D.E. Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome. Pediatr Pulmonol 2000, 29:351-358.
44. Goldberg D.S., Ludwig I.H. Congenital central hypoventilation syndrome: ocular findings in 37 children. J Pediatr Ophthalmol Strabismus 1996, 33:175-180.
45. Katz E.S., McGrath S., Marcus C.L. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 2000, 29:62-68.
46. Ize-Ludlow D., Gray J.A., Sperling M.A., Berry-Kravis E.M., Milunsky J.M., Farooqi I.S., Rand C.M., Weese-Mayer D.E. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007, 120:179-188.
47. Marcus C.L. Sleep-disordered breathing in children. Am J Respir Crit Care Med 2001, 164:16-30.
48. Frank Y., Kravath R.E., Inoue K., et al. Sleep apnoea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: clinical and pathological studies in a child. Ann Neurol 1981, 10:18-27.
49. Proulx F., Weber M.L., Collu R., Lelievre M., Larbrisseau A., Delisle M. Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. Eur J Pediatr 1993, 152:526-529.
50. Flageole H., Ali A. Diaphragmatic pacing for the treatment of congenital central alveolar hypoventilation syndrome. J Pediatr Surg 2008, 43:792-796.
51. Chen M.L., Tablizo M.A., Kun S., Keens T.G. Diaphragm pacers as a treatment for congenital central hypoventilation syndrome. Expert Rev Med Devices 2005, 2:577-585.
52. DiMarco A.F. Phrenic nerve stimulation in patients with spinal cord injury. Respir Physiol Neurobiol 2009, 169:200-209.
53. Strauser L.M., Helikson M.A., Tobias J.D. Anesthetic care for the child with congenital central alveolar hypoventilation syndrome (Ondine's curse). J Clin Anesth 1999, 11:431-437.
54. Egan T.D., Brock-Utne J.G. Asystole after anesthesia induction with a fentanyl, propofol, and succinylcholine sequence. Anesth Analg 1991, 73:818-820.
55. Marcus C.L., Jansen M.T., Poulsen M.K., et al. Medical and psychosocial outcome of children with congenital central hypoventilation syndrome. J Pediatr 1991, 119:888-895.
56. Zelko F.A., Nelson M.N., Leurgans S.E., Berry-Kravis E.M., Weese-Mayer D.E. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol 2010, 45:92-98.
57. Chen M.L., Turkel S.B., Jacobson J.R., Keens T.G. Alcohol use in congenital central hypoventilation syndrome. Pediatr Pulmonol 2006, 41:283-285.