Open Access

Genetic diseases with impaired central respiratory control

The EuroBiotech Journal's Cover Image
The EuroBiotech Journal
MAGI group activity - Research, diagnosis and treatment of genetic and rare diseases

Cite

1. Sowho M, Amatoury J, Kirkness JP, Patil SP. Sleep and respiratory physiology in adults. Clin Chest Med. 2014;35(3):469-481.10.1016/j.ccm.2014.06.00225156763Search in Google Scholar

2. Smith JC, Ellenberger HH, Ballanyi K, Richter DW, Feldman JL. Pre-Botzinger complex: a brainstem region that may generate respiratory rhythm in mammals. Science. 1991;254(5032):726-729.10.1126/science.168300532099641683005Search in Google Scholar

3. Dutschmann M, Dick TE. Pontine mechanisms of respiratory control. Compr Physiol. 2012;2(4):2443-2469.10.1002/cphy.c100015442249623720253Search in Google Scholar

4. Ross KR, Rosen CL. Sleep and respiratory physiology in children. Clin Chest Med. 2014;35(3):457-467.10.1016/j.ccm.2014.06.00325156762Open DOISearch in Google Scholar

5. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis and management. Am J Respir Crit Care Med. 2010;181(6):626-644.10.1164/rccm.200807-1069ST20208042Search in Google Scholar

6. Huang J, Colrain IM, Panitch HB, et al. Effect of sleep stage on breathing in children with central hypoventilation. Journal of applied physiology. 2008;105(1):44-53.10.1152/japplphysiol.01269.2007249483818499780Search in Google Scholar

7. 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 (Lond). 2005;108(3):225-230.10.1042/CS2004028215544572Search in Google Scholar

8. Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hour BP in children with congenital central hypoventilation syndrome. Chest. 2003;124(4):1393-1399.10.1378/chest.124.4.139314555571Search in Google Scholar

9. Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008;43(1):77-86.10.1002/ppul.2074418041756Search in Google Scholar

10. Todd ES, Scott NM, Weese-Mayer DE, et al. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006;118(2):e408-414.10.1542/peds.2005-313416882781Search in Google Scholar

11. 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(10):1139-1144.10.1164/rccm.200602-305OC16888290Search in Google Scholar

12. Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet. 2001;100(3):237-245.10.1002/ajmg.124911343310Open DOISearch in Google Scholar

13. Trochet D, O’Brien LM, Gozal D, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005;76(3):421-426.10.1086/428366119639415657873Open DOISearch in Google Scholar

14. Patwari PP, Stewart TM, Rand CM, et al. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. Pediatr Res. 2012;71(3):280-285.10.1038/pr.2011.3822278185Search in Google Scholar

15. Pine DS, Weese-Mayer DE, Silvestri JM, Davies M, Whitaker AH, Klein DF. Anxiety and congenital central hypoventilation syndrome. Am J Psychiatry. 1994;151(6):864-870.10.1176/ajp.151.6.8648184995Search in Google Scholar

16. Healy F, Marcus CL. Congenital central hypoventilation syndrome in children. Paediatr Respir Rev. 2011;12(4):253-263.10.1016/j.prrv.2010.10.00122018041Open DOISearch in Google Scholar

17. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis and management. American journal of respiratory and critical care medicine. 2010;181(6):626-644.10.1164/rccm.200807-1069ST20208042Search in Google Scholar

18. Rett A. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr. 1966;116(37):723-726.Search in Google Scholar

19. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185-188.10.1038/1381010508514Search in Google Scholar

20. Scala E, Ariani F, Mari F, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005;42(2):103-107.10.1136/jmg.2004.026237173597715689447Open DOISearch in Google Scholar

21. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61-65.10.1002/mrdd.1002012112728Open DOISearch in Google Scholar

22. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944-950.10.1002/ana.22124305852121154482Open DOISearch in Google Scholar

23. Ramirez JM, Ward CS, Neul JL. Breathing challenges in Rett syndrome: lessons learned from humans and animal models. Respir Physiol Neurobiol. 2013;189(2):280-287.10.1016/j.resp.2013.06.022381232923816600Search in Google Scholar

24. Kerr AM. A review of the respiratory disorder in the Rett syndrome. Brain Dev. 1992;14 Suppl:S43-45.Search in Google Scholar

25. Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Ramirez JM. Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings. Pediatr Pulmonol. 2008;43(11):1045-1060.10.1002/ppul.2086618831533Search in Google Scholar

26. Julu PO, Kerr AM, Apartopoulos F, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85(1):29-37.10.1136/adc.85.1.29171886011420195Search in Google Scholar

27. Engerstrom IW, Kerr A. Workshop on Autonomic Function in Rett Syndrome. Swedish Rett Center Froson, Sweden, May 1998. Brain Dev. 1998;20(5):323-326.Search in Google Scholar

28. Julu PO, Kerr AM, Hansen S, Apartopoulos F, Jamal GA. Functional evidence of brain stem immaturity in Rett syndrome. Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:47-54.Search in Google Scholar

29. Aycan Z, Bas VN. Prader-Willi syndrome and growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2014;6(2):62-67.10.4274/jcrpe.1228414157724932597Search in Google Scholar

30. Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome. Int J Pediatr Endocrinol. 2013;2013(1):14. 10.1186/1687-9856-2013-14375177523962041Search in Google Scholar

31. Laurier V, Lapeyrade A, Copet P, et al. Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France. J Intellect Disabil Res. 2014.10.1111/jir.1214024947991Search in Google Scholar

32. Urquhart DS, Gulliver T, Williams G, Harris MA, Nyunt O, Suresh S. Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome. Arch Dis Child. 2013;98(8):592-595.10.1136/archdischild-2012-30344123761691Search in Google Scholar

33. Gozal D, Arens R, Omlin KJ, Ward SL, Keens TG. Absent peripheral chemosensitivity in Prader-Willi syndrome. J Appl Physiol (1985). 1994;77(5):2231-2236.10.1152/jappl.1994.77.5.22317868439Search in Google Scholar

34. Arens R, Gozal D, Burrell BC, et al. Arousal and cardiorespiratory responses to hypoxia in Prader-Willi syndrome. Am J Respir Crit Care Med. 1996;153(1):283-287.10.1164/ajrccm.153.1.85421308542130Search in Google Scholar

35. Urquhart DS, Gulliver T, Williams G, Harris MA, Nyunt O, Suresh S. Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome. Arch Dis Child. 2013;98(8):592-595.10.1136/archdischild-2012-30344123761691Search in Google Scholar

36. Cohen M, Hamilton J, Narang I. Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi Syndrome. PLoS One. 2014;9(6):e101012.10.1371/journal.pone.0101012407619924979549Search in Google Scholar

37. Sedky K, Bennett DS, Pumariega A. Prader Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. Clin Sleep Med. 2014;10(4):403-409.10.5664/jcsm.3616396038324733986Search in Google Scholar

38. Weselake SV, Foulds JL, Couch R, Witmans MB, Rubin D, Haqq AM. Prader-Willi syndrome, excessive daytime sleepiness and narcoleptic symptoms: a case report. J Med Case Rep. 2014;8:127.10.1186/1752-1947-8-127400014124742112Search in Google Scholar

39. De Cock VC, Diene G, Molinas C, et al. Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome. Am J Med Genet A. 2011;155A(7):1552-1557.10.1002/ajmg.a.3404721671379Search in Google Scholar

40. Pandi-Perumal SR, Kramer M. Sleep and mental illness. Cambridge ; New York: Cambridge University Press; 2010. 10.1017/CBO9781139042734Search in Google Scholar

41. Berini J, Spica Russotto V, Castelnuovo P, et al. Growth hormone therapy and respiratory disorders: long-term follow-up in PWS children. J Clin Endocrinol Metab. 2013;98(9):E1516-1523.10.1210/jc.2013-183123894156Open DOISearch in Google Scholar

42. Deal CL, Tony M, Hoybye C, et al. GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98(6):E1072-1087.10.1210/jc.2012-3888378988623543664Open DOISearch in Google Scholar

43. Karegowda LH, Shenoy PM, Sripathi S, Varman M. Joubert syndrome. BMJ Case Rep. 2014;2014.10.1136/bcr-2014-203887396295924654256Search in Google Scholar

44. Nag C, Ghosh M, Das K, Ghosh T. Joubert syndrome: the molar tooth sign of the mid-brain. Ann Med Health Sci Res. 2013;3(2):291-294.10.4103/2141-9248.113686372888323919210Open DOISearch in Google Scholar

45. Wolfe L, Lakadamyali H, Mutlu GM. Joubert syndrome associated with severe central sleep apnea. J Clin Sleep Med. 2010;6(4):384-388.10.5664/jcsm.27882Search in Google Scholar

46. Wolfe L, Lakadamyali H, Mutlu GM. Joubert syndrome associated with severe central sleep apnea. J Clin Sleep Med. 2010;6(4):384-388.10.5664/jcsm.27882Search in Google Scholar

47. Kamdar BB, Nandkumar P, Krishnan V, Gamaldo CE, Collop NA. Self-reported sleep and breathing disturbances in Joubert syndrome. Pediatr Neurol. 2011;45(6):395-399.10.1016/j.pediatrneurol.2011.09.005Open DOISearch in Google Scholar

48. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013;12(9):894-905.10.1016/S1474-4422(13)70136-4Open DOISearch in Google Scholar

eISSN:
2564-615X
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Life Sciences, other, Medicine, Biomedical Engineering, Physics, Nanotechnology, Biophysics