Sleep disordered breathing in children with achondroplasia

Abstract

Background

Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis).

Data sources

We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep.

Results

Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively.

Conclusions

The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.

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References

  1. 1

    Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008;146A:2385-2389.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  2. 2

    Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia—genetic short limbed dwarfism. Curr Drug Targets 2003;4:353–365.

    Article  PubMed  CAS  Google Scholar 

  3. 3

    Francomano CA. The genetic basis of dwarfism. N Engl J Med 1995;332:58–59.

    Article  PubMed  CAS  Google Scholar 

  4. 4

    Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007;370:162–172.

    Article  PubMed  CAS  Google Scholar 

  5. 5

    Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, et al. Respiratory complications of achondroplasia. J Pediatr 1983;102:534–541.

    Article  PubMed  CAS  Google Scholar 

  6. 6

    Julliand S, Boulé M, Baujat G, Ramirez A, Couloigner V, Beydon N, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A 2012;158A:1987-1993.

    Article  PubMed  Google Scholar 

  7. 7

    Afsharpaiman S, Saburi A, Waters KA. Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev 2013;14:250–255.

    PubMed  CAS  Google Scholar 

  8. 8

    Mogayzel PJ, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Sleep-disordered breathing in children with achondroplasia. J Pediatr 1998;132:667–671.

    Article  PubMed  Google Scholar 

  9. 9

    Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 2009;155:510–515.

    Article  PubMed  Google Scholar 

  10. 10

    Onodera K, Sakata H, Niikuni N, Nonaka T, Kobayashi K, Nakajima I, et al. Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. Int J Pediatr Otorhinolaryngol 2005;69:457–461.

    Article  PubMed  Google Scholar 

  11. 11

    Pauli RM, Scott CI, Wassman ER, Gilbert EF, Leavitt LA, Ver Hoeve J, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 1984;104:342–348.

    Article  PubMed  CAS  Google Scholar 

  12. 12

    Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA. Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am J Med Genet 1991;41:208–211.

    Article  PubMed  CAS  Google Scholar 

  13. 13

    Colamaria V, Mazza C, Beltramello A, Polo A, Boner A, Antoniazzi F, et al. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature. Brain Dev 1991;13:270–279.

    Article  PubMed  CAS  Google Scholar 

  14. 14

    Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE. Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet 1995;59:460–466.

    Article  PubMed  CAS  Google Scholar 

  15. 15

    Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. Pediatrics 1995;95:443–451.

    Google Scholar 

  16. 16

    Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child 1998;79:99–108.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. 17

    Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath 2011;15:755–761.

    Article  PubMed  Google Scholar 

  18. 18

    Fremion AS, Garg BP, Kalsbeck J. Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr 1984;104:398–401.

    Article  PubMed  CAS  Google Scholar 

  19. 19

    Mador MJ, Tobin MJ. Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? Chest 1990;97:877–883.

    Article  PubMed  CAS  Google Scholar 

  20. 20

    Onodera K, Niikuni N, Chigono T, Nakajima I, Sakata H, Motizuki H. Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. Int J Pediatr Otorhinolaryngol 2006;70:453–461.

    PubMed  Google Scholar 

  21. 21

    Collins WO, Choi SS. Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg 2007;133:237–244.

    Article  PubMed  Google Scholar 

  22. 22

    Dessoffy KE, Modaff P, Pauli RM. Airway malacia in children with achondroplasia. Am J Med Genet A 2014;164A:407-414.

    Article  PubMed  Google Scholar 

  23. 23

    Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet 1987;41:454–464.

    PubMed  PubMed Central  CAS  Google Scholar 

  24. 24

    Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE. Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology 1987;164:515–519.

    Article  PubMed  CAS  Google Scholar 

  25. 25

    Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE. Breathing abnormalities in sleep in achondroplasia. Arch Dis Child 1993;69:191–196.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  26. 26

    Boor R, Fricke G, Brühl K, Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr 1999;158:662–667.

    Article  PubMed  CAS  Google Scholar 

  27. 27

    Li L, Müller-Forell W, Oberman B, Boor R. Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia. Brain Dev 2008;30:499–503.

    Article  PubMed  CAS  Google Scholar 

  28. 28

    Shimony N, Ben-Sira L, Sivan Y, Constantini S, Roth J. Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 2015;31:743–750.

    Article  PubMed  Google Scholar 

  29. 29

    White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, et al. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A 2016;170:42–51.

    Article  Google Scholar 

  30. 30

    Goldstein SJ, Shprintzen RJ, Wu RH, Thorpy MJ, Hahm SY, Marion R, et al. Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. Birth Defects Orig Artic Ser 1985;21:93–101.

    PubMed  CAS  Google Scholar 

  31. 31

    Goldstein SJ, Wu RH, Thorpy MJ, Shprintzen RJ, Marion RE, Saenger P. Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. Acta Endocrinol (Copenh) 1987;116:95–101.

    CAS  Article  Google Scholar 

  32. 32

    Elwood ET, Burstein FD, Graham L, Williams JK, Paschal M. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs. Cleft Palate Craniofac J 2003;40:100–103.

    Article  PubMed  Google Scholar 

  33. 33

    Ottonello G, Villa G, Moscatelli A, Diana MC, Pavanello M. Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. Paediatr Anaesth 2007;17:75–79.

    Article  PubMed  Google Scholar 

  34. 34

    Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. J Neurosurg 2007;107:504–507.

    Article  PubMed  Google Scholar 

  35. 35

    Schiller O, Schwartz M, Bruckheimer E, Michowitz S, Garty BZ. Pulmonary hypertension in an infant with achondroplasia. Pediatr Neurosurg 2008;44:341–343.

    Article  PubMed  Google Scholar 

  36. 36

    DelRosso LM, Gonzalez-Toledo E, Hoque R. A three-month-old achondroplastic baby with both obstructive apneas and central apneas. J Clin Sleep Med 2013;9:287–289.

    PubMed  PubMed Central  Google Scholar 

  37. 37

    Della Marca G, Testani E, Losurdo A, Zampino G. Periodic sighs. Sleep Med 2013;14:1224–1225.

    Article  PubMed  Google Scholar 

  38. 38

    Zaffanello M, Lo Tartaro P, Piacentini G, Cantalupo G, Gasperi E, Antoniazzi F. Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. Minerva Pediatr 2015.

    Google Scholar 

  39. 39

    Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, et al. Respiratory complications of achondroplasia. J Pediatr 1983;102:534–541.

    Article  PubMed  CAS  Google Scholar 

  40. 40

    Nelson FW, Hecht JT, Horton WA, Butler IJ, Goldie WD, Miner M. Neurological basis of respiratory complications in achondroplasia. Ann Neurol 1988;24:89–93.

    Article  PubMed  CAS  Google Scholar 

  41. 41

    Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott CI, Wassman ER, et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet 1985;20:355–360.

    Article  PubMed  CAS  Google Scholar 

  42. 42

    Waters KA, Kirjavainen T, Jimenez M, Cowell CT, Sillence DO, Sullivan CE. Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. Pediatr Res 1996;39:547–553.

    Article  PubMed  CAS  Google Scholar 

  43. 43

    Zucconi M, Calori G, Castronovo V, Ferini-Strambi L. Respiratory monitoring by means of an unattended device in children with suspected uncomplicated obstructive sleep apnea: a validation study. Chest 2003;124:602–607.

    Article  PubMed  Google Scholar 

  44. 44

    Sisk EA, Heatley DG, Borowski BJ, Leverson GE, Pauli RM. Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. Otolaryngol Head Neck Surg 1999;120:248–254.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  45. 45

    King JA, Vachhrajani S, Drake JM, Rutka JT. Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 2009;4:297–306.

    Article  PubMed  Google Scholar 

  46. 46

    Schlüter B, De Sousa G, Trowitzsch E, Andler W. Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). Georgian Med News 2011:63–72.

    Google Scholar 

  47. 47

    Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, et al. Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health 2012;48:443–449.

    Article  PubMed  Google Scholar 

  48. 48

    Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M. Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr 2014;14:238–244.

    Article  PubMed  Google Scholar 

  49. 49

    Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 1996;129:743–749.

    Article  PubMed  CAS  Google Scholar 

  50. 50

    Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995;56:732–744.

    PubMed  PubMed Central  CAS  Google Scholar 

  51. 51

    White KK, Parnell SE, Kifle Y, Blackledge M, Bompadre V. Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? Am J Med Genet A 2016;170:32–41.

    Article  Google Scholar 

  52. 52

    Lyford-Lyford-Pike S, Hoover-Fong J, Tunkel DE. Otolaryngologic manifestations of skeletal dysplasias in children. Otolaryngol Clin North Am 2012;45:579–598, vii.

    Article  Google Scholar 

  53. 53

    Collop NA, Anderson WM, Boehlecke B, Claman D, Goldberg R, Gottlieb DJ, et al. Clinical guidelines for the use of unattended portable monitors in the diagnosis of obstructive sleep apnea in adult patients. Portable Monitoring Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 2007;3:737–747.

    PubMed  Google Scholar 

  54. 54

    Rosen CL, Larkin EK, Kirchner HL, Emancipator JL, Bivins SF, Surovec SA, et al. Prevalence and risk factors for sleepdisordered breathing in 8-to 11-year-old children: association with race and prematurity. J Pediatr 2003;142:383–389.

    Article  PubMed  PubMed Central  Google Scholar 

  55. 55

    Goodwin JL, Enright PL, Kaemingk KL, Rosen GM, Morgan WJ, Fregosi RF, et al. Feasibility of using unattended polysomnography in children for research—report of the Tucson Children’s Assessment of Sleep Apnea study (TuCASA). Sleep 2001;24:937–944.

    Article  PubMed  CAS  Google Scholar 

  56. 56

    Marcus CL, Brooks LJ, Draper KA, Gozal D, Halbower AC, Jones J, et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012;130:e714–e755.

    Article  PubMed  Google Scholar 

  57. 57

    Iber C, Ancoli-Israel S, Chesson A, Quan SF. The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications, 1st ed. Westchester, Illinois: American Academy of Sleep Medicine, 2007.

    Google Scholar 

  58. 58

    Alonso-Álvarez ML, Terán-Santos J, Ordax Carbajo E, Cordero-Guevara JA, Navazo-Egüia AI, Kheirandish-Gozal L, et al. Reliability of home respiratory polygraphy for the diagnosis of sleep apnea in children. Chest 2015;147:1020–1028.

    Article  PubMed  Google Scholar 

  59. 59

    Moss D, Urschitz MS, von Bodman A, Eitner S, Noehren A, Urschitz-Duprat PM, et al. Reference values for nocturnal home polysomnography in primary schoolchildren. Pediatr Res 2005;58:958–965.

    Article  PubMed  Google Scholar 

  60. 60

    Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, et al. Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 2012;8:597–619.

    PubMed  PubMed Central  Google Scholar 

  61. 61

    Horemuzova E, Katz-Salamon M, Milerad J. Increased inspiratory effort in infants with a history of apparent lifethreatening event. Acta Paediatr 2002;91:280–286; discussion 260-281.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Marco Zaffanello.

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Zaffanello, M., Cantalupo, G., Piacentini, G. et al. Sleep disordered breathing in children with achondroplasia. World J Pediatr 13, 8–14 (2017). https://doi.org/10.1007/s12519-016-0051-9

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Key words

  • achondroplasia
  • children
  • polysomnography
  • sleep disordered breathing
  • upper respiratory tract obstruction