Obstructive sleep apnea and syndromic craniosynostosis: a literature review
DOI:
https://doi.org/10.11606/issn.1679-9836.v105i3e-232075Keywords:
Sleep apnea syndromes, craniosynostoses, reviewAbstract
This study presents a scoping review aimed at deepening the understanding of factors related to obstructive sleep apnea (OSA) in individuals with syndromic craniosynostosis (SC). Thirty-two articles published between 1990 and 2022 were analyzed, extracted from the Embase, Lilacs, PubMed, Scopus, and Web of Science databases. The Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes were the most frequent in the sample, composed mostly of children and adolescents up to 18 years old. The prevalence of OSA varied widely, between 18% to 77.3%, and was more common in patients under five years of age, with diagnosis predominantly made by polysomnography, which is considered the gold standard exam. The most frequent clinical symptoms included snoring, daytime sleepiness, mouth breathing, and recurrent respiratory infections, with signs worsening during REM sleep and in episodes of upper airway infections. Altered anatomy, especially midface hypoplasia and increased length of the upper airways, contributes to multiple levels of obstruction, although the presence of brainstem herniation has not been shown to be associated with a higher incidence of OSA. Furthermore, the review highlights a possible correlation between moderate to severe OSA and the development of intracranial hypertension, a condition prevalent in up to one-third of patients with SC, especially in Crouzon syndrome. This increase in intracranial pressure can worsen the clinical picture, requiring careful monitoring. Screening questionnaires applied together with polysomnography proved useful for early identification of OSA. In summary, obstructive sleep apnea in patients with syndromic craniosynostosis is a multifactorial and complex condition that requires individualized and multidisciplinary evaluation to minimize its negative impacts on the health and development of these patients, highlighting the need for future research to better elucidate its interrelations and optimize clinical management.
Downloads
References
1. Araújo LA de, Azevedo JMC de. Craniossinostose, a importância do exame clínico na atenção básica: Um relato de caso. Braz J Health Rev. 2020;3(4):10407–17. Doi: 10.34119/bjhrv3n4-260.
2. Renier D, Arnaud E, Marchac D. Classification des craniosténoses. Neurochirurgie [Internet]. 2006;52(2, Parte 2):200–27. Doi: 10.1016/S0028-3770(06)71216-4.
3. Bannink N, Maliepaard M, Raat H, Joosten KFM, Mathijssen IMJ. Obstructive Sleep Apnea-Specific Quality of Life and Behavioral Problems in Children with Syndromic Craniosynostosis. J Dev Behav Pediatr. 2011;32(3):233–8. Doi: 10.1097/DBP.0b013e318206d5e3
4. Alsaadi MM, Iqbal SM, Elgamal EA, Salih MA, Gozal D. Sleep-disordered breathing in children with craniosynostosis. Sleep Breath. 2012;17(1): 389–93. Doi: 10.1007/s11325-012-0706-2
5. American Thoracic Society. Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med. 1996;153(2):866–78. Doi: 10.1164/ajrccm.153.2.8564147
6. Couloigner V, Ayari Khalfallah S. Craniosynostosis and ENT. Neurochirurgie. 2019;65(5):318–21. Doi: 10.1016/j.neuchi.2019.09.015
7. Al-Saleh S, Riekstins A, Forrest CR, Philips JH, Gibbons J, Narang I. Sleep-related disordered breathing in children with syndromic craniosynostosis. J Craniomaxillofac Surg. 2011;39(3):153–7. Doi: 10.1016/j.jcms.2010.04.011.
8. Cielo CM, Marcus CL. Obstructive sleep apnoea in children with craniofacial syndromes. Paediatr Resp Rev. 2015;16(3):189-96. Doi: 10.1016/j.prrv.2014.11.003
9. Driessen C, Joosten KFM, Bannink N, Bredero-Boelhouwer HH, Hoeve HLJ, Wolvius EB, et al. How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study. Arch Dis Child [Internet]. 2013;98(7):538–43. Doi: 10.1136/archdischild-2012-302745.
10. Methodology for JBI Scoping Reviews [Internet]. https://reben.com.br/revista/wp-content/uploads/2020/10/Scoping.pdf
11. Mathews F, Shaffer AD, Georg MW, Ford MD, Goldstein JA, Jabbour N, et al. Airway anomalies in patients with craniosynostosis. The Laryngoscope. 2018;129(11):2594–602. Doi: 10.1002/lary.27589
12. Mixter RC, David DJ, Perloff WH, Green CG, Pauli RM, Popic PM. Obstructive Sleep Apnea in Apertʼs and Pfeifferʼs Syndromes. Plast Reconstr Surg. 1990;86(3):457–63. Doi: 10.1097/00006534-199009000-00011
13. Inverso G, Brustowicz KA, Katz E, Padwa BL. The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis. Int J Oral Maxillofac Surg [Internet]. 2016;45(2):167–9. Doi: 10.1016/j.ijom.2015.10.003
14. Gonsalez S, Thompson D, Hayward R, Lane R. Treatment of obstructive sleep apnoea using nasal CPAP in children with craniofacial dysostoses. Childs Nerv Syst. 1996;12(11):713–9. Doi: 10.1007/BF00366156
15. de Goederen R, Yang S, Pullens B, Wolvius EB, Joosten KFM, Mathijssen IMJ. Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life. J Plast Reconstr Aesthet Surg. [Internet]. 2021;74(10):2674–82. Doi: 10.1016/j.bjps.2021.03.033
16. Bannink N, Maliepaard M, Raat H, Joosten KFM, Mathijssen IMJ. Health-related quality of life in children and adolescents with syndromic craniosynostosis. J Plast Reconstr Aesthet Surg. 2010;63(12):1972–81. Doi: 10.1016/j.bjps.2010.01.036
17. de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen MLC, Bartels MC, Hoeve LJ, et al. Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg. 2010;63(10):1635–41. Doi: 10.1016/j.bjps.2009.10.029
18. Doerga PN, Spruijt B, Mathijssen IMJ, Wolvius EB, Joosten KFM, van der Schroeff MP. Upper airway endoscopy to optimize obstructive sleep apnea treatment in Apert and Crouzon syndromes. J Craniomaxillofac Surg. 2016;44(2):191–6. Doi: 10.1016/j.jcms.2015.11.004
19. Gonsalez SL, Thompson D, Hayward R, Lane R. Breathing patterns in children with craniofacial dysostosis and hindbrain herniation. Eur Respir J [Internet]. 1998;11(4):866–72. Doi: 10.1183/09031936.98.11040866
20. Yang S, de Goederen R, Bredero-Boelhouwer H, Joosten KFM, Mathijssen IMJ. Accuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients With Syndromic Craniosynostosis. J Craniofac Surg [Internet]. 2022;33(8):2538–42. Doi: 10.1097/SCS.0000000000008801
21. Järund M, Dellborg C, Carlson J, Lauritzen C, Hasse Ejnell. Treatment of sleep apnoea with continuous positive airway pressure in children with craniofacial malformations. Scand J Plast Reconstr Surg Hand Surg. 1999;33(1):67–71. Doi: 10.1080/02844319950159640
22. Randhawa PS, Ahmed J, Nouraei SR, Wyatt ME. Impact of Long-term Nasopharyngeal Airway on Health-Related Quality of Life of Children With Obstructive Sleep Apnea Caused by Syndromic Craniosynostosis. J Craniofac Surg. 2011;22(1):125–8. Doi: 10.1097/SCS.0b013e3181f6f82c.
23. Gonsalez S, Hayward R, Jones B, Lane R. Upper airway obstruction and raised intracranial pressure in children with craniosynostosis. Eur Respir J. 1997;10(2):367–75. Doi: 10.1183/09031936.97.10020367
24. Bannink N, Mathijssen IMJ, Joosten KFM. Can parents predict obstructive sleep apnea in children with syndromic or complex craniosynostosis? Int J Oral Maxillofac Surg. 2010;39(5):421–3. Doi: 10.1016/j.ijom.2010.02.001.
25. Luna-Paredes C, Antón-Pacheco JL, G. García Hernández, Antonio Martínez Gimeno, Romance I, Ismael I. Screening for symptoms of obstructive sleep apnea in children with severe craniofacial anomalies: Assessment in a multidisciplinary unit. Int J Pediatr Otorhinolaryngol. 2012;76(12):1767–70. Doi: 10.1016/j.ijporl.2012.08.020.
26. Pijpers M, Poels PJP, Vaandrager JM, de Hoog M, van den Berg S, Hoeve HJ, et al. Undiagnosed Obstructive Sleep Apnea Syndrome in Children With Syndromal Craniofacial Synostosis. J Craniofac Surg. 2004;15(4):670–4. Doi: 10.1097/00001665-200407000-00026.
27. Filiaci F, Riccardi E, Ungari C, Agrillo A, Quarato D. Variation of the upper airways in pediatric patients with OSAS and retrusion of the midface. Ann Ital Chir [Internet]. 2014;85(1):22–7. https://pubmed.ncbi.nlm.nih.gov/23416423.
28. Dentino K, Ganjawalla K, Inverso G, Mulliken JB, Padwa BL. Upper Airway Length is Predictive of Obstructive Sleep Apnea in Syndromic Craniosynostosis. J Oral Maxillofac Surg [Internet]. 2015;73(12 Supl):S20-25. Doi: 10.1016/j.joms.2015.04.017
29. Resnick CM, Middleton JK, Calabrese CE, Ganjawalla K, Padwa BL. Retropalatal Cross-Sectional Area Is Predictive of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis. Cleft Palate Craniofac J [Internet]. 2020;57(5):560–5. Doi: 10.1177/1055665619882571
30. Forte AJ, Lu X, Hashim PW, Steinbacher DM, Alperovich M, Persing JA, et al. Analysis of Airway and Midface in Crouzon Syndromes. Ann Plast Surg. 2019;82(6):686–91. Doi: 10.1097/SAP.0000000000001740.
31. Forte AJ, Lu X, Hashim PW, Steinbacher DM, Alperovich M, Persing JA, et al. Airway Analysis in Apert Syndrome. Plast Reconstr Surg [Internet]. 2019;144(3):704–9. Doi: 10.1097/PRS.0000000000005937
32. de Goederen R, Joosten KFM, den Ottelander BK, van der Oest MJW, Bröker-Schenk EMM, van Veelen MLC, et al. Improvement in Sleep Architecture is associated with the Indication of Surgery in Syndromic Craniosynostosis. Plast Reconstr Surg Glob Open [Internet]. 2019;7(9):e2419. Doi: 10.1097/GOX.0000000000002419
33. Spruijt B, Mathijssen IMJ, Bredero-Boelhouwer HH, Cherian PJ, Corel LJA, van Veelen ML, et al. Sleep Architecture Linked to Airway Obstruction and Intracranial Hypertension in Children with Syndromic Craniosynostosis. Plast Reconstr Surg [Internet]. 2016;138(6):1019e1029e. Doi: 10.1097/PRS.0000000000002741
34. Doerga PN, Goederen R de, van Veelen MLC, Joosten KFM, Tasker RC, Mathijssen IMJ. What We Know About Intracranial Hypertension in Children With Syndromic Craniosynostosis. J Craniofac Surg [Internet]. 2023;34(7):1903–14. Doi: 10.1097/SCS.0000000000009517
35. B.K. den Otterlander, R. de Goederen, C.A. de Planque, S.J. Baart, M.L.C. van Veelen, L.J.A. Corel, et al. Cervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis. AJNR Am J Neuroradiol [Internet]. 2020;42(1):201–5. Doi: 10.3174/ajnr.A6881
36. Savini S, Ciorba A, Bianchini C, Stomeo F, Corazzi V, Vicini C, et al. Assessment of obstructive sleep apnoea (OSA) in children: an update. Acta Otorhinolaryngol Ital [Internet]. 2019;39(5):289–97. Doi: 10.14639/0392-100X-N0262
37. Myers KA, Mrkobrada M, Simel DL. Does This Patient Have Obstructive Sleep Apnea? JAMA. 2013;310(7):731. Doi: 10.1001/jama.2013.276185.
38. Carroll JL, McColley SA, Marcus CL, Curtis S, Loughlin GM. Inability of Clinical History to Distinguish Primary Snoring From Obstructive Sleep Apnea Syndrome in Children. Chest [Internet]. 1995;108(3):610–8. Doi: 10.1378/chest.108.3.610
39. Hoeve LJ, Pijpers M, Joosten KFM. OSAS in craniofacial syndromes: an unsolved problem. Int J Pediatr Otorhinolaryngol. 2003;67:S111–3. Doi: 10.1016/j.ijporl.2003.08.007.
40. Bannink N, Nout E, Wolvius EB, Hoeve HLJ, Joosten KFM, Mathijssen IMJ. Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg. 2010;39(2):115–21. Doi: 10.1016/j.ijom.2009.11.021.
41. Amonoo-Kuofi K, Phillips SP, Randhawa PS, Lane R, Wyatt ME, Leighton SEJ. Adenotonsillectomy for Sleep-Disordered Breathing in Children With Syndromic Craniosynostosis. J Craniofac Surg. 2009;20(6):1978–80. Doi: 10.1097/SCS.0b013e3181bd2c9a.
42. Nout E, Bannink N, Koudstaal MJ, Veenland JF, Joosten K, R. M. L. Poublon, et al. Upper airway changes in syndromic craniosynostosis patients following midface or monobloc advancement: Correlation between volume changes and respiratory outcome. J Craniomaxillofac Surg. 2012;40(3):209–14. Doi: 10.1016/j.jcms.2011.04.017.
43. Susarla SM, Abramson ZR, Dodson TB, Kaban LB. Cephalometric measurement of upper airway length correlates with the presence and severity of obstructive sleep apnea. J Oral Maxillofac Surg [Internet]. 2010;68(11):2846–55. Doi: 10.1016/j.joms.2010.06.196
44. Susarla SM, Thomas RJ, Abramson ZR, Kaban LB. Biomechanics of the upper airway: Changing concepts in the pathogenesis of obstructive sleep apnea. Int J Oral Maxillofac Surg. 2010;39(12):1149–59. Doi: 10.1016/j.ijom.2010.09.007.
45. Driessen C, Joosten KFM, Florisson JMG, Lequin M, van Veelen MLC, Dammers R, et al. Sleep apnoea in syndromic craniosynostosis occurs independent of hindbrain herniation. Childs Nerv Syst [Internet]. 2013;29(2):289–96. Doi: 10.1007/s00381-012-1922-6
46. Bartels MC, Vaandrager JM, de Jong THR, Simonsz HJ. Visual Loss in Syndromic Craniosynostosis With Papilledema But Without Other Symptoms of Intracranial Hypertension. J Craniofac Surg. 2004;15(6):1019–22. Doi: 10.1097/00001665-200411000-00026.
47. Spruijt B, Joosten KFM, Driessen C, Dimitris Rizopoulos, Naus NC, Marc, et al. Algorithm for the Management of Intracranial Hypertension in Children with Syndromic Craniosynostosis. Plast Reconstr Surg. 2015;136(2):331–40. Doi: 10.1097/PRS.0000000000001434.
48. Vartin CV, Nguyen AM, Balmitgere T, Bernard M, Tilikete C, Vighetto A. Detection of mild papilloedema using spectral domain optical coherence tomography. Br J Ophthalmol. 2011;96(3):375–9. Doi: 10.1136/bjo.2010.199562.
49. Steiner LA, Andrews PJD. Monitoring the injured brain: ICP and CBF. Br J Anaesth. 2006;97(1):26–38. Doi: 10.1093/bja/ael110.
50. Hayward R. Venous hypertension and craniosynostosis. Childs Nerv Syst [Internet]. 2005 Out 1;21(10):880–8. Doi: 10.1007/s00381-004-1114-0
51. Thompson DNP, Harkness W, Jones BM, Hayward RD. Aetiology of Herniation of the Hindbrain in Craniosynostosis. Pediatr Neurosurg. 1997;26(6):288–95. Doi: 10.1159/000121208.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Aline Donata Tanoue, Isabela Alves Campos Alcon, Stephanie Domeneck Nissan, Luiz Otávio da Silva, Dr. Sergio Henrique Kiemle Trindade, Dr. Adriano Yacubian Fernandes
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
