Apneia obstrutiva do sono e craniossinostoses sindrômicas: uma revisão de literature
DOI:
https://doi.org/10.11606/issn.1679-9836.v105i3e-232075Palavras-chave:
Síndromes da apneia do sono, craniossinostose , revisãoResumo
Este estudo apresenta uma revisão de escopo que visa aprofundar o entendimento sobre os fatores relacionados à apneia obstrutiva do sono (AOS) em indivíduos com craniossinostose sindrômica (CS). 32 artigos publicados entre 1990 e 2022 foram analisados, extraídos das bases Embase, Lilacs, PubMed, Scopus e Web of Science. As síndromes de Apert, Crouzon, Pfeiffer, Muenke e Saethre-Chotzen foram as mais frequentes na amostra, composta majoritariamente por crianças e adolescentes de até 18 anos. A prevalência de AOS variou amplamente, entre 18% e 77,3%, sendo mais comum em pacientes menores de cinco anos, com diagnóstico predominante por meio de polissonografia, exame considerado padrão-ouro. Os sintomas clínicos mais frequentes incluíram ronco, sonolência diurna, respiração bucal e infecções respiratórias recorrentes, com piora dos sinais durante o sono REM e em episódios de infecções das vias aéreas superiores. A anatomia alterada, especialmente a hipoplasia do terço médio da face e o aumento do comprimento das vias aéreas superiores, contribui para múltiplos níveis de obstrução, embora a presença de herniação do romboencéfalo não tenha se mostrado associada à maior incidência de AOS. Além disso, a revisão destaca uma possível correlação entre AOS moderada a grave e o desenvolvimento de hipertensão intracraniana, condição prevalente em até um terço dos pacientes com CS, especialmente na síndrome de Crouzon. Este aumento da pressão intracraniana pode agravar o quadro clínico, demandando monitoramento cuidadoso. Questionários de triagem aplicados em conjunto com a polissonografia mostraram-se úteis para a identificação precoce da AOS. Em suma, a apneia obstrutiva do sono em pacientes com craniossinostose sindrômica é uma condição multifatorial e complexa, que requer avaliação individualizada e multidisciplinar para minimizar seus impactos negativos na saúde e no desenvolvimento desses pacientes, ressaltando a necessidade de pesquisas futuras para elucidar melhor suas inter-relações e otimizar o manejo clínico.
Downloads
Referências
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
Publicado
Edição
Seção
Licença
Direitos autorais (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

Este trabalho está licenciado sob uma licença Creative Commons Attribution-ShareAlike 4.0 International License.