Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

LIN Yanxian , MA Xiaoyang ,  TENG Li

Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, P.R.China;

Corresponding author：

TENG Li, Email: tenglidr@sina.com

Keywords：

Treacher Collins syndrome; upper respiratory obstruction; treatment; research progress

DOI：

10.7507/1002-1892.201903041

Video：

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Objective To summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome (TCS).Methods The domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed.Results TCS is an autosomal-dominant craniofacial developmental syndrome. It is often accompanied by midface and/or mandibular hypoplasia, soft tissue hypertrophy, and other respiratory tissue developmental abnormalities, which can lead to different degrees of upper respiratory obstruction symptoms. Respiratory obstruction in patients with TCS is affected by many factors, and the obstructive degree are different. Early detection of the causes and obstructive sites and adopted targeted treatments can relieve the symptoms of respiratory obstruction and avoid severe complications.Conclusion Due to the low incidence of TCS, there is still a lack of high-quality research evidence to guide clinical treatment. Large-scale and prospective clinical studies are needed to provide new ideas for the treatment and prevention of upper respiratory obstruction.

Citation： LIN Yanxian, MA Xiaoyang, TENG Li. Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome. Chinese Journal of Reparative and Reconstructive Surgery, 2019, 33(12): 1578-1583. doi: 10.7507/1002-1892.201903041 Copy

1.	Lau MC, Kwong EM, Lai KP, et al. Pathogenesis of POLR1C-dependent type 3 Treacher Collins Syndrome revealed by a zebrafish model. Biochim Biophys Acta, 2016, 1862(6): 1147-1158.
2.	Yan Z, Lu Y, Wang Y, et al. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. Exp Ther Med, 2018, 16(3): 2645-2650.
3.	Kurosaka H. Choanal atresia and stenosis: development and diseases of the nasal cavity. Wiley Interdiscip Rev Dev Biol, 2019, 8(e336): 1-15.
4.	Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med, 2016, 18(1): 49-56.
5.	Tan HL, Kheirandish-Gozal L, Abel F, et al. Craniofacial syndromes and sleep-related breathing disorders. Sleep Med Rev, 2016, 27: 74-88.
6.	Kaditis AG, Alonso Alvarez ML, Boudewyns A, et al. ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children. Eur Respir J, 2017, 50(6): 1-22.
7.	Kaditis AG, Alonso Alvarez ML, Boudewyns A, et al. Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management. Eur Respir J, 2016, 47(1): 69-94.
8.	Zaffanello M, Antoniazzi F, Tenero L, et al. Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. Ann Transl Med, 2018, 6(17): 343.
9.	Cielo CM, Konstantinopoulou S, Hoque R. OSAS in specific pediatric populations. Curr Probl Pediatr Adolesc Health Care, 2016, 46(1): 11-18.
10.	Plomp RG, Van Lieshout MJ, Joosten KF, et al. Treacher Collins Syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg, 2016, 137(1): 191-204.
11.	Biskup NI, Pan BS, Elhadi-Babiker H, et al. Decannulation and airway outcomes with maxillomandibular distraction in Treacher Collins and Nager Syndrome. J Craniofac Surg, 2018, 29(3): 692-697.
12.	Joosten KF, Larramona H, Miano S, et al. How do we recognize the child with OSAS? Pediatr Pulmonol, 2017, 52(2): 260-271.
13.	Garg RK, Afifi AM, Garland CB, et al. Pediatric obstructive sleep apnea: consensus, controversy, and craniofacial considerations. Plast Reconstr Surg, 2017, 140(5): 987-997.
14.	Cielo CM, Montalva FM, Taylor JA. Craniofacial disorders associated with airway obstruction in the neonate. Semin Fetal Neonatal Med, 2016, 21(4): 254-262.
15.	Kaditis A, Kheirandish-Gozal L, Gozal D. Pediatric OSAS: Oximetry can provide answers when polysomnography is not available. Sleep Med Rev, 2016, 27: 96-105.
16.	Chervin RD, Hedger K, Dillon JE, et al. Pediatric sleep questionnaire (PSQ): validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Med, 2000, 1(1): 21-32.
17.	Friedman NR, Parikh SR, Ishman SL, et al. The current state of pediatric drug-induced sleep endoscopy. Laryngoscope, 2017, 127(1): 266-272.
18.	Slaats MA, Van Hoorenbeeck K, Van Eyck A, et al. Upper airway imaging in pediatric obstructive sleep apnea syndrome. Sleep Med Rev, 2015, 21: 59-71.
19.	Cielo CM, Marcus CL. Obstructive sleep apnoea in children with craniofacial syndromes. Paediatr Respir Rev, 2015, 16(3): 189-196.
20.	Moraleda-Cibrián M, Edwards SP, Kasten SJ, et al. Obstructive sleep apnea pretreatment and posttreatment in symptomatic children with congenital craniofacial malformations. J Clin Sleep Med, 2015, 11(1): 37-43.
21.	Plomp RG, Bredero-Boelhouwer HH, Joosten KF, et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg, 2012, 41(6): 696-701.
22.	Ma X, Forte AJ, Persing JA, et al. Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. Plast Reconstr Surg, 2015, 135(2): 382e-392e.
23.	Hopper RA, Kapadia H, Susarla S, et al. Counterclockwise craniofacial distraction osteogenesis for tracheostomy-dependent children with Treacher Collins Syndrome. Plast Reconstr Surg, 2018, 142(2): 447-457.
24.	Hosking J, Zoanetti D, Carlyle A, et al. Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. Paediatr Anaesth, 2012, 22(8): 752-758.
25.	Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg, 2014, 52(7): 581-589.
26.	van Lieshout MJ, Joosten KF, Hoeve HL, et al. Unravelling Robin sequence: considerations of diagnosis and treatment. Laryngoscope, 2014, 124(5): E203-209.
27.	Kushida C, Ding F, Endo T, et al. Effectiveness of a nasopharyngeal airway stent for treatment of obstructive sleep apnea. Sleep, 2018, 41(suppl 1): A207.
28.	Okuno K, Ono Minagi H, Ikai K, et al. The efficacy of nasal airway stent (Nastent) on obstructive sleep apnoea and prediction of treatment outcomes. J Oral Rehabil, 2019, 46(1): 51-57.
29.	Victores AJ, Olson K, Takashima M. Interventional drug-induced sleep endoscopy: a novel technique to guide surgical planning for obstructive sleep apnea. J Clin Sleep Med, 2017, 13(2): 169-174.
30.	Bohm LA, Sidman JD, Roby B. Early airway intervention for craniofacial anomalies. Facial Plast Surg Clin North Am, 2016, 24(4): 427-436.
31.	Fuentes R, De la Cuadra JC, Lacassie H, et al. Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome. Rev Bras Anestesiol, 2018, 68(1): 87-90.
32.	Fray S, Biello A, Kwan J, et al. Tracheostomy for paediatric obstructive sleep apnoea: A systematic review. J Laryngol Otol, 2018, 132(8): 680-684.
33.	Rizzi CJ, Amin JD, Isaiah A, et al. Tracheostomy for severe pediatric obstructive sleep apnea: indications and outcomes. Otolaryngol Head Neck Surg, 2017, 157(2): 309-313.
34.	McNicholas WT. Obstructive sleep apnoea and comorbidity—an overview of the association and impact of continuous positive airway pressure therapy. Expert Rev Respir Med, 2019, 13(3): 251-261.
35.	Fitz-James Antoine I, Carullo V, Hernandez CK, et al. Anatomic approach to airway management of the syndromic child. Int Anesthesiol Clin, 2017, 55(1): 52-64.
36.	Perriol MP, Jullian-Desayes I, Joyeux-Faure M, et al. Long-term adherence to ambulatory initiated continuous positive airway pressure in non-syndromic OSA children. Sleep Breath, 2019, 23(2): 575-578.
37.	de Graaff JC, Bijker JB, Kappen TH, et al. Incidence of intraoperative hypoxemia in children in relation to age. Anesth Analg, 2013, 117(1): 169-175.
38.	Cassano M, Russo G, Granieri C, et al. Modification of growth, immunologic and feeding parameters in children with OSAS after adenotonsillectomy. Acta Otorhinolaryngol Ital, 2018, 38(2): 124-130.
39.	Nguyen PD, Caro MC, Smith DM, et al. Long-term orthognathic surgical outcomes in Treacher Collins patients. J Plast Reconstr Aesthet Surg, 2016, 69(3): 402-408.
40.	Cottrell DA, Farrell B, Ferrer-Nuin L, et al. Surgical correction of maxillofacial skeletal deformities. J Oral Maxillofac Surg, 2017, 75(8S): e94-e125.
41.	Ming Y, Hu Y, Li Y, et al. Effects of maxillary protraction appliances on airway dimensions in growing class Ⅲ maxillary retrognathic patients: A systematic review and meta-analysis. Int J Pediatr Otorhinolaryngol, 2018, 105: 138-145.
42.	Stefanović N, Zivkovic S, Martin J. Pharyngeal airway changes after mono-maxillary advancement surgery. Srp Arh Celok Lek, 2018, 146(7-8): 378-383.
43.	Gürler G, Akar NK, Delilbaşi C, et al. Skeletal changes following surgically assisted rapid maxillary expansion (SARME). Eur Oral Res, 2018, 52(2): 94-98.
44.	Kavand G, Lagravere M, Kula K, et al. Retrospective CBCT analysis of airway volume changes after bone-borne vs tooth-borne rapid maxillary expansion. Angle Orthod, 2019, 89(4): 1-9.
45.	Tahiri Y, Viezel-Mathieu A, Aldekhayel S, et al. The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. Plast Reconstr Surg, 2014, 133(3): 352e-359e.
46.	Dalla Torre D, Burtscher D, Widmann G, et al. Long-term influence of mandibular advancement on the volume of the posterior airway in skeletal Class Ⅱ-patients: a retrospective analysis. Br J Oral Maxillofac Surg, 2017, 55(8): 780-786.
47.	Breik O, Tivey D, Umapathysivam K, et al. Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review. Int J Oral Maxillofac Surg, 2016, 45(6): 769-782.
48.	Ali-Khan S, Runyan C, Nardini G, et al. Treacher Collins Syndrome and tracheostomy: decannulation using mandibular distraction osteogenesis. Ann Plast Surg, 2018, 81(3): 305-310.
49.	Lee JC, Bradley JP. Surgical considerations in pierre robin sequence. Clin Plast Surg, 2014, 41(2): 211-217.
50.	Lam DJ, Tabangin ME, Shikary TA, et al. Outcomes of mandibular distraction osteogenesis in the treatment of severe micrognathia. JAMA Otolaryngol Head Neck Surg, 2014, 140(4): 338-345.
51.	Garg RK, Afifi AM, Sanchez R, et al. Obstructive sleep apnea in adults: the role of upper airway and facial skeletal surgery. Plast Reconstr Surg, 2016, 138(4): 889-898.
52.	Parsi GK, Alsulaiman AA, Kotak B, et al. Volumetric changes of the upper airway following maxillary and mandibular advancement using cone beam computed tomography. Int J Oral Maxillofac Surg, 2019, 48(2): 203-210.
53.	Krishna Kumar KS, Vylopilli S, Sivadasan A, et al. Tongue-lip adhesion in Pierre Robin sequence. J Korean Assoc Oral Maxillofac Surg, 2016, 42(1): 47-50.
54.	Camacho M, Noller MW, Zaghi S, et al. Tongue surgeries for pediatric obstructive sleep apnea: a systematic review and meta-analysis. Eur Arch Otorhinolaryngol, 2017, 274(8): 2981-2990.

1. Lau MC, Kwong EM, Lai KP, et al. Pathogenesis of POLR1C-dependent type 3 Treacher Collins Syndrome revealed by a zebrafish model. Biochim Biophys Acta, 2016, 1862(6): 1147-1158.
2. Yan Z, Lu Y, Wang Y, et al. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. Exp Ther Med, 2018, 16(3): 2645-2650.
3. Kurosaka H. Choanal atresia and stenosis: development and diseases of the nasal cavity. Wiley Interdiscip Rev Dev Biol, 2019, 8(e336): 1-15.
4. Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med, 2016, 18(1): 49-56.
5. Tan HL, Kheirandish-Gozal L, Abel F, et al. Craniofacial syndromes and sleep-related breathing disorders. Sleep Med Rev, 2016, 27: 74-88.
6. Kaditis AG, Alonso Alvarez ML, Boudewyns A, et al. ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children. Eur Respir J, 2017, 50(6): 1-22.
7. Kaditis AG, Alonso Alvarez ML, Boudewyns A, et al. Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management. Eur Respir J, 2016, 47(1): 69-94.
8. Zaffanello M, Antoniazzi F, Tenero L, et al. Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. Ann Transl Med, 2018, 6(17): 343.
9. Cielo CM, Konstantinopoulou S, Hoque R. OSAS in specific pediatric populations. Curr Probl Pediatr Adolesc Health Care, 2016, 46(1): 11-18.
10. Plomp RG, Van Lieshout MJ, Joosten KF, et al. Treacher Collins Syndrome: A systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg, 2016, 137(1): 191-204.
11. Biskup NI, Pan BS, Elhadi-Babiker H, et al. Decannulation and airway outcomes with maxillomandibular distraction in Treacher Collins and Nager Syndrome. J Craniofac Surg, 2018, 29(3): 692-697.
12. Joosten KF, Larramona H, Miano S, et al. How do we recognize the child with OSAS? Pediatr Pulmonol, 2017, 52(2): 260-271.
13. Garg RK, Afifi AM, Garland CB, et al. Pediatric obstructive sleep apnea: consensus, controversy, and craniofacial considerations. Plast Reconstr Surg, 2017, 140(5): 987-997.
14. Cielo CM, Montalva FM, Taylor JA. Craniofacial disorders associated with airway obstruction in the neonate. Semin Fetal Neonatal Med, 2016, 21(4): 254-262.
15. Kaditis A, Kheirandish-Gozal L, Gozal D. Pediatric OSAS: Oximetry can provide answers when polysomnography is not available. Sleep Med Rev, 2016, 27: 96-105.
16. Chervin RD, Hedger K, Dillon JE, et al. Pediatric sleep questionnaire (PSQ): validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Med, 2000, 1(1): 21-32.
17. Friedman NR, Parikh SR, Ishman SL, et al. The current state of pediatric drug-induced sleep endoscopy. Laryngoscope, 2017, 127(1): 266-272.
18. Slaats MA, Van Hoorenbeeck K, Van Eyck A, et al. Upper airway imaging in pediatric obstructive sleep apnea syndrome. Sleep Med Rev, 2015, 21: 59-71.
19. Cielo CM, Marcus CL. Obstructive sleep apnoea in children with craniofacial syndromes. Paediatr Respir Rev, 2015, 16(3): 189-196.
20. Moraleda-Cibrián M, Edwards SP, Kasten SJ, et al. Obstructive sleep apnea pretreatment and posttreatment in symptomatic children with congenital craniofacial malformations. J Clin Sleep Med, 2015, 11(1): 37-43.
21. Plomp RG, Bredero-Boelhouwer HH, Joosten KF, et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg, 2012, 41(6): 696-701.
22. Ma X, Forte AJ, Persing JA, et al. Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. Plast Reconstr Surg, 2015, 135(2): 382e-392e.
23. Hopper RA, Kapadia H, Susarla S, et al. Counterclockwise craniofacial distraction osteogenesis for tracheostomy-dependent children with Treacher Collins Syndrome. Plast Reconstr Surg, 2018, 142(2): 447-457.
24. Hosking J, Zoanetti D, Carlyle A, et al. Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. Paediatr Anaesth, 2012, 22(8): 752-758.
25. Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg, 2014, 52(7): 581-589.
26. van Lieshout MJ, Joosten KF, Hoeve HL, et al. Unravelling Robin sequence: considerations of diagnosis and treatment. Laryngoscope, 2014, 124(5): E203-209.
27. Kushida C, Ding F, Endo T, et al. Effectiveness of a nasopharyngeal airway stent for treatment of obstructive sleep apnea. Sleep, 2018, 41(suppl 1): A207.
28. Okuno K, Ono Minagi H, Ikai K, et al. The efficacy of nasal airway stent (Nastent) on obstructive sleep apnoea and prediction of treatment outcomes. J Oral Rehabil, 2019, 46(1): 51-57.
29. Victores AJ, Olson K, Takashima M. Interventional drug-induced sleep endoscopy: a novel technique to guide surgical planning for obstructive sleep apnea. J Clin Sleep Med, 2017, 13(2): 169-174.
30. Bohm LA, Sidman JD, Roby B. Early airway intervention for craniofacial anomalies. Facial Plast Surg Clin North Am, 2016, 24(4): 427-436.
31. Fuentes R, De la Cuadra JC, Lacassie H, et al. Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome. Rev Bras Anestesiol, 2018, 68(1): 87-90.
32. Fray S, Biello A, Kwan J, et al. Tracheostomy for paediatric obstructive sleep apnoea: A systematic review. J Laryngol Otol, 2018, 132(8): 680-684.
33. Rizzi CJ, Amin JD, Isaiah A, et al. Tracheostomy for severe pediatric obstructive sleep apnea: indications and outcomes. Otolaryngol Head Neck Surg, 2017, 157(2): 309-313.
34. McNicholas WT. Obstructive sleep apnoea and comorbidity—an overview of the association and impact of continuous positive airway pressure therapy. Expert Rev Respir Med, 2019, 13(3): 251-261.
35. Fitz-James Antoine I, Carullo V, Hernandez CK, et al. Anatomic approach to airway management of the syndromic child. Int Anesthesiol Clin, 2017, 55(1): 52-64.
36. Perriol MP, Jullian-Desayes I, Joyeux-Faure M, et al. Long-term adherence to ambulatory initiated continuous positive airway pressure in non-syndromic OSA children. Sleep Breath, 2019, 23(2): 575-578.
37. de Graaff JC, Bijker JB, Kappen TH, et al. Incidence of intraoperative hypoxemia in children in relation to age. Anesth Analg, 2013, 117(1): 169-175.
38. Cassano M, Russo G, Granieri C, et al. Modification of growth, immunologic and feeding parameters in children with OSAS after adenotonsillectomy. Acta Otorhinolaryngol Ital, 2018, 38(2): 124-130.
39. Nguyen PD, Caro MC, Smith DM, et al. Long-term orthognathic surgical outcomes in Treacher Collins patients. J Plast Reconstr Aesthet Surg, 2016, 69(3): 402-408.
40. Cottrell DA, Farrell B, Ferrer-Nuin L, et al. Surgical correction of maxillofacial skeletal deformities. J Oral Maxillofac Surg, 2017, 75(8S): e94-e125.
41. Ming Y, Hu Y, Li Y, et al. Effects of maxillary protraction appliances on airway dimensions in growing class Ⅲ maxillary retrognathic patients: A systematic review and meta-analysis. Int J Pediatr Otorhinolaryngol, 2018, 105: 138-145.
42. Stefanović N, Zivkovic S, Martin J. Pharyngeal airway changes after mono-maxillary advancement surgery. Srp Arh Celok Lek, 2018, 146(7-8): 378-383.
43. Gürler G, Akar NK, Delilbaşi C, et al. Skeletal changes following surgically assisted rapid maxillary expansion (SARME). Eur Oral Res, 2018, 52(2): 94-98.
44. Kavand G, Lagravere M, Kula K, et al. Retrospective CBCT analysis of airway volume changes after bone-borne vs tooth-borne rapid maxillary expansion. Angle Orthod, 2019, 89(4): 1-9.
45. Tahiri Y, Viezel-Mathieu A, Aldekhayel S, et al. The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. Plast Reconstr Surg, 2014, 133(3): 352e-359e.
46. Dalla Torre D, Burtscher D, Widmann G, et al. Long-term influence of mandibular advancement on the volume of the posterior airway in skeletal Class Ⅱ-patients: a retrospective analysis. Br J Oral Maxillofac Surg, 2017, 55(8): 780-786.
47. Breik O, Tivey D, Umapathysivam K, et al. Mandibular distraction osteogenesis for the management of upper airway obstruction in children with micrognathia: a systematic review. Int J Oral Maxillofac Surg, 2016, 45(6): 769-782.
48. Ali-Khan S, Runyan C, Nardini G, et al. Treacher Collins Syndrome and tracheostomy: decannulation using mandibular distraction osteogenesis. Ann Plast Surg, 2018, 81(3): 305-310.
49. Lee JC, Bradley JP. Surgical considerations in pierre robin sequence. Clin Plast Surg, 2014, 41(2): 211-217.
50. Lam DJ, Tabangin ME, Shikary TA, et al. Outcomes of mandibular distraction osteogenesis in the treatment of severe micrognathia. JAMA Otolaryngol Head Neck Surg, 2014, 140(4): 338-345.
51. Garg RK, Afifi AM, Sanchez R, et al. Obstructive sleep apnea in adults: the role of upper airway and facial skeletal surgery. Plast Reconstr Surg, 2016, 138(4): 889-898.
52. Parsi GK, Alsulaiman AA, Kotak B, et al. Volumetric changes of the upper airway following maxillary and mandibular advancement using cone beam computed tomography. Int J Oral Maxillofac Surg, 2019, 48(2): 203-210.
53. Krishna Kumar KS, Vylopilli S, Sivadasan A, et al. Tongue-lip adhesion in Pierre Robin sequence. J Korean Assoc Oral Maxillofac Surg, 2016, 42(1): 47-50.
54. Camacho M, Noller MW, Zaghi S, et al. Tongue surgeries for pediatric obstructive sleep apnea: a systematic review and meta-analysis. Eur Arch Otorhinolaryngol, 2017, 274(8): 2981-2990.

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