Revisiting Down syndrome from the ENT perspective: review of literature and recommendations

Abstract

Down syndrome is the most common chromosomal abnormality among live born infants reaching up to 1 in 700 births and is characterized by a variety of dysmorphic features and medical conditions. The potential to reach their full developmental capacities can be hindered by ear, nose, and throat problems. Hence, knowledge of the various anatomic peculiarities that predispose them to various medical conditions is fundamental. The medical states resulting from these variations and suggested treatment options are reviewed. Such conditions include refractory otitis, eustachian tube dysfunction, laryngomalacia, tracheal stenosis, obstructive sleep apnea, hearing loss, and voice and articulatory impairments. This review revisits besides the otolaryngeal pathologies, special medical considerations in Down’s syndrome patients that might affect surgical outcomes used in the management of the above pathologies.

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Abbreviations

DS:

Down syndrome

OSA:

Obstructive sleep apnea

ET:

Eustachian tube

BAHA:

Bone-anchored hearing aid

SCC:

Semicircular canals

ABR:

Acoustic brain response

OAE:

Otoacoustic emissions

CPAP:

Continuous positive airway pressure

FESS:

Functional endoscopic sinus surgery

T&A:

Tonsillectomy and adenoidectomy

BMI:

Body mass index

GERD:

Gastroesophageal reflux disease

References

  1. 1.

    Resta R (2005) Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: implications for prenatal screening and genetic counseling. Am J Med Genet A 133A(1):31

    PubMed  Article  Google Scholar 

  2. 2.

    Davidson MA (2008) Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am 55:1099–1111

    PubMed  Article  Google Scholar 

  3. 3.

    Farkas LG, Katic MJ, Forest CR, Litsas L (2001) Surface anatomy of the face in Down syndrome: linear and angular measurements in the craniofacial regions. J Craniofac Surg 129(4):373–379

    Article  Google Scholar 

  4. 4.

    Shott SR, Amin R, Chini B, Heubi C, Hotze S, Akers R (2006) Obstructive sleep apnea: should all children with Down syndrome be tested? Arch Otolaryngol 132:432–436

    Article  Google Scholar 

  5. 5.

    Ng DK, Hui HN, Chan CH, Kwok KL, Chow PY, Cheung JM, Leung SY (2006) Obstructive sleep apnoea in children with Down syndrome. Singapore Med J 47(9):774–779

    CAS  PubMed  Google Scholar 

  6. 6.

    Shott S (2006) Down syndrome: common otolaryngologic manifestations. Am J Med Genet C 42C:131–140

    Article  Google Scholar 

  7. 7.

    Bacciu A, Pasanisi E, Vincenti V, Giordano D, Caruso A, Lauda L, Bacciu S (2005) Surgical treatment of middle ear cholesteatoma in children with Down syndrome. Otol Neurotol 26:1007–1010

    PubMed  Article  Google Scholar 

  8. 8.

    Iino Y, Imamura Y, Harigai S, Tanaka Y (1999) Efficacy of tympanostomy tube insertion for otitis media with effusion in children with Down syndrome. Int J Pediatr Otorhinolaryngol 49:143–149

    CAS  PubMed  Article  Google Scholar 

  9. 9.

    Verstegen RJ, Kusters MAA, Gemen EFA, DE Vries E (2010) Down syndrome B-lymphocyte subpopulations, intrinsic defect or decreased T-lymphocyte help. Pediatr Res 67(5):563–569

    CAS  PubMed  Article  Google Scholar 

  10. 10.

    Miura M, Sando I, Balaban C, Haginiomori SI, Orita Y (2002) Temporal bone morphometric study on the eustachian tube and its associated structures in patients with chromosomal aberrations. Ann Otol Rhinol Laryngol 111(8):722–729

    PubMed  Google Scholar 

  11. 11.

    Blaser S, Propst E, Martin D, Feigenbaum A, James A, Shannon P, Papsin B (2006) Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope 116:2113–2119

    PubMed  Article  Google Scholar 

  12. 12.

    Mc Dermott AL, Williams J, Kuo MJ, Reid AP, Proops DW (2008) The role of BAHA in children with Down syndrome. Int J Pediatr Otorhi 72:751–757

    Article  Google Scholar 

  13. 13.

    Venail F, Gardiner Q, Mondain M (2004) ENT and speech disorders in children with Down’s syndrome: an overview of pathophysiology, clinical features, treatments, and current management. Clin Pediatr 43(9):783–791

    Article  Google Scholar 

  14. 14.

    Shires CB, Anold SL, Schoumacher RA, Dehoff GW, Donepudi SK, Stocks RM (2010) Body mass index as an indicator of obstructive sleep apnea in pediatric Down syndrome. Int J Pediatr Otorhinolaryngol 74:768–772

    PubMed  Article  Google Scholar 

  15. 15.

    Merrel JA, Shott SR (2007) OSAS in Down syndrome: T&A versus T&A plus lateral pharyngoplasty. Int J Pediatr Otorhinolaryngol 71:1197–1203

    Article  Google Scholar 

  16. 16.

    Shete M, Stocks RM, Sebelik ME, Schoumacher RA (2010) Effects of adeno-tonsillectomy on polysomnography patterns in Down syndrome children with obstructive sleep apnea: a comparative study with children without Down syndrome. Int J Pediatr Otorhinolaryngol 74:241–244

    PubMed  Article  Google Scholar 

  17. 17.

    Miloro M (2010) Mandibular distraction osteogenesis. J Oral Maxillofac Surg 68:1512–1523

    PubMed  Article  Google Scholar 

  18. 18.

    Mitchell RB, Call E, Kelly J (2003) Diagnosis and therapy for airway obstruction in children with Down syndrome. Arch Otolaryngol 129:642–645

    Article  Google Scholar 

  19. 19.

    Mitchell RB, Call E, Kelly J (2003) Ear, nose and throat disorders in children with Down syndrome. Laryngoscope 113:259–263

    PubMed  Article  Google Scholar 

  20. 20.

    Bravo MN, Kaul A, Rutter MJ, Elluru RJ (2006) Down syndrome and complete tracheal rings. J Pediatr 148:392–395

    PubMed  Article  Google Scholar 

  21. 21.

    Meitzner MC, Skurnowicz JA (2005) Anesthetic considerations for patients with Down syndrome. AANA 73(2):103–107

    Google Scholar 

  22. 22.

    Bertrand P, Navarro H, Caussade H, Holmgren N, Sánchez I (2003) Airway anomalies in children with Down syndrome: endoscopic findings. Pediatr Pulm 36:137–141

    Article  Google Scholar 

  23. 23.

    Scuderi A, Harnsberg H, Boyer R (1993) Pneumatization of the paranasal sinuses: normal features of importance to the accurate interpretation of CT scans and MR images. AJR 160:1101–1104

    CAS  PubMed  Article  Google Scholar 

  24. 24.

    Cleland J, Wood S, Hardcastle W, Wishart J, Timmins C (2010) Relationship between speech, oromotor, language and cognitive abilities in children with Down’s syndrome. Int J Lang Commun Disord 45:83–95

    PubMed  Article  Google Scholar 

  25. 25.

    Ann Xue S, Kaine L, Ng ML (2010) Quantification of vocal tract configuration of older children with Down syndrome: a pilot study. Int J Pediatr otorhinolaryngol 74:378–383

    Article  Google Scholar 

  26. 26.

    Moura CP, Cunha LM, Vilarinho H, Cunha MJ, Freitas D, Palha M, Pueschel SM, Pais-Clemente M (2006) Voice parameters in children with Down syndrome. J Voice 22(1):34–42

    PubMed  Article  Google Scholar 

  27. 27.

    Lopez-Perez R, Borges-Yáñez SA, Lopez-Morales P (2007) Anterior open bite and speech disorders in children with Down syndrome. Angle Orthod 78(2):221–227

    Article  Google Scholar 

  28. 28.

    Uong EC, Jeffe DB, Gozal D, Arens R, Holbrook CR, Palmer J, Cleveland C et al (2005) Development of a measure of knowledge and attitudes about obstructive sleep apnea in children (OSAKA-KIDS). Arch Pediatr Adolesc Med 159:181–196

    PubMed  Article  Google Scholar 

  29. 29.

    Keller-Bell Y, Fox RA (2007) A Preliminary study of speech discrimination in youth with Down syndrome. Clin Linguist Phon 21(4):305–317

    PubMed  Article  Google Scholar 

  30. 30.

    Bhattarai B, KulkarniA H, Kalingarayar S, Upadya MP (2009) Anesthetic management of a child with Down’s syndrome having atlantoaxial instability. J Nepal Med Assoc 173:66–69

    Google Scholar 

  31. 31.

    Zárate N, Mearin F, Hidalgo A, Malagelada JR (2001) Prospective evaluation of esophageal motor dysfunction in Down’s syndrome. Am J Gastroenterol 96(6):1718–1724

    PubMed  Article  Google Scholar 

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The authors declare no conflict of interest.

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Correspondence to Umayya Musharrafieh.

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Ramia, M., Musharrafieh, U., Khaddage, W. et al. Revisiting Down syndrome from the ENT perspective: review of literature and recommendations. Eur Arch Otorhinolaryngol 271, 863–869 (2014). https://doi.org/10.1007/s00405-013-2563-4

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Keywords

  • Down syndrome
  • Ear
  • Nose
  • Throat
  • Pharynx
  • Speech
  • Otolaryngology