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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Obstructive sleep apnea
Bone-anchored hearing aid
Acoustic brain response
Continuous positive airway pressure
Functional endoscopic sinus surgery
Tonsillectomy and adenoidectomy
Body mass index
Gastroesophageal reflux disease
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
Davidson MA (2008) Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am 55:1099–1111
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
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
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
Shott S (2006) Down syndrome: common otolaryngologic manifestations. Am J Med Genet C 42C:131–140
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
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
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
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
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
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
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
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
Merrel JA, Shott SR (2007) OSAS in Down syndrome: T&A versus T&A plus lateral pharyngoplasty. Int J Pediatr Otorhinolaryngol 71:1197–1203
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
Miloro M (2010) Mandibular distraction osteogenesis. J Oral Maxillofac Surg 68:1512–1523
Mitchell RB, Call E, Kelly J (2003) Diagnosis and therapy for airway obstruction in children with Down syndrome. Arch Otolaryngol 129:642–645
Mitchell RB, Call E, Kelly J (2003) Ear, nose and throat disorders in children with Down syndrome. Laryngoscope 113:259–263
Bravo MN, Kaul A, Rutter MJ, Elluru RJ (2006) Down syndrome and complete tracheal rings. J Pediatr 148:392–395
Meitzner MC, Skurnowicz JA (2005) Anesthetic considerations for patients with Down syndrome. AANA 73(2):103–107
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
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
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
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
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
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
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
Keller-Bell Y, Fox RA (2007) A Preliminary study of speech discrimination in youth with Down syndrome. Clin Linguist Phon 21(4):305–317
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
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
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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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