Revisiting Down syndrome from the ENT perspective: review of literature and recommendations (original) (raw)

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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Down Syndrome

Chapter © 2025

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

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Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Family Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    Maria Ramia, Umayya Musharrafieh, Wajdi Khaddage & Alain Sabri
  2. Department of Otolaryngology Head and Neck Surgery, American University of Beirut Medical Center, Beirut, Lebanon
    Alain Sabri

Authors

  1. Maria Ramia
  2. Umayya Musharrafieh
  3. Wajdi Khaddage
  4. Alain Sabri

Corresponding author

Correspondence toUmayya 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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