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Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre

Mohammad Nasyatmuddin Yahya1, Bee-See Goh1, Fahrin Zara Mohammad Nasseri1

  • 1Department of Otorhinolaryngology Head & Neck Surgery, University Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia.

Acta Oto-Laryngologica
|February 2, 2022
PubMed

Insights

Upper airway pathology is common in children with Down syndrome (DS), with laryngomalacia being the most frequent diagnosis. Early detection and intervention are crucial for managing these conditions effectively.

Area of Science:

  • Pediatric Otolaryngology
  • Genetics
  • Respiratory Medicine

Background:

  • Down syndrome (DS) is a genetic disorder caused by trisomy 21.
  • It affects approximately 1 in 792 births globally and 1 in 950 in Malaysia.
  • Children with DS have an increased risk of upper airway pathologies.

Purpose of the Study:

  • To determine the spectrum of upper airway pathologies in children with Down syndrome.
  • To investigate the prevalence, causes, and management of these conditions.
  • To highlight the importance of early diagnosis and treatment.

Main Methods:

  • A cross-sectional study was conducted on children under 18 with Down syndrome and signs of upper airway obstruction (UAO).
  • Diagnosis, management, and outcomes of UAO were documented.
  • Statistical analysis was performed to determine prevalence.

Main Results:

  • Twenty-two percent of the 91 recruited patients had significant noisy breathing, indicating UAO prevalence (p=.025).
  • Laryngomalacia (34.5%) was the most common pathology, followed by pediatric sleep-disordered breathing (24.1%).
  • Seven patients (7.7%) presented with respiratory distress, with most managed conservatively or surgically, showing good outcomes.

Conclusions:

  • Upper airway pathologies are prevalent in children with Down syndrome.
  • Laryngomalacia and pediatric sleep-disordered breathing are common findings.
  • Timely diagnosis and treatment of these anomalies are essential.
Abstract

Keywords:
Down syndromeUpper airwaypathologyspectrumtrachea

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