Rethinking Otorhinolaryngologic Care Pathways in Children with Down Syndrome: A Multidisciplinary Framework for Early Diagnosis and Management

TL;DR

This paper reviews ENT disorders in children with Down syndrome and proposes a multidisciplinary care framework for early diagnosis and better management.

Contribution

The paper introduces a multidisciplinary framework to improve ENT care pathways for children with Down syndrome.

Findings

Most studies focused on hearing loss, chronic otitis media, and sleep-disordered breathing in children with Down syndrome.

Early audiologic and polysomnographic screening was emphasized as critical for timely intervention.

Gaps in standardized and accessible multidisciplinary ENT care for children with Down syndrome were consistently reported.

Abstract

Background: Children with Down syndrome (DS) are at high risk for a broad spectrum of otorhinolaryngologic (ENT) disorders, including hearing impairment, obstructive sleep apnea (OSA), dysphagia, and language delay. These conditions often coexist and interact with the neurodevelopmental and anatomical features of DS, requiring early identification and coordinated management. Despite the clinical burden, ENT involvement in DS remains under-characterized and inconsistently addressed in care pathways. Methods: A narrative review was conducted to provide an integrative overview of ENT manifestations in pediatric patients with DS. A literature search was performed in PubMed, Scopus, and Web of Science, covering studies published between 1979 and 2025. Articles were included if they addressed ENT disorders in children with DS and met clinical relevance criteria. A total of 45 studies were selected and analysed by study design, focus, and contribution to diagnostic or therapeutic frameworks. Results: The majority of included studies were observational in nature, covering key domains such as conductive hearing loss, chronic otitis media with effusion, sleep-disordered breathing, and feeding/swallowing dysfunction. Several articles emphasized the importance of early audiologic and polysomnographic screening. Gaps in standardization and accessibility of multidisciplinary ENT care were consistently reported. A proposed framework for integrated evaluation is discussed. Conclusions: ENT manifestations in pediatric DS are frequent, multifactorial, and clinically impactful. A multidisciplinary, anticipatory model of care is essential for timely diagnosis and targeted intervention. This review highlights the need to formalize ENT pathways within comprehensive care protocols for children with DS.

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