Comisi Francesco Fabrizio, Esposito Elena, Savasta Salvatore
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A.Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09121 Cagliari, Italy.
J Clin Med. 2025 Jun 1;14(11):3889. doi: 10.3390/jcm14113889.
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. 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. 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. 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.
唐氏综合征（DS）患儿患广泛的耳鼻咽喉科（ENT）疾病的风险很高，包括听力障碍、阻塞性睡眠呼吸暂停（OSA）、吞咽困难和语言发育迟缓。这些病症常常并存，并与DS的神经发育和解剖特征相互作用，需要早期识别和协调管理。尽管存在临床负担，但ENT在DS中的表现仍未得到充分描述，在护理路径中也未得到一致处理。进行了一项叙述性综述，以全面概述DS患儿的ENT表现。在PubMed、Scopus和科学网进行了文献检索，涵盖1979年至2025年发表的研究。如果文章涉及DS患儿的ENT疾病并符合临床相关性标准，则纳入研究。共选择了45项研究，并根据研究设计、重点以及对诊断或治疗框架的贡献进行了分析。纳入的大多数研究本质上是观察性的，涵盖了诸如传导性听力损失、慢性分泌性中耳炎、睡眠呼吸障碍和喂养/吞咽功能障碍等关键领域。几篇文章强调了早期听力和多导睡眠图筛查的重要性。多学科ENT护理的标准化和可及性方面的差距一直被报道。讨论了一个综合评估的提议框架。小儿DS中的ENT表现很常见、多因素且具有临床影响。多学科的预期护理模式对于及时诊断和有针对性的干预至关重要。本综述强调了在DS患儿的综合护理方案中规范ENT路径的必要性。
