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REVIEW article
Front. Pediatr.
Sec. Pediatric Pulmonology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1553984
This article is part of the Research Topic Impaired function of the respiratory pump Volume 2 View all 3 articles
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Down syndrome (DS), or Trisomy 21, is a common inherited chromosomal disorder, caused by an extra copy of chromosome 21, with an incidence of approximately 1 in 800 births [1]. The common features of individuals with DS, first described by John Langdon Down in 1866 [2], are delayed psychomotor development, intellectual disability, and hypotonia. Their characteristic physical features include brachycephaly, a flattened nasal bridge, mandibular and maxillary hypoplasia, relative macroglossia, and a narrow nasopharyngeal region [3]. The typical medical comorbidities include congenital defects of the heart,; gastrointestinal tract abnormalities such as duodenal atresia and tracheoesophageal fistula,; airway abnormalities, such as laryngomalacia and tracheomalacia,; coeliac disease,; hearing and vision disorders,; hypothyroidism,; obesity; and obstructive sleep apnoea (OSA) [4]. In this article we will review the respiratory and airway co-morbidities associated with DS, highlighting the current gaps in the literature and suggesting future directions for research.
Keywords: Normal, Indent: Left: 0.63 cm, No bullets or numbering, Down Syndrome, airway, Sleep disordered breathing, immunodeficiency, GORD
Received: 31 Dec 2024; Accepted: 17 Feb 2025.
Copyright: © 2025 Craven, Daw, Wan and Elphick. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Heather E Elphick, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
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