Craven V E, Daw W J, Wan J W Y, Elphick H E
Department of Respiratory Medicine, Sheffield Children's Hospital, Sheffield, United Kingdom.
Front Pediatr. 2025 Mar 13;13:1553984. doi: 10.3389/fped.2025.1553984. eCollection 2025.
Down Syndrome (DS), or Trisomy 21, is a common inherited chromosomal disorder, caused by an extra copy of chromosome 21, with features including intellectual disability, hearing and vision disorders, hypotonia, hypothyroidism, cardiac and gastrointestinal structural abnormalities. The characteristic features of flattened nasal bridge, mandibular and maxillary hypoplasia, relative macroglossia, and a narrow nasopharyngeal region all predispose to airway complications and structural abnormalities can extend to the lower airways and lung parenchyma. Congenital airway stenoses and malacia are present in around 1.5% children with DS and in 20% of these, there are multiple anomalies. Structural lung abnormalities include reduced alveolar numbers and altered lung architecture. The prevalence of pulmonary hypertension is a significantly increased, estimated to affect 5-10%, and increases if congenital or gastrointestinal co-morbidities are also present. The association of DS with hypotonia, increased oral secretions, gastrointestinal reflux and aspiration and obesity increase the morbidity associated with these anatomical variants contributing to poor airway clearance and increased risk of respiratory tract infections. In addition, it is been recognised that the increased risk of infections (particularly of the respiratory tract) as well as autoimmune disorders and haematological malignancies suggest a level of immunodeficiency and immune dysregulation. The anatomical features of DS predispose children to the development of sleep disordered breathing (SDB) in addition to adenotonsillar hypertrophy, the primary cause in children. Treatment options include surgery, non-invasive ventilation, and anti-inflammatory medications. Emerging techniques include drug-induced sleep endoscopy (DISE), a useful tool for assessment of the upper airway in children with OSA and to identify the additional sites of airway obstruction that may be present in DS and hypoglossal nerve stimulation for individuals resistant other treatments.
唐氏综合征（DS），即21三体综合征，是一种常见的遗传性染色体疾病，由21号染色体多一份拷贝引起，其特征包括智力残疾、听力和视力障碍、肌张力减退、甲状腺功能减退、心脏和胃肠道结构异常。鼻梁扁平、下颌和上颌发育不全、相对巨舌症以及鼻咽区域狭窄等特征均易引发气道并发症，结构异常可延伸至下气道和肺实质。约1.5%的唐氏综合征患儿存在先天性气道狭窄和软化，其中20%有多种异常。肺部结构异常包括肺泡数量减少和肺结构改变。肺动脉高压的患病率显著增加，估计影响5% - 10%，如果同时存在先天性或胃肠道合并症，患病率会更高。唐氏综合征与肌张力减退、胃肠反流和误吸以及肥胖相关，增加了与这些解剖变异相关的发病率，导致气道清除不良和呼吸道感染风险增加。此外，人们认识到感染风险增加（尤其是呼吸道感染）以及自身免疫性疾病和血液系统恶性肿瘤表明存在一定程度的免疫缺陷和免疫失调。除了儿童睡眠呼吸障碍（SDB）的主要原因腺样体扁桃体肥大外，唐氏综合征的解剖特征还使儿童易患睡眠呼吸障碍。治疗选择包括手术、无创通气和抗炎药物。新兴技术包括药物诱导睡眠内镜检查（DISE），这是评估阻塞性睡眠呼吸暂停（OSA）患儿上气道以及识别唐氏综合征患儿可能存在的其他气道阻塞部位的有用工具，还有针对其他治疗无效个体的舌下神经刺激。
