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唐氏综合征患者的阻塞性睡眠呼吸暂停:当前观点

Obstructive sleep apnea in patients with Down syndrome: current perspectives.

作者信息

Simpson Ryne, Oyekan Anthony A, Ehsan Zarmina, Ingram David G

机构信息

Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA,

School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA,

出版信息

Nat Sci Sleep. 2018 Sep 13;10:287-293. doi: 10.2147/NSS.S154723. eCollection 2018.

Abstract

For individuals with Down syndrome (DS), obstructive sleep apnea (OSA) is a complex disorder with significant clinical consequences. OSA is seen frequently in DS, and when present, it tends to be more severe. This increased prevalence is likely related to common anatomic abnormalities and a greater risk of additional comorbidities such as hypotonia and obesity. Because signs and symptoms do not often correlate with disease, all children and adults with DS should receive routine screening for OSA. Similar to the general population, polysomnography remains the gold standard for diagnosis. Because individuals with DS may be more susceptible to cardiovascular and neurocognitive sequelae, early diagnosis and treatment of OSA is becoming increasingly important. Treatment options generally involve upper airway surgery (primarily adenotonsillectomy) and continuous positive airway pressure (CPAP); however, various adjunctive therapies including intranasal steroids, palatal expansion, and oropharyngeal exercises are also available. Residual disease status post adenotonsillectomy is common, and further evaluation (eg, drug-induced sleep endoscopy [DISE]) is often needed. More advanced and directed airway surgery can be performed if additional sites of obstruction are observed. Novel therapies including hypoglossal nerve stimulation are emerging as effective treatments for refractory OSA. Due to the diversity among individuals with DS, personalized treatment plans should be developed. Within this arena, opportunities for research remain abundant and should include areas involving patient risk factors, alternative diagnostic methods, and outcome analysis.

摘要

对于唐氏综合征(DS)患者而言,阻塞性睡眠呼吸暂停(OSA)是一种具有重大临床后果的复杂疾病。OSA在DS患者中很常见,一旦出现,往往更为严重。这种患病率的增加可能与常见的解剖学异常以及诸如肌张力减退和肥胖等其他合并症的更高风险有关。由于体征和症状通常与疾病不相关,所有DS儿童和成人都应接受OSA的常规筛查。与普通人群一样,多导睡眠图仍然是诊断的金标准。由于DS患者可能更容易出现心血管和神经认知后遗症,OSA的早期诊断和治疗变得越来越重要。治疗选择通常包括上气道手术(主要是腺样体扁桃体切除术)和持续气道正压通气(CPAP);然而,也有各种辅助治疗方法,包括鼻内类固醇、腭扩张和口咽锻炼。腺样体扁桃体切除术后残留疾病状态很常见,通常需要进一步评估(例如,药物诱导睡眠内镜检查[DISE])。如果观察到其他阻塞部位,可以进行更先进、更有针对性的气道手术。包括舌下神经刺激在内的新型疗法正在成为治疗难治性OSA的有效方法。由于DS患者个体差异较大,应制定个性化的治疗方案。在这个领域,研究机会仍然很多,应该包括涉及患者风险因素、替代诊断方法和结果分析等领域。

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