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Abstract：
BACKGROUND: Patients with Down syndrome (DS) are at risk for sleep disorder breathing (SDB) due to their abnormal craniofacial anatomy, hypotonia, and propensity for obesity. The prevalence and severity of SDB in this population vary between different cohorts due to the multifactorial nature of these patients and the different diagnostic criteria used. We aim to report the prevalence and severity of SDB in the DS population in Qatar.
METHODS: This study is a retrospective review of all patients with genetically confirmed DS who completed a diagnostic polysomnography (PSG) study at Sidra Medicine in Doha, Qatar, which is the only pediatric sleep center in the country, between September 2019 and July 2022. Clinical and PSG data were collected from the patients\' electronic medical records. Central and obstructive events were scored according to the American Academy of Sleep Medicine (AASM) criteria. Obstructive sleep apnea (OSA) diagnosis was made based on apnea-hypopnea index (AHI) and defined as AHI >1.5 events/hour. OSA was considered mild if AHI was ≥ 1.5 but < 5, moderate if AHI was ≥ 5 but < 10, and severe if AHI was ≥ 10 events/hour. Diagnosis with central apnea was considered if the central apnea index was > 5 events/hour. Hypoventilation was considered present if end-tidal/transcutaneous carbon dioxide gas was more than 50 mmHg for more than 25% of total sleep time. Multiple regression analysis was performed to evaluate predictors of high AHI and rapid eye movement (REM)-AHI.
RESULTS: A total of 80 patients (49 males and 31 females) were included. Median (range) age was 7.3 years (0.9, 21). The mean (range) BMI z-score was 1.7 (-1.3, 4.3). Sixty-five patients were diagnosed with OSA, with a prevalence rate of 81%. OSA was mild in 25 (38.5%) patients, moderate in 15 (23.1%) patients, and severe in 25 (38.5%) patients. Only one patient was diagnosed with central apnea and five patients (6.9%) with alveolar hypoventilation. Multiple regression analysis showed BMI (P = 0.007) and snoring/apnea symptoms (P=0.023) to be predictive of high AHI. No correlation was found between the same variables and REM-AHI. Treatments used for OSA included anti-inflammatory medications in 37 (46%) patients, tonsillectomy/adenoidectomy in 13 (16.5%) patients, and positive airway pressure support in 10 (15%) patients.
CONCLUSIONS: Our patient population with DS had a high prevalence of OSA comparable to other reported cohorts. High BMI and symptoms of snoring are predictive of OSA.
METHODS: This study is a retrospective review of all patients with genetically confirmed DS who completed a diagnostic polysomnography (PSG) study at Sidra Medicine in Doha, Qatar, which is the only pediatric sleep center in the country, between September 2019 and July 2022. Clinical and PSG data were collected from the patients\' electronic medical records. Central and obstructive events were scored according to the American Academy of Sleep Medicine (AASM) criteria. Obstructive sleep apnea (OSA) diagnosis was made based on apnea-hypopnea index (AHI) and defined as AHI >1.5 events/hour. OSA was considered mild if AHI was ≥ 1.5 but < 5, moderate if AHI was ≥ 5 but < 10, and severe if AHI was ≥ 10 events/hour. Diagnosis with central apnea was considered if the central apnea index was > 5 events/hour. Hypoventilation was considered present if end-tidal/transcutaneous carbon dioxide gas was more than 50 mmHg for more than 25% of total sleep time. Multiple regression analysis was performed to evaluate predictors of high AHI and rapid eye movement (REM)-AHI.
RESULTS: A total of 80 patients (49 males and 31 females) were included. Median (range) age was 7.3 years (0.9, 21). The mean (range) BMI z-score was 1.7 (-1.3, 4.3). Sixty-five patients were diagnosed with OSA, with a prevalence rate of 81%. OSA was mild in 25 (38.5%) patients, moderate in 15 (23.1%) patients, and severe in 25 (38.5%) patients. Only one patient was diagnosed with central apnea and five patients (6.9%) with alveolar hypoventilation. Multiple regression analysis showed BMI (P = 0.007) and snoring/apnea symptoms (P=0.023) to be predictive of high AHI. No correlation was found between the same variables and REM-AHI. Treatments used for OSA included anti-inflammatory medications in 37 (46%) patients, tonsillectomy/adenoidectomy in 13 (16.5%) patients, and positive airway pressure support in 10 (15%) patients.
CONCLUSIONS: Our patient population with DS had a high prevalence of OSA comparable to other reported cohorts. High BMI and symptoms of snoring are predictive of OSA.
摘要：
背景：唐氏综合征（DS）患者由于颅面解剖异常而面临睡眠呼吸障碍（SDB）的风险，低张力,和肥胖倾向。由于这些患者的多因素性质和所使用的不同诊断标准，该人群中SDB的患病率和严重程度在不同队列之间有所不同。我们旨在报告卡塔尔DS人群中SDB的患病率和严重程度。
方法：本研究是对在多哈的SidraMedicine完成诊断多导睡眠图（PSG）研究的所有经遗传证实的DS患者的回顾性研究，卡塔尔,这是全国唯一的儿科睡眠中心，2019年9月至2022年7月。从患者的电子病历中收集临床和PSG数据。根据美国睡眠医学学会（AASM）标准对中枢和阻塞性事件进行评分。阻塞性睡眠呼吸暂停(OSA)诊断基于呼吸暂停低通气指数(AHI),并定义为AHI>1.5事件/小时。如果AHI≥1.5但<5，则OSA为轻度，如果AHI≥5但<10，则为中度，如果AHI≥10事件/小时，则为重度。如果中枢呼吸暂停指数>5个事件/小时，则考虑诊断为中枢呼吸暂停。如果潮气末/经皮二氧化碳气体超过50mmHg，占总睡眠时间的25％以上，则认为存在通气不足。进行多元回归分析以评估高AHI和快速眼动（REM）-AHI的预测因子。
结果：共纳入80例患者（男性49例，女性31例）。中位（范围）年龄为7.3岁（0.9，21）。平均（范围）BMIz评分为1.7（-1.3，4.3）。65名患者被诊断为OSA，患病率为81%。25例(38.5%)患者OSA轻度,15例(23.1%)患者中度，25例（38.5％）患者严重。只有一名患者被诊断为中枢神经性呼吸暂停，五名患者（6.9％）被诊断为肺泡通气不足。多元回归分析显示，BMI（P=0.007）和打鼾/呼吸暂停症状（P=0.023）是高AHI的预测因素。在相同的变量和REM-AHI之间没有发现相关性。用于OSA的治疗包括37例（46％）患者的抗炎药，扁桃体切除术/腺样体切除术13例（16.5%），10例（15％）患者的气道正压支持。
结论：我们的DS患者人群的OSA患病率高于其他报道的人群。高BMI和打鼾症状可预测OSA。
方法：本研究是对在多哈的SidraMedicine完成诊断多导睡眠图（PSG）研究的所有经遗传证实的DS患者的回顾性研究，卡塔尔,这是全国唯一的儿科睡眠中心，2019年9月至2022年7月。从患者的电子病历中收集临床和PSG数据。根据美国睡眠医学学会（AASM）标准对中枢和阻塞性事件进行评分。阻塞性睡眠呼吸暂停(OSA)诊断基于呼吸暂停低通气指数(AHI),并定义为AHI>1.5事件/小时。如果AHI≥1.5但<5，则OSA为轻度，如果AHI≥5但<10，则为中度，如果AHI≥10事件/小时，则为重度。如果中枢呼吸暂停指数>5个事件/小时，则考虑诊断为中枢呼吸暂停。如果潮气末/经皮二氧化碳气体超过50mmHg，占总睡眠时间的25％以上，则认为存在通气不足。进行多元回归分析以评估高AHI和快速眼动（REM）-AHI的预测因子。
结果：共纳入80例患者（男性49例，女性31例）。中位（范围）年龄为7.3岁（0.9，21）。平均（范围）BMIz评分为1.7（-1.3，4.3）。65名患者被诊断为OSA，患病率为81%。25例(38.5%)患者OSA轻度,15例(23.1%)患者中度，25例（38.5％）患者严重。只有一名患者被诊断为中枢神经性呼吸暂停，五名患者（6.9％）被诊断为肺泡通气不足。多元回归分析显示，BMI（P=0.007）和打鼾/呼吸暂停症状（P=0.023）是高AHI的预测因素。在相同的变量和REM-AHI之间没有发现相关性。用于OSA的治疗包括37例（46％）患者的抗炎药，扁桃体切除术/腺样体切除术13例（16.5%），10例（15％）患者的气道正压支持。
结论：我们的DS患者人群的OSA患病率高于其他报道的人群。高BMI和打鼾症状可预测OSA。
