Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue Cincinnati, Cincinnati, OH, 45229, USA.
Internal Medicine, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.
Dysphagia. 2023 Dec;38(6):1589-1597. doi: 10.1007/s00455-023-10586-x. Epub 2023 May 12.
Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely utilized. The aim of this study was to describe and correlate pharyngeal and esophageal manometry findings with contrast studies and endoscopy in patients with Down syndrome and dysphagia. Electronic medical records of patients with Down syndrome with dysphagia seen at our center between January 2008 and January 2022 were reviewed. Data collected included demographics, co-morbidities, symptoms, imaging, endoscopy, and manometry. Twenty-four patients with Down syndrome [median age of 14.9 years (IQR 7.6, 20.5), 20.8% female] met inclusion criteria. Common presenting symptoms of dysphagia included vomiting or regurgitation in 15 (62.5%) patients, and choking, gagging, or retching in 10 (41.7%) patients. Esophageal manometry was abnormal in 18/22 (81.2%) patients. The most common findings were ineffective esophageal motility in 9 (40.9%) followed by esophageal aperistalsis in 8 (36.4%) patients. Rumination pattern was noted in 5 (22.8%) patients. All 6 (25%) patients who previously had fundoplication had esophageal dysmotility. Strong agreement was noted between upper gastrointestinal studies and high-resolution esophageal manometry (p = 1.0) but no agreement was found between pharyngeal manometry and video fluoroscopic swallow studies (p = 0.041). High-resolution pharyngeal and esophageal manometry provide complementary objective data that may be critical in tailoring therapeutic strategies for managing patients with Down syndrome with dysphagia.
吞咽困难是唐氏综合征儿童的常见症状，通常通过影像学和内镜进行评估；高分辨率测压法未常规应用。本研究旨在描述和分析唐氏综合征伴吞咽困难患者的咽食管测压结果，并与对比研究和内镜检查结果相关联。我们回顾了 2008 年 1 月至 2022 年 1 月期间在本中心就诊的唐氏综合征伴吞咽困难患者的电子病历。收集的数据包括人口统计学、合并症、症状、影像学、内镜和测压结果。24 例唐氏综合征患者[中位数年龄 14.9 岁（IQR 7.6，20.5），20.8%为女性]符合纳入标准。吞咽困难的常见表现包括呕吐或反流 15 例（62.5%），呛咳、哽噎或干呕 10 例（41.7%）。22 例患者中有 18 例（81.2%）食管测压异常。最常见的发现是无效食管动力 9 例（40.9%），食管蠕动不全 8 例（36.4%）。5 例（22.8%）患者存在反刍模式。6 例（25%）曾行胃底折叠术的患者存在食管动力障碍。上消化道研究与高分辨率食管测压之间具有高度一致性（p=1.0），但咽测压与视频荧光吞咽研究之间无一致性（p=0.041）。高分辨率咽食管测压可提供补充性客观数据，这对于制定唐氏综合征伴吞咽困难患者的治疗策略可能至关重要。
