Abstract：
Williams syndrome (WS) is a multi-system condition caused by the deletion of 25-27 coding genes on human chromosome 7. Irritability, gastrointestinal (GI) reflux and slow growth are commonly reported in infants with WS, but less data exist regarding GI concerns in older children and adults with the condition. This study evaluates 62 individuals with WS (31 children aged 3-17, and 31 adults aged 18-62) as well as 36 pediatric and adult controls to assess current and historical rates of common GI symptoms. Data were evaluated using a regression model including age, sex, self-reported race, and diagnosis. Symptoms including food intolerance, reflux, dysphagia, choking/gagging, vomiting, constipation, bloating, diarrhea, hematochezia, rectal prolapse, abdominal pain, and weight loss are more common in those with WS relative to controls. In addition, people with WS utilize more GI medications, specialty care, procedures, and supplemental feeds. Among those with WS, symptoms were present at similar rates in children and adults, except for diverticular disease, which was not noted until adulthood. GI symptoms are frequent in people with WS and serve as a significant source of morbidity.
摘要：
威廉姆斯综合征（WS）是由人类7号染色体上25-27个编码基因缺失引起的多系统疾病。易怒,胃肠道（GI）反流和缓慢的生长是常见的婴儿WS，但是关于年龄较大的儿童和患有该病的成人的胃肠道问题的数据较少。这项研究评估了62名WS患者（31名3-17岁的儿童和31名18-62岁的成年人）以及36名儿科和成人对照，以评估常见胃肠道症状的当前和历史发生率。使用回归模型评估数据，包括年龄，性别,自我报告的种族，和诊断。症状包括食物不耐受，反流,吞咽困难,窒息/呕吐，呕吐,便秘,腹胀,腹泻,便血,直肠脱垂,腹痛,与对照组相比，WS患者的体重减轻更为常见。此外,患有WS的人使用更多的GI药物，专业护理，程序,和补充饲料。在那些有WS的人中，儿童和成人的症状发生率相似，除了憩室病,直到成年后才被注意到。在WS患者中，胃肠道症状很常见，并且是发病率的重要来源。
