Glassman Laura W, Grocott Olivia R, Kunz Portia A, Larson Anna M, Zella Garrett, Ganguli Kriston, Thibert Ronald L
Tufts University School of Medicine, Boston, Massachusetts.
Department of Neurology, Angelman Syndrome Clinic, Massachusetts General Hospital, Boston, Massachusetts.
Am J Med Genet A. 2017 Oct;173(10):2703-2709. doi: 10.1002/ajmg.a.38401. Epub 2017 Aug 16.
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the University of North Carolina Comprehensive Angelman Clinic. The majority of patients' medical records indicated at least one symptom of gastrointestinal dysfunction, with constipation and gastroesophageal reflux disease (GERD) the most common. Other gastrointestinal issues reported were cyclic vomiting episodes, difficulty swallowing, excessive swallowing, and eosinophilic esophagitis. Upper gastrointestinal symptoms such as GERD, swallowing difficulties, cyclic vomiting, and eosinophilic esophagitis were more common in those with deletions and uniparental disomy, likely related to the involvement of multiple genes and subsequent hypotonia. The frequency of constipation is consistent among all genetic subtypes while early feeding issues appear to mainly affect those with deletions. Caregivers and healthcare providers should be aware of the high prevalence of these issues, as proper treatment may improve not only gastrointestinal dysfunction but also sleep and behavioral issues.
安吉尔曼综合征（AS）是一种神经遗传性疾病，其特征为智力残疾、表达性言语障碍、运动障碍、癫痫以及愉快的举止。经常有报道称，患有AS的儿童在婴儿期喂养困难，并且在其一生中都存在胃肠道问题，如便秘、反流和与食物相关的异常行为。为了评估AS患者胃肠道疾病的患病率，我们回顾性分析了在马萨诸塞州总医院安吉尔曼综合征诊所就诊的120例患者以及在北卡罗来纳大学综合安吉尔曼诊所就诊的43例患者的病历。大多数患者的病历显示至少有一种胃肠道功能障碍症状，其中便秘和胃食管反流病（GERD）最为常见。报告的其他胃肠道问题包括周期性呕吐发作、吞咽困难、过度吞咽和嗜酸性食管炎。GERD、吞咽困难、周期性呕吐和嗜酸性食管炎等上消化道症状在缺失和单亲二体型患者中更为常见，这可能与多个基因的参与以及随后的肌张力减退有关。便秘的发生率在所有基因亚型中是一致的，而早期喂养问题似乎主要影响缺失型患者。护理人员和医疗服务提供者应意识到这些问题的高发生率，因为适当的治疗不仅可以改善胃肠道功能障碍，还可以改善睡眠和行为问题。
