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首页> 外文期刊>American journal of medical genetics, Part A >Prevalence of gastrointestinal symptoms in Angelman syndrome
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Prevalence of gastrointestinal symptoms in Angelman syndrome

机译：Angelman综合征中胃肠道症状的患病率

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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.
机译：Angelman综合征（AS）是一种神经源性疾病，其特征是智力残疾，表达言论障碍，运动障碍，癫痫和愉快的风度。由于经常据报道的儿童在婴儿期间是较差的饲养者，并且在其寿命期间具有胃肠道等胃肠道问题，例如便秘，反流和异常的食物相关行为。为了评估个体中胃肠疾病的患病率，我们回顾性地分析了在马萨诸塞州综合医院的Angelman综合征诊所诊所诊所所见的120人的病历，并在北卡罗来纳大学综合委社诊所看到的43人。大多数患者的病历表明至少有一种胃肠功能障碍症状，具有便秘和胃食管反流疾病（GERD）最常见。报告的其他胃肠道问题是循环呕吐发作，吞咽困难，过量吞咽和嗜酸性食管炎。上胃肠道症状如GERD，吞咽困难，循环呕吐和嗜酸性食道炎，在缺失和发单安的那些中更为常见，可能与多种基因和随后的低呼吸道的累积有关。便秘频率在所有遗传亚型中一致，而早期喂养问题似乎主要影响那些缺失的问题。护理人员和医疗保健提供者应该意识到这些问题的高度普及，因为适当的治疗可能不仅可以改善胃肠功能障碍，而且可以改善胃肠功能障碍，也可以睡眠和行为问题。

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