Abstract The case of a 32-year-old woman with Down syndrome (DS) with new-onset abnormal vocalizations as a manifestation of gastroesophageal reflux disease (GERD) is described highlighting the clinical features, differential diagnosis, work-up, results, and treatment course. A broad differential diagnosis, including the contribution of common medical co-morbidities, should be considered in patients with DS and other neurodevelopmental disorders presenting with new-onset abnormal vocalizations. This is especially important for patients with impaired communicative and cognitive ability that may have difficulty describing physical pain and/or emotional distress.

中文翻译：

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唐氏综合症成年女性新发异常发声

摘要 描述了一名患有唐氏综合症 (DS) 的 32 岁女性，以新发异常发声作为胃食管反流病 (GERD) 的表现，突出了临床特征、鉴别诊断、检查、结果和疗程。对于 DS 和其他出现新发异常发声的神经发育障碍患者，应考虑广泛的鉴别诊断，包括常见医学合并症的贡献。这对于可能难以描述身体疼痛和/或情绪困扰的沟通和认知能力受损的患者尤其重要。