Objectives: To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods: A national survey including 85 females, divided into a younger (1-20 years), a middle (21-35 years) and an older group (36-66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results: Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions: Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood.

中文翻译：

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患有瑞特综合征的成人的医疗问题-一项全国调查。

目的：研究具有瑞特综合症的女性人群的主要健康问题，重点关注36岁或以上的人群。方法：一项全国性调查，包括85名女性，分为年轻年龄段（1-20岁），中层年龄段（21-35岁）和较大年龄段（36-66岁）。数据包括临床检查，病历和父母访谈。比较了三组中六个主要医学问题（脊柱侧弯，移动，生长，呼吸，胃肠功能障碍和癫痫）的患病率和严重程度得分。结果：平均严重程度得分分别为11.8、15.1和13.7（从年轻到老年人），年轻和中型组之间的差异显着。没有观察到其他主要的显着患病率差异。结论：Rett综合征的大多数主要医学问题仍然是成年后的主要问题，但是健康似乎并未随着年龄的增长而下降。结果强调整个成人期都需要进行临床随访。