Wilson Benjamin, Jones Kyle Bradford, Weedon Dean, Bilder Deborah
Neuro Behavioral Home Program, 650 Komas Drive Suite 200, Salt Lake City, UT 84108.
Neuro Behavioral Home Program, 650 Komas Drive Suite 200, Salt Lake City, UT 84108,
FP Essent. 2015 Dec;439:20-5.
Down syndrome (DS) is a genetic disorder involving excess genetic material from chromosome 21. The incidence of DS is increasing, and the life expectancy for individuals with DS has increased to a median age of 55 years. Adults with DS are at increased risk of several conditions, including significant neurologic, cardiovascular, pulmonary, gastrointestinal, musculoskeletal, endocrine, psychiatric, hematologic, and social comorbidities, and additional screening or monitoring may be needed. Additional preventive measures for patients with DS include regular screening for thyroid dysfunction, hearing loss, eye disorders, heart disease, osteoporosis, and dementia, and one-time vaccination with the polyvalent pneumococcal polysaccharide vaccine (PPV23). Quality of life should be the main focus of treatment, with patients being involved in medical decisions as much as possible.
唐氏综合征(DS)是一种涉及21号染色体多余遗传物质的遗传性疾病。唐氏综合征的发病率正在上升,唐氏综合征患者的预期寿命已提高到中位年龄55岁。患有唐氏综合征的成年人患多种疾病的风险增加,包括严重的神经、心血管、肺部、胃肠道、肌肉骨骼、内分泌、精神、血液学和社会合并症,可能需要额外的筛查或监测。针对唐氏综合征患者的其他预防措施包括定期筛查甲状腺功能障碍、听力损失、眼部疾病、心脏病、骨质疏松症和痴呆症,以及接种一次多价肺炎球菌多糖疫苗(PPV23)。生活质量应是治疗的主要重点,患者应尽可能参与医疗决策。