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.
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