Down Syndrome

Resulting from triplication of all or a portion of chromosome 21, Down syndrome is the most common identifiable genetic cause of intellectual and developmental disability. Down syndrome occurs in 1/700–1/1000 live births and affects approximately 150,000 persons in the United States. Down syndrome is characterized by intellectual disability ranging from mild to profound and results in an increased risk of congenital and acquired conditions in most organ systems. Adult care is complicated by multiple comorbid conditions in the setting of accelerated aging. Due to dramatic improvements in their medical care during early childhood and routine surgical correction of congenital heart conditions, persons with Down syndrome now live well into adulthood with a median life expectancy into their mid-50s. Consequently, the care of adults with Down syndrome is a rapidly growing field requiring increased attention from adult primary care providers.