Down syndrome

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. The parents of the affected individual are usually genetically normal. The incidence of the syndrome increases with the age of the mother, from less than 0.1% for 20-year-old mothers to 3% for those of age 45. It is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Three different genetic forms have been identified. The most common, trisomy 21, involves an extra copy of chromosome 21 in all cells. The extra chromosome is provided at conception as the egg and sperm combine. Translocation Down syndrome involves attachment of extra chromosome 21 material. In 1–2% of cases, the additional chromosome is added in the embryo stage and only affects some of the cells in the body; this is known as mosaic Down syndrome. Down syndrome can be identified during pregnancy by prenatal screening, followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often aborted (rates varying from 50 to 85% depending on maternal age, gestational age, and maternal race/ethnicity). There is no cure for Down syndrome. Education and proper care have been shown to provide better quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education. Some individuals with Down syndrome graduate from high school, and a few attend post-secondary education. In adulthood, about 20% in the United States do some paid work, with many requiring a sheltered work environment. Caregiver support in financial and...