Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Down syndrome is a lifelong condition. But with care and support, children who have Down syndrome can grow up to have healthy, happy, productive lives. Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.
Symptoms: Decreased muscle tone at birth, Excess skin at the nape of the neck, Flattened nose, Separated joints between the bones of the skull (sutures), Single crease in the palm of the hand, Small ears, Small mouth, Upward slanting eyes, Wide, short hands with short fingers, White spots on the colored part of the eye (Brushfield spots)
Diagnosis: Screening tests, such as an ultrasound or a blood test during first or second trimester. These can help show if the developing baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results. Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about Down syndrome.
Treatment: There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. However, many infants with Down syndrome can successfully breast-feed. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined. Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.Statistics include the proportion of Down's syndrome detected prenatally for women <38 years of age increased ninefold; from 9.5% (95% CI 2.7–22.6) in 1981 to 84.9% (95% CI 74.6–92.2) in 2000. For women >38 years of age, the increase was 1.5-fold. The live birth prevalence of Down's syndrome decreased by 3% per year (prevalence ratio 0.97, 95% CI 0.96–0.99); the age-adjusted decrease was 13%. The analysis by period showed that the decrease in live birth prevalence of Down's syndrome was greater after 1988.