DOWN SYNDROME

Down syndrome is a combination of physical abnormalities and mental retardation characterized by a genetic defect in chromosome pair 21.

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother. Down syndrome is caused by three types of abnormal cell division involving the 21st chromosome. All three abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include:

Trisomy 21. More than 90 percent of cases of Down syndrome are caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell. Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization. Translocation Down syndrome. Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. Children with translocation Down syndrome have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. This form of Down syndrome is uncommon.

There are no known behavioral or environmental factors that cause Down syndrome. Is it inherited? Most cases of Down syndrome aren't inherited. They're caused by a mistake in cell division during the development of the egg, sperm or embryo. Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. And only about half of these cases are inherited from one of the parents. In these cases, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra

a new study supports the use of other screening methods from the 11th to 14th week of pregnancy. The doctor uses ultrasound to measure a specific region on the back of a baby's neck. Some parents have a greater risk of having a baby with Down syndrome. However. Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). there's a greater inclination for chromosomes to divide improperly. a woman who has one child with Down syndrome has about a 1 percent chance of having another child with Down syndrome. Arbitrarily. If the mother is the carrier. Typically. This is known as a nuchal translucency screening test. the risk if about 3 percent. These include:  Advancing maternal age. but he or she can pass the translocation on to children. Although these tests are still available.genetic material. most children with Down syndrome are actually born to women under age 35 because this younger group of women has far more babies. The chance of passing on the translocation depends on the sex of the parent who carries the rearranged chromosome 21:   If the father is the carrier. age 35 is usually considered the threshold of concern.  DIAGNOSTIC TEST Screening tests during pregnancy Various screening tests can help identify whether your baby has an increased possibility of Down syndrome. First-trimester screening for Down syndrome is done in two parts:  Ultrasound. Mothers who already have one child with Down syndrome.  . Blood tests. So a woman's chances of giving birth to a child with Down syndrome increase with age. A balanced carrier has no signs or symptoms of Down syndrome. the risk is about 12 percent. Babies with certain abnormalities tend to accumulate more fluid in this tissue than otherwise expected. Traditionally. screening blood tests — such as the quad screen or the maternal serum alpha-fetoprotein (MSAFP) test — were offered around the 16th week of pregnancy. As a woman's eggs age.

the initial diagnosis of Down syndrome is often based on the baby's appearance. . Diagnostic tests that can identify Down syndrome include:  Amniocentesis. Doctors usually perform this test after 15 weeks of gestation. Doctors generally perform this test after 18 weeks of gestation. Blood is taken from a vein in the umbilical cord and examined for chromosomal defects.When this two-step screening is done during the 11th week of pregnancy. the diagnosis is Down syndrome. keep in mind that screening tests of any type aren't fool-proof. Cells taken from the mother's placenta can be used to analyze the fetal chromosomes. Chorionic villus sampling (CVS). accuracy of this two-step approach drops to 82 percent — about the same as traditional second-trimester blood tests. They simply give you a better idea of your baby's likelihood of having Down syndrome. This test is an analysis of your child's chromosomes. researchers say it can identify 87 percent of babies with Down syndrome. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. Typically performed between the ninth and 14th week of pregnancy. The test carries a risk of miscarriage of one in 200. That means that about one in 20 women will have a false-positive result with any of these screening tests — far more than those who have a baby with a chromosomal abnormality. Percutaneous umbilical blood sampling (PUBS). This sample is then used to analyze the chromosomes of the fetus.   Each of these three tests is 98 percent to 99 percent accurate in diagnosing Down syndrome before birth. this test is only done when speed of diagnosis is essential. It's also important to remember that all of these tests have a 5 percent falsepositive rate. If there's an extra chromosome 21 present in all or some of the cells. This test carries a greater risk of miscarriage than does amniocentesis or chorionic villus sampling. your doctor will probably order a test called a chromosomal karyotype. Diagnostic tests during pregnancy If your screening tests are positive or worrisome or you're at high risk of having a baby with Down syndrome. Generally. Although the statistics are high. Diagnostic tests for newborns After birth. If your child displays some or all of the characteristics of Down syndrome. By 13 weeks. this test carries a risk of miscarriage of one in 100. you might consider further testing to confirm the diagnosis.

so a physical therapist can help your baby learn to roll over. a baby born with Down syndrome often didn't live to age 10. Meanwhile. sit up and walk. starting in infancy. speech pathologist. Treatment There's no medical cure for Down syndrome. These heart problems can be life-threatening and may require surgery in early infancy. Ask your doctor about early intervention programs in your area. Dementia. such as heart defects. someone with Down syndrome can expect to live to 50 and beyond. you'll likely become acquainted with a team of doctors that may include a pediatric cardiologist. But children with Down syndrome do benefit from medical help and early interventions. motor and cognitive activities — are . Signs and symptoms of dementia often appear before age 40 in people with Down syndrome. a gastroenterologist. Today. occupational therapist and others. Later in life.Children with Down syndrome can have a range of complications. including gastrointestinal blockage. kids with Down syndrome are much more susceptible to infectious diseases. In 1929. hearing loss or poor vision. If your child has Down syndrome. hand coordination and language skills. depending on the severity of his or her health problems. babies with Down syndrome don't have good muscle tone.     Life spans have increased dramatically for people with Down syndrome. Other problems. Because of abnormalities in their immune systems. their risk of contracting pneumonia is much higher than that of children without this disorder. Down syndrome may also be associated with a variety of other health conditions. people with Down syndrome have a greatly increased risk of dementia. This age continues to rise because of early interventions and better care. a speech pathologist or occupational therapist may help with feeding. Infectious diseases. These specialized programs — in which children with Down syndrome are stimulated at an early age with appropriate sensory. Leukemia. Approximately 50 percent of children with Down syndrome are born with some type of heart defect. a developmental pediatrician and other specialists. gastrointestinal problems and hearing problems. Young children with Down syndrome are more likely to develop leukemia than are children who don't have Down syndrome. These specialists can help your child develop skills as fully as possible. These include:  Heart defects. These doctors can detect and treat complications of Down syndrome. For example. thyroid problems. For example. Your child's care team may also include a physical therapist.

but they usually involve therapists and special educators whose goal is to help your baby develop motor skills. social skills and self-help skills.available in most states. children with Down syndrome usually meet developmental milestones. but it usually takes them a little longer than it does for children without Down syndrome. Programs vary from location to location. A genetic counselor can help you understand your chances of having a child with Down syndrome. language. . early intervention programs. crawl. you may wish to consult a genetic counselor before becoming pregnant. Prevention There's no way to prevent Down syndrome. children with Down syndrome may take twice as long to sit. In general. He or she can also explain the prenatal tests you will be offered and help you figure out the pros and cons of testing for your particular situation. started as soon as possible. walk or say a first word. However. if you are at high risk of having a child with Down syndrome or you already have one child with Down syndrome. However. seem to give kids with Down syndrome the best chance of success. For example.