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Down Syndrome

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Down syndrome is a condition caused by extra genetic material that often leads to mental retardation. The symptoms of Down syndrome vary widely: Some kids need frequent medical attention while others eventually can lead healthy and independent lives; many become vibrant, productive members of society.

The syndrome affects roughly one in 800 babies born. It cannot be prevented, but it can be detected before birth.

Prenatal Screening and Diagnosis


Screening tests can estimate the risk that your baby has Down syndrome, while diagnostic tests can determine whether he or she actually has the condition. Screening is noninvasive and painless, so it is typically the first step. If the screening indicates you are at greater risk to bear a baby with Down syndrome, the next step is to undergo diagnostic tests, which are greater than 99 percent accurate.

Because diagnostic tests, such as amniocentesis, carry a small risk of miscarriage and other complications, they generally are recommended only for women 35 and older or those with a family history of genetic defects. If screening indicates an increased risk, a doctor often will give a woman the choice of undergoing diagnostic tests.

What Causes Down Syndrome and What Are the Odds of My Baby Developing It?


A baby inherits 23 chromosomes from its mother and 23 from its father. In the case of Down syndrome, the baby typically inherits an extra chromosome, which causes physical and cognitive delays. Doctors know that women over 35 have significantly higher risk of having their babies develop it. Thirty-year-old women have a 1-in-1,000 chance of bearing a Down syndrome baby, while the odds increase to 1 in 400 above age 35. By age 42, it jumps to 1 in 60.

What Should I Expect If My Baby Has It?


Kids with Down syndrome tend to have a flat facial profile, upward slanting eyes, small ears, an enlarged tongue and broad, short fingers. A doctor typically can tell if a newborn has the condition with a physical exam.

A lack of muscle tone often is associated with the syndrome and Down syndrome children tend to grow at a slower rate. Toddlers and older kids often learn to speak, feed themselves, and dress more slowly. Most have moderate mental retardation and IQ ranges from 25-70, but most kids with Down syndrome do learn and are capable of caring for themselves throughout their lives.

Medical Problems


Half of the children born with the syndrome have congenital heart defects. Often they are prone to pulmonary hypertension. Roughly half of Down syndrome kids also have problems hearing and seeing. Thyroid problems, intestinal abnormalities, seizures and respiratory problems are also risks associated with the condition. Children with Downs Syndrome also have an increased change of developing leukemia.

Getting Help


Many parents with Down syndrome children feel overwhelmed early on. Meeting other parents with similar kids can be a relief and may help parents deal with the initial shock, worry and grief. Some parents also find that gathering as much information as they can helps them understand the syndrome and thus fear it less.

Speech and physical therapists can help early on in the child's development. Once your child is 3 years old, he or she can claim educational services under the Individuals with Disabilities Education Act (IDEA). Local schools must provide extra services for free.

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