Causes Risk Factors Treatments And Prevention Of Down Syndrome

The cause of Down syndrome is one of three types of abnormal cell division concerning the 21st chromosome. These abnormalities result in extra genetic material, which causes the characteristic features and signs of Down syndrome. The three causes are called Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. These are the only factors that can cause Down syndrome.

Trisomy 21 causes more than 90% of all cases of Down syndrome and begins in the early stages of cell division between the sperm and the egg cells. In the case of Trisomy 21, the child has three copies of chromosome 21 in all of his or her cells rather than the usually two copies – one from the mother and one from the father. In the case of Mosaic Down syndrome, the child has three copies of the 21st chromosome in some cells but not all of them. This rare type of Down syndrome begins in cell division after fertilization occurs. Occasionally at conception, part of the 21st chromosome can become attached or translocated onto another chromosome. The child has the normal two copies of chromosome 21 with additional genetic material stuck onto the translocated chromosome. This is the rarest cause of Down syndrome and can be passed on to the infant from the parent who is carrying the translocated chromosome.

Down syndrome is not inherited. It is cause by a mistake during cell division only. There are risk factors; however, that can increase the chance of an infant being born with Down syndrome. The biggest risk factor is advanced maternal age. This is a risk factor because as a woman's eggs age there is more of a chance that their cells will divide improperly. Another risk factor is if the mother has another child with Down syndrome. Previous Down syndrome pregnancies increase the chances the mother will have subsequent infants with Down syndrome. The final risk factor comes from the parents who are carriers of the translocated 21st chromosome. Both men and women can pass the genetic translocation on to their children.

There is no medical treatment for Down syndrome that will provide a cure. Most infants will benefit from early medical intervention for the many health problems and physical impairments that can occur in Down syndrome. The infant will more than likely need medical intervention from a cardiologist, an internist or gastroenterologist, and an audiologist. Many developmental specialists are also necessary including physical therapists, occupational therapists, and speech and language specialists. Children with Down syndrome do usually meet their developmental milestones but they do so at a slower pace than most children.

There is not a way to prevent Down syndrome. Before becoming pregnant, women who are over the age of 35 or who already have one child with Down syndrome can benefit from visiting a genetic counselor. This type of counselor can help determine the chances of having a child with Down syndrome as well as the prenatal tests that will be performed to determine whether the infant has the syndrome.

Recommended Reading

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