Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups. Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21." Find out more about Down's here.
Finding out at birth
Most of the time, the occurrence of Down syndrome is due to a random event that occurred during formation of the reproductive cells, the ovum or sperm. As far as we know, Down syndrome is not attributable to any behavioral activity of the parents or environmental factors. The probability that another child with Down syndrome will be born in a subsequent pregnancy is about 1 percent, regardless of maternal age.

A newborn baby with Down syndrome often has physical features the attending physician will most likely recognize in the delivery room. These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. However, a child with Down syndrome may not possess all of these features; some of these features can even be found in the general population.

To confirm the diagnosis, the doctor will request a blood test called a chromosomal karyotype. This involves "growing" the cells from the baby's blood for about two weeks, followed by a microscopic visualization of the chromosomes to determine if extra material from chromosome 21 is present.

The doctor making the initial diagnosis of Down syndrome has no way of knowing the intellectual or physical capabilities this child, or any other child, may have. Children and adults with Down syndrome have a wide range of abilities. A person with Down syndrome may be very healthy or they may present unusual and demanding medical and social problems at virtually every stage of life. However, every person with Down syndrome is a unique individual, and not all people with Down syndrome will develop all the medical complications associated with this disorder.

Down's and the newborn
Babies with Down syndrome often have hypotonia, or poor muscle tone. Because they have a reduced muscle tone and a protruding tongue, feeding babies with Down syndrome usually takes longer. Mothers breastfeeding infants with Down syndrome should seek advice from an expert on breastfeeding to make sure the baby is getting sufficient nutrition.

Hypotonia may affect the muscles of the digestive system, in which case constipation may be a problem. Atlantoaxial instability, a malformation of the upper part of the spine located under the base of the skull, is present in some individuals with Down syndrome. This condition can cause spinal cord compression if it is not treated properly.

Medical care for infants with Down syndrome should include the same well-baby care that other children receive.

When parents are told that their newborn baby has Down syndrome, it is not unusual for them to have feelings of sadness and disappointment. Many parents report that at the time their child is first diagnosed with Down syndrome and during the weeks that follow, they feel overwhelmed by feelings of loss and anxiety. While caring for a child with Down syndrome frequently requires more time and energy, parents of newborn children with Down syndrome should seek the advice of a knowledgeable pediatrician and/or the many Down syndrome support groups and organizations


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