General Information About Down Syndrome
Down syndrome is a genetic condition caused the the presence of an extra chromosome, specifically the 21st chromosome. Instead of a pair of the 21st chromosome (one from each parent), an individual with Down syndrome has three. Down syndrome is named after the English doctor John Langdon Down, who first described the syndrome in 1866. It is also called "Trisomy 21," which describes the presence of that extra chromosome 21.
Chromosomes are tiny particles that are present in every cell of our bodies. They carry the blueprint for all of the characteristics we inherit from our parents. Chromosomes are present from conception, so the extra 21st chromosome is there from the beginning and the individual with Down syndrome is born with the condition.
A child with Down syndrome can be born to anyone, regardless of age, race, socio-economic status, or neighborhood. It is not know what causes Down syndrome and there is no way to prevent it. The only known association is maternal age -- there is a higher incidence of Down syndrome in mothers in their mid-thirties and older. Nevertheless, 80% of babies with Down syndrome are born to women under the age of 35 because although the chance of having a baby with Down syndrome is lower, the overall birth rate of women under 35 is higher. In the United States, approximately 1 in 733 babies is born with Down syndrome. In the Metropolitan Atlanta area, there are about 90 - 100 babies with Down syndrome born each year.
Nothing anyone does before or during pregnancy causes Down syndrome. All individuals with Down syndrome have that extra 21st chromosome. Researchers around the world are working to discover how that extra chromosome occurs and why it results in Down syndrome.
Advances in prenatal screening and diagnostic testing have resulted in many babies with Down syndrome being identified during the pregnancy. Whereas in the past prenatal testing was done primarily in mothers over the age of 35, today these tests have been recommended for all pregnant women. Because noninvasive tests have been developed that provide an earlier diagnosis, some expectant parents have chosen to terminate the pregnancy. DSAA believes that this is a couple's private decision, but our members, who are parents of children with Down syndrome, hope that this decision is made with up to date and balanced information, and not on the basis of outdated ideas about the potential of individuals with Down syndrome. Contrary to the opinions held by some, young adults with Down syndrome today live pretty mainstreamed lives -- seeking postsecondary education, working in the community at "real" jobs, living independently, worshiping in churches and synagogues, enjoying community recreational programs, and possibly getting married. Certainly there are individuals who are not doing as well as others, but there is no way to predict which individual with Down syndrome will be more successful than another. As one parent stated, "my child's birth was NOT a sad occasion -- I wish he didn't have Down syndrome, but he is wonderful just the way he is. I can't imagine my life without him in it."
Although it is becoming more common for a diagnosis to be made prenatally, there are still many babies born with Down syndrome who are first identified at birth. There are several characteristics associated with Down syndrome that often can be observed at birth. Low muscle tone and other physical features are the more obvious ones. Facial features associated with Down syndrome are variable but can include upslanting eyes, epicanthal folds (small folds of skin at the inside corners of the eyes), a small nose, a tongue that tends to protrude, and small ears. Babies with Down syndrome also often have an extra fold of skin on the back of the neck and single creases across one or both palms.
Every child is different, however, and a child with Down syndrome may or may not have these physical features. While there may be some characteristics that are shared with others who have Down syndrome, every child also shares features with his or her parents and siblings. Definitely all children with Down syndrome do not look alike!
In addition to some characteristic physical features, there are some medical problems that occur with greater frequency in children with Down syndrome. The more common ones include heart defects and/or abnormalities in the digestive track. Again, not all children with Down syndrome have heart or digestive problems and, even those who do can benefit from medical intervention. It is important that babies with Down syndrome are seen regularly for medical check ups so that any problem can be addressed early.
Approximately 40% - 50% of all babies with Down syndrome are born with a heart defect. Ten percent of infants with Down syndrome are born with a gastrointestinal abnormality. By following national healthcare guidelines, however, physicians can be alert to possible problems and refer the child to the appropriate specialists.
Down syndrome is often associated with developmental challenges. All individuals with Down syndrome do exhibit some degree of developmental delay -- these delays can be mild or moderate and can occur in any developmental area:
- Motor skills (gross motor delays in sitting, crawling, walking, and/or fine motor delays in feeding, playing with toys, holding a pencil)
- Cognitive delays (short term memory, problem solving skills)
- Speech/language delays (understanding speech and learning to talk)
Early intervention and improved medical care have resulted in great gains for most children with Down syndrome. While nobody can predict what the future may hold, the goal for children with Down syndrome, as for all children with disabilities, is to achieve the highest level of independence by adulthood. This is a realistic goal that can be met through teamwork and a plan for the future.
Some of the things that are important are good medical care, early intervention, and meeting other families of children with Down syndrome. There is a lot of information available, and definitely a lot on different internet sites. Exercise caution, however. There is no cure for Down syndrome and there is no easy short cut to success. It is easy to feel overwhelmed -- the best course is to slow down, find those you can trust, and take each day one by one.
While there may be many "down" sides to Down syndrome, there are many more "up" sides -- the vast majority of individuals with Down syndrome are delightfully social and upbeat and weave their way into your heart before you realize what is happening! Children with Down syndrome really are rare and special gifts.
