Observing signs of down syndrome

October has been designated Down syndrome Awareness Month, but NOT to raise awareness of the symptoms and disabilities associated with the condition, as is the case with most "awareness" months. Instead, the National Down Syndrome Society (NDSS) has chosen October to make the general public more aware of the ABILITIES of people with Down syndrome, dispel stereotypes and provide accurate information. The Medical Society of the State of New York has joined this campaign as part of its ongoing effort to encourage New Yorkers to accept people with physical differences and to include them in their work and social environments.

Down syndrome (DS) occurs when a baby is born with three copies of chromosome 21, rather than two. The extra genetic material changes the course of development and causes the characteristics associated with DS. One in every 733 babies is born with DS, according to the NDSS. More than 350,000 people in the United States have DS. The chance of giving birth to a child with DS increases with the age of the mother. Women over 35 have a one in 400 chance of having a child with DS; this increases to one in 110 by age 40 and one in 35 by age 45. Yet, because more women under 35 give birth, 80 percent of children with DS are born to women under age 35.

The syndrome is named after John Langdon Down, an English physician who in 1866 published a scholarly work accurately describing the condition. Certain physical characteristics at birth are associated with Down syndrome but may also be present in babies without DS; therefore, a chromosomal analysis must be done to confirm a diagnosis of DS. Although all individuals with DS differ from each other, physical traits common to many are:

* Low muscle tone

* Small stature

* Upward slant to the eyes

* Single deep crease across the center of the palm

* Less often: Large tongue in relationship to the size of the mouth, slightly flattened facial profile, abnormal shape of the ear

Individuals with DS also have a higher incidence of certain medical problems, including congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, leukemia and thyroid conditions. Many of these conditions are treatable, and most people with DS lead healthy lives. The life expectancy of people with DS has increased dramatically, from 25 in 1983 to 56 today.

Research is making progress in identifying the genes on chromosome 21 that cause the characteristics of DS, and some scientists have said that they strongly believe that it will someday be possible to prevent or correct many of the problems associated with DS.

All people with DS experience cognitive delays, but their degree of mental retardation is usually in the mild to moderate range. Applying knowledge learned from modern research has enabled the medical community and educators to greatly improve the quality of life, relative to the past, of people with SB and their families. Now those with DS can usually live fulfilling lives if given a stimulating home environment, quality educational programs, good healthcare and positive support from family, friends and the community. Many are able to attend neighborhood schools, graduate from high school and college, obtain gainful employment, participate in community social and recreational activities, and live independently.

Researchers working with the genes on Chromosome 21 are hopeful that they can someday develop ways to further reduce the problems associated with SD and maybe even be able to prevent them.

To raise funds for this research and education, and increase awareness of the need to include and accept individuals with Down syndrome, the NDSS sponsors one-mile Buddy Walks all across America in the fall. Some have already taken place this year, but more are scheduled in New York State. To find the nearest Buddy Walk site and date, visit the website www.buddywalk.org or call 800-221-4602.

For additional information about Down syndrome, visit the website of the National Down Syndrome Society at www.ndss.org.