What is Down Syndrome?

Down Syndrome is the commonly used name to refer to Trisomy 21. Trisomy 21, or Down syndrome, is a condition in which an individual has an extra copy of the 21st chromosome.

 

Down Syndrome is the commonly used name to refer to Trisomy 21. Trisomy 21, or Down syndrome, is a condition in which an individual has an extra copy of the 21st chromosome.

There are 3 types of Down syndrome.

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. In this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of two copies.

Translocation Down Syndrome: About 3% of people with Down syndrome have this type. This occurs when part or a whole extra chromosome 21 is present but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.

Mosaic Down Syndrome: About 2% of people with Down syndrome have this type. Mosaic means there is a mixture of two types of cells. In this type, some of the individual’s cells have 3 copies of chromosome 21 but other cells have the typical 2 copies. Individuals with this type of Down syndrome may have the same features as others with Down Syndrome. However, they may have fewer characteristics due to the varied number of cells with 3 copies of chromosome 21.

Each year about 5,100 babies born in the US have Down syndrome. According to the latest numbers from the CDC, it occurs at a rate of about 1 in 772 babies. In Virginia it is estimated that about 123 babies are born annually with Down Syndrome. Down syndrome remains the most common chromosomal condition in the US.

There is no specific cause of Down syndrome that is known. There is no definitive research linking DS with environmental factors or parental behaviors prior to or during pregnancy. DS occurs among people of all races and economic levels. The only known factor linked with an increased chance of having a baby with Down syndrome is maternal age. Even so, since the birth rate is higher in younger women, 80% of all children with Down syndrome are born to women under 35 years of age.

Down syndrome is a lifelong condition. Babies born with Down syndrome (DS) will grow and develop like all other babies, but at a slower pace. Additionally, children with DS benefit from extra support, practice, and tools in supporting their development since they may be delayed in achieving milestones such as walking, talking, and eating compared to neurotypical children. Early Intervention is recommended for all children with Down syndrome. Individuals with Down syndrome have varying degrees of cognitive ability, usually the effect is mild to moderate. Many children with Down syndrome participate in regular education classrooms, though they may need extra help or modifications. With special education and community programs, more people with Down syndrome graduate from high school, attend college and work in their communities.

Children with Down Syndrome may have an increased risk for certain medical conditions such as congenital heart deficits, respiratory problems, hearing loss, vision problems, sleep apnea, childhood leukemia, thyroid conditions, and Alzheimer’s disease. However, many of these conditions are treatable, and people with DS are living longer and healthier lives! The life expectancy for people with Down syndrome has increased drastically in the last 40 years from 25 in 1983 to 60 and older today!

We know that receiving a DS diagnosis prenatally or at birth can bring a flood of emotions and questions and be an overwhelming time for your family. The Virginia Down Syndrome Association is here to support you and your family no matter where you are on this journey. We have professionals and parents of children with DS that are ready to welcome you to our community, answer your questions, and tell you about the programs and services that can support you at this time.

We would love to welcome you into our community.

The Virginia Down Syndrome Association offers individual and family support, education, social programs, scholarships, and much more to individuals with Down syndrome of all ages and their family members. Our programs include First Call, social groups for all ages, early education classes, Learning program, summer employment academy, junior volunteer academy, education webinars and classes, holiday celebrations and more!

We also have an extensive Resource library in our office full of materials available to be checked out to members to learn more on a variety of topics. For more information on our programs and upcoming events please visit our calendar.

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