Frequently Asked Questions About Down Syndrome in Children

Down syndrome is a genetic condition that impacts over 250,000 people in the United States. At Children’s Hospital Colorado, we support children with Down syndrome and their families through the Anna and John J. Sie Center, which focuses on the medical and developmental care of Down syndrome.

Our world-class specialty clinic was built specifically for children with Down syndrome in mind. We use a multidisciplinary approach to address all the needs of children with Down syndrome. The Sie Center works closely with all departments within our hospital so referrals for other specialty doctors and departments can be made and addressed quickly. By providing a variety of specialized care for children with Down syndrome, we ease the burden of doctor visits and provide a safe environment to address all your child’s needs.

The following information addresses common questions asked by patients, parents and referring physicians and researchers.

How common is Down syndrome in children?

Down syndrome is the most common chromosomal condition. It's also the leading worldwide cause of intellectual and developmental delays in children. In the United States, approximately 6,000 babies are born with Down syndrome every year.

If your baby has received a Down syndrome diagnosis, you aren't alone. There are many national and community resources you can turn to for support.

Is Down syndrome genetic?

Yes, Down syndrome is a genetic disorder. Abnormal cell division leads to an extra full or partial copy of chromosome 21. The extra genetic material can cause various medical and developmental issues.

Is Down syndrome inherited?

In most cases, Down syndrome is not an inherited condition. It develops because of an error during fetal cell division.

But, it is possible for a child to inherit translocation Down syndrome. This occurs when a parent's chromosomes have rearranged genetic material.

What is the risk of having a baby with Down syndrome?

Down syndrome can occur regardless of age, ethnicity and socioeconomic status. The risk of Down syndrome increases as the mother’s age at the time of pregnancy increases.

Women 35 years or older are at higher risk of having a child with Down syndrome. Risk also increases if:

• One parent is a carrier of the genetic translocation for Down syndrome.
• A parent already has one child with Down syndrome.

Meeting with a genetic counselor is the best way for parents to assess risk factors.

What is the Down syndrome screening process?

At Children’s Colorado, we use high-resolution chromosome testing to diagnose Down syndrome. The test uses blood or tissue cells to create a visual representation of chromosomes. The doctor will look at the size, number and shape of the baby's chromosomes.

There are also several non-invasive prenatal tests to screen for Down syndrome. Amniocentesis or chorionic villi sampling both detect fetal abnormalities during pregnancy.

What prenatal counseling services does the Sie Center offer?

If you have a prenatal Down syndrome diagnosis and would like to learn more, the Sie Center can help. Request an appointment with Francis Hickey, MD, and our social workers to learn more.

During this informal appointment, our team will:

• Answer your questions about Down syndrome.
• Provide accurate information about medical and developmental outcomes.
• Connect you to resources, including parent support groups, early intervention and educational support.
• Explain the services available within the Sie Center, including long-term support.

This consultation should not replace recommendations from your obstetrician or perinatologist. Please continue to follow any prenatal care or genetic counseling recommendations they have given you.

How is Down syndrome identified in newborns?

Down syndrome is most often noticed at birth or shortly thereafter. Physical characteristics alone aren't enough for a diagnosis, though. Chromosome testing will confirm concerns and provide a firm diagnosis.

What are the physical characteristics of Down syndrome?

Physical characteristics alone are not a diagnosis of Down syndrome. But, children with Down syndrome often share physical similarities. These traits include low muscle tone, small stature and upward slanting eyes. A single deep crease across the palm and wide, short hands with short fingers are also common.

A baby’s physical features do not mean they have Down syndrome. Physicians use chromosome testing to make a diagnosis.

It is important to remember that every child with Down syndrome is a unique individual. Children may have these physical characteristics to different degrees, or not at all.

What are the different types of Down syndrome?

There are three types of Down syndrome. Each type impacts the body's chromosomes. Chromosomes contain the genetic information that tells our body how to grow.

• Trisomy 21, or nondisjunction, accounts for 95% of Down syndrome cases. It happens when an extra copy of chromosome 21 is present in all cells of the body.
• Translocation Down syndrome impacts about 4% of affected babies. It is the only type of Down syndrome that can be inherited from a parent. The baby will have three copies of chromosome 21, but one attaches to another chromosome. In trisomy 21, the extra copy is separate. To assess risk, parents can consult with a genetic counselor or geneticist.
• Mosaic Down syndrome accounts for about 1% of Down syndrome cases. It happens when an extra copy of chromosome 21 is present in some, but not all, of the body’s cells. This type of Down syndrome results from a random event shortly after the egg and sperm join together. When cells are dividing, some cells receive an extra copy of chromosome 21. Other cells have two copies.

What are some of the medical concerns in children with Down syndrome?

Children with Down syndrome have an increased risk for certain medical conditions. They include congenital heart defects, respiratory problems, hearing/vision problems and thyroid conditions.

Many of these conditions are successfully managed with medication and expert medical care. At Children's Colorado, our physician, nurse practitioner and other specialists help families.

A wide range of cognitive delays are also common in Down syndrome. Developmental intervention is crucial. Appropriate school placement and accommodations to help each child learn are also important. This maximizes the child’s innate strengths and talents.

What is the Down syndrome life expectancy for a child?

The average life expectancy for a child with Down syndrome has increased dramatically. In the 1920s, the average life span for a child was nine years. Now, the average life expectancy is approximately 60 years.

What kind of quality of life can a child with Down syndrome expect?

Quality of life for people with Down syndrome has also improved. Early medical care and developmental intervention are crucial. With support, people with Down syndrome live rich lives full of meaningful experiences. Some adults even develop the skills to live on their own and maintain a job.

To lead fulfilling and productive lives, people with Down syndrome need certain things. Good healthcare, quality educational programs and a stimulating home environment are vital. Loving support from family, friends and the community are also important. Each factor will help a person with Down syndrome lead a fulfilling and productive life.

The Sie Center for Down Syndrome at Children’s Colorado has a team of medical experts who offer support. Therapists, a psychologist, psychiatrist, social worker and an education specialist help families thrive. We strive to optimize health, development and quality of life for children.