Pediatric Down Syndrome

What are the signs of Down syndrome?

Every child with Down syndrome is a unique individual. There are some physical characteristics that children with Down syndrome may have in common, including:

• Low muscle tone
• Small stature
• An upward slant to the eyes
• A single horizontal crease across the center of the palm instead of multiple creases

Children with Down syndrome may possess these characteristics to different degrees, or not at all.

Signs and symptoms of Down syndrome during pregnancy

The pregnant parent won’t feel or notice symptoms that could indicate their baby has Down syndrome. Imaging experts may look for certain signs of Down syndrome, such as extra fluid on the back of the neck, during an ultrasound.

What tests are used to diagnose Down syndrome?

Doctors can diagnose Down syndrome before or after birth. A prenatal (before birth) genetic counselor or geneticist can give you the most accurate information about the likelihood of having a baby with Down syndrome.

Screening before birth

• Prenatal tests can screen for the potential of Down syndrome during the first and second trimester. This includes cell-free DNA tests and certain blood or serum tests.

Diagnostic testing before birth

• Our doctors can only confirm a diagnosis of Down syndrome prenatally through a test called amniocentesis or chorionic villus sampling.  

Testing after birth

• If parents don’t have prenatal testing, providers most often notice Down syndrome at birth or shortly thereafter.
• Physical characteristics alone are not enough for a diagnosis.
• At Children’s Colorado, we use high-resolution chromosome testing to diagnose Down syndrome after birth. This test will show the number of total chromosomes and can detect an extra copy of the 21^st chromosome to determine if translocation Down Syndrome is present.

What should I do after a Down syndrome diagnosis?

In addition to providing a wide range of services for children and adolescents with Down syndrome, the Sie Center for Down Syndrome offers prenatal consultations for families who have received a prenatal diagnosis of Down syndrome. During this prenatal visit, our physician and social worker can:

• Answer questions about Down syndrome
• Provide accurate information about medical and developmental outcomes
• Provide resources such as support groups, early intervention and education
• Explain the services available at the Sie Center, including long-term support

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

How is Down syndrome treated?

The Sie Center for Down Syndrome at Children’s Colorado has a team of experts including doctors, therapists, mental and behavioral health providers, social workers, education specialists and more.

Treatment for Down syndrome looks different for every child, but here are some things you might expect:

• Children with Down syndrome need labs and other screenings to look for changes in thyroid and iron levels, and to detect celiac disease.
• Developmental therapies and specialized education plans may help children with Down syndrome learn and grow.
• Some children with Down syndrome need medications for issues like thyroid disease, sleep apnea, seizures and constipation.
• Some medical problems, like congenital heart defects, require surgery.

Why choose us for Down syndrome treatment?

The Sie Center for Down Syndrome is one of the most comprehensive programs for children with Down syndrome across the globe.

We partner with two leading programs to improve the lives of children with Down syndrome through world-class medical care and research.

• The Linda Crnic Institute for Down Syndrome at the University of Colorado, an academic center devoted to Down syndrome research
• The Global Down Syndrome Foundation, a non-profit organization dedicated to fundraising and advocacy for Down syndrome research, medical care and education

Our partnership with these organizations allows us to bring the most advanced Down syndrome care to our patients sooner. We follow guidelines created by the American Academy of Pediatrics to deliver a personalized, team-based approach that meets the unique medical and developmental needs of every child.

Helpful resources

Visit our Down syndrome resources page for a full list of community programs, support groups and educational organizations for parents, families and patients.

For our detailed answers to frequently asked questions about Down syndrome in Children, visit our FAQ page.