Understanding Down Syndrome: Causes, Diagnosis, and Prevalence

Dr. Brian DuMais, Dr. Megan Dwyer, and Dr. Liz Dahlberg see young patients with Down syndrome at DuMais Pediatrics in Orland Park, IL. They can help you understand Down syndrome if you are concerned about a child or loved one and connect you with the right resources to help them lead a healthy and fulfilling life.

What Causes Down Syndrome? 

Also called Trisomy 21, Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. This affects overall brain and body development, resulting in various intellectual and physical disabilities. 

Some common Down syndrome markers include a flattened facial profile (especially the bridge of the nose), short stature, and almond-shaped, slanted eyes. Many people with Down syndrome are considered mildly or moderately intellectually disabled with a lower IQ (between 50 and 60) and experience delayed developmental milestones like speech problems and motor skills difficulties. These symptoms vary widely from person to person. 

People with Down syndrome are predisposed to specific health conditions like heart defects, sleep apnea, hearing loss, and Alzheimer's. Despite these extra risks, we see more people with Down syndrome living longer and even independently with the right support. 

How Is Down Syndrome Diagnosed? 

A screening test can help the mother and provider determine if a pregnancy is at higher risk of Down syndrome. Screenings can be a blood test for the mother or an ultrasound of the baby. Screenings cannot determine a diagnosis but are a noninvasive risk assessment. 

Diagnostic tests are ordered after a positive screening test. Your doctor can extract amniotic fluid, blood from the umbilical cord, or material from the placenta to look for chromosomal abnormalities. 

How Common Is Down Syndrome? 

Down syndrome is one of the most common genetic disorders in the U.S. The CDC reports that one in 700 babies is diagnosed with Down syndrome. A diagnosis of Down syndrome worries any parent about their child, but early diagnosis and intervention can impact their intellectual and physical development. 

In the U.S., people with Down syndrome must receive free public education. With healthcare providers and family support, many patients with Down syndrome lead long, healthy lives. According to The Global Down Syndrome Foundation, the average lifespan of a person with Down syndrome is 60. If your child needs support, we can connect you with the right resources, including occupational, speech, and physical therapies. 

Get Support Now 

If your child has Down syndrome in Orland Park, IL, maintain a close relationship with your pediatrician and see them at least annually. To make an appointment with Dr. DuMais, Dr. Dwyer, or Dr. Dahlberg in Orland Park, IL, contact DuMais Pediatrics at (708) 364-1600.