Down Syndrome Clinic

Down Syndrome Clinic

If your child has Down syndrome, they may face a number of health issues that require care from various specialists over several years. At the Down Syndrome Clinic at OSF HealthCare Children’s Hospital of Illinois, we’ve enhanced the quality of Down syndrome care while also making the process easier for you and your child.

A collaboration with University of Illinois College of Medicine Peoria, the Down Syndrome Clinic is the only center of its kind in Illinois outside of Chicago.

What is Down syndrome?

Down syndrome is one of the most common genetic disorders, and it affects about one in 700 babies born each year in the United States. It causes various birth defects, health issues, physical features and learning difficulties. The severity of these issues varies from child to child.
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What to Expect at the First Appointment

Before your child’s first appointment, our nurse navigator will contact you to gather information to share with our team of specialists, including but not limited to:

  • Previous testing or therapy your child has undergone (if not done at OSF Children’s Hospital)
  • Individualized education program (IEP) and/or 504 plans from your child’s school (if applicable)

At the appointment, you and your child will meet with our experts who will share their assessment of your child’s health and recommendations for other testing, medication, therapies, nutrition and referrals. You will also get to share any concerns and ask any questions you may have.

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Meet Your Care Team

Our multidisciplinary Down syndrome team includes doctors and other specialists in:

  • Cardiology
  • Developmental pediatrics
  • Endocrinology
  • Pulmonology
  • Dietary and nutritional guidance
  • Occupational therapy
  • Physical therapy
  • Speech therapy 
  • Social services and counseling
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Types of Down Syndrome

There are three types of Down syndrome:

  • Trisomy 21: This is the most common type, and it accounts for 95% of all cases of Down syndrome. It occurs when a person has three copies of chromosome 21 instead of the typical two copies.
  • Translocation: This is the only form of Down syndrome that may be inherited from a parent. It occurs when an additional full or partial copy of chromosome 21 is attached to a different chromosome. It occurs in 3-4% of cases.
  • Mosaic: This is the rarest type, and it occurs in about 1% of people with Down syndrome. In this case, only some cells in the body have an extra copy of chromosome 21, and the rest of the cells are typical.

There are no significant differences between the features and health problems experienced by people who have trisomy 21 and translocation Down syndrome. However, people with mosaic Down syndrome may have fewer of these characteristics and problems.

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Ask for a Referral

If you have a child with Down syndrome, contact your child’s primary care provider or specialist about a referral to the Down Syndrome Clinic. If your child doesn’t have a primary care provider, you can find one near you in our provider directory.

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