Down Syndrome Metabolic Health Study

Baseball Fan with Down Syndrome

Why is it important?

Children with Down syndrome are more likely to have increased body fat compared to typically developing children and may be at increased risk for obesity-related health problems, such as diabetes and heart and blood vessel disease. How we define obesity in DS is not clear. The body mass index (BMI) that we usually use to define obesity in children may not provide accurate information about body fatness or related health risks in DS.

Through this study, we hope to learn more about how body composition relates to the risks of metabolic health issues in children with DS. This information may provide medical providers with the tools to better assess risk for, screen for, and help prevent these concerns in DS.

What does the study involve?

The study involves one research visit to either The Children's Hospital of Philadelphia (CHOP), in Philadelphia, PA or Children's National Medical Center (CNMC) in Washington, DC. A visit generally lasts from 8:00am until 3:30pm, with breaks throughout the day. You and your child will be compensated for your time.

The following procedures will be conducted during a research visit:

  • Fasting blood and urine samples — we will collect a lipid panel, thyroid levels and hemoglobin A1C
  • A DXA scan (an X-Ray that looks at bone, muscle, and fat mass)
  • Ultrasounds — limited echocardiogram and pulse-wave velocity
  • A physical exam done by one of our study physicians
  • Body measurements
  • Parent and child questionnaires
  • Oral Glucose Tolerance Test - in children who are overweight only

All clinically relevant results will be shared with you and, if you give us permission, your child's physician.

After the research visit:

  • Your child will wear a physical activity arm band (provided by the research team) for 7 days.
  • A nutritionist will contact you 3 times to record what your child has eaten in the past day.

Study participant is measured for height

Let's see if your child is eligible for our study!

If you would like more information, please take a look at our study flyer! You can download a PDF of it by clicking on the picture below:

  • Males and Females aged 10-20
  • Diagnosis of Down syndrome
  • Parental/Guardian permission (informed consent), and if appropriate, child assent
  • Major organ system illness (such as leukemia) except for Type I or II diabetes
  • Cyanotic congenital heart disease and/or pulmonary hypertension
  • Medically unstable congenital heart disease
  • Pregnancy
  • Genetic syndrome known to affect glucose tolerance
  • Familial hypercholesterolemia
  • Currently treated with medications known to affect insulin sensitivity or lipid proflles (statins, high dose vitamin A), or atypical antipsychotics

*Many factors are considered when determining an individual's eligibility, so while the above should serve as a general guideline, please contact the study team to review your child's eligibility in further detail and determine whether he or she is able to participate in the study.