Down Syndrome Metabolic Health Study
Condition: Down Syndrome; Trisomy 21
MeSH terms: Down Syndrome; Syndrome; Trisomy
Study type: Observational

Summary: 
      The purpose of this research study is to determine which measures best capture cardiovascular
      disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down
      syndrome (DS).

      We hypothesize that DS is associated with worse cardiometabolic risk factors for a given body
      mass index compared to controls. This difference arises at least in part, from increased fat
      tissue.
    

Detailed description: 
      DS affects 1 per 800 births and is one of the most common causes of developmental disability
      in the US. Life expectancy for Down syndrome has increased significantly: estimated median
      survival in the US in 1997 was 49 years. DS is associated with an increased risk for obesity,
      with an estimated prevalence of 47-48% in adults and 30-50% in children with DS. Adolescents
      with DS are more likely to have increased adiposity compared to unaffected peers and may be
      at increased risk for obesity-related co-morbidities, such as type 2 diabetes and
      cardiovascular disease. How one defines obesity in DS is not clear. Individuals with DS have
      short stature and possibly increased adiposity, and the body mass index (BMI) used to define
      obesity for otherwise healthy populations may not accurately depict body fatness or capture
      cardiometabolic risk in DS.

      Congenital heart disease (CHD) affects approximately 50% of individuals with DS; the National
      Institutes of Health Heart Lung and Blood Institute (NHLBI) Working Group on Obesity and
      Other Cardiovascular Risk Factors in Congenital Heart Disease highlighted the high prevalence
      of obesity in the setting of CHD, and called for studies to identify obesity measures that
      are more sensitive than BMI as well as studies of CVD risk prevention. Unfortunately,
      clinicians caring for obese adolescents with DS with or without CHD have little scientific
      evidence upon which to base guidance regarding cardiometabolic risk (CMR): data regarding CVD
      risk and prevalence of pre-diabetes and T2DM in obese adolescents with DS are lacking.

      The measure of body fatness which best predicts CMR in DS is not known. We plan to compare
      BMI and other measures of body fatness in healthy controls and adolescents with DS to
      determine which measures best capture CVD and/or T2DM risk. These data will equip medical
      providers with the tools to better assess risk, initiate prevention measures, and guide
      screening in adolescents with DS.
    

Observational model: Case-Control
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        Participants will be recruited from primary care and speciality clinics, Trisomy 21 events,
        T21 interest groups, and referrals.
      
Biospecimen description: 
      Blood serum will be retained.
    
Keywords: Down syndrome; Philadelphia; The Children's Hospital of Philadelphia; Body composition; Obesity; Cardiovascular