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Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a rare genetic disorder due to an abnormality on the 15th chromosome resulting in an excessive preoccupation with food and constant hunger, which in turn can lead to obesity and health–related problems. Hypotonia (poor muscle tone), small stature, cognitive delays, and other developmental disabilities are also associated with PWS. There are three ways that chromosome 15 is affected: as a paternal deletion, a maternal disomy (UPD), or through an imprinting error. Ironically, during the first two years of life, children with PWS are often considered failure to thrive due to poor muscle tone and poor sucking ability. During the toddler years, children with PWS develop the trademark hyperphagia (excessive over-eating) associated with the syndrome. The culmination of failure to thrive, hypotonia, and certain facial features such as almond-shaped eyes, are early indicators of the syndrome that often lead health professionals to conduct further testing necessary to diagnose the syndrome.

Researchers at the Strong Center for Developmental Disabilities at the University of Rochester Medical Center are conducting NIH-funded studies on the compulsive and food-seeking behavior in individuals with PWS. These studies are an important step in our search for a better understanding of the relationship of how genes affect behavior. It may also shed light on other eating disorders and compulsive disabilities, such as autism and Obsessive Compulsive Disorder. This research is being supported by a grant from the National Institute for Child Health and Human Development and the Prader-Willi Syndrome Association of America.

Specific research topics include:

  • Determining whether there are executive function deficits in individuals with PWS by evaluating performance on cognitive tasks involving flexibility and set shifting.
  • Evaluating brain response to food before and after eating using a functional magnetic resonance imaging (fMRI) task. Specific brain structures including the limbic system and areas of the frontal cortex are being evaluated to determine neural response and food motivation in individuals with PWS.
  • Evaluating body image and body esteem in individuals with PWS to determine whether their views differ from individuals with other developmental disabilities or individuals who are overweight.
  • Through a collaboration with the University of Missouri-Kansas City Department of Medicine and Children’s Mercy Hospital, we are comparing many of the behavioral outcomes listed above by genetic subtypes (uniparental disomy versus deletion).

Collaborators on the project include:

  • Drs. Jennifer Zarcone, Deborah Napolitano, and Christine Peterson at the Strong Center for Developmental Disabilities
  • Drs. Merlin Butler and Douglas Bittel at the University of Missouri-Kansas City Department of Medicine and Children’s Mercy Hospital
  • Dr. Cary Savage at the Hoglund Brain Imaging Center, University of Kansas Medical Center
  • Dr. Laura Holsen at the Brigham and Women’s Hospital, Harvard Medical School

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