Neurodevelopmental and Behavioral Pediatrics Research

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. 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 genetic testing necessary to diagnose the syndrome.

Researchers at the Neurodevelopmental & Behavioral Pediatrics 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 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:

• 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.
• Comparing many of the behavioral outcomes listed above byPrader-Willi Syndrome genetic subtypes.
• The effectiveness of a dietary intervention to reduce hunger and food related problem behavior.

Collaborators on the project include:

• Drs. Jennifer Zarcone, Deborah Napolitano, and Christine Peterson in Neurodevelopmental and Behavioral Pediatrics
• Dr. Merlin Butler and Dr. Cary Savage at the University of Kansas Medical Center
• Dr. Laura Holsen at the Brigham and Women’s Hospital, Harvard Medical School

More Information

• Prader-Willi Syndrome Association of America
  (800) 926-4797 or (941) 312-0400  
  
• Prader-Willi Alliance of New York, Inc.
  Send email to: alliance@prader-willi.org or call 800-442-1655 (outside Rochester)
• Finger Lakes DDSO
  (Serving Monroe, Livingston, Wayne, Ontario, Seneca, Yates and Wyoming Counties) Call (585) 241-5742