CAPRARO GRANT LOOKING AT BEHAVIOR AND WHAT HELPS

Many people with PWS struggle with maladaptive behaviors that overshadow their personality strengths and impede their optimal functioning. When symptoms do not respond to the usual behavioral interventions, some people with PWS respond well to medications; including the widely-used selective serotonin reuptake inhibitors (SSRIs) such as Prozac or Zoloft. While medication may help some persons with PWS have fewer or less severe compulsions, skin picking or tantrums, others persons do not show such positive responses, and still others are made worse.

Why is there such variability in how people with the same syndrome respond to the same medication? A new way to answer this question comes from the field of pharmacogenetics. Pharmacogenetics seeks to link genetic differences in drug metabolism with variability in drug response. Although much work remains to be done, genetic differences have been identified in how people metabolize or break down SSRI’s and other psychotropic medications. These studies are particularly well-justified in PWS, as persons often have a predictable set of symptoms, such as irritability and compulsions, along with variable responses to SSRI’s and other medications.

We plan to recruit 200 people with PWS (with either UPD or Deletion), ages 8-59 years, both males and females, who have been treated previously or are currently being treated with psychotropic medications for behavioral or psychiatric symptoms. We seek to learn more about the whole range of possible responses, from very successful to adverse. Maladaptive behavior, psychiatric symptoms, and parent coping skills will be assessed by a number of questionnaires, as will medication use, dosage, and symptom relief. A genetic sample will be collected using cheek cells from 2 mouthwash samples that will be included with the questionnaires.

We hope that this study will shed new light on medication use for problem behaviors, and why some people with PWS respond better to medication than others. Ultimately this work will lead to more effective medication interventions that are based on individual differences within PWS.

At the bottom add: For further information call Elizabeth Roof, Research Coordinator at 615-343-3330. or email at Elizabeth.roof@vanderbilt.edu 

This grant has been funded by PWSA (USA) through the Friends of Lea Capraro Fundraiser and the Valentine Research Fund Campaign