Adolescents and adults with PWS often struggle with temper outbursts, compulsive behaviors, and self-injurious behaviors such as skin-picking. These behavioral challenges impact the quality of life for those with PWS and for their families and caregivers.
There are a number of therapeutic interventions available for Prader-Willi behavioral issues and emotional disturbances, including behavioral therapies and medications. However, successful treatment is somewhat limited. New research is contributing to a better understanding of the biological mechanisms in the brain that underly these behaviors in PWS, which is expected to advance treatments in this area.
Recent work from Dr. Stewart Einfeld's group at the University of Sydney suggests that some Prader-Willi behavioral issues may be due to low levels of a specific neurotransmitter in the brain called GABA. Using a combination of advanced brain imaging techniques and behavior measurements, they show that among individuals with PWS, GABA levels are lower in those with more emotional and behavioral issues. Low GABA levels correlated with behaviors such as temper outbursts, skin-picking, and depression.
This initial study included 30 total participants age 16 and older (15 with PWS and 15 without). Additional larger studies are needed to further define the connection between GABA and behavior in PWS, to look for differences among PWS genetic subtypes, and to explore other measures of behavior.
This work is the result of a 2013 FPWR funded project titled "Neurobiology of temper outburst behaviours in Prader-Willi syndrome," which used brain imaging to understand the neurological underpinnings of temper outbursts in PWS. The paper is titled "Reduced ganna-aminobutyric acid is associated with emotional and behavioral problem in Prader-Willi syndrome" and was published in the American Journal of Genetics: Neuropsychiatric Genetics.
Author Lauren Rice recently received the Young Investigator Award at the 2016 IPWSO Conference in Toronto, Canada for her outstanding contributions and commitment to research in PWS.