Individuals with Prader Willi Syndrome (PWS) are known to display frequent and severe temper outburst behaviours throughout their life. These behaviours can have a significant impact on the quality of life for the individual and their family. Prader Willi outbursts are reactive explosion of emotion that once provoked the individual has little control over. Individuals with PWS are much more likely to display temper outbursts than are people in the typically developing population or individuals with intellectual disabilities due to other causes. These factors combined suggest that there is a genetic and neurobiological cause for these behaviours. If this is the case then like other neurobiological behavioural difficulties psychopharmacological intervention may be the best form of management. To date most PWS brain imaging studies have focused primarily on obesity and hyperphagia. There is no known study that has attempted to understand the neurological underpinnings of temper outbursts in PWS. The aim of this study is to investigate the structure, connectivity and neurochemistry of PWS with the intent to provide a direction for future research in understanding temper outburst behaviours.
The characteristics of temper outbursts in Prader-Willi syndrome. Rice LJ, Woodcock K, Einfeld SL. Am J Med Genet A. 2018 Nov;176(11):2292-2300.
Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study. Rice LJ, Lagopoulos J, Brammer M, Einfeld SL. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017 Sep;175(3):362-367.
Reduced gamma-aminobutyric acid is associated with emotional and behavioral problems in Prader-Willi syndrome. Rice LJ, Lagopoulos J, Brammer M, Einfeld SL. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2016 Dec;171(8):1041-1048.
Stewart Einfeld, MD
$8,213 (OSS Funds)
Univ Sydney, Australia