Investigators: Aleisha Nielsen, Andrew Wilson, Cara Schofield, Catherine Choong, Helen Leonard, Jenny Downs
Project description
Prader-Willi syndrome (PWS) is a rare genetic condition associated with developmental and health complications. Children with PWS experience developmental delays, increased appetite and food seeking behaviours resulting in severe obesity, sleep disordered breathing, sleep regulation problems, and behavioural difficulties such as anxiety. Many have an intellectual disability. Children with PWS have low levels of Growth Hormone (GH) and their growth is affected by the condition alongside their development of obesity. Behavioural difficulties such as excessive food seeking and anxiety are challenging and unpredictable and require constant parental surveillance. This causes enormous strain on families yet the health and wellbeing of affected families is not known nor how their life quality can be supported. The establishment of a national database for PWS is a research priority and our team has strong and established collaborations with the PWS centres in each of the other states in Australia to ensure that this is a feasible target. We propose to establish a national database of families with a child with PWS to examine comprehensively the health and wellbeing of children with PWS and their families. The establishment of a PWS database will form a platform for understanding the natural history of PWS and identify the most relevant respiratory and sleep assessments. This in turn will enable studies to determine the effectiveness of existing and new treatments to better equip doctors, researchers and families to optimally support the child’s needs.
External collaborators: Nora Shields (La Trobe University), Gillian Nixon (Monash Children's Hospital), Philip Bergman (Monash Children's Hospital), Zoe McCallum (Royal Children's Hospital Melbourne), Kate Milner (Royal Children's Hospital Melbourne), Patricia Crock (John Hunter Children's Hospital), Komal Vora (John Hunter Children's Hospital), Nitin Kapur (Queensland Children's Hospital), Yassmin Musthaffa (Queensland Children's Hospital), Geoff Ambler (Westmead Children's Hospital), Chris Seton (Westmead Children's Hospital), Charles Verge (Sydney Children's Hospital), Greg Blecher (Sydney Children's Hospital), Jessica Harper (Sydney Children's Hospital), Tony Lafferty (Canberra Hospital), Andrew Thai (Women and Children's Hospital (Adelaide)), Elaine Tham (Women and Children's Hospital (Adelaide))