Journal article

Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

Jessica Mackay, Zoe McCallum, Geoffrey R Ambler, Komal Vora, Gillian Nixon, Philip Bergman, Nora Shields, Kate Milner, Nitin Kapur, Patricia Crock, Daan Caudri, Jaqueline Curran, Charles Verge, Chris Seton, Andrew Tai, Elaine Tham, Yassmin Musthaffa, Antony R Lafferty, Greg Blecher, Jessica Harper Show all

Journal of Paediatrics and Child Health | WILEY | Published : 2019

Abstract

Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement. The literature was reviewed to describe neurodevelopment and the behavioural phenotype, endocrine and metabolic disorders and respiratory and sleep functioning. Implications for child and family quality of life were explored. Challenging behaviours contribute to poorer well-being and quality of life for both the child and caregiver. Recent evidence indicates healthy outcomes of weight and height can be achieved with growth hormone therapy and dietary restriction and should be the current target for all individuals with PWS. Gaps in the literature included therapies to manage challenging behaviours, as well..

View full abstract

Grants

Funding Acknowledgements

This work is supported by a Prader Willi Association USA 2016 Research Grant to CS Choong, D Caudri and A Wilson and a Perth Children's Hospital Foundation 2018 to CS Choong, J Downs, D Caudri, H Leonard and G Nixon. We acknowledge the advice of the Western Australian PWS Consumer Reference Group. We thank Ms Gillian Northcott from Medical Illustrations at Perth Children's Hospital for the assistance with digital artwork.