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

Jessica Mackay^{1

2}, Zoe McCallum^{3

4}, Geoffrey R Ambler⁵, Komal Vora⁶, Gillian Nixon^{7

8

9}, Philip Bergman^{9

10}, Nora Shields¹¹, Kate Milner^{3

12}, Nitin Kapur^{13

14}, Patricia Crock^{6

15}, Daan Caudri^{1

16}, Jaqueline Curran¹⁷, Charles Verge^{18

19}, Chris Seton^{20

21}, Andrew Tai²², Elaine Tham²³, Yassmin Musthaffa^{24

25}, Antony R Lafferty^{26

27}, Greg Blecher²⁸, Jessica Harper¹⁸, Cara Schofield¹, Aleisha Nielsen²⁹, Andrew Wilson^{1

29}, Helen Leonard¹, Catherine S Choong^{1

17}, Jenny Downs^{1

30}

Affiliations

¹ Telethon Kids Institute, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia.
² School of Medicine, University of Western Australia, Perth, Western Australia, Australia.
³ Department of Neurodevelopment and Disability, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁴ Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁵ Institute of Endocrinology and Diabetes, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁶ Department of Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, Newcastle, New South Wales, Australia.
⁷ Melbourne Children's Sleep Centre, Monash Children's Hospital, Melbourne, Victoria, Australia.
⁸ The Ritchie Centre, Melbourne, Victoria, Australia.
⁹ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
¹⁰ Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Melbourne, Victoria, Australia.
¹¹ School of Allied Health, La Trobe University, Melbourne, Victoria, Australia.
¹² Centre for International Child Health, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
¹³ Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁴ School of Clinical Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹⁵ Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, Australia.
¹⁶ Erasmus University Medical Center, Rotterdam, the Netherlands.
¹⁷ Department of Endocrinology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁸ Department of Endocrinology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
¹⁹ School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
²⁰ Department of Sleep Medicine, Children's Hospital Westmead, Sydney, New South Wales, Australia.
²¹ Woolcock Institute of Medical Research, Sydney University, Sydney, New South Wales, Australia.
²² Respiratory and Sleep Department, Women's and Children's Hospital, Adelaide, South Australia, Australia.
²³ Endrocrinology and Diabetes Department, Women's and Children's Hospital, Adelaide, South Australia, Australia.
²⁴ Diamantina Institute, Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
²⁵ Translational Research Institute, University of Queensland, Brisbane, Queensland, Australia.
²⁶ Department of Endocrinology and Diabetes, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
²⁷ Medical School, Australian National University, Canberra, Australian Capital Territory, Australia.
²⁸ Department of Sleep Medicine, Sydney Children's Hospital, Sydney, New South Wales, Australia.
²⁹ Respiratory and Sleep Medicine, Perth Children's Hospital, Perth, Western Australia, Australia.
³⁰ School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.

PMID: 31257692
PMCID: PMC6852695
DOI: 10.1111/jpc.14546

Review

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

Jessica Mackay et al. J Paediatr Child Health. 2019 Sep.

. 2019 Sep;55(9):1029-1037.

doi: 10.1111/jpc.14546. Epub 2019 Jun 30.

Authors

Affiliations

¹ Telethon Kids Institute, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia.
² School of Medicine, University of Western Australia, Perth, Western Australia, Australia.
³ Department of Neurodevelopment and Disability, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁴ Department of Gastroenterology and Clinical Nutrition, Royal Children's Hospital, Melbourne, Victoria, Australia.
⁵ Institute of Endocrinology and Diabetes, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁶ Department of Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, Newcastle, New South Wales, Australia.
⁷ Melbourne Children's Sleep Centre, Monash Children's Hospital, Melbourne, Victoria, Australia.
⁸ The Ritchie Centre, Melbourne, Victoria, Australia.
⁹ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
¹⁰ Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Melbourne, Victoria, Australia.
¹¹ School of Allied Health, La Trobe University, Melbourne, Victoria, Australia.
¹² Centre for International Child Health, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
¹³ Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁴ School of Clinical Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹⁵ Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, Australia.
¹⁶ Erasmus University Medical Center, Rotterdam, the Netherlands.
¹⁷ Department of Endocrinology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁸ Department of Endocrinology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
¹⁹ School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
²⁰ Department of Sleep Medicine, Children's Hospital Westmead, Sydney, New South Wales, Australia.
²¹ Woolcock Institute of Medical Research, Sydney University, Sydney, New South Wales, Australia.
²² Respiratory and Sleep Department, Women's and Children's Hospital, Adelaide, South Australia, Australia.
²³ Endrocrinology and Diabetes Department, Women's and Children's Hospital, Adelaide, South Australia, Australia.
²⁴ Diamantina Institute, Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.
²⁵ Translational Research Institute, University of Queensland, Brisbane, Queensland, Australia.
²⁶ Department of Endocrinology and Diabetes, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
²⁷ Medical School, Australian National University, Canberra, Australian Capital Territory, Australia.
²⁸ Department of Sleep Medicine, Sydney Children's Hospital, Sydney, New South Wales, Australia.
²⁹ Respiratory and Sleep Medicine, Perth Children's Hospital, Perth, Western Australia, Australia.
³⁰ School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.

PMID: 31257692
PMCID: PMC6852695
DOI: 10.1111/jpc.14546

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 as understanding the effects of growth hormone on respiratory and sleep function. New knowledge regarding the transition of children and families from schooling and paediatric health services to employment, accommodation and adult health services is also needed. Developing a national population-based registry could address these knowledge gaps and inform advocacy for support services that improve the well-being of individuals with PWS and their families.

Keywords: Prader-Willi syndrome; endocrine; hyperphagia; quality of life; sleep disordered breathing.

© 2019 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

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Figures

**Figure 1**
Characteristic clinical features of the Prader‐Willi syndrome phenotype in infants and toddlers under 3 years of age and in children and adolescents aged 3 years and older. CVD, cardiovascular disease; T2DM, type 2 diabetes mellitus.

**Figure 2**
Model of the determinants and modifiable pathways at the individual, social and socio‐economic levels that influence quality‐of‐life outcomes for children and families affected by Prader‐Willi syndrome.

See this image and copyright information in PMC

References

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

Affiliations

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

Authors

Affiliations

Abstract

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References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical