Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Jessica Mackay; Gillian M Nixon; Antony R Lafferty; Geoff Ambler; Nitin Kapur; Philip B Bergman; Cara Schofield; Chris Seton; Andrew Tai; Elaine Tham; Komal Vora; Patricia Crock; Charles Verge; Yassmin Musthaffa; Greg Blecher; Daan Caudri; Helen Leonard; Peter Jacoby; Andrew Wilson; Catherine S Choong; Jenny Downs

doi:10.1007/s10803-021-05265-5

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

J Autism Dev Disord. 2022 Sep;52(9):3877-3889. doi: 10.1007/s10803-021-05265-5. Epub 2021 Sep 8.

Authors

Jessica Mackay^{1

2

3}, Gillian M Nixon^{4

5}, Antony R Lafferty^{6

7}, Geoff Ambler^{8

9}, Nitin Kapur^{10

11}, Philip B Bergman^{5

12}, Cara Schofield¹, Chris Seton^{13

14}, Andrew Tai¹⁵, Elaine Tham¹⁶, Komal Vora^{17

18}, Patricia Crock^{17

19

20}, Charles Verge^{21

22}, Yassmin Musthaffa^{23

24

25}, Greg Blecher²⁶, Daan Caudri^{1

27

28}, Helen Leonard¹, Peter Jacoby¹, Andrew Wilson^{1

27

29

30}, Catherine S Choong^{1

31}, Jenny Downs^{32

33}

Affiliations

¹ Telethon Kids Institute, The Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia.
² School of Medicine, The University of Western Australia, Crawley, WA, Australia.
³ Royal Perth Hospital, Perth, WA, Australia.
⁴ Melbourne Children's Sleep Centre, Monash Children's Hospital, Clayton, Victoria, Australia.
⁵ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
⁶ Paediatric Endocrinology and Diabetes Service, Department of Paediatrics, Canberra Hospital, Garran, Australia.
⁷ Paediatric and Child Health, ANU Medical School, Canberra ACT, Australia.
⁸ The Sydney Children's Hospitals Network, Westmead, NSW, Australia.
⁹ Discipline of Child and Adolescent Health, The University of Sydney, Camperdown, NSW, Australia.
¹⁰ Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
¹¹ School of Clinical Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹² Department of Paediatric Endocrinology & Diabetes, Monash Children's Hospital, Clayton, Victoria, Australia.
¹³ Department of Sleep Medicine, Children's Hospital Westmead, Westmead, NSW, Australia.
¹⁴ Woolcock Institute of Medical Research, Sydney University, Camperdown, NSW, Australia.
¹⁵ Respiratory and Sleep Department, Women's and Children's Hospital, North Adelaide, SA, Australia.
¹⁶ Endocrinology and Diabetes Department, Women's and Children's Hospital, North Adelaide, SA, Australia.
¹⁷ Department of Paediatric Endocrinology and Diabetes, John Hunter Children's Hospital, Newcastle, NSW, Australia.
¹⁸ School of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia.
¹⁹ Hunter Medical Research Institute, Newcastle, NSW, Australia.
²⁰ The Priority Research Centre GrowUpWell®, Newcastle, NSW, Australia.
²¹ Department of Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
²² School of Women's and Children's Health, The University of New South Wales, Sydney, NSW, Australia.
²³ Department of Endocrinology and Diabetes, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
²⁴ Department of Paediatrics, Logan Hospital, Brisbane, Queensland, Australia.
²⁵ School of Clinical Medicine, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
²⁶ Department of Sleep Medicine, Sydney Children's Hospital, Randwick, NSW, Australia.
²⁷ Discipline of Paediatrics, School of Medicine, The University of Western Australia, Crawley, WA, Australia.
²⁸ Department of Paediatric Pulmonology, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.
²⁹ Respiratory and Sleep Medicine, Perth Children's Hospital, Nedlands, WA, Australia.
³⁰ Curtin School of Allied Health, Curtin University, Perth, WA, Australia.
³¹ Department of Endocrinology, Perth Children's Hospital, Nedlands, WA, Australia.
³² Telethon Kids Institute, The Centre for Child Health Research, The University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia. Jenny.Downs@telethonkids.org.au.
³³ Curtin School of Allied Health, Curtin University, Perth, WA, Australia. Jenny.Downs@telethonkids.org.au.

PMID: 34498151
DOI: 10.1007/s10803-021-05265-5

Abstract

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry (n = 50, mean age 11.2 years) to evaluate associations between child behaviours and caregiver mental well-being. Symptoms of sleep-related breathing disorder, child depression and social difficulties were associated with poorer caregiver mental and physical well-being. Growth hormone therapy use was associated with better caregiver mental and physical well-being. Optimising management of problematic behaviours and sleep disturbances have the potential to support caregivers who are the most vital network of support for individuals affected by PWS.

Keywords: Growth hormone; Hyperphagia; behaviour; Parental well-being; Prader-Willi syndrome; Sleep.

MeSH terms

Autism Spectrum Disorder*
Caregivers
Child
Humans
Hyperphagia
Prader-Willi Syndrome* / genetics
Quality of Life
Sleep
Sleep Wake Disorders*