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 & 6 others Cara Schofield, Aleisha Nielsen, Andrew Wilson, Helen Leonard, Catherine S. Choong, Jenny Downs

Research output: Contribution to journalReview article

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.

Original languageEnglish
JournalJournal of Paediatrics and Child Health
DOIs
Publication statusE-pub ahead of print - 30 Jun 2019

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Prader-Willi Syndrome
Growth Hormone
Health Services
Health
Quality of Life
Caregivers
Registries
Sleep
Pediatrics
Phenotype
Weights and Measures
Therapeutics
Population

Cite this

Mackay, Jessica ; McCallum, Zoe ; Ambler, Geoffrey R. ; Vora, Komal ; Nixon, Gillian ; Bergman, Philip ; Shields, Nora ; Milner, Kate ; Kapur, Nitin ; Crock, Patricia ; Caudri, Daan ; Curran, Jaqueline ; Verge, Charles ; Seton, Chris ; Tai, Andrew ; Tham, Elaine ; Musthaffa, Yassmin ; Lafferty, Antony R. ; Blecher, Greg ; Harper, Jessica ; Schofield, Cara ; Nielsen, Aleisha ; Wilson, Andrew ; Leonard, Helen ; Choong, Catherine S. ; Downs, Jenny. / Requirements for improving health and well-being of children with Prader-Willi syndrome and their families. In: Journal of Paediatrics and Child Health. 2019.
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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.",
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author = "Jessica Mackay and Zoe McCallum and Ambler, {Geoffrey R.} and Komal Vora and Gillian Nixon and Philip Bergman and Nora Shields and Kate Milner and Nitin Kapur and Patricia Crock and Daan Caudri and Jaqueline Curran and Charles Verge and Chris Seton and Andrew Tai and Elaine Tham and Yassmin Musthaffa and Lafferty, {Antony R.} and Greg Blecher and Jessica Harper and Cara Schofield and Aleisha Nielsen and Andrew Wilson and Helen Leonard and Choong, {Catherine S.} and Jenny Downs",
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Mackay, J, McCallum, Z, Ambler, GR, Vora, K, Nixon, G, Bergman, P, Shields, N, Milner, K, Kapur, N, Crock, P, Caudri, D, Curran, J, Verge, C, Seton, C, Tai, A, Tham, E, Musthaffa, Y, Lafferty, AR, Blecher, G, Harper, J, Schofield, C, Nielsen, A, Wilson, A, Leonard, H, Choong, CS & Downs, J 2019, 'Requirements for improving health and well-being of children with Prader-Willi syndrome and their families' Journal of Paediatrics and Child Health. https://doi.org/10.1111/jpc.14546

Requirements for improving health and well-being of children with Prader-Willi syndrome and their families. / Mackay, Jessica; McCallum, Zoe; Ambler, Geoffrey R.; Vora, Komal; Nixon, Gillian; Bergman, Philip; Shields, Nora; Milner, Kate; Kapur, Nitin; Crock, Patricia; Caudri, Daan; Curran, Jaqueline; Verge, Charles; Seton, Chris; Tai, Andrew; Tham, Elaine; Musthaffa, Yassmin; Lafferty, Antony R.; Blecher, Greg; Harper, Jessica; Schofield, Cara; Nielsen, Aleisha; Wilson, Andrew; Leonard, Helen; Choong, Catherine S.; Downs, Jenny.

In: Journal of Paediatrics and Child Health, 30.06.2019.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

AU - Mackay, Jessica

AU - McCallum, Zoe

AU - Ambler, Geoffrey R.

AU - Vora, Komal

AU - Nixon, Gillian

AU - Bergman, Philip

AU - Shields, Nora

AU - Milner, Kate

AU - Kapur, Nitin

AU - Crock, Patricia

AU - Caudri, Daan

AU - Curran, Jaqueline

AU - Verge, Charles

AU - Seton, Chris

AU - Tai, Andrew

AU - Tham, Elaine

AU - Musthaffa, Yassmin

AU - Lafferty, Antony R.

AU - Blecher, Greg

AU - Harper, Jessica

AU - Schofield, Cara

AU - Nielsen, Aleisha

AU - Wilson, Andrew

AU - Leonard, Helen

AU - Choong, Catherine S.

AU - Downs, Jenny

PY - 2019/6/30

Y1 - 2019/6/30

N2 - 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.

AB - 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.

KW - endocrine

KW - hyperphagia

KW - Prader-Willi syndrome

KW - quality of life

KW - sleep disordered breathing

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U2 - 10.1111/jpc.14546

DO - 10.1111/jpc.14546

M3 - Review article

JO - Journal of Paediatric and Child Health

JF - Journal of Paediatric and Child Health

SN - 1034-4810

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