Requirements for improving health and well-being of children with Prader-Willi syndrome and their families
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 we...
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| Format: | Journal Article |
| Language: | English |
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WILEY
2019
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| Online Access: | http://hdl.handle.net/20.500.11937/80539 |
| _version_ | 1848764230375833600 |
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| author | Mackay, J. McCallum, Z. Ambler, G.R. 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, A.R. Blecher, G. Harper, J. Schofield, C. Nielsen, A. Wilson, A. Leonard, H. Choong, C.S. Downs, Jennepher |
| author_facet | Mackay, J. McCallum, Z. Ambler, G.R. 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, A.R. Blecher, G. Harper, J. Schofield, C. Nielsen, A. Wilson, A. Leonard, H. Choong, C.S. Downs, Jennepher |
| author_sort | Mackay, J. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T11:16:03Z |
| format | Journal Article |
| id | curtin-20.500.11937-80539 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T11:16:03Z |
| publishDate | 2019 |
| publisher | WILEY |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-805392021-01-07T07:46:47Z Requirements for improving health and well-being of children with Prader-Willi syndrome and their families Mackay, J. McCallum, Z. Ambler, G.R. 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, A.R. Blecher, G. Harper, J. Schofield, C. Nielsen, A. Wilson, A. Leonard, H. Choong, C.S. Downs, Jennepher Science & Technology Life Sciences & Biomedicine Pediatrics endocrine hyperphagia Prader-Willi syndrome quality of life sleep disordered breathing GROWTH-HORMONE TREATMENT QUALITY-OF-LIFE BEHAVIOR PROBLEMS PARENTING STRESS BODY-COMPOSITION THERAPY PREVALENCE DISORDERS MORTALITY PEOPLE 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. 2019 Journal Article http://hdl.handle.net/20.500.11937/80539 10.1111/jpc.14546 English http://creativecommons.org/licenses/by/4.0/ WILEY fulltext |
| spellingShingle | Science & Technology Life Sciences & Biomedicine Pediatrics endocrine hyperphagia Prader-Willi syndrome quality of life sleep disordered breathing GROWTH-HORMONE TREATMENT QUALITY-OF-LIFE BEHAVIOR PROBLEMS PARENTING STRESS BODY-COMPOSITION THERAPY PREVALENCE DISORDERS MORTALITY PEOPLE Mackay, J. McCallum, Z. Ambler, G.R. 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, A.R. Blecher, G. Harper, J. Schofield, C. Nielsen, A. Wilson, A. Leonard, H. Choong, C.S. Downs, Jennepher Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title | Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title_full | Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title_fullStr | Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title_full_unstemmed | Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title_short | Requirements for improving health and well-being of children with Prader-Willi syndrome and their families |
| title_sort | requirements for improving health and well-being of children with prader-willi syndrome and their families |
| topic | Science & Technology Life Sciences & Biomedicine Pediatrics endocrine hyperphagia Prader-Willi syndrome quality of life sleep disordered breathing GROWTH-HORMONE TREATMENT QUALITY-OF-LIFE BEHAVIOR PROBLEMS PARENTING STRESS BODY-COMPOSITION THERAPY PREVALENCE DISORDERS MORTALITY PEOPLE |
| url | http://hdl.handle.net/20.500.11937/80539 |