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A comprehensive team approach to the management of patients with Prader-Willi syndrome
Urs Eiholzer1, Barbara Y Whitman
1Foundation Growth Puberty Adolescence, Zurich, Switzerland. urs.eiholzer@childgrowth.org
Insights
Prader-Willi syndrome (PWS) is a genetic disorder causing obesity and growth issues. Growth hormone (GH) therapy can improve height and body composition in children with PWS.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- It presents with severe obesity, developmental delays, and behavioral issues.
- Short stature and reduced final height are common in PWS patients.
Purpose of the Study:
- To investigate the effects of growth hormone (GH) therapy in children with PWS.
- To assess GH's impact on growth, body composition, and weight-for-height index.
- To highlight the need for multidisciplinary management in PWS.
Main Methods:
- Review of growth hormone (GH) treatment trials in children with PWS.
- Analysis of data on height velocity, body fat mass, and lean body mass.
- Evaluation of clinical manifestations and management strategies.
Main Results:
- GH treatment significantly increases height velocity in PWS children.
- GH therapy reduces weight-for-height index and body fat mass.
- Positive effects on lean body mass observed during the first year of therapy.
Conclusions:
- Hypothalamic GH deficiency is implicated in PWS growth issues.
- GH treatment offers benefits for height and body composition in PWS.
- Comprehensive, multidisciplinary management is essential for PWS patients.
Abstract:
Prader-Willi syndrome (PWS) is a genetic disorder characterized by extreme obesity accompanied by other, multisystem clinical manifestations encompassing both physical and behavioral/cognitive abnormalities. The multi-dimensional problems of patients with PWS cannot be treated with a single intervention and benefit from a team approach to management to optimize outcomes. Childhood stature below target height and reduced final height are some defining characteristics of PWS, and compelling evidence from growth hormone (GH) treatment trials suggests that hypothalamic GH deficiency exists. Treatment with GH has been shown to increase height velocity in children with PWS, decrease weight-for-height index values and body fat mass, and have a positive effect on lean body mass during at least the first year of therapy. In addition to medical concerns, the behavioral manifestations, including an uncorrectable deficit in appetite control, and cognitive limitations associated with PWS, require long-term multidisciplinary management.
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