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Published on: October 4, 2018
[The Prader-Willi syndrome]
G Diene1, A Postel-Vinay, G Pinto
1Service d'endocrinologie, de maladies osseuses, de génétique et de gyncologie médicale, centre de référence du syndrome de Prader-Willi, hôpital des Enfants, Toulouse cedex 09, France. diene.g@chu-toulouse.fr
Annales D'Endocrinologie
|May 15, 2007
Summary
Prader-Willi syndrome (PWS) is a rare genetic disorder affecting chromosome 15. Early diagnosis and multidisciplinary management, including growth hormone treatment, improve quality of life, though long-term adult data is limited.
Area of Science:
- Genetics
- Endocrinology
- Developmental Pediatrics
Context:
- Prader-Willi syndrome (PWS) is a rare genetic disorder affecting chromosome 15 (15q11-q13).
- It impacts 1 in 25,000 births, presenting with hypotonia, developmental delays, and distinct facial features in infancy.
- Key features include hyperphagia and absent satiety leading to early-onset obesity, endocrine abnormalities, and variable cognitive dysfunction.
Purpose:
- To outline the clinical presentation, diagnosis, and management of Prader-Willi syndrome.
- To highlight the importance of early intervention and multidisciplinary care.
- To identify gaps in knowledge regarding long-term outcomes in adults.
Summary:
- PWS diagnosis relies on clinical criteria (Holm's criteria) confirmed by genetic testing, with most cases being sporadic.
- Management involves a global, multidisciplinary approach, including growth hormone (GH) therapy.
- Early diagnosis and treatment significantly improve children's quality of life.
Impact:
- Improved quality of life for children with PWS through early diagnosis and GH treatment.
- Highlights the need for continued research into long-term adult outcomes, particularly concerning obesity and autonomy.
- Emphasizes the critical role of genetic counseling for familial cases.
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