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[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
PubMed
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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.

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  • 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.