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[Prader-Willi syndrome in 2015].

Maïthé Tauber1, Denise Thuilleaux2, Éric Bieth3

  • 1Centre de référence du SPW, unité d'endocrinologie, obésité, maladies osseuses, génétique et gynécologie médicale, hôpital des enfants, CHU de Toulouse, 330 avenue de Grande-Bretagne, TSA 70034, 31059 Toulouse Cedex 9, France.

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Prader-Willi syndrome (PWS) is a genetic disorder affecting neurodevelopment. Early diagnosis and understanding its complex nutritional and behavioral phases are key for improved multidisciplinary care and new therapeutic strategies.

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Area of Science:

  • Genetics and Neurodevelopmental Disorders
  • Genomic Imprinting
  • Chromosomal Abnormalities

Context:

  • Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder.
  • Caused by the lack of imprinted gene expression in the 15q11-q12 chromosomal region.
  • Diagnosis is possible in early infancy, enabling detailed natural history studies.

Purpose:

  • To describe the complex nutritional phases of Prader-Willi syndrome.
  • To outline the diverse phenotypic features of PWS.
  • To highlight advancements in multidisciplinary care and therapeutic perspectives.

Summary:

  • PWS presents with neonatal hypotonia and failure to thrive, followed by hyperphagia and morbid obesity.
  • Other features include endocrine dysfunction, intellectual disability, learning deficits, behavioral issues, and psychiatric conditions.
  • The natural history is complex, with distinct nutritional and developmental phases.

Impact:

  • Improved understanding of PWS pathophysiology aids in developing new therapeutic strategies.
  • Enhanced multidisciplinary care, supported by rare disease and obesity programs, improves patient outcomes.
  • Early diagnosis allows for precise natural history description and timely interventions.