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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.
Insights
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.
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.
Abstract:
Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural history of the disease. Of interest, nutritional phases appear to be more complex than those initially reported, starting with a severe hypotonia with deficit of suckling and failure to thrive in neonates, and subsequently switching to excessive weight gain with morbid obesity due to hyperphagia and deficit of satiety. The phenotype also includes endocrine dysfunction, intellectual disability, learning deficits, behavioural troubles with impaired social skills and psychiatric features. Multidisciplinary care has been strongly improved by the rare disease programme launched in France in 2004 and the Obesity programme in 2011 in link with the patient association. New therapeutic perspectives have arisen from knowledge of the pathophysiology of PWS.
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