Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician
2007; SAGE Publishing; Volume: 46; Issue: 7 Linguagem: Inglês
10.1177/0009922807299314
ISSN1938-2707
AutoresChristina Chen, Jeannie Visootsak, Shelley Dills, John M. Graham,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoPrader-Willi syndrome, the first known human genomic imprinting disorder, is one of the most common micro-deletion syndromes. Prader-Willi syndrome is caused by the absence of certain paternally inherited genes on the long arm of chromosome 15, resulting in a complete absence of the active copy of the genetic information in this region. It is most commonly known for its food-related characteristics of hyperphagia, food-seeking behavior, and consequent obesity. Primary care physicians play an important role in the care of children with Prader-Willi syndrome, from recognizing the presenting signs and symptoms at its various stages to understanding their unique medical, developmental, behavioral, and dietary issues. They can also serve as a valuable source of support and advocacy for the family. This article reviews the current state of knowledge about Prader-Willi syndrome and discusses up-to-date understanding of the management of this condition.
Referência(s)