Prader-Willi Syndrome: Background and Management
The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management
is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children. Although a lot has been discovered and this syndrome can
be managed to a satisfactory degree, further research is still important especially regarding new potential treatments with greater efficiency and reduced invasiveness. The neonatal nurse has an important role because the management requires thorough monitoring as well as high compliance from
both the patient and the carers. Thus, it is essential for the neonatal nurse to have a good knowledge of this condition.
Keywords: ENDOCRINE; GROWTH HORMONE DEFICIENCY; OBESITY; PRADER-WILLI SYNDROME
Document Type: Research Article
Publication date: 01 May 2017
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