Current Psychiatry Reviews

Michael E. Thase
University of Pennsylvania School of Medicine
3535 Market St, Suite 670
Philadelphia, PA 19104


Prader-Willi Syndrome: Genetics, Phenotype, and Management

Author(s): M. Constantine Samaan.


Prader-Willi syndrome (PWS) is an imprinting neurodevelopmental disorder resulting from loss of function of paternal PWS critical genomic region on chromosome 15q11-q13. The clinical course in PWS is characterized by neonatal hypotonia with feeding difficulties and failure to thrive. This is followed by onset of hyperphagia leading to obesity. Patients with PWS have several neurobehavioral and psychiatric features including learning disability, autism spectrum disorder, temper tantrums, repetitive behaviors, skin picking, affective disorders and psychosis.

In this review, we focus on genotype–phenotype correlations in PWS. We also describe the current protocol for genetic testing to establish the diagnosis, the differential diagnosis of PWS, and the neurobehavioral and psychiatric manifestations and their management.

Keywords: Depression, genetics, imprinting, obesity, prader-willi syndrome, psychiatry, psychosis.

Order Reprints Order Eprints Rights & PermissionsPrintExport

Article Details

Year: 2014
Page: [168 - 181]
Pages: 14
DOI: 10.2174/1573400510666140319234658
Price: $58