Neuropsychiatric aspects of Prader-Willi syndrome – a review

Abstract

Prader-Willi Syndrome (PWS) is caused by the absence of paternal expression of imprinted genes in the region at 15q11–q13. With an estimated birth incidence of 1/15 000 – 1/30 000, PWS is one of the more frequent genetic syndromes among humans. Typical physical features include neonatal hypotonia and feeding problems, hypogonadism, hyperphagia in later childhood with consecutive obesity, and short stature. Most people with PWS show a mild to moderate intellectual disability. Furthermore, lability of mood, temper tantrums, skin-picking, and compulsive behaviors are quite typical for subjects with PWS. Psychotic disorders have also been found to be quite common in adulthood. This manuscript reviews current knowledge about the etiology, physical features, developmental aspects, behavioral phenotype, and psychiatric disorders that occur as well as existing psychopharmacological and psychotherapeutic interventions.