Briegel Wolfgang
1 Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Leopoldina-Krankenhaus, Schweinfurt/ Klinik und Poliklinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Julius-Maximilians-Universität, Würzburg.
Z Kinder Jugendpsychiatr Psychother. 2018 May;46(3):238-246. doi: 10.1024/1422-4917/a000530. Epub 2017 Jun 14.
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.
普拉德-威利综合征（PWS）是由15号染色体长臂1区1带至1区3带（15q11-q13）区域印记基因的父源表达缺失所致。普拉德-威利综合征的估计出生发病率为1/15000至1/30000，是人类中较为常见的遗传综合征之一。典型的身体特征包括新生儿肌张力减退和喂养问题、性腺功能减退、儿童后期食欲亢进并伴有持续性肥胖以及身材矮小。大多数普拉德-威利综合征患者表现为轻度至中度智力障碍。此外，情绪不稳定、发脾气、抠皮肤和强迫行为在普拉德-威利综合征患者中相当典型。在成年期也发现精神障碍相当常见。本文综述了有关病因、身体特征、发育方面、行为表型以及所发生的精神障碍的现有知识，以及现有的心理药理学和心理治疗干预措施。
