Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht, The Netherlands.
Am J Med Genet A. 2011 Sep;155A(9):2112-24. doi: 10.1002/ajmg.a.34171. Epub 2011 Aug 10.
Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi-structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage.
普拉德-威利综合征（PWS）是一种遗传性疾病，其特征是婴儿早期严重的肌张力低下和喂养问题。在儿童后期和青少年期，如果饮食得不到严格控制，会出现食欲过盛和极度肥胖。关于成年人 PWS 的身体健康问题的数据很少。我们报告了荷兰成年人 PWS 队列中与年龄、BMI 和遗传亚型相关的身体健康问题的流行情况。参与者（n=102）通过荷兰普拉德-威利父母协会以及专门治疗智力障碍者的医生招募。通过半结构化访谈从照顾者那里收集了参与者一生中身体健康问题的详细信息。心血管问题包括糖尿病、高血压和脑血管意外。呼吸道感染在成年期很常见。在男性中，隐睾几乎是普遍存在的，其中 48 名男性中有 28 人有过手术史，主要是隐睾固定术。没有女性有规律的月经周期。16 人被诊断为骨质疏松症。脊柱变形、髋关节发育不良和足部异常很常见。皮肤搔抓、腿部水肿和丹毒是常见的皮肤问题。我们组的发现支持这样一种观点，即身体健康问题的流行率被低估了。这强调了制定监测计划的重要性，这将有助于及早发现身体健康问题。
