Holm V A, Cassidy S B, Butler M G, Hanchett J M, Greenswag L R, Whitman B Y, Greenberg F
Child Development and Mental Retardation Center, University of Washington School of Medicine, Seattle 98195.
Pediatrics. 1993 Feb;91(2):398-402.
The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating, result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.
普拉德-威利综合征（PWS）的诊断基于随年龄变化的临床症状。婴儿期肌张力减退较为突出。肥胖、轻度智力障碍或学习障碍以及行为问题，尤其是与食物和饮食相关的问题，会在青少年期和成年期导致身体和发育的严重残疾。尽管细胞遗传学和分子遗传学领域近期有研究活动，但目前尚无针对PWS的一致生物学标志物。PWS的诊断标准是由七位熟悉该综合征的临床医生与国内和国际专家协商后达成共识制定的。提供了两种评分系统：一种适用于0至36个月的儿童，另一种适用于3岁至成人的儿童。这些标准将有助于识别肌张力减退的婴儿以及肥胖、轻度智力发育迟缓、行为紊乱的青少年和成人中的该综合征。它们还将确保PWS未来临床和实验室研究的统一诊断。
