Prader-Willi syndrome: consensus diagnostic criteria.
Prader-Willi syndrome: consensus diagnostic criteria.
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DOI：
10.1542/peds.91.2.398
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发表时间：
1993-02
期刊：
影响因子：
8
通讯作者：
V. A. Holm;S. Cassidy;M. Butler;J. M. Hanchett;L. R. Greenswag;B. Whitman;F. Greenberg
中科院分区：
文献类型：
--
作者：
V. A. Holm;S. Cassidy;M. Butler;J. M. Hanchett;L. R. Greenswag;B. Whitman;F. Greenberg
Prader-Willi综合征（PWS）的诊断是基于随年龄变化的临床表现。张力减退在婴儿期很突出。肥胖、轻度智力迟钝或学习障碍以及行为问题，特别是与食物和饮食有关的行为问题，导致青春期和成年期的身体和发育障碍。尽管最近在细胞遗传学和分子遗传学方面的研究活动，但还没有一致的生物学标记可用于PWS。PWS的诊断标准是由七位有经验的临床医生与国内和国际专家协商后制定的。提供两种评分系统：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低渗婴儿和肥胖、轻度弱智、行为障碍的青少年和成人的综合征。它们还将确保PWS未来临床和实验室研究的统一诊断。
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.