The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood
The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood
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DOI：
10.1111/j.1469-8749.2009.03530.x
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发表时间：
2010-06-01
影响因子：
3.8
通讯作者：
Goldstone, Anthony P.
中科院分区：
文献类型：
--
作者：
Butler, Jill V.;Whittington, Joyce E.;Goldstone, Anthony P.
AimPrader-Willi综合征（PWS）是一种遗传性疾病，历史上以两个表型阶段为特征。婴儿的早期表型与张力减退、吸吮不良和发育不良有关。在儿童期后期，PWS与智力残疾、食欲过盛以及生长和性激素缺乏有关。关于表型之间的转换知之甚少。本研究调查的性质的变化，在婴儿期和儿童PWS. MethodForty 6名儿童（22名女性，24名男性;平均年龄2年9月，SD 18.9月;范围7个月-5年）与基因确认PWS参加。儿童身高和体重，饮食行为的情况下，笔记和家长interview.ResultsWeight标准差分数（SDS）开始超过身高的第一年年底获得的信息。身高SDS似乎从出生时接近正常值下降，直到2年左右稳定在正常值以下。一半的儿童的身体质量指数（BMI）高于正常的采访食物的利益大于他们的同龄人，并在增加年龄适当的饮食首先注意到的年龄是晚于增加的BMI SDS.InterpretationObesity可能会发展之前，增加的兴趣在食物中，这表明潜在的生理因素独立的食欲控制可能是重要的。
AimPrader-Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants is associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS is associated with intellectual disability, hyperphagia, as well as growth and sex hormone deficiency. Little is known about the transition between phenotypes. This study investigates the nature of the change in infancy and childhood PWS.MethodForty-six children (22 females, 24 males; mean age 2y 9mo, SD 18.9mo; range 7mo-5y) with genetically confirmed PWS participated. Information was obtained on childhood height and weight, and eating behaviour from case notes and by parental interview.ResultsWeight standard deviation scores (SDS) started to exceed height by the end of the first year. Height SDS appeared to fall from near normal at birth until stabilizing below normal around 2 years. Half of the children whose body mass index (BMI) was higher than normal at interview had food interests greater than that of their peers, and the age at which increased age-appropriate eating was first noted was later than the increase of BMI SDS.InterpretationObesity may develop before the increased interest in food, suggesting underlying physiological factors independent of appetite control may be important.