Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, UK.
Dev Med Child Neurol. 2010 Jun;52(6):e88-93. doi: 10.1111/j.1469-8749.2009.03530.x. Epub 2009 Dec 23.
Prader-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.
Forty-six children (22 females, 24 males; mean age 2 y 9 mo, SD 18.9 mo; range 7 mo-5 y) with genetically confirmed PWS participated. Information was obtained on childhood height and weight, and eating behaviour from case notes and by parental interview.
Weight 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.
Obesity may develop before the increased interest in food, suggesting underlying physiological factors independent of appetite control may be important.
普拉德-威利综合征（PWS）是一种遗传性疾病，其特征在历史上有两个表型阶段。婴儿期的早期表型与低张力、吸吮不良和生长不良有关。在后期儿童期，PWS 与智力残疾、贪食以及生长和性激素缺乏有关。关于表型之间的转变知之甚少。本研究调查了婴儿期和儿童期 PWS 变化的性质。
46 名儿童（22 名女性，24 名男性；平均年龄 2 岁 9 个月，标准差 18.9 个月；年龄范围 7 个月-5 岁）参与了这项研究，他们均患有遗传性确认的 PWS。通过病历和家长访谈获得了有关儿童期身高和体重以及饮食行为的信息。
体重标准差评分（SDS）在第一年结束时开始超过身高。身高 SDS 似乎从出生时接近正常下降到 2 岁左右稳定在正常以下。在接受采访时 BMI 高于正常的一半的孩子对食物的兴趣大于同龄人，并且首次注意到增加的年龄适当的进食的年龄晚于 BMI SDS 的增加。
肥胖可能在对食物的兴趣增加之前就出现了，这表明独立于食欲控制的潜在生理因素可能很重要。
