Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Orphanet J Rare Dis. 2020 May 6;15(1):111. doi: 10.1186/s13023-020-01388-7.
Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific growth charts have been recommended for monitoring PWS patients. Previous literature demonstrated growth differences among individuals with PWS of different ethnicity.
A retrospective multicenter study was performed in PWS patients from different areas of Thailand included collaboration with the Thai PWS support group during 2000-2017. Baseline characteristics and anthropometric data were reviewed. Both growth hormone and non-growth hormone received patients were included, but the data after receiving GH were excluded before curve construction. Growth charts for Thai PWS compared to the 50th normative centile were constructed using Generalized Least Squares (GLS) methods. Curve smoothing was performed by Fractional Polynomials and Exponential Transformation.
One hundred and thirteen patients with genetically confirmed PWS (55 males and 58 females) were enrolled. Fifty percent of patients were diagnosed less than 6 months of age. We developed growth charts for non-growth hormone treated Thai children with PWS aged between 0 and 18 years. A growth pattern was similar to other ethnicities while there were some differences. Mean birth weight of PWS patients was less than that of typical newborns. Mean adult height at 18 years of age in Thai children with PWS was lower than that in American children, but taller than Japanese. Mean weight of Thai PWS males at 18 years of age was more than those from other countries.
This study is the first to document PWS-specific growth charts in Southeast Asian population. These growth charts will be useful in improving the quality of patient care and in evaluating the impact of growth hormone treatment in the future.
普拉德-威利综合征（PWS）是一种多系统遗传疾病，具有典型的饮食行为和生长模式。在婴儿期，PWS 患儿体重较低，随后在儿童后期出现食欲过盛。目前推荐使用专门针对疾病的生长图表来监测 PWS 患者。既往文献表明，不同种族的 PWS 患者存在生长差异。
本研究为 2000 年至 2017 年间在泰国不同地区开展的一项回顾性多中心研究，与泰国 PWS 支持小组合作。对患者的基本特征和人体测量学数据进行了回顾。本研究纳入了接受过生长激素和非生长激素治疗的患者，但在构建曲线之前排除了接受生长激素治疗后的相关数据。采用广义最小二乘法（GLS）构建泰国 PWS 患者与第 50 个百分位数相比的生长图表。采用分数多项式和指数变换对曲线进行平滑处理。
本研究共纳入 113 例经基因确诊的 PWS 患者（男性 55 例，女性 58 例），其中 50%的患者在 6 个月龄以内被诊断。本研究为 0 至 18 岁未接受生长激素治疗的泰国 PWS 患儿制定了生长图表。其生长模式与其他种族相似，但也存在一些差异。PWS 患儿的平均出生体重低于典型新生儿。泰国 PWS 患儿 18 岁时的平均成人身高低于美国患儿，但高于日本患儿。泰国 PWS 男性患儿 18 岁时的平均体重高于其他国家的患儿。
本研究首次在东南亚人群中记录了 PWS 特异性生长图表。这些生长图表将有助于提高患者的护理质量，并在未来评估生长激素治疗的效果。
