Hoover-Fong J E, McGready J, Schulze K J, Barnes H, Scott C I
Johns Hopkins University, Baltimore, Maryland 21287, USA.
Am J Med Genet A. 2007 Oct 1;143A(19):2227-35. doi: 10.1002/ajmg.a.31873.
To develop accurate weight for age charts for individuals with achondroplasia. These novel weight for age, gender-specific growth curves for achondroplasia patients from birth through 16 years were constructed from a longitudinal, retrospective, single observer cohort study of 334 individuals with achondroplasia. Weight for age data from 301 subjects in this achondroplasia cohort, constituting 1,964 total weight measurements, are presented in these weight for age curves. Percentiles (5, 25, 50, 75, 95th) were estimated across the age continuum by gender, using a 1 month window (+/-0.5 months) around each time point of interest. Percentiles were smoothed using a quadratic, penalized smoother by a semi-parametric model approach. Raw weight data from the achondroplasia cohort are compared to that of average stature children presented in the current CDC growth curves, divided into 0-36 months and 2-16 years. There was overlap of birth weight between achondroplasia and average stature infants. This statistical modeling method can be applied to other anthropometric parameters collected from this achondroplasia cohort (e.g., length, BMI), other skeletal dysplasia diagnoses, and to syndromic, non-skeletal dysplasia diagnoses which may benefit from standardization of weight for age.
为患有软骨发育不全的个体制定准确的年龄别体重图表。这些针对软骨发育不全患者从出生到16岁的新颖的年龄别、按性别划分的生长曲线,是通过对334名软骨发育不全个体进行的纵向、回顾性、单观察者队列研究构建而成的。这些年龄别体重曲线展示了该软骨发育不全队列中301名受试者的年龄别体重数据,共计1964次体重测量值。通过在每个感兴趣的时间点周围使用1个月的窗口(±0.5个月),按性别在整个年龄范围内估计百分位数(第5、25、50、75、95百分位数)。使用半参数模型方法通过二次惩罚平滑器对百分位数进行平滑处理。将软骨发育不全队列的原始体重数据与当前疾病控制与预防中心(CDC)生长曲线中呈现的平均身高儿童的数据进行比较,后者分为0 - 36个月和2 - 16岁两个年龄段。软骨发育不全婴儿与平均身高婴儿的出生体重存在重叠。这种统计建模方法可应用于从该软骨发育不全队列收集的其他人体测量参数(例如身长、体重指数)、其他骨骼发育异常诊断,以及可能受益于年龄别体重标准化的综合征性、非骨骼发育异常诊断。