AIM To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. METHOD The longitudinal study included 353 individuals from the International CDKL5 Disorder Database with any anthropometric measurement in baseline and/or follow-up questionnaires. The British 1990 growth reference was used to determine the age- and sex-standardized z-score. Repeated cross-sectional data were fitted using a Gaussian linear regression model with generalized estimating equations. RESULTS All growth parameters were below the general population norm (mean z-scores: weight -0.97, height -0.65, body mass index [BMI] -0.81, head circumference -2.12). The disparity was particularly pronounced for all anthropometric measurements after 4 years of age except for BMI. Moreover, individuals with gastrostomy placement were shown to have a larger decrease than those without. INTERPRETATION In addition to weight, height, and BMI, head circumference was also compromised in this disorder. Microcephaly could be considered a helpful diagnostic feature, especially in adults. Any benefit of gastrostomy on weight and BMI was mainly seen in the early years.

中文翻译：

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CDKL5 缺乏症患者的生长模式。

目的 将细胞周期蛋白依赖性激酶样 5 (CDKL5) 缺乏症患者的生长情况与正常人群进行比较，并研究胃造口术对生长的影响。方法 这项纵向研究包括来自国际 CDKL5 疾病数据库的 353 名个体，并在基线和/或后续问卷中进行了任何人体测量。英国 1990 年生长参考用于确定年龄和性别标准化 z 分数。使用具有广义估计方程的高斯线性回归模型来拟合重复的横截面数据。结果 所有生长参数均低于一般人群标准（平均 z 得分：体重 -0.97、身高 -0.65、体重指数 [BMI] -0.81、头围 -2.12）。除 BMI 外，4 岁后所有人体测量值的差异尤其明显。此外，接受胃造口术的患者比没有接受胃造口术的患者下降幅度更大。解释 除了体重、身高和 BMI 之外，头围也受到这种疾病的影响。小头畸形可能被认为是一种有用的诊断特征，尤其是对于成人。胃造口术对体重和体重指数的任何好处主要是在早年看到的。