Telethon Kids Institute, Perth, Western Australia, Australia.
Department of Paediatric Neurology, University Hospitals Bristol and Weston, Bristol, UK.
Dev Med Child Neurol. 2024 Apr;66(4):469-482. doi: 10.1111/dmcn.15777. Epub 2023 Oct 7.
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.
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.
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.
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.
比较环磷酸腺苷依赖性激酶样 5（CDKL5）缺乏症患者的生长情况与人群正常值，并探讨胃造口术对生长的影响。
这项纵向研究纳入了国际 CDKL5 疾病数据库中的 353 名个体，他们在基线和/或随访问卷中有任何人体测量数据。使用英国 1990 年生长参考标准来确定年龄和性别标准化 z 评分。使用广义估计方程的高斯线性回归模型拟合重复横截面数据。
所有生长参数均低于一般人群正常值（平均 z 评分：体重-0.97、身高-0.65、体重指数[BMI]-0.81、头围-2.12）。除 BMI 外，4 岁后所有人体测量指标的差异均特别明显。此外，与未行胃造口术的患者相比，行胃造口术的患者下降幅度更大。
除体重、身高和 BMI 外，该疾病还会影响头围。小头畸形可被视为一种有帮助的诊断特征，尤其是在成人中。胃造口术对体重和 BMI 的任何益处主要见于早期。
