Growth patterns in individuals with CDKL5 deficiency disorder

被引:2
作者
Wong, Kingsley [1 ]
Davies, George [2 ]
Leonard, Helen [1 ]
Downs, Jenny [1 ]
Junaid, Mohammed [1 ]
Amin, Sam [2 ]
机构
[1] Telethon Kids Inst, Perth, WA, Australia
[2] Univ Hosp Bristol & Weston, Dept Paediat Neurol, Bristol BS2 8AE, England
关键词
GASTROSTOMY; MUTATIONS; CHILDREN;
D O I
10.1111/dmcn.15777
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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] -0.65, 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.
引用
收藏
页码:469 / 482
页数:14
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