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Growth patterns in individuals with CDKL5 deficiency disorder
Kingsley Wong1, George Davies2, Helen Leonard1
1Telethon Kids Institute, Perth, Western Australia, Australia.
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.
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