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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.

Developmental Medicine and Child Neurology

|October 7, 2023

Summary

Individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder exhibit impaired growth, particularly head circumference, compared to population norms. Gastrostomy offered limited, early benefits for weight and BMI in CDKL5 disorder patients.

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Area of Science:

Genetics and developmental disorders
Pediatric growth and development
Clinical nutrition

Background:

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is a rare genetic condition affecting brain development.
Growth abnormalities are frequently observed in individuals with CDKL5 deficiency disorder.
The impact of nutritional interventions, such as gastrostomy, on growth in this population requires further investigation.

Purpose of the Study:

To compare anthropometric measurements (weight, height, BMI, head circumference) in individuals with CDKL5 deficiency disorder against population norms.
To evaluate the effect of gastrostomy tube placement on the growth parameters of individuals with CDKL5 deficiency disorder.

Main Methods:

A longitudinal study utilizing data from 353 individuals in the International CDKL5 Disorder Database.
Age- and sex-standardized z-scores were calculated using the British 1990 growth reference.
Gaussian linear regression models with generalized estimating equations were employed to analyze repeated cross-sectional data.

Main Results:

All measured growth parameters, including weight, height, BMI, and head circumference, were significantly below population norms (mean z-scores: -0.97, -0.65, -0.81, and -2.12, respectively).
Growth deficits, except for BMI, were more pronounced after the age of 4 years.
Individuals with gastrostomy experienced a greater decline in growth parameters compared to those without.

Conclusions:

CDKL5 deficiency disorder is associated with compromised growth across weight, height, BMI, and notably, head circumference.
Microcephaly may serve as a valuable diagnostic indicator for CDKL5 deficiency disorder, particularly in adults.
Gastrostomy placement demonstrated a transient benefit on weight and BMI, primarily observed during the early years of life.