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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.
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.
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