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Growth Charts for Children With Beckwith-Wiedemann Spectrum
Saskia M Maas1,2, Peter Lauffer1, Guido Cocchi3
1Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
American Journal of Medical Genetics. Part A
|April 4, 2025
Summary
Beckwith-Wiedemann spectrum (BWSp) is an overgrowth disorder. New BWSp-specific growth charts show increased height, weight, and head circumference compared to WHO standards, aiding personalized care.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Beckwith-Wiedemann spectrum (BWSp) is a genetic overgrowth disorder.
- It results from epigenetic alterations on chromosome 11p15.
- Understanding growth patterns is crucial for managing BWSp.
Purpose of the Study:
- Develop specific growth charts for individuals with BWSp.
- Analyze genotype/phenotype correlations related to growth.
- Establish reference standards for BWSp growth parameters.
Main Methods:
- Retrospective data collection from 581 BWSp individuals across three countries.
- Utilized Generalized Additive Models for Location, Scale, and Shape (GAMLSS) for chart development.
- Generated height-for-age, weight-for-age, BMI-for-age, and head circumference-for-age charts for both sexes.
Main Results:
- BWSp individuals exhibit an enhanced growth rate during puberty and adolescence.
- All measured growth parameters were significantly increased compared to World Health Organization (WHO) charts.
- Modeled mean height at 18 years was 180.6 cm for males and 166.3 cm for females (0.6 and 0.5 SDS above WHO, respectively).
Conclusions:
- The developed BWSp growth charts provide essential insights into growth trajectories.
- These charts serve as a vital tool for personalized medical management of BWSp.
- The findings highlight distinct growth patterns in BWSp compared to the general population.
