Related Experiment Video
Updated: May 16, 2025
Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
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.
Insights
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.
Abstract:
Beckwith-Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp-specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp from the Netherlands, Italy, and the United States. The Generalized Additive Models for Location, Scale, and Shape (GAMLSS) method was employed to develop the following charts: height-for-age, weight-for-age, BMI-for-age, and head circumference-for-age for males and females. Mean height, weight, and head circumference were compared with those of the growth charts generated by the World Health Organization (WHO). Individuals with BWSp show enhanced growth rate during puberty and adolescence, and all growth parameters were increased compared to WHO charts. Mean modeled height at 18 years of age was 180.6 cm for males and 166.3 cm for females (+0.6 SDS and +0.5 SDS, respectively, compared to WHO charts). In conclusion, these growth charts offer valuable insights into the growth patterns in BWSp individuals and provide a key tool for personalized medical care for individuals with BWSp.
