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Growth reference charts for children with hypochondroplasia
Moira S Cheung1, Tim J Cole2, Paul Arundel3
1Great Ormond Street Hospital for Children, London, UK.
Insights
Growth charts for children with hypochondroplasia (HCH) were developed to address a lack of specific references. These HCH growth charts provide crucial benchmarks for monitoring development and identifying comorbidities.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Hypochondroplasia (HCH) is a rare skeletal dysplasia characterized by mild short stature.
- Existing growth reference charts are inadequate for children diagnosed with HCH.
- Accurate growth monitoring is essential for managing HCH and identifying potential comorbidities.
Purpose of the Study:
- To generate specific growth reference charts for height, weight, and head circumference (HC) in children with HCH.
- To establish benchmarks for assessing growth and development in this population.
- To provide a foundation for future research and clinical trials in HCH.
Main Methods:
- Collection of mixed longitudinal anthropometric data and genetic analysis from 14 European centers.
- Generation of growth charts using Generalized Additive Models for Location, Scale, and Shape.
- Inclusion of data from 188 children (0-18 years) with HCH, with genetic confirmation in 92% identifying FGFR3 variants.
Main Results:
- Developed HCH-specific growth charts for height, weight, and HC.
- Charts include seven centiles (2nd-98th) for ages 0-4 and 0-16 years.
- Data comprised 983 height, 896 weight, and 389 HC measurements.
Conclusions:
- HCH-specific growth charts are vital for clinical management.
- These charts aid in identifying growth-affecting comorbidities.
- They serve as essential benchmarks for interventional research in HCH.
Abstract:
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0-18 years. Of the 84 children who underwent genetic testing, a pathogenic variant in FGFR3 was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0-4 and 0-16 years. HCH-specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.
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