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Standardized growth charts for children with osteogenesis imperfecta
Marie-Eve Robinson1,2, Damian Rauch3, Francis H Glorieux3
1Shriners Hospital for Children - Canada, McGill University, Montreal, QC, Canada. mrobinson@cheo.on.ca.
Insights
New growth charts for Osteogenesis Imperfecta (OI) provide type- and sex-specific height data for children. These charts help track growth from infancy to adulthood, addressing a critical gap in OI care.
Area of Science:
- Pediatric endocrinology
- Skeletal dysplasias
- Medical genetics
Background:
- Osteogenesis Imperfecta (OI) is characterized by short stature, varying by type (mild, moderate, severe).
- Existing pediatric growth charts lack specificity for OI types and sex.
- There is a need for standardized growth assessment tools for individuals with OI.
Purpose of the Study:
- To develop standardized, type- and sex-specific growth charts for Osteogenesis Imperfecta (OI) across all pediatric ages.
- To provide clinicians with tools for monitoring growth in children with OI.
- To generate height multiplier curves for predicting adult height in OI patients.
Main Methods:
- Collected height data from 573 individuals with OI (types I, III, IV) aged 3 months to 20 years (6523 observations).
- Generated OI type- and sex-specific growth charts for infants and children/adolescents using the LMS method.
- Smoothed percentile curves for accurate growth assessment.
Main Results:
- Age-related decline in height z-scores was observed across all OI types, more pronounced in females.
- Developed type- and sex-specific growth charts for OI from infancy through adolescence.
- Created height multiplier curves to predict adult height for children with OI.
Conclusions:
- The newly developed standardized growth charts enable comprehensive growth assessment for individuals with OI from infancy to adulthood.
- These charts address a significant unmet need in the clinical management of Osteogenesis Imperfecta.
- The study provides the first set of OI-specific growth charts for pediatric populations.
Background:
Osteogenesis imperfecta (OI) is associated with short stature, which is mild, severe and moderate in OI types I, III and IV, respectively. Standardized OI type- and sex-specific growth charts across all pediatric ages do not exist.
Methods:
We assessed 573 individuals with OI (type I, III or IV), each with at least one height measurement between ages 3 months and 20 years (total 6523 observations). Analogous to the Centers for Disease Control pediatric growth charts, we generated OI type- and sex-specific growth charts for infants (ages 3-36 months) as well as children and adolescents (ages 2-20 years). Growth curves were fitted to the data using the LMS method and percentiles were smoothed.
Results:
Age was associated with a decline in height z-scores (p < 0.001 for all OI types), which was more pronounced in females. Height multiplier curves were produced to predict adult height in children with OI. Among individuals with OI type I, those with COL1A1 pathogenic variants leading to haploinsufficiency were taller than those with COL1A1 or COL1A2 pathogenic variants not leading to haploinsufficiency.
Conclusion:
Our standardized OI type- and sex-specific growth charts can be used to assess the growth of individuals with OI from infancy to adulthood.
Impact:
Standardized osteogenesis imperfecta (OI) type- and sex-specific growth charts across all pediatric ages do not exist. Our study is the first to generate OI type- and sex-specific growth charts across all pediatric ages. Our height multiplier curves can be utilized to predict adult height in children with OI.
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