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Mortality in babies with achondroplasia: revisited
Kristen Simmons1, S Shahrukh Hashmi, Angela Scheuerle
1Pediatric Research Center, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.
Summary
Mortality in children with achondroplasia remains high, particularly in infancy, despite some improvements. Further research is needed to assess long-term survival impacts of interventions for this genetic condition.
Area of Science:
- Genetics and genomics
- Pediatric health
- Public health and epidemiology
Background:
- Previous studies 30 years ago indicated higher mortality in children with achondroplasia, leading to recommendations for improved care.
- This study aimed to re-evaluate achondroplasia mortality rates in recent decades.
Purpose of the Study:
- To determine if mortality rates for children with achondroplasia have changed over the past few decades.
- To compare current mortality data with historical data and general population rates.
Main Methods:
- Identified 106 children born with achondroplasia in Texas (1996-2003) using the Birth Defects Registry.
- Matched birth data with death certificates through 2007.
- Calculated crude and standardized infant and overall mortality rates.
Main Results:
- Four deaths occurred within the first year of life, yielding an infant mortality rate of 41.4/1000 live births.
- Standardized infant mortality was higher when compared to the 2005 U.S. population (SMR2005: 6.02) than the 1975 population (SMR1975: 2.58).
- The SMR2005 was significantly higher than the SMR1975, indicating a potential discrepancy in mortality trends.
Conclusions:
- While overall mortality has improved, especially after infancy, children with achondroplasia still face significantly higher mortality risks than the general population.
- The higher standardized mortality ratio in 2005 compared to 1975 suggests a divergence in survival trends.
- Longer follow-up is necessary to ascertain the impact of interventions on long-term survival in achondroplasia patients.
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