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Craniocervical junction issues after infancy in achondroplasia.
Cory J Smid1,2, Janet M Legare1,3, Peggy Modaff1,3
1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
American Journal of Medical Genetics. Part A
|October 26, 2020
Summary
Craniocervical junction issues in achondroplasia are less common after infancy, with most patients experiencing normal outcomes. This study quantifies risks and outcomes in individuals over one year old.
Area of Science:
- Orthopedics
- Neurology
- Genetics
Background:
- Craniocervical junction issues are a known concern in achondroplasia, particularly during infancy.
- Limited data exists on the risks and long-term outcomes of these issues in older children and adults with achondroplasia.
Purpose of the Study:
- To quantify the risk of craniocervical junction issues in individuals with achondroplasia older than one year.
- To evaluate the outcomes and need for surgical intervention in this population.
Main Methods:
- Retrospective analysis of 477 individuals with achondroplasia using a REDCap database.
- Identification of neurologic manifestations related to the craniocervical junction after one year of age.
- Assessment of outcomes, including surgical decompression and long-term neurological sequelae.
Main Results:
- 16.1% of individuals (77/477) experienced neurologic manifestations related to the craniocervical junction after age one.
- 9.0% of the total population (43/477) underwent craniocervical decompression surgery.
- Most individuals (74.0%) with craniocervical junction issues after infancy had normal outcomes without long-term neurological sequelae.
Conclusions:
- Craniocervical junction issues requiring intervention are less frequent in achondroplasia beyond infancy.
- The majority of individuals with achondroplasia and craniocervical junction issues after infancy achieve favorable neurological outcomes.
- This study provides the first cohort-based risk estimate for upper cervical spine issues in achondroplasia beyond infancy.
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