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Achondroplasia is associated with increased occurrence of apparent life-threatening events
Janet M Legare1, Cory J Smid2, Peggy Modaff1
1University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Insights
Infants with achondroplasia have a high risk of apparent life-threatening events (ALTEs), often presenting as apnea or seizures in the first year of life. Evaluation should include neuroimaging and respiratory monitoring.
Area of Science:
- Pediatric genetics
- Neurology
- Critical care medicine
Background:
- Achondroplasia is a common skeletal dysplasia.
- Infants with achondroplasia may be at increased risk for cardiorespiratory and neurological complications.
- Apparent life-threatening events (ALTEs) require thorough evaluation in this population.
Purpose of the Study:
- To characterize the clinical presentation of ALTEs in infants with achondroplasia.
- To identify risk factors and common etiologies for ALTEs in this cohort.
- To provide evidence-based guidance for the evaluation of infants with achondroplasia following an ALTE.
Main Methods:
- Retrospective review of 477 individuals with achondroplasia.
- Data collection on ALTEs using a REDCap database.
- Analysis of event timing, presentation, and subsequent medical interventions.
Main Results:
- ALTEs occurred in 3.8% of infants within the first year of life.
- Most events (78%) occurred within the first 6 months, presenting as apnea and/or seizures.
- Craniocervical junction abnormalities and seizures were common findings, leading to interventions like decompression and anti-epileptic medication.
Conclusions:
- Infants with achondroplasia are at significant risk for ALTEs.
- Comprehensive evaluation post-ALTE is crucial, including neuroimaging, respiratory monitoring, EEG, and car seat testing.
- Early identification and intervention can mitigate risks associated with ALTEs in achondroplasia.
Aim:
To assess the clinical picture underlying apparent life-threatening events (ALTEs) occurring in infants with achondroplasia and provide guidance for evaluation after an event.
Methods:
A population of 477 individuals with achondroplasia was retrospectively reviewed, and information regarding possible ALTEs was recorded in a REDCap database.
Results:
ALTEs occurred in the first year of life in 18 of 477 individuals (3.8%). Most (14/18, 78%) occurred in the first 6 months of life and presented as episodes of apnoea and/or seizures. Of affected infants, 8/18 (44%) had more than one episode. Many of the initial ALTEs arose while infants were in car seats (11/18, 61%). Assessment following ALTEs most often demonstrated either craniocervical junction concerns and/or seizures, with 12/18 (67%) patients undergoing cervicomedullary decompression and 5/18 (28%) starting on anti-epileptic medications after the event.
Conclusion:
Although this study is limited in size and was retrospective, it shows that infants with achondroplasia appear to be at high risk for ALTEs. Evaluation after an event should include neuroimaging of the foramen magnum, inpatient hospital observation including respiratory monitoring and electroencephalography, and a car seat challenge.
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