Neuroimaging of Early Life Epilepsy
Jason Coryell1,2, William D Gaillard3, Renée A Shellhaas4
1Departments of Pediatrics and.
Insights
Neuroimaging is highly effective in diagnosing early life epilepsy (ELE) in children, with structural abnormalities found in 40% of cases. Adherence to neuroimaging guidelines is high in US pediatric centers, supporting their widespread adoption.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Epilepsy Research
Background:
- Early life epilepsy (ELE) diagnosis requires accurate neuroimaging.
- Adherence to established neuroimaging guidelines ensures diagnostic yield.
- Pediatric epilepsy centers manage newly diagnosed children prospectively.
Purpose of the Study:
- To assess adherence to neuroimaging guidelines in ELE.
- To determine the diagnostic yield of neuroimaging in newly presenting ELE.
- To evaluate neuroimaging findings in relation to developmental status and seizure semiology.
Main Methods:
- Prospective cohort study of 775 children with new-onset epilepsy (<3 years old).
- Analysis of neuroimaging types (MRI, CT, ultrasound) and identified abnormalities.
- Correlation of imaging findings with developmental status, seizure types, and genetic testing results.
Main Results:
- 93.5% of children underwent neuroimaging, primarily MRI with seizure protocols.
- Etiologically relevant abnormalities were found in 40% of children.
- Abnormalities were more frequent in children with abnormal development (61%) and specific seizure types (focal, spasms).
- Pathogenic genetic variants were identified in 44% of those with abnormal imaging who underwent genetic testing.
Conclusions:
- Structural abnormalities are common in early life epilepsy.
- Adherence to neuroimaging guidelines is high in US pediatric epilepsy centers.
- Neuroimaging has a high diagnostic yield, even in lower-risk groups, supporting universal guideline adoption.
Objectives:
We assessed the adherence to neuroimaging guidelines and the diagnostically relevant yield of neuroimaging in newly presenting early life epilepsy (ELE).
Methods:
There were 775 children with a new diagnosis of epilepsy (<3 years old at onset) who were recruited through the ELE study at 17 US pediatric epilepsy centers (2012-2015) and managed prospectively for 1 year. The data were analyzed to assess the proportion of children who underwent neuroimaging, the type of neuroimaging, and abnormalities.
Results:
Of 725 children (93.5%) with neuroimaging, 714 had an MRI (87% with seizure protocols) and 11 had computed tomography or ultrasound only. Etiologically relevant abnormalities were present in 290 individuals (40%) and included: an acquired injury in 97 (13.4%), malformations of cortical development in 56 (7.7%), and other diffuse disorders of brain development in 51 (7.0%). Neuroimaging was abnormal in 160 of 262 (61%) children with abnormal development at diagnosis versus 113 of 463 (24%) children with typical development. Neuroimaging abnormalities were most common in association with focal seizure semiology (40%), spasms (47%), or unclear semiology (42%). In children without spasms or focal semiology with typical development, 29 of 185 (16%) had imaging abnormalities. Pathogenic genetic variants were identified in 53 of 121 (44%) children with abnormal neuroimaging in whom genetic testing was performed.
Conclusions:
Structural abnormalities occur commonly in ELE, and adherence to neuroimaging guidelines is high at US pediatric epilepsy centers. These data support the universal adoption of imaging guidelines because the yield is substantially high, even in the lowest risk group.
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