Slide 1: Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over a 3-year program in Europe and the Middle East Akashdeep Singh1, Kimberly Gall2, Emanuela Izzo1, Kirsi Alakurtti2, Eija H. Seppala2, Lotta Koskinen2, Juha Koskenvuo2, Tero-Pekk
Slide 2: Background and Methods
Background and Methods Background • Seizure disorders are among the most common neurological conditions presenting in childhood • Molecular diagnosis and confirmation provides the potential for etiologically-based treatment and management • Existing research on the diagnostic yield and clinical util
Slide 3: Results
Results • Results are reported from 748 patients in Europe and the Middle East tested between November 2017 and December 2020 – Median age at testing was 38 months – Median age at first seizure onset was 27 months – Average time from first seizure to genetic testing was 9 months • A genetic diagnosi
Slide 4: Results
Results • The most frequent molecular diagnoses included SCN1A (N=17), • Over 60% of diagnosed patients had a disorder for which there MECP2 (n=13), and TPP1 (CLN2; n=13) are possible clinical management implications – CLN2 disease patients received a molecular diagnosis at an Gene Conditions (MDx)
Slide 5: Conclusions
Conclusions • This study demonstrates a high diagnostic yield (19.5%) in pediatric patients with first unprovoked seizure after 2 years of age and at least one other neurological abnormality • These findings support the addition of TPP1 and genes linked to other NCLs and inborn errors of metabolism