Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies
Table 3
Length of diagnostic odyssey for four patients with EOEE.
Patient
Age at first presentation of symptoms
Age when blood was drawn for WES
Age at final genetic diagnosis
Length of diagnostic odyssey
Change in medical management or familial impact
C1
4 months
6.7 years
7.0 years
6.3 years
Change in physical therapy
C2
4 months
8.3 years
8.6 years
8.2 years
Change in physical therapy
C3
72 days
1.2 years
1.7 years
1.4 years
Repeated changes in formula to help growth were stopped when it became apparent that patients with KARS have progressive microcephaly and failure to thrive. Genetic results utilized for prenatal genetic testing on subsequent pregnancy
C4
3 months
1.8 years
2.1 years
1.8 years
Parental anxiety reduced; parents were able to change medications