Table 1. Testing Outcome Stratified by Cohort Clinical Characteristics.
| Cohort | Patients, No. (% Category) | Category Total (% All Cohort) | P Value | ||
|---|---|---|---|---|---|
| With Diagnostic Findings (n = 27) | With Likely Diagnostic and Inconclusive Findings | No Reportable Findings | |||
| Age at seizure onset | |||||
| Neonatal (0-1 mo) | 1 (12.5) | 6 (75.0) | 1 (12.5) | 8 (5.3) | <.001a |
| Infancy (1 mo-1 y) | 17 (38.6) | 16 (36.4) | 11 (25.0) | 44 (29.1) | |
| Toddler (1-3 y) | 8 (16.0) | 28 (56.0) | 14 (28.0) | 50 (33.1) | |
| Early childhood (3-5 y) | 0 | 12 (50.0) | 12 (50.0) | 24 (15.9) | |
| Middle childhood (6-11 y) | 1 (5.3) | 11 (57.9) | 7 (36.8) | 19 (12.6) | |
| Adolescent (12-18 y) | 0 | 4 (66.7) | 2 (33.3) | 6 (4.0) | |
| Phenotype | |||||
| Seizure only | 12 (14.6) | 43 (52.4) | 27 (32.9) | 82 (54.3) | .52 |
| Seizure plusb | 15 (21.7) | 34 (49.3) | 20 (29.0) | 69 (45.7) | |
| Seizure type | |||||
| Focal | 12 (19.7) | 30 (49.2) | 19 (31.1) | 61 (40.4) | .25 |
| Generalized | 6 (12.2) | 27 (55.1) | 16 (32.7) | 49 (32.5) | |
| Mixed | 9 (35) | 10 (38) | 7 (27) | 26 (17.2) | |
| Febrile | 0 | 1 (100) | 0 | 1 (0.06) | |
| Unknown | 0 | 9 (64.3) | 5 (35.7) | 14 (9.3) | |
| Brain MRI | |||||
| With findingsc | 15 (25.9) | 24 (41.4) | 19 (32.8) | 58 (38.4) | .19 |
| No findings | 12 (15.4) | 43 (55.1) | 23 (29.5) | 78 (51.7) | |
| Not determined | 0 | 10 (66.7) | 5 (33.3) | 15 (9.9) | |
| Family history | |||||
| Positive | 7 (14.0) | 30 (60.0) | 13 (26.0) | 50 (33.1) | .19 |
| Negative | 20 (22.7) | 39 (44.3) | 29 (33.0) | 88 (58.3) | |
| Unknown | 0 | 8 (61.5) | 5 (38.5) | 13 (8.6) | |
Abbreviation: MRI, magnetic resonance imaging.
a
Williams correction applied.
b
Includes patients presenting with developmental and behavioral phenotypes, such as developmental delay, developmental regression, speech or language delay, attention-deficit/hyperactivity disorder or autism.
c
Includes any abnormality identified by MRI.