TABLE 3.
Epilepsy and seizure data for individuals with CDD compared with those with other infantile-onset epilepsies with a suspected or defined genetic etiology
| Clinical feature | CDD | Other infantile-onset epilepsies | p | Other infantile-onset no genetic diagnosis | p | Other infantile-onset confirmed genetic epilepsies | p | |
|---|---|---|---|---|---|---|---|---|
|
| ||||||||
| n (%) | n (%) | n (%) | n (%) | |||||
| Total cohort | 137 | 313 | 203 | 110 | ||||
| Developmental and epileptic encephalopathy (≥1 year) | 71 (64.0) | 187 (65.4) | 0.815 | 125 (68.3) | 0.447 | 62 (6.2) | 0.576 | |
| Treatment-resistant epilepsy | 82 (95.3) b | 217 (70.5) | <0.001 | 138 (69.7) | <0.001 | 79 (71.8) | <0.001 | |
| History of status epilepticus | 6 (7.1) b | 91 (29.2) | <0.001 | 57 (28.2) | <0.001 | 34 (30.9) | <0.001 | |
| Epilepsy type | <0.001 | <0.001 | <0.001 | |||||
| Focal | 10 (8.4) a | 103 (35.9) | 56 (30.8) | 47 (44.8) | ||||
| Generalized/mixed | 109 (91.6) | 184 (64.1) | 126 (69.2) | 58 (55.2) | ||||
| Seizures with multiple phases | 60 (45.8) | 18 (5.9) | <0.001 | 12 (6.1) | <0.001 | 6 (5.6) | <0.001 | |
| Seizure types | ||||||||
| Generalized motor | 113 (82.5) | 177 (56.9) | <0.001 | 123 (60.6) | <0.001 | 54 (50.0) | <0.001 | |
| Generalized non-motor | 16 (11.9) | 39 (12.6) | 0.851 | 24 (11.9) | 1.000 | 15 (13.8) | 0.672 | |
| Focal motor | 65 (48.5) | 181 (57.8) | 0.070 | 103 (50.7) | 0.688 | 78 (70.9) | <0.001 | |
| Focal non-motor | 15 (11.6) | 105 (33.8) | <0.001 | 63 (31.2) | <0.001 | 42 (38.5) | <0.001 | |
| Epileptic spasms (generalized, focal, or unknown) | 90 (65.7) | 131 (41.9) | <0.001 | 97 (47.8) | 0.001 | 34 (30.9) | <0.001 | |
| Any EEG encephalopathy pattern | 81 (87.1) b | 222 (71.8) | 0.003 | 150 (74.6) | 0.015 | 72 (66.7) | <0.001 | |
| Burst suppression | 3 (3.2) | 17 (5.5) | 0.143 | 9 (4.4) | 0.374 | 8 (7.4) | 0.067 | |
| Hypsarrhythmiad | 27 (30.0) | 63 (48.1) | 0.007 | 50 (51.5) | 0.003 | 13 (38.2) | 0.382 | |
| Generalized slowing with multifocal sharp waves | 42 (45.2) | 113 (36.6) | 0.263 | 77 (37.9) | 0.168 | 36 (33.3) | 0.728 | |
| Slow spike and wave with or without fast activity | 11 (11.8) | 10 (3.2) | 0.025 | 8 (3.9) | 0.148 | 2 (1.9) | 0.042 | |
| ESES | 0 | 1 (0.3) | 1.000 | 1 (0.5) | 1.000 | 0 | N/A | |
| Other | 33 (35.4) | 59 (19.1) | 0.205 | 34 (16.7) | 0.095 | 25 (23.1) | 0.802 | |
The p-values were calculated from χ2 or Fisher’s exact tests compared with the CDD cohort. Significant clinical features are set in bold type after Benjamini–Hochberg correction on the basis of a false discovery rate of 0.2.
Features with missing data >10% noted
11–19% missing
30–39% missing.
Rate of hypsarrhythmia was calculated only for those with reported spasms. Rates of other EEG patterns were calculated out of the total number with a known EEG encephalopathy pattern.
Abbreviations: CDD, CDKL5 deficiency disorder; CDKL5, cyclin-dependent kinase-like 5; EEG, electroencephalogram; ESES, electrical status epilepticus during slow wave sleep; N/A, not applicable.