TABLE 2.
Demographic data for individuals with CDD compared with those with other infantile-onset epilepsies with a suspected or defined genetic etiology
| Demographic 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 | |||
| Sex | <0.001 | <0.001 | <0.001 | ||||
| Female | 110 (80.3) | 156 (49.8) | 105 (51.7) | 51 (46.4) | |||
| Male | 27 (19.7) | 157 (50.2) | 98 (48.3) | 59 (53.6) | |||
| Gestational age | 0.927 | 0.819 | 0.913 | ||||
| Preterm | 12 (10.7)a | 37 (12.1) | 25 (12.6) | 12 (11.1) | |||
| Full term | 100 (92.0) | 268 (87.3) | 173 (86.9) | 95 (88.0) | |||
| Post term | 0 | 2 (0.7) | 1 (0.5) | 1 (0.9) | |||
| Median age at epilepsy onset, months | 1.44 (IQR 0.72–2.04) | 3.96 (IQR 1.2–6.70) | <0.001 | 3.96 (IQR 2.04–7.00) | <0.001 | 3.96 (IQR 0.36–6) | <0.001 |
| Median age at last follow–up, years:months | 3:11 (IQR 2:1–11:8) | 5:2 (IQR 2:6–9:11) | 0.526 | 5:8 (IQR 2:8–10:6) | 0.223 | 4:6 (IQR 2:4–8:1) | 0.618 |
| Race | 0.041 | 0.035 | 0.128 | ||||
| American Indian/Alaska Native | 0 | 1 (0.3)a | 0 | 1 (0.9)a | |||
| Asian | 8 (5.8) | 24 (7.7) | 17 (8.3) | 7 (6.4) | |||
| Black or African American | 3 (2.2) | 24 (7.7) | 15 (7.4) | 9 (8.2) | |||
| Native Hawaiian or Other Pacific Islander | 0 | 2 (0.6) | 2 (1.0) | 0 (0.0) | |||
| White | 108 (78.8) | 212 (67.7) | 135 (66.5) | 77 (70.0) | |||
| More than one race | 4 (2.9) | 3 (1.0) | 2 (1.0) | 1 (0.9) | |||
| Unknown or not reported | 14 (10.2) | 47 (15.0) | 32 (15.8) | 15 (13.6) | |||
| Ethnicity | 0.108 | 0.024 | 0.886 | ||||
| Hispanic or Latino | 15 (10.0) | 40 (12.8)a | 27 (13.3) | 13 (11.8)a | |||
| Not Hispanic or Latino | 117 (85.4) | 245 (78.3) | 153 (75.4) | 92 (83,6) | |||
| Unknown or not reported | 5 (3.6) | 28 (8.9) | 23 (11.3) | 5 (4.6) | |||
| Mortality | 9 (6.6) | 18 (5.8)b | <0.001 | 9 (4.4)b | <0.001 | 9 (8.2) | <0.001 |
The p-values were calculated from χ2, Fisher’s exact, or Wilcoxon rank-sum tests with a significance threshold of 0.05 compared with the CDD cohort. Significant p-values and associated demographic features are set in bold type. Race and ethnicity are categories defined by the National Institute of Health in the US at the time of data collection.
Features with missing data >10% noted
11–19% missing
30–39% missing.
Abbreviations: CDD, CDKL5 deficiency disorder; CDKL5, cyclin-dependent kinase-like 5; IQR, interquartile range.