Table 2:
Univariate Cox Regression Models for the Association of Neuropsychiatric and Developmental Disorders among Individuals with a 22q11.2 Deletion or Duplication
| 22qll.2 deletion | 22qll.2 duplication | Mantel-Hanzel p-valueb | Concordance index (95% Cl)c | |||||
|---|---|---|---|---|---|---|---|---|
| HR | (95% Cl) | P | HR | (95% Cl) | P | |||
| Attention- | ||||||||
| Deficit/Hyperactivity | 2·60 | (0·87, 7·73) | 0·09 | 4·01 | (2·15, 7·45) | 1·17 × l0‒5 | 6·04E-06 | 0·77 (0·68, 0·87) |
| Disorder | ||||||||
| Autism spectrum disorder | 2·95 | (112, 7·80) | 0·03 | 3·81 | (1·93, 7·50) | 0·0001 | 1·27E-06 | 0·78 (0·68, 0·88) |
| Depression | 1·01 | (0·28,3·71) | 0·99 | 2·16 | (0·99,5·06) | 0·08 | 0·44 | 0·63 (0·47, 0·79) |
| Schizophrenia | 2·24 | (0·45,12·15) | 0·35 | 1·90 | (0·53, 7·37) | 0·36 | 0·27 | 0·71 (0·49, 0·93) |
| Intellectual Disability | 71·56 | (25·34, 202·10) | 7·77 × 10‒16 | 20·71 | (5·19,82·65) | 1·77 × l0‒5 | <2E-16 | 0·98 (0·97, 1·00) |
| Moderate to severe Intellectual disability | 82·44 | (21·82, 311.50) | 7·77 × 10‒11 | 32·16 | (8·08, 128·00) | 8·47 × l0‒7 | <2E-16 | 0·98 (0·95, 1·00) |
| Epilepsya | 28·41 | (10·82, 74·58) | 1·06 × 10‒11 | - | - | - | <2E-16 | 0·87 (0·73, 1·00) |
Association analysis was left out since no duplication carriers were epileptic.
P-value for Mantel-Cox non-parametric test of differences in survival curves, using survdiff function from R package survival
Concordance index computed for deletions/duplications simultaneously using concordance.index function from R package survcomp, stratifying on gender and with inverse probability of sampling weights. All analyses are performed as univariate Cox proportional hazard regression stratifying by gender and adjusting for the population prevalence for each disease (except for Epilepsy, and Intellectual Disability (and Mod. to Sev. Int. Disability) – here the actual population-based cohort has been applied. See method section). Robust standard errors are used to produce 95% CI and p-values.
Note: HR; hazard ratio, CI; confidence interval; Attention-Deficit/Hyperactivity Disorder (F90.0); Autism spectrum disorder (F84.0–F84.9); Depression: single and recurrent depression (F32-F33); ---Schizophrenia (F20); Intellectual Disability (F70-F79); Moderate to Severe Intellectual Disability (F71-F79); Epilepsy (G40, ICD-10 code).Bipolar Disorder was left out of the analysis since the number of affected subjects was too small.