Table 7.
Odds ratios for comorbidities and birth characteristics of probands with potentially damaging CNV or SNV
| Phenotypes | CMA probands with pdCNV (n = 105) |
WES and CMA probands with pdSNV or pdCNV ASC102 list (n = 123) |
WES and CMA probands with pdSNV or pdCNV ASC102 + DGR list (n = 182) |
||||||
|---|---|---|---|---|---|---|---|---|---|
| OR | 95% CI | p value | OR | 95% CI | p value | OR | 95% CI | p value | |
| HC—large1 | 0.97 | (0.28,2.52) | 0.96 | 1.31 | (0.47,3.15) | 0.58 | 1.42 | (0.60,3.17) | 0.40 |
| HC—small2 | 1.58 | (0.80,2.93) | 0.16 | 1.45 | (0.74,2.71) | 0.26 | 1.67 | (0.94,2.92) | 0.07 |
| Large for gestational age3 | 0.46 | (0.07,1.54) | 0.29 | 0.17 | (0.01,0.82) | 0.08 | 0.64 | (0.21,1.61) | 0.40 |
| Small for gestational age4 | 2.05 | (0.80,4.58) | 0.10 | 1.12 | (0.36,2.82) | 0.83 | 1.82 | (0.78,4.05) | 0.16 |
| Congenital anomalies | 2.99 | (1.61,.36) | < 0.01* | 1.89 | (0.96,3.56) | 0.06 | 1.72 | (0.93,3.12) | 0.08 |
| Motor function disorders | 1.48 | (0.63,3.07 | 0.33 | 1.27 | (0.50,2.86) | 0.59 | 1.44 | (0.66,3.00) | 0.34 |
| Scholastic skill disorders | 1.82 | (1.10,2.92) | 0.02* | 1.93 | (1.16,3.14) | < 0.01* | 1.40 | (0.87,2.21) | 0.16 |
| Speech/language disorders | 1.38 | (0.78,2.33) | 0.25 | 1.08 | (0.59,1.90) | 0.79 | 1.27 | (0.76,2.07) | 0.34 |
| ADHD | 1.11 | (0.67,1.78) | 0.68 | 1.14 | (0.69,1.83) | 0.61 | 1.10 | (0.71,1.68) | 0.66 |
| Anxiety disorder | 0.59 | (0.09,2.03) | 0.48 | 0.62 | (0.10,2.28) | 0.54 | 0.62 | (0.14,1.94) | 0.45 |
| Epilepsy | 1.06 | (0.68,0.63) | 0.78 | 1.56 | (1.04,2.33) | 0.03* | 1.53 | (1.07,2.18) | 0.02* |
| Intellectual disability | 1.41 | (0.94,2.12) | 0.10 | 2.16 | (1.14,3.24) | < 0.01* | 2.37 | (1.67,3.37) | < 0.01* |
| OCD | 0.93 | (0.40,1.89) | 0.86 | 0.69 | (0.30,1.43) | 0.35 | 0.76 | (0.39,1.41) | 0.41 |
| Psychotic disorders | 1.40 | (0.70,2.59) | 0.30 | 1.44 | (0.74,2.66) | 0.26 | 1.10 | (0.60,1.46) | 0.74 |
ADHD attention-deficit/hyperactivity disorder, OCD obsessive–compulsive disorder, pdCNV potentially damaging copy number variation, pdSNV potentially damaging single nucleotide variation
1HC-large if head circumference was > 38 cm. 2HC-small if head circumference was < 32. 3Large for gestational age was defined as birth weight > 2 SD using the Swedish growth charts. 4Small for gestational age was defined as birth weight < 2 SD using Swedish growth charts. Missing values for congenital anomalies (CMA Probands/WES) 335/260, large for gestational age 206/139, small for gestational age 206/139, HC-large 219/153, HC-small 219/153 individuals
Significance level: *p < 0.05