Table 8.
Comparison of probands with potentially damaging CNV with and without ID
| Phenotypes | CMA probands without ID (n = 522) with pdCNV (n = 47, 9%) |
CMA probands with ID (n = 474) with pdCNV (n = 58, 12%) |
||||
|---|---|---|---|---|---|---|
| OR | 95% CI | p value | OR | 95% CI | p value | |
| HC—large1 | 1.74 | (0.39,5.48) | 0.40 | 0.42 | (0.02,2.11) | 0.40 |
| HC—small2 | 0.24 | (0.01,1.19) | 0.17 | 2.85 | (1.31,5.94) | < 0.01* |
| Large for gestational age3 | 0.87 | (0.14,3.13) | 0.85 | – | – | – |
| Small for gestational age4 | 2.05 | (0.46,6.67) | 0.28 | 2.01 | (0.55,5.81) | 0.23 |
| Congenital anomalies | 3.71 | (1.36,9.23) | 0.01* | 2.46 | (1.09,5.26) | 0.02* |
| Motor function disorders | 0.83 | (0.13,2.94) | 0.81 | 1.99 | (0.71,4.86) | 0.15 |
| Scholastic skill disorders | 2.01 | (0.90,4.14) | 0.07 | 1.61 | (0.83,3.00) | 0.14 |
| Speech/language disorders | 2.14 | (0.92,4.54) | 0.06 | 0.92 | (0.41,1.89) | 0.83 |
| ADHD | 1.43 | (0.70,2.75) | 0.30 | 0.89 | (0.41,1.78) | 0.76 |
| Anxiety disorder | 1.09 | (0.17,4.02) | 0.91 | – | – | – |
| Epilepsy | 1.21 | (0.57,2.40) | 0.60 | 0.86 | (0.49,1.51) | 0.61 |
| OCD | 1.50 | (0.55,3.51) | 0.38 | 0.47 | (0.08,1.63) | 0.31 |
| Psychotic disorders | 1.24 | (0.41,3.07) | 0.67 | 1.63 | (0.63,3.68) | 0.27 |
ADHD attention-deficit/hyperactivity disorder, ID intellectual disability, OCD obsessive–compulsive disorder, pdCNV potentially damaging copy number variation
1HC-large if head circumference was > 38 cm. 2HC-small if head circumference was < 32 cm. 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 335, large for gestational age 207, small for gestational age 206, HC-large 219, HC-small 219 individuals
Significance level: *p < 0.05