Skip to main content

Table 8 Comparison of probands with potentially damaging CNV with and without ID

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

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
  1. ADHD attention-deficit/hyperactivity disorder, ID intellectual disability, OCD obsessive–compulsive disorder, pdCNV potentially damaging copy number variation
  2. 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
  3. Significance level: *p < 0.05