Skip to main content

Table 7 Odds ratios for comorbidities and birth characteristics of probands with potentially damaging CNV or SNV

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

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