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

Table 6 Odds ratios for comorbidities and birth characteristics of probands with potentially damaging SNV

Phenotypes	WES probands with pdSNV ASC102 list (n = 69)			WES probands with pdSNV ASC102 + DGR list (n = 144)
Phenotypes	OR	95% CI	p value	OR	95% CI	p value
HC—large¹	0.86	(0.53,5.02)	0.27	1.73	(0.67,3.97)	0.22
HC—small²	0.67	(0.20,1.73)	0.46	1.46	(0.76,2.64)	0.23
Large for gestational age³	–	–	–	0.83	(0.24,2.19)	0.73
Small for gestational age⁴	–	–	–	0.69	(0.20,1.79)	0.49
Congenital anomalies	0.57	(0.14,1.64)	0.36	0.80	(0.34,1.66)	0.58
Motor function disorders	0.51	(0.08,1.70)	0.36	0.99	(0.40,2.16)	0.99
Scholastic skill disorders	1.08	(0.52,2.05)	0.82	0.75	(0.41,1.28)	0.31
Speech/language disorders	0.77	(0.31,1.62)	0.52	0.95	(0.52,1.64)	0.85
ADHD	0.75	(0.37,1.41)	0.40	0.99	(0.61,1.57)	0.96
Anxiety disorder	0.55	(0.03,2.74)	0.56	0.56	(0.09,1.97)	0.44
Epilepsy	1.76	(1.06,2.89)	0.03*	1.51	(1.02,2.22)	0.03*
Intellectual disability	2.60	(1.55,4.48)	< 0.01*	2.62	(1.78,3.91)	< 0.01*
OCD	0.45	(0.11,1.27)	0.19	0.37	(0.13,0.85)	0.03*
Psychotic disorders	0.66	(0.20,1.66)	0.43	0.67	(0.29,1.37)	0.31

ADHD attention-deficit/hyperactivity disorder, OCD obsessive–compulsive disorder, pdSNV potentially damaging single nucleotide 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 260, large for gestational age 139, small for gestational age 139, HC-large 153, HC-small 153 individuals
Significance level: *p < 0.05

ISSN: 2040-2392