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

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%)
Phenotypes	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

ISSN: 2040-2392