Table 5 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 | WES probands with pdSNV (n = 69) ASC102 list n (%) | CMA probands with pdCNV (n = 105) n (%) | WES and CMA probands with pdCNV or pdSNV (n = 123) AS102 list n (%) |
|---|---|---|---|
HC—large1 | 4 (6%) | 4 (4%) | 6 (5%) |
HC—small2 | 4 (6%) | 13 (12%) | 14 (11%) |
Large for gestational age3 | 0 (0%) | 2 (2%) | 1 (1%) |
Small for gestational age4 | 0 (0%) | 7 (7%) | 5 (4%) |
Congenital anomalies | 3 (4%) | 18 (17%) | 15 (12%) |
Motor function disorders | 2 (3%) | 8 (8%) | 7 (6%) |
Scholastic skill disorders | 11 (16%) | 25 (24%) | 27 (22%) |
Speech/language disorders | 7 (10%) | 18 (17%) | 16 (13%) |
ADHD | 11 (16%) | 23 (22%) | 25 (20%) |
Anxiety disorder | 1 (1%) | 2 (2%) | 2 (2%) |
Epilepsy | 30 (43%) | 34 (32%) | 49 (40%) |
Intellectual disability | 47 (68%) | 58 (55%) | 75 (61%) |
OCD | 3 (4%) | 8 (8%) | 8 (7%) |
Psychotic disorders | 4 (6%) | 12 (11%) | 14 (11%) |