Table 3.
Rates of diagnosis for psychiatric disorders using clinical exome sequencing.
| Study | Rate of psychiatric diagnosis* | Rate of de novo event | Global average year | Phenotype |
|---|---|---|---|---|
| Yang et al., 2013 | 26% (55/213) | 47% (29/62) | 5–18 years (94 individuals) | neurologic disorder |
| <5 years (124 individuals) | neurologic disorder and other organ-system disorder | |||
| >18 years (28 individuals) | specific neurologic disorder | |||
| fetus (4 individuals) | non-neurologic disorder | |||
| Yang et al., 2014 | 26% (455/1756) | 72% (248/345) | 5–18 years (845 individuals) | neurological disorder |
| <5 years (900 individuals) | neurological plus other organ systems disorder | |||
| >18 years (244 individuals) | specific neurological disorder | |||
| fetus (11 individuals) | non-neurological disorder | |||
| Lee et al., 2014 | 26% (175/673) | 50% (63/127) | 5–18 years (266 individuals) | developmental delay |
| developmental delay and other syndrome | ||||
| <5 years (254 individuals) | ataxia and related neurological disorders | |||
| muscular dystrophy and related disorders | ||||
| >18 years (294 individuals) | cardiomyopathy and arrhythmia | |||
| cancer predisposition | ||||
| disorder of sexual development | ||||
| Retinal disorders | ||||
| Farwell et al., 2015 | 31% (99/324) | 49% (80/163) | prenatal (2 individuals) | intellectual disability and/or developmental delay |
| 0–3 months (12 individuals) | brain MRI positive | |||
| <1 years (36 individuals) | multiple congenital anomalies | |||
| 1–5 years (194 individuals) | seizures/epilepsy | |||
| 5–12 years (117 individuals) | progressive phenotype | |||
| 12–18 years (58 individuals) | ataxia | |||
| 18–40 years (45 individuals) | autism spectrum disorder | |||
| >40 years (36 individuals) | psychiatric abnormality | |||
| Tammimies et al., 2015 | 3% (8/95) | 38% (3/8) | average 4.5 ± 1.7 years | Asperger syndrome |
| autistic disorder | ||||
| pervasive developmental disorder - not otherwise specified | ||||
| Wenger et al., 2017 | 10% (4/40) | 100% (4/4) | 2–5 years (10 individuals) | neurologic abnormality |
| congenital anomalies | ||||
| 5–10 years (12 individuals) | metabolic abnormality | |||
| musculoskeletal abnormality | ||||
| <2 years (9 individuals) | cancer | |||
| gastrointestinal abnormality | ||||
| >10 years (9 individuals) | hearing loss | |||
| vascular abnormality | ||||
| Stark et al., 2016 | 58% (46/80) | 35% (16/46) | 0–6 months (37 individuals) | congenital abnormalities and dysmorphic features |
| neurometabolic disorder | ||||
| 6–12 months (25 individuals) | skeletal dysplasia | |||
| eye abnormality | ||||
| 12–36 months (18 individuals) | other abnormality (gastrointestinal, renal, immunological) | |||
| Rossi et al., 2017 | 26% (42/163) | 62% (26/42) | average 9.0 ± 6.7 years | neurologic abnormality |
| Baldridge et al., 2017 | 43% (67/155) | 51% (34/67) | average 6 years (3 days−33 years) | neurological abnormality |
| multiple congenital anomalies | ||||
| mixed, neurological plus | ||||
| other clinical specifics | ||||
| Smith et al., 2017 | 69% (64/96) | – | – | – |
| Nambot et al., 2017 | 15% (24/156) | 50% (64/128) | average 10.5 years | congenital anomaly without intellectual disability |
| neuromuscular disorders | ||||
| neurodevelopmental disorders | ||||
| Vissers et al., 2017 | 29% (44/150) | 30% (13/44) | average 5.58 years (5 months−18 years) | complex neurological disorders |
*
Rate of psychiatric diagnosis refers to the percent of patients for whom were given a positive genetic diagnosis in this study; Overall diagnostic rate (all presentations) refers to the percent of patients for whom were given a positive genetic diagnosis in this and previous study; Rate of de novo event refers to the percent of events that patients carrying DNM(s) were diagnosed as positive result; Sex ratio and Global average year declaim the sex and age contribution of patient samples.