Table 1.
Frequency and prevalence of intellectual disability by category of disorder and autism spectrum disorder among individuals born with craniofacial anomalies.
| Craniofacial anomalies and subtypes (n) | Intellectual disability | Intellectual disability, by severity | Intellectual disability, by cause | Autism spectrum disordera | ||||
|---|---|---|---|---|---|---|---|---|
| Mild or moderate | Severe | Unknown | Biomedical ID | Unknown mild–moderate | Unknown severe | |||
| n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | n (%) | |
| Craniofacial anomalies (1421) | 134 (9.4)b | 114 (8.0) | 17 (1.2) | ≤5 | 57 (4.0) | 65 (4.6) | ≤5 | 11 (0.8)c |
| Non-syndromic (878) | 23 (2.6) | 23 (2.6) | 0 | 0 | ≤5 | 20 (2.3) | 0 | ≤5 |
| Syndromic (543) | 111 (20.4) | 91 (16.8) | 17 (3.1) | ≤5 | 53 (9.9) | 45 (8.4) | ≤5 (0.9) | 8 (1.5) |
| Other congenital anomalies (28,362) | 2381 (8.4) | 1952 (6.9) | 361 (1.3) | 68 (0.2) | 1195 (4.2) | 919 (3.2) | 111 (0.4) | 210 (0.7) |
| Comparison cohort (564,804)d | 9664 (1.7) | 8424 (1.5) | 732 (0.1) | 508 (0.1) | 1556 (0.3) | 6317 (1.1) | 339 (0.001) | 2122 (0.4) |
| Contributing diagnosis | ||||||||
| Orofacial clefts (1034) | 89 (8.6) | 76 (7.4) | 10 (1.0) | ≤5 | 33 (3.2) | 47 (4.6) | ≤5 | 6 (0.6) |
| Non-syndromic (673) | 18 (2.7) | 18 (2.7) | 0 | 0 | ≤5 | 17 (2.5) | 0 | 0 (0) |
| Syndromic (361) | 71 (19.8) | 58 (16.3) | 10 (2.8) | ≤5 | 32 (9.0) | 30 (8.4) | ≤5 | 6 (1.7) |
| Craniosynostosis (303) | 34 (11.2) | 28 (9.3) | ≤5 | ≤5 | 17 (5.6) | 13 (4.3) | ≤5 | ≤5 |
| Non-syndromic (202) | ≤5 | ≤5 | 0 | 0 | ≤5 | ≤5 | 0 | ≤5 |
| Sagittal synostosis (95) | ≤5 | ≤5 | 0 | 0 | ≤5 | ≤5 | 0 | 0 |
| Coronal synostosis (33) | ≤5 | ≤5 | 0 | 0 | 0 | ≤5 | 0 | ≤5 |
| Metopic synostosis (28) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ≤5 |
| Lambdoid synostosis (36) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ≤5 |
| Multiple suture synostosis (7) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Syndromic (101) | 29 (28.7) | 23 (23.0) | ≤5 | ≤5 | 16 (16.0) | 10 (10.0) | ≤5 | ≤5 |
| Craniofacial microsomia (78) | 10 (12.8) | 8 (10.5) | ≤5 | 0 | ≤5 | ≤5 | ≤5 | 0 |
| Contributing syndromes | ||||||||
| Crouzon syndrome (16) | ≤5 | ≤5 | 0 | 0 | ≤5 | ≤5 | 0 | 0 |
| Apert syndrome (≤5) | ≤5 | ≤5 | 0 | 0 | 0 | ≤5 | 0 | 0 |
| Pfieffer syndrome (≤5) | ≤5 | ≤5 | 0 | 0 | 0 | ≤5 | 0 | 0 |
| Muenke syndrome (≤5) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Baller Gerold syndrome (≤5) | ≤5 | ≤5 | 0 | 0 | ≤5 | 0 | 0 | 0 |
| Saethre–Chotzen syndrome (6) | ≤5 | ≤5 | 0 | 0 | ≤5 | 0 | 0 | 0 |
| Goldenhar syndrome (63) | 9 (14.3) | 7 (11.1) | ≤5 | 0 | ≤5 | ≤5 | ≤5 | 0 |
| Treacher Collins syndrome (≤5) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Pierre Robin sequence (106) | 16 (15.1) | 14 (13.2) | ≤5 | 0 | 8 (8.0) | 8 (8.0) | 0 | 0 |
| Van der Woude syndrome (13) | ≤5 | ≤5 | 0 | 0 | ≤5 | 0 | 0 | 0 |
n number of individuals.
aIncludes individuals with and without intellectual disability.
bPrevalence of intellectual disability among individuals with craniofacial anomalies (CFA): 94.3 per 1000 live CFA births.
cPrevalence of autism spectrum disorder among individuals with craniofacial anomalies (CFA): 7.74 per 1000 live CFA births.
dIncludes individuals without craniofacial anomalies.