Table 1:
Description of the cohort of 150 individuals enrolled for the study of ID/ASD comorbidity.
| Features | Patients (n=150) | Yield with causative mutations | Yield with causative or putative mutations |
|---|---|---|---|
| Gender | |||
| Female | 58 (39%) | 10 (17.2%) | 17 (29.3%) |
| Male | 92 (61%) | 16 (17.4%) | 24 (26%) |
| Age (at diagnosis) | 2– 42 y.o | 4–27 y.o. | 3–42 y.o. |
| Familial History | |||
| Sporadic | 121 (81%) | 23 (19%) | 31(25.6%) |
| Familial | 29 (19%) | 3 (10.3%) | 10 (34.5%) |
| Sib pair | 5 (3.3%) | 0 | 0 |
| X-linked | 3 (2%) | 1 | 0 |
| Intellectual Disability | 146 (97.3%) | 26 (17.8%) | 41 (28%) |
| Mild | 37 (24.6%) | 5 (13.5%) | 8 (21.6%) |
| Moderate | 38 (25.3%) | 8 (21%) | 10 (26.3%) |
| Severe | 33 (22%) | 9 (27.3%) | 12 (36.3%) |
| Not evaluated | 38 (25.3%) | 4 (10.5%) | 11 (28.9%) |
| Comorbidity | |||
| ASD (autistic features) | 93 (62%) | 15 (16.1%) | 25 (26.8%) |
| ASD not reported | 16 (10.6%) | 3 (18.7%) | 5 (31.2%) |
| Epilepsy | 55 (36.6%) | 11 (20%) | 17 (30.9%) |
| Hypotonia | 28 (18.6%) | 6 (21.4%) | 6 (21.4%) |
| Ataxia | 11 (7.3%) | 2 (18%) | 3 (27.2%) |
| Microcephaly | 19 (12%) | 6 (31.5%) | 8 (42.1%) |
| Macrocephaly | 11 (7.3%) | 4 (36.4%) | 4 (36.4%) |
| Previous investigation | |||
| aCGH | 125 (83.3%) | 22 (17.6%) | 35 (28%) |
| X-Fragile | 86 (57.3%) | 10 (11.6%) | 18 (20.9%) |
| EEG anomaly | 56 (37.3%) | 9 (16%) | 17 (30.4%) |
| MRI anomaly | 37 (24.6%) | 9 (24.3%) | 13 (35.1%) |
| Other tests | 57 (38%) | 13 (22.8%) | 18 (31.6%) |