Description of the cohort of 106 patients with intellectual disability (ID) and global diagnostic results
| Cohort (n=106) | With conclusive genetic diagnosis (n=26) | Yield (per category) | |||
|---|---|---|---|---|---|
| Gender | XLID | ADID | Total | ||
| Male | 96 (91%) | 14 | 8 | 22 | 22/96 (23%) |
| Female | 10 (9%) | 2 | 2 | 4 | 4/10 (40%) |
| Total | 106 | 16 | 10 | 26 | 26/106 (25%) |
| Age | |||||
| [0–10] | 57 (54%) | 9 | 5 | 14 | 14/57 (25%) |
| [10–20] | 31 (29%) | 5 | 4 | 9 | 9/31 (29%) |
| >20 | 18 (17%) | 2 | 1 | 3 | 3/18 (17%) |
| Sporadic cases* | |||||
| Female | 8 (7%) | 2 | 2 | 4 | 4/8 (50%) |
| Male | 72 (68%) | 7 | 7 | 14 | 14/72 (19%) |
| Total | 80 (75%) | 9 | 9 | 18 | 18/80 (23%) |
| Familial history | |||||
| Male sib-pairs | 12 | 5 | 0 | 5 | 5/12 (42%) |
| Possible XLID† | 8 | 2 | 1 | 3 | 3/8 (38%) |
| Other (non-X-linked) | 6 | 0 | 0 | 0 | 0/6 (0%) |
| Total | 26 (25%) | 7 | 1 | 8 | 8/26 (31%) |
| Consanguinity | 3 (3%) | 0 | 0 | 0 | 0/3 (0%) |
| ID severity | |||||
| Mild/borderline | 12 (11%) | 3 | 0 | 3 | 3/12 (25%) |
| Moderate | 49 (46%) | 4 | 6 | 10 | 10/49 (20%) |
| Severe | 45 (42%) | 9 | 4 | 13 | 13/45 (29%) |
| Comorbidity | |||||
| Microcephaly (<−2 SD) | 14 (13%) | 3 | 2 | 5 | 5/14 (36%) |
| Epilepsy | 28 (26%) | 5 | 2 | 6 | 6/28 (21%) |
| Autistic traits | 34 (32%) | 7 | 2 | 9 | 9/34 (26%) |
| Hypotonia | 36 (34%) | 4 | 4 | 8 | 8/36 (22%) |
| Previous exploration | |||||
| CGH | 106 (100%) | ||||
| Fragile-X | 105 (99%) | ||||
| Karyotype | 99 (96%) | ||||
| # Other genetic tests (mean per patient) | 2 | ||||
| MRI | 53 (50%) | ||||
| Metabolism‡ | 82 (77%) | ||||
*No familial first degree ID.
†Affected male relatives.
‡At least one biochemical test performed.
XLID, X-linked ID; in italic: total number per category.