Table 1.
Study cohort characteristics
| Noonan syndrome (n = 39) | NF1 (n = 39) | Unaffected siblings (n = 32) | |
|---|---|---|---|
| Patient demographics | Mean (SD) | Mean (SD) | Mean (SD) |
| Child age at assessment | 12.10 (2.70) | 11.95 (2.50) | 11.74 (2.54) |
| Parental years of education | 15.90 (1.98) | 15.17 (2.02) | 14.94 (2.08) |
| N (%) | N (%) | N (%) | |
| Parent confirmed to be affected | 4 (10%) | 17 (44%) | 5 (16%) |
| Gene mutations confirmed by laboratory testing | |||
| NS/NSML-PTPN11 | 21 (54%) | – | – |
| NS-SOS1 | 4 (10%) | – | – |
| NS-KRAS | 3 (8%) | – | – |
| NS-RAF1 | 2 (5%) | – | – |
| NS-SHOC2 | 2 (5%) | – | – |
| NS-SOS2 | 1 (3%) | – | – |
| NS-MAP2K1 | 1 (3%) | – | – |
| NF1-NF1 | – | 25 (64%) | – |
| Medical complications | |||
| Preterm birth | 14 (39%) | 3 (9%) | 1 (3%) |
| Cardiac disease | 24 (62%) | 1 (3%) | – |
| Seizures | 4 (10%) | 3 (8%) | – |
| Hydrocephalus | 2 (5%) | 0 (0%) | – |
| Chemotherapy treatment | 0 (0%) | 4 (10%) | – |
| Tumor/malignancy | |||
| Optic pathway glioma | 0 (0%) | 3 (8%) | – |
| Other intracranial gliomas | 0 (0%) | 1 (3%) | – |
| Plexiform neurofibroma | 0 (0%) | 4 (10%) | – |
| Malignant peripheral nerve sheath tumor | 0 (0%) | 1 (3%) | – |
| Other neurofibromas | 0 (0%) | 4 (10%) | – |
–Data not collected for this group