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) |
| Â | 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%) | – |