Table 1 Sociodemographic and main clinical features of the NF1 individuals included in this study
N | n | % | ||
|---|---|---|---|---|
Sex | ||||
Females | 40 | 21 | 52.5 | |
Males | 40 | 19 | 47.5 | |
Age (years) | ||||
< 35 | 40 | 17 | 42.5 | |
35–54 | 40 | 14 | 35.0 | |
>=55 | 40 | 9 | 22.5 | |
Education level | ||||
Undergraduate | 34 | 15 | 44.1 | |
Vocational education | 34 | 12 | 35.3 | |
University degree | 34 | 7 | 20.6 | |
Clinical characteristics | ||||
Six or more café au lait macules | 40 | 39 | 97.5 | |
Axillary and/or inguinal freckling | 40 | 38 | 95.0 | |
Two or more neurofibromas | 40 | 32 | 80.0 | |
Plexiform neurofibroma | 40 | 17 | 42.5 | |
Two or more Lisch nodules | 37 | 29 | 78.4 | |
Optic pathway glioma | 40 | 4 | 10.0 | |
Osseous lesions | 40 | 20 | 50.0 | |
Family history | 40 | 20 | 50.0 | |
Neurocognitive features | 40 | 18 | 45.0 | |
Central Nervous System | 40 | 14 | 35.0 | |
Short stature (< P3) | 40 | 14 | 35.0 | |
Macrocephaly (> P97) | 40 | 5 | 12.5 | |
Emphysema | 40 | 1 | 2.5 | |
Pruritus | 40 | 15 | 37.5 | |
Hypomelanic macules | 40 | 3 | 7.5 | |
Dizziness | 40 | 12 | 30 | |
Sleeping troubles | 40 | 10 | 25.0 | |
Headaches | 40 | 9 | 22.5 | |
Myomas | 21 | 4 | 19.0 | |
Malignancies | 40 | 4 | 10.0 | |