Table 1 Demographic data and prevalence of maindisease manifestations in the respective groups
Patient questionnaire | Physician questionnaire | |
|---|---|---|
Number | 94 | |
Sex | Male: 50 (53.2%), Female: 44 (46.8%) | |
Age | Median: 18 years [range 1–55] | |
Manifestations | ||
Skin | ||
Hyomelanotic macules | 84 (89.36%) | 70 (74.47%) |
Facial angiofibroma | 80 (85.11%) | 66 (70.21%) |
Fibrous cephalic plaque | 37 (39.36%) | 25 (26.6%) |
Chagrin patch | 45 (47.87%) | 32 (34.04%) |
Periungual fibroma | 43 (45.74%) | 28 (29.79%) |
Dental pits | 36 (38.3%) | 23 (24.47%) |
Eye | ||
Retinal hamartoma | 23 (24.47%) | 18 (19.15%) |
Retinal achromatic patch | 6 (6.38%) | 3 (3.19%) |
Brain | ||
SEN | 74 (78.72%) | 66 (70.21%) |
SEGA | 37 (39.36%) | 39 (41.49%) |
Tubera | 66 (70.21%) | 74 (78.72%) |
Epilepsy | 84 (89.36%) | 80 (85.11%) |
Infantile spasms | 53 (56.38%) | 42 (44.68%) |
Neuropsychiatric disorders | ||
Autism/autism spectrum disorder | 41 (43.62%) | 41 (43.62%) |
Aggressive behaviour | 32 (34.04%) | 26 (27.66%) |
Anxiety | 31 (32.98%) | 25 (26.6%) |
Compulsion | 33 (35.11%) | 17 (18.09%) |
Intellectual disability | 58 (61.7%) | 57 (60.64%) |
Non-verbal communication | 16 (17.02%) | 16 (17.02%) |
Unable to communicate | 10 (10.64%) | 5 (5.32%) |
Heart | ||
Cardiac rhabdomyoma | 52 (55.32%) | 50 (53.19%) |
Kidney | ||
Renal angiomyolipoma | 54 (57.45%) | 54 (57.45%) |
Angiomyolipoma hemorrhage | 9 (9.57%) | 5 (5.32%) |
Renal insufficiency | 12 (12.77%) | 6 (6.38%) |
Lung | ||
LAM | 10 (10.64%) | 14 (14.89%) |
Pneumothorax | 6 (6.38%) | 3 (3.19%) |
Locomotor system | ||
Scoliosis | 24 (25.53%) | 17 (18.09%) |
Impaired ambulatory ability | 31 (32.98%) | 19 (20.21%) |
Unable to walk | 5 (5.32%) | 5 (5.32%) |