Table 1 Sociodemographic and clinical characteristics of participants
From: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
Sociodemographic and clinical characteristics | Self (n = 85) | Proxy (n = 78) | ||
|---|---|---|---|---|
| Â | Â | % | Â | % |
Age (years) | 43.3 (range 18–73) | 34.8 (range 18–66) | ||
Sex | ||||
 Female | 49 | 57.6 | 33 | 42.3 |
 Male | 35 | 41.2 | 45 | 57.7 |
 Other | 1 | 1.2 | 0 | 0.0 |
Nationality | ||||
 American | 14 | 16.5 | 7 | 9.0 |
 Dutch | 61 | 71.8 | 63 | 80.8 |
 Belgium | 6 | 7.1 | 5 | 6.4 |
 Other (Canadian, Australian, British, Spanish, Finnish) | 4 | 4.7 | 3 | 3.8 |
Age diagnosis TSC (years) | 20.7 (range 0–59) |  | 4.2 (range 0–35) |  |
Genetic causea | ||||
 TSC1 pathogenic variant | 15 | 17.6 | 6 | 7.7 |
 TSC2 pathogenic variant | 23 | 27.1 | 27 | 34.6 |
 No pathogenic variant identified | 4 | 4.7 | 5 | 6.4 |
 Variant of unknown significance | 3 | 3.5 | 3 | 3.8 |
 Result unknown | 18 | 21.2 | 25 | 32.1 |
 Not genetically tested or unknown | 22 | 25.9 | 12 | 15.4 |
Organs showing symptoms of TSC (e.g., tubers, tumors, pigment changes) | ||||
 None | 1 | 1.2 | 0 | 0.0 |
 Brain | 60 | 70.6 | 72 | 92.3 |
 Skin | 71 | 83.5 | 72 | 92.3 |
 Kidneys | 73 | 85.9 | 72 | 92.3 |
 Lungs | 29 | 34.1 | 11 | 14.1 |
 Eyes | 20 | 23.5 | 20 | 25.6 |
 Heart | 21 | 24.7 | 32 | 41.0 |
 Mouth | 18 | 21.2 | 13 | 16.7 |
 Other (liver, nails, ovaria, pancreas, uterus, teeth, breast, colon, adrenal, intestines, rectum, ears, nose) | 16 | 18.8 | 18 | 23.1 |
Use of medication | 58 | 68.2 | 77 | 98.7 |
 Anti-seizure drugs | 24 | 28.2 | 63 | 80.8 |
 mTOR inhibitors | 29 | 34.1 | 34 | 43.6 |
 Anti-hypertensive drugs | 11 | 12.9 | 14 | 17.9 |
 Other (e.g., antidepressants, antipsychotics, antihistamines, proton pump inhibitors) | 26 | 30.6 | 46 | 59.0 |
Epilepsy (current or past) | 33 | 38.8 | 73 | 93.6 |
Age first seizure | 6.5 (range 0–58) |  | 1.3 (range 0–27) |  |
Level of intellectual functioning | ||||
 Normal intellectual ability | 64 | 75.3 | 1 | 1.3 |
 Normal intellectual ability with specific learning disability (dyscalculia, dyslexia) | 12 | 14.1 | 0 | 0.0 |
 Mild or moderate ID | 9 | 10.6 | 31 | 39.7 |
 Severe or profound ID | 0 | 0.0 | 46 | 59.0 |
Living situation | ||||
 Alone | 16 | 18.8 | 8 | 10.3 |
 With partner (and/or family) | 49 | 57.6 | 2 | 2.6 |
 With my parents (and siblings) | 14 | 16.5 | 24 | 30.8 |
 With roommates, friends or others | 6 | 7.1 | 42 | 53.8 |
Support (living) | ||||
 Without assistance | 71 | 83.5 | 0 | 0.0 |
 Ambulatory professional support (no 24-h care) | 8 | 9.4 | 13 | 16.7 |
 Ambulatory professional support (with 24-h care) | 6 | 7.1 | 65 | 83.3 |
Other diagnosesa | ||||
 Autism spectrum disorders (ASD) | 6 | 7.1 | 39 | 50.0 |
 Attention deficit (hyperactivity) disorders (AD(H)D) | 3 | 3.5 | 8 | 10.3 |
 Obsessive–compulsive disorders (OCD) | 3 | 3.5 | 5 | 6.4 |
 Anxiety disorder | 10 | 11.8 | 8 | 10.3 |
 Depressive disorder | 14 | 16.5 | 7 | 9.0 |
 Psychotic disorder | 0 | 0.0 | 6 | 7.7 |
Relation to the individual | ||||
 Father |  |  | 20 | 25.6 |
 Mother |  |  | 41 | 52.6 |
 Sibling |  |  | 6 | 10.3 |
 Caretaker |  |  | 2 | 6.4 |
 Other |  |  | 5 | 5.1 |