Background
Methods
Patients and survey methods
Materials
Statistical analysis
Results
Demographic and clinical characteristics
All patients, n = 121 | ||
---|---|---|
Age, years | Mean ± SD | 31.0 ± 10.5 |
Range | 18–61 | |
Median | 29.0 | |
IQR | 22–37 | |
Sex, n (%) | Female | 55 (45.5) |
Male | 66 (55.5) | |
Age at first manifestation of TSC, years | Mean ± SD | 3.8 ± 8.1 |
Range | 0–41 | |
Median | 0 | |
IQR | 0–3 | |
Age at TSC diagnosis, years | Mean ± SD | 8.9 ± 13.0 |
Range | 0–53 | |
Median | 2.5 | |
IQR | 0–14.3 | |
First TSC symptom/sign, n (%) | Epilepsy/seizures | 65 (53.7) |
Skin manifestation | 24 (19.8) | |
Cardiac rhabdomyoma | 7 (5.8) | |
Renal manifestation | 4 (3.3) | |
Eye manifestation | 3 (2.5) | |
Cardiac arrhythmia | 3 (2.5) | |
Other | 12 (9.9) | |
Genetic testing, n (%) | Yes, TSC1 | 25 (20.7) |
Yes, TSC2 | 31 (25.6) | |
Yes, TSC2/PKD1 contiguous gene | 1 (0.8) | |
Yes, but no mutation identified (NMI) | 16 (13.2) | |
Yes, mutation not specified | 10 (8.3) | |
No genetic testing | 30 (24.8) | |
Unknown | 8 (6.6) | |
Clinical manifestations, n (%) | Skin | 116 (95.9) |
Angiofibroma | 101 (83.5) | |
Hypomelanotic macules | 68 (56.2) | |
Shagreen patches | 59 (48.8) | |
Ungual fibromas | 13 (10.7) | |
Skin tags | 4 (3.3) | |
Café au lait-spots | 4 (3.3) | |
Epilepsy/seizures | 93 (76.9) | |
Active epilepsy | 50 (41.3) | |
Brain structural | 86 (71.1) | |
Tuber | 64 (52.9) | |
SEGA | 51 (42.1) | |
Hydrocephalus | 3 (2.5) | |
Kidney | 85 (70.2) | |
AML | 70 (57.9) | |
Heart | 62 (51.2) | |
Cardiac rhabdomyoma | 29 (24.0) | |
Neuropsychiatric | 60 (49.6) | |
Lymphangioleiomyomatosis | 12 (9.9) | |
Other | 50 (41.3) | |
Number of manifestations | Median | 5 |
Range | 1–8 | |
Highest school graduation certificate, n (%) | High school (‘Abitur/Fachabitur’) | 29 (24.0) |
Intermediate school (‘Realschulabschluss/mittlere Reife’) | 27 (22.3) | |
Secondary modern school (‘Hauptschulabschluss’) | 10 (8.3) | |
Still in school | 6 (5.0) | |
No certificate | 29 (24.0) | |
Other | 19 (15.7) | |
Current occupation, n (%) | Employee full-time | 35 (28.9) |
Unemployment or unable to work due to TSC | 29 (23.4) | |
Employee part-time | 12 (9.9) | |
Unemployment or unable to work due to other illness | 5 (4.1) | |
Self-employed | 2 (1.7) |
Generic and health-related quality of life, mood, and stigma
EQ-5D
Predictor | Measure | N | Category | Mean | ± SD | 95% CI | p-value* | |
---|---|---|---|---|---|---|---|---|
Sociodemographic aspects | ||||||||
Sex | VAS | 64 | Male | 67.9 | 19.7 | 63.0–72.9 | 0.768 | |
54 | Female | 66.7 | 21.2 | 60.9–72.5 | ||||
Index (TTO) | 64 | Male | 0.796 | 0.267 | 0.730–0.863 | 0.320 | ||
54 | Female | 0.843 | 0.257 | 0.773–0.914 | ||||
Age | VAS | 54 | 18–28 y | 72.0 | 20.4 | 66.4–77.6 | 0.020 | |
62 | 29–61 y | 68.2 | 19.6 | 58.3–68.2 | ||||
Index (TTO) | 54 | 18–28 y | 0.834 | 0.238 | 0.769–0.898 | 0.309 | ||
62 | 29–61 y | 0.800 | 0.286 | 0.727–0.873 | ||||
Employment | VAS | 49 | Yes | 70.8 | 18.2 | 65.6–76.0 | 0.017 | |
33 | No | 58.7 | 21.7 | 51.0–66.4 | ||||
Index (TTO) | 49 | Yes | 0.920 | 0.115 | 0.887–0.953 | < 0.001† | ||
33 | No | 0.661 | 0.341 | 0.540–0.782 | ||||
Grade of disability | VAS | 36 | 0–80 | 72.0 | 15.9 | 66.6–77.4 | 0.001† | |
56 | 90–100 | 58.6 | 20.3 | 53.1–64.0 | ||||
Index (TTO) | 36 | 0–80 | 0.916 | 0.101 | 0.882–0.950 | < 0.001† | ||
56 | 90–100 | 0.681 | 0.318 | 0.596–0.766 | ||||
Clinical aspects | ||||||||
Mutation type | VAS | 24 | TSC1 | 72.8 | 18.5 | 65.0–80.6 | 0.198 | |
30 | TSC2 | 65.0 | 24.2 | 56.0–74.1 | ||||
Index (TTO) | 24 | TSC1 | 0.803 | 0.288 | 0.682–0.924 | 0.662 | ||
30 | TSC2 | 0.793 | 0.296 | 0.682–0.904 | ||||
Active epilepsy | VAS | 50 | Yes | 60.0 | 20.1 | 54.3–65.7 | 0.001† | |
71 | Sz freedom > 12 m | 72.3 | 18.9 | 68.2–77.4 | ||||
Index (TTO) | 50 | Yes | 0.729 | 0.305 | 0.642–0.816 | 0.001† | ||
71 | Sz freedom > 12 m | 0.883 | 0.205 | 0.834–0.939 | ||||
Structural brain | VAS | 83 | Yes | 65.4 | 20.3 | 61.0–69.9 | 0.116 | |
35 | No | 72.0 | 20.0 | 65.1–78.8 | ||||
Index (TTO) | 83 | Yes | 0.793 | 0.281 | 0.732–0.855 | 0.123 | ||
35 | No | 0.876 | 0.206 | 0.805–0.947 | ||||
SEGA | VAS | 50 | Yes | 62.2 | 20.5 | 56.3–68.0 | 0.017 | |
68 | No | 71.2 | 19.5 | 66.5–75.9 | ||||
Index (TTO) | 50 | Yes | 0.802 | 0.268 | 0.725–0.877 | 0.597 | ||
68 | No | 0.830 | 0.260 | 0.767–0.893 | ||||
Neuropsychiatric | VAS | 60 | Yes | 59.1 | 21.4 | 53.5–64.7 | < 0.001† | |
61 | No | 75.4 | 15.7 | 71.3–75.4 | ||||
Index (TTO) | 60 | Yes | 0.693 | 0.314 | 0.610–0.776 | < 0.001† | ||
61 | No | 0.938 | 0.107 | 0.911–0.966 | ||||
AML | VAS | 69 | Yes | 65.9 | 21.2 | 60.8–71.0 | 0.317 | |
49 | No | 69.4 | 19.2 | 63.9–74.9 | ||||
Index (TTO) | 70 | Yes | 0.805 | 0.276 | 0.739–0.872 | 0.979 | ||
51 | No | 0.835 | 0.244 | 0.765–0.906 | ||||
Lymphangioleio-myomatosis | VAS | 12 | Yes | 67.5 | 12.7 | 59.4–75.6 | 0.844 | |
106 | No | 67.4 | 21.1 | 63.3–71.4 | ||||
Index (TTO) | 12 | Yes | 0.819 | 0.320 | 0.615–1.023 | 0.839 | ||
106 | No | 0.818 | 0.257 | 0.768–0.867 | ||||
Skin | VAS | 114 | Yes | 67.1 | 20.5 | 63.3–70.9 | 0.469 | |
4 | No | 75.0 | 13.5 | 63.3–96.6 | ||||
Index (TTO) | 116 | Yes | 0.815 | 0.267 | 0.767–0.865 | 0.504 | ||
5 | No | 0.890 | 0.087 | 0.753–1.028 | ||||
Number of affected organs | VAS | 30 | 1–3 | 80.9 | 12.3 | 76.3–85.5 | ref. | < 0.001† |
72 | 4–6 | 64.5 | 20.3 | 59.7–69.3 | 0.005 | |||
16 | 7–8 | 55.1 | 20.3 | 44.2–65.9 | 0.048 | |||
Index (TTO) | 30 | 1–3 | 0.931 | 0.159 | 0.872–0.990 | ref. | 0.001† | |
72 | 4–6 | 0.805 | 0.264 | 0.743–0.867 | 0.037 | |||
16 | 7–8 | 0.662 | 0.330 | 0.487–0.838 | 0.009 | |||
Therapeutic aspects | ||||||||
Anti-seizure medication polytherapya | VAS | 53 | Yes | 62.3 | 20.2 | 61.7–74.9 | 0.223 | |
37 | No | 68.3 | 19.8 | 57.3–68.4 | ||||
Index (TTO) | 53 | Yes | 0.759 | 0.282 | 0.682–0.837 | 0.081 | ||
40 | No | 0.851 | 0.250 | 0.767–0.934 | ||||
Everolimus | VAS | 50 | Yes | 61.6 | 20.3 | 55.8–67.4 | 0.007† | |
68 | No | 71.6 | 19.4 | 66.9–76.3 | ||||
Index (TTO) | 50 | Yes | 0.772 | 0.286 | 0.691–0.854 | 0.141 | ||
68 | No | 0.851 | 0.241 | 0.793–0.910 | ||||
LAEP | VAS | 34 | < 35 | 62.6 | 19.7 | 58.3–66.9 | < 0.001† | |
83 | ≥35 | 78.4 | 17.5 | 72.3–84.5 | ||||
Index (TTO) | 34 | < 35 | 0.757 | 0.287 | 0.695–0.820 | < 0.001† | ||
83 | ≥35 | 0.960 | 0.093 | 0.928–0.993 |
QOLIE-31
Predictor | Measure | N | Category | Mean | ± SD | 95% CI | p-value* | |
---|---|---|---|---|---|---|---|---|
Sociodemographic aspects | ||||||||
Sex | VAS | 65 | Male | 64.2 | 19.9 | 59.2–69.1 | 0.790 | |
55 | Female | 63.6 | 22.1 | 57.6–69.5 | ||||
Overall score | 65 | Male | 62.2 | 20.2 | 57.5–67.2 | 0.277 | ||
55 | Female | 65.5 | 19.0 | 60.3–70.6 | ||||
Age | VAS | 55 | 18–28 y | 67.1 | 20.3 | 61.6–72.6 | 0.136 | |
63 | 29–61 y | 60.9 | 21.0 | 55.6–66.2 | ||||
Overall score | 55 | 18–28 y | 64.4 | 20.6 | 58.9–70.0 | 0.666 | ||
53 | 29–61 y | 62.7 | 19.0 | 57.9–67.5 | ||||
Employment | VAS | 49 | Yes | 70.6 | 19.7 | 64.9–76.2 | 0.001† | |
34 | No | 54.7 | 20.8 | 46.4–60.9 | ||||
Overall score | 49 | Yes | 71.7 | 19.9 | 66.9–76.4 | < 0.001† | ||
34 | No | 51.5 | 16.5 | 44.5–58.4 | ||||
Grade of disability | VAS | 38 | 0–80 | 65.0 | 17.4 | 59.2–70.7 | 0.008† | |
56 | 90–100 | 54.3 | 18.1 | 49.4–59.1 | ||||
Overall score | 38 | 0–80 | 66.1 | 16.5 | 60.7–71.5 | < 0.001† | ||
56 | 90–100 | 54.2 | 16.5 | 49.7–58.6 | ||||
Clinical aspects | ||||||||
Mutation type | VAS | 25 | TSC1 | 70.3 | 18.0 | 62.9–77.8 | 0.099 | |
31 | TSC2 | 61.0 | 23.5 | 52.3–69.6 | ||||
Overall score | 25 | TSC1 | 68.8 | 17.3 | 61.6–75.9 | 0.424 | ||
31 | TSC2 | 63.0 | 21.4 | 55.2–70.9 | ||||
Active epilepsy | VAS | 49 | Yes | 56.7 | 19.4 | 51.2–62.3 | 0.003† | |
71 | No | 68.8 | 20.5 | 64.0–73.7 | ||||
Overall score | 49 | Yes | 52.1 | 17.7 | 47.0–57.2 | < 0.001† | ||
71 | No | 71.7 | 16.7 | 67.8–75.7 | ||||
Structural brain | VAS | 85 | Yes | 62.3 | 20.9 | 57.8–66.8 | 0.232 | |
35 | No | 67.7 | 20.5 | 60.6–74.7 | ||||
Overall score | 85 | Yes | 60.5 | 20.1 | 56.2–64.8 | 0.007† | ||
35 | No | 71.5 | 16.3 | 65.9–77.1 | ||||
SEGA | VAS | 50 | Yes | 62.0 | 22.1 | 55.7–68.3 | 0.458 | |
70 | No | 65.2 | 20.0 | 60.5–70.0 | ||||
Overall score | 50 | Yes | 59.4 | 20.1 | 53.7–65.2 | 0.041 | ||
70 | No | 66.7 | 18.9 | 62.2–71.2 | ||||
Neuropsychiatric | VAS | 59 | Yes | 55.1 | 20.4 | 49.8–60.5 | < 0.001† | |
61 | No | 72.3 | 17.6 | 67.8–76.9 | ||||
Overall score | 59 | Yes | 53.2 | 18.0 | 48.5–57.9 | < 0.001† | ||
61 | No | 73.8 | 15.4 | 69.9–77.8 | ||||
AML | VAS | 70 | Yes | 61.5 | 22.3 | 56.2–66.9 | 0.146 | |
50 | No | 67.2 | 18.4 | 61.9–72.4 | ||||
Overall score | 70 | Yes | 63.6 | 20.8 | 58.6–68.5 | 0.819 | ||
50 | No | 63.9 | 18.2 | 58.7–69.0 | ||||
Lymphangioleiomyomatosis | VAS | 12 | Yes | 63.3 | 14.4 | 54.2–72.5 | 0.829 | |
108 | No | 63.9 | 21.5 | 59.8–68.1 | ||||
Overall score | 12 | Yes | 70.2 | 14.9 | 60.8–79.7 | 0.256 | ||
108 | No | 63.0 | 20.0 | 59.2–66.8 | ||||
Skin | VAS | 115 | Yes | 63.8 | 20.9 | 59.9–67.7 | 0.822 | |
5 | No | 66.0 | 20.7 | 40.3–91.8 | ||||
Overall score | 115 | Yes | 63.7 | 19.6 | 60.1–67.3 | 0.855 | ||
5 | No | 63.3 | 22.9 | 34.8–91.8 | ||||
Number of affected organs | VAS | 31 | 1–3 | 76.7 | 16.7 | 70.6–82.8 | Ref | < 0.001† |
72 | 4–6 | 62.2 | 19.2 | 57.7–66.7 | 0.001 | |||
17 | 7–8 | 47.7 | 21.6 | 36.6–58.8 | < 0.001 | |||
Overall score | 31 | 1–3 | 71.7 | 18.4 | 65.0–78.5 | Ref | 0.007† | |
72 | 4–6 | 62.8 | 18.9 | 58.4–67.2 | 0.026 | |||
17 | 7–8 | 52.9 | 20.0 | 42.6–63.2 | 0.002 | |||
Therapeutic aspects | ||||||||
Anti-seizure medication polytherapya | VAS | 52 | Yes | 58.1 | 19.0 | 52.8–64.4 | 0.178 | |
31 | No | 64.8 | 20.1 | 57.4–72.2 | ||||
Overall score | 52 | Yes | 54.9 | 17.8 | 49.9–59.8 | 0.032 | ||
31 | No | 63.5 | 18.6 | 56.6–70.3 | ||||
Everolimus | VAS | 51 | Yes | 59.3 | 22.0 | 53.1–65.5 | 0.063 | |
69 | No | 67.3 | 19.4 | 62.6–71.9 | ||||
Overall score | 51 | Yes | 60.5 | 20.0 | 54.9–66.1 | 0.212 | ||
69 | No | 66.1 | 19.1 | 61.5–70.7 | ||||
LAEP | VAS | 36 | < 35 | 76.7 | 18.0 | 70.6–82.8 | < 0.001† | |
83 | ≥35 | 58.0 | 19.3 | 53.8–62.2 | ||||
Overall score | 36 | < 35 | 80.5 | 12.7 | 76.2–84.7 | < 0.001† | ||
83 | ≥35 | 56.0 | 17.2 | 52.3–59.8 |
NDDI-e
Predictor | N | Category | Mean | ± SD | 95% CI | p-value* |
---|---|---|---|---|---|---|
Sociodemographic aspects | ||||||
Sex | 66 | Male | 12.32 | 4.0 | 11.3–13.3 | 0.767 |
55 | Female | 12.58 | 4.2 | 11.5–13.7 | ||
Age | 56 | 18–28 y | 11.8 | 4.0 | 10.8–12.9 | 0.192 |
63 | 29–61 y | 13.0 | 4.2 | 11.9–14.0 | ||
Employment | 49 | Yes | 11.8 | 3.9 | 10.7–12.9 | 0.056 |
34 | No | 13.8 | 4.6 | 12.2–15.9 | ||
Grade of disability | 38 | 0–80 | 12.5 | 4.1 | 11.2–13.9 | 0.5327 |
57 | 90–100 | 13.2 | 3.6 | 12.2–14.2 | ||
Clinical aspects | ||||||
Mutation type | 25 | TSC1 | 12.4 | 4.5 | 10.6–14.3 | 0.791 |
31 | TSC2 | 12.3 | 3.6 | 10.9–13.6 | ||
Active epilepsy | 50 | Yes | 13.2 | 3.8 | 12.2–14.3 | 0.074 |
71 | No | 11.9 | 4.2 | 10.9–12.9 | ||
Structural brain | 86 | Yes | 13.1 | 4.1 | 12.3–14.0 | 0.004† |
35 | No | 10.7 | 3.5 | 9.5–11.9 | ||
SEGA | 51 | Yes | 13.1 | 4.2 | 12.0–14.3 | 0.046 |
70 | No | 11.9 | 4.0 | 11.0–12.9 | ||
Neuropsychiatric | 60 | Yes | 13.7 | 4.0 | 12.6–14.7 | 0.001† |
61 | No | 11.3 | 3.8 | 10.3–12.2 | ||
AML | 70 | Yes | 12.3 | 4.3 | 11.3–13.4 | 0.866 |
51 | No | 12.6 | 3.8 | 11.5–13.7 | ||
Lymphangioleiomyomatosis | 12 | Yes | 12.2 | 4.1 | 9.5–14.8 | 0.878 |
109 | No | 12.5 | 4.1 | 11.7–13.3 | ||
Skin | 116 | Yes | 12.3 | 4.0 | 11.6–13.1 | 0.281 |
5 | No | 14.6 | 5.9 | 7.3–21.9 | ||
Number of affected organs | 31 | 1–3 | 11.4 | 4.1 | 9.8–12.9 | 0.006† |
73 | 4–6 | 12.3 | 4.0 | 11.4–13.3 | ||
17 | 7–8 | 14.8 | 3.6 | 13.0–16.7 | ||
Therapeutic aspects | ||||||
Anti-seizure medication polytherapya | 53 | Yes | 12.8 | 3.5 | 11.9–13.8 | 0.487 |
31 | No | 13.6 | 4.1 | 12.0–15.1 | ||
Everolimus | 51 | Yes | 12.7 | 4.1 | 11.6–13.9 | 0.351 |
70 | No | 12.2 | 4.1 | 11.3–13.2 | ||
LAEP | 36 | < 35 | 10.0 | 3.7 | 8.7–11.2 | < 0.001† |
84 | ≥35 | 13.6 | 3.7 | 12.8–14.4 |
Epilepsy stigma scale
Association between quality of life and burden of illness
Comparison of (health-related) quality of life between disorders
Predictors of health-related quality of life
Regression coefficient B | SE B | beta | p-value | Semi-partial correlation | Tolerance | |
---|---|---|---|---|---|---|
LAEP total score | −0.906 | 0.143 | −0.548 | < 0.001 | − 0.644 | f2 0.709 – large effect | 0.757 |
Active epilepsy (yes/no) | −12.608 | 2.810 | −0.358 | < 0.001 | −0.511 | f2 0.353 – large effect | 0.885 |
Neuropsychiatric symptoms (yes/no) | −10.401 | 3.312 | −0.293 | 0.003 | −0.384 | f2 0.173 – medium effect | 0.644 |
Number of affected organs | 1.234 | 1.066 | 0.102 | 0.252 | 0.152 | 0.726 |
Employment (yes/no) | 2.457 | 2.951 | 0.070 | 0.409 | 0.110 | 0.800 |
Grade of disability (≤80/> 80) | −1.081 | 3.390 | −0.030 | 0.751 | −0.042 | 0.615 |
Adjusted R2 = 0.65; F = 20.15, Sig. F. (p < 0.001) |