Page 153 - Demo

Development and validation of the TSC-PROM1516The sociodemographic and demographic and clinical characteristics are presented in Table 1. Seven participants reported other nationalities, including Canadian, Australian, British, Spanish, and Finnish.Table 1. Sociodemographic and clinical characteristics of participants.Sociodemographic and clinical characteristics Self (n=85) Proxy (n=78)% %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 0.0Nationality 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 3.8Age diagnosis TSC (years) 20.7 (range 0-59) 4.2 (range 0-35)Genetic cause * 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 15.4Organs 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 23.1Annelieke Muller sHL.indd 151 27-11-2023 09:15