Page 260 - Demo

Chapter 8258Table 1. Demographic and clinical characteristics of the study sample. Total study sample Information available on genetic etiologyN = 380 N = 151Demographics N % N %Age <18 years 19 5.0 9 6.0 ≥18 years 361 95.0 142 94.0Sex, female 180 47.4 70 46.4Legal representative None 45 11.8 10 6.6 Family member 249 65.5 118 78.1 Professional/other 86 22.6 23 15.2ID physician involved 253 66.6 102 67.524h/day care 313 82.3 121 80.1ClinicalSeverity of ID a Mild 110 28.9 22 14.8 Moderate 130 34.2 56 37.6 Severe 97 25.5 54 36.2 Profound 41 10.8 17 11.4a Severity of ID was unknown in two individuals.ID, intellectual disability.Genetic diagnoses in multidisciplinary ID careOf the total study sample, information on genetic etiology was reported in the electronic care system of 151 individuals (40%) (Figure 2). If information was recorded, most often it concerned negative test results (64/151), followed by a genetic diagnosis (51/151), variants of uncertain significance (VUS) (21/151), and clinical diagnosis or genetic variants mentioned as cause of ID although insufficiently or incorrectly described to be considered a genetic diagnosis (15/151). Particularly, in psychodiagnostics files or files used by professional caregivers, these VUS or genetic variants not considered a genetic diagnosis were mentioned as cause of the ID. The information on reported genetic cause of ID was reported in the different care files used by physicians (90%), psychologists (39%), and professional caregivers (75%) (Figure 3). Cochran’s Q test revealed a statistically significant difference in Annelieke Muller sHL.indd 258 14-11-2023 09:07