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Chapter 8256assessments, intelligence tests and adaptive behavior assessments,2genetic diagnosis, whether genetic diagnostics were performed, details on genetic test results if applicable, and at what age, referred by whom, total amount of genetic tests (until diagnosis), type of etiological (genetic or metabolic) test performed, the year in which it was performed, test results including classification of pathogenicity and genetic diagnosis causing the ID. A diagnosis was considered confirmed if a genetic test was performed and the specific diagnosis was confirmed with a letter from a clinical geneticist or with an available genetic test result. If no such report was available, it was assessed whether the genetic diagnosis was likely, based on available information and expert opinion (MvH, MA, AM, SN, AvE). Furthermore, given that separate files are used by specific HCPs, it was noted whether 1) medical files, 2) psychodiagnostic files used by psychologists, behavioral experts and therapists, and/or 3) files used by professional caregivers including daily care records and individual support plans were available and whether the information on genetic etiology was mentioned in these files (Figure 1). Also, it was noted whether the involved physician was ID physician or general practitioner. Data analysesDemographic and clinical characteristics were described and it was examined to what extent information on genetic etiology was available in medical files, psychodiagnostic files, and files used by professional caregivers. If a genetic cause for ID was reported in any file, it was examined whether this information was also available in files from the other disciplines as well. Independent t-tests, analyses of variance (ANOVAs), and chi-squared tests were performed to investigate whether demographic and clinical variables were associated with availability of information on genetic etiology. These variables included medical care on site, ID physician part of care team, living situation, legal representative, age, sex, and level of ID. Mann-Whitney U tests, Kruskal-Wallis or Fisher’s exact tests were used when assumptions for parametric analyses were not met. Post hoc analysis was performed using cell-wise adjusted standardized residual analysis with a Bonferroni adjusted α. A logistic regression analysis was performed to ascertain the relative effects of the associated variables on the likelihood that individuals have information on genetic etiology reported, Annelieke Muller sHL.indd 256 14-11-2023 09:07