Page 264 - Demo

Chapter 8262Table 3. Variables on 151 individuals for whom a genetic diagnosis and/or genetic testing results were reported in care files. Variables N %Genetic testing reported 141 93.4First genetic test: <18 years 57 40.4 ≥18 years 74 52.5 Not reported 10 7.1Last time referred for genetic counseling to geneticist by: Intellectual disability physician 38 25.2 Pediatrician 14 9.3 General practitioner 9 6.0 Other medical specialist 4 2.6 Not reported 86 57.0Of those individuals with genetic test results reported, 57 (40.4%) had their first genetic test during childhood and 74 (52.5%) individuals during adulthood. Individuals who had their first genetic test in childhood received significantly more genetic diagnoses (X2 (1, N = 141) = 10.137, p = .001). There was no significant difference in ID severity between individuals who had their first genetic test during childhood or adulthood (X2 (3, N = 140) = 7.434, p = .059).Reported genetic testing over the yearsOver the years, the frequency and types of genetic tests changed (Table 4; Figure 4). Before 2005, mainly karyotyping, fluorescent in-situ hybridization (FISH) and Fragile X testing were performed. From 2005, microarrays were reported. Exome sequencing within this population was reported since 2013, with the exception of one reported in 2008 (possibly incorrect, considering the advent of this technique). Before 1995, the majority of genetic tests were reported to be performed in children and young adults, while older adults were incidentally tested. In 2004, the first individual over the age of 60 years was tested, and since then 14 more. In the last two decades, older individuals have been increasingly Annelieke Muller sHL.indd 262 14-11-2023 09:07