Page 277 - Demo

Reporting of genetic diagnoses in multidisciplinary intellectual disability care2758Supplementary materials Table A. Factors associated with availability of information on genetic etiology in care files using univariate analyses (N = 380). Variable Effect size pAge r = -0.16 .002Sex X2 = 0.049 0.83Level of ID X2 = 28.898 <.001Location of receiving care X2 = 29.567 .08Medical care on site X2 = 0.349 .55Legal representative X2 = 17.323 <.001ID, intellectual disability.Table B. Genetic diagnoses as reported in the electronic care system. Reported genetic diagnosis OMIM N Genetic test results unavailableDown syndrome 190685 15 15Fragile X syndrome 300624 8 7Smith-Magenis syndrome 182290; 607642 5 322q11.2 deletion syndrome 188400; 192430 4 1Epileptic encephalopathy 176260 2Prader-Willi syndrome 176270; 615547 2 1Pitt-Hopkins syndrome 610954 2 118p duplication syndrome N.A. 118p deletion syndrome N.A. 1ZNF292 syndrome 619188 1Miller-Dieker syndrome 247200 11q21.1 microdeletion syndrome 612474 1Trisomy 9p N.A. 1PURA syndrome 616158 1Alpha-thalassemia-intellectual disability syndrome 141750 1Tuberous Sclerosis Complex 191100; 613254 1 1Schindler disease 609241; 609242 1 1Williams syndrome 194050 1 1DeSanto Shinawi syndrome 616708 1 1WDFY3-related syndrome N.A. 1Total 51 32Annelieke Muller sHL.indd 275 14-11-2023 09:08