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Zacher, Pia; Mayer, Thomas; Brandhoff, Frank; Bartolomaeus, Tobias; Le Duc, Diana; Finzel, Martin; Heinze, Anja; Horn, Susanne; Klöckner, Chiara; Körber, Gudrun; Hentschel, Julia; Kalita, Malgorzata; Krey, Ilona; Nastainczyk-Wulf, Marina; Platzer, Konrad; Rebstock, Johannes; Popp, Bernt; Stiller, Mathias; Teichmann, Anne-Christin; Jamra, Rami Abou; Lemke, Johannes R.
Genetics in medicine, 08/2021, Volume: 23, Issue: 8Journal Article
Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are predominantly applied in children, thus limited information is available regarding adults or elderly. We investigated 150 adult/elderly individuals with NDDE by conventional karyotyping, FMR1 testing, chromosomal microarray, panel sequencing, and for unresolved cases, also by exome sequencing (nsingle = 71, ntrios = 24). We identified (likely) pathogenic variants in 71 cases (47.3%) comprising fragile X syndrome (n = 1), disease-causing copy number (n = 23), and single-nucleotide variants (n = 49). Seven individuals displayed multiple independent genetic diagnoses. The diagnostic yield correlated with the severity of intellectual disability. Individuals with anecdotal evidence of exogenic early-life events (e.g., nuchal cord, complications at delivery) with alleged/unproven association to the disorder had a particularly high yield of 58.3%. Screening for disease-specific comorbidities was indicated in 45.1% and direct treatment consequences arose in 11.8% of diagnosed individuals. Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.
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