Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany

Neurological Research and Practice

Bianca Zukunft¹  Felix von Podewils²  Charlotte Thiels³  Sascha Meyer⁴  Astrid Bertsche⁵  Christoph Hertzberg⁶  Klaus Marquard⁷  Markus Knuf⁸  Hannah Schäfer⁹  Johann Philipp Zöllner^1,10  Anna H. Noda^1,10  Nadine Conradi^1,10  Laurent M. Willems^1,10  Janina Grau^1,10  Felix Rosenow^1,10  Susanne Schubert-Bast^1,11  Karl Martin Klein^1,12  Adam Strzelczyk^1,13  Susanne Knake^1,14  Ilka Immisch^1,14  Thomas Mayer^1,15  Jens-Peter Reese^1,16  Matthias Sauter^1,17  Gerhard Kurlemann^1,18 

[1] Department of Nephrology and Internal Intensive Care, Charité - University Medicine Berlin, Berlin, Germany;Department of Neurology, Epilepsy Center, University Medicine Greifswald, Greifswald, Germany;Department of Neuropediatrics and Social Pediatrics, Ruhr University Bochum, Bochum, Germany;Department of Neuropediatrics, University Children’s Hospital of Saarland, Homburg, Germany;Department of Neuropediatrics, University Hospital for Children and Adolescents, Rostock, Germany;Department of Neuropediatrics, Vivantes Klinikum Neukölln, Berlin, Germany;Department of Pediatric Neurology, Psychosomatics and Pain Management, Klinikum Stuttgart, Stuttgart, Germany;Department of Pediatrics, Klinikum Worms, Worms, Germany;Department of Pediatrics, University Medicine Mainz, Mainz, Germany;Division of Nephrology, Medizinische Klinik und Poliklinik IV, Klinikum der LMU München – Innenstadt, Munich, Germany;Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany;Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe-University Frankfurt, Schleusenweg 2-16 (Haus 95), 60528, Frankfurt am Main, Germany;Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany;Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe-University Frankfurt, Schleusenweg 2-16 (Haus 95), 60528, Frankfurt am Main, Germany;Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany;Department of Neuropediatrics, Goethe-University Frankfurt, Frankfurt am Main, Germany;Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe-University Frankfurt, Schleusenweg 2-16 (Haus 95), 60528, Frankfurt am Main, Germany;Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany;Departments of Clinical Neurosciences, Medical Genetics, and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada;Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe-University Frankfurt, Schleusenweg 2-16 (Haus 95), 60528, Frankfurt am Main, Germany;Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany;Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany;Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany;Epilepsy Center Kleinwachau, Radeberg, Germany;Institute of Clinical Epidemiology and Biometry, University of Würzburg, Würzburg, Germany;Klinikum Kempten, Klinikverbund Allgäu, Kempten/Allgäu, Germany;St. Bonifatius Hospital, Lingen, Germany;

关键词: TSC;    Tuberous sclerosis complex;    Seizure;    Epilepsy;    Organ manifestations;    Quality of life;    Rare disease;    EQ-5D;    QOLIE-31;    mTOR inhibitor;   

DOI  :  10.1186/s42466-021-00130-3

来源: Springer

【 摘 要 】

BackgroundTuberous sclerosis complex (TSC) is a monogenetic, multisystemic disease characterised by the formation of benign tumours that can affect almost all organs, caused by pathogenic variations in TSC1 or TSC2. In this multicentre study from Germany, we investigated the influence of sociodemographic, clinical, and therapeutic factors on quality of life (QoL) among individuals with TSC.MethodsWe assessed sociodemographic and clinical characteristics and QoL among adults with TSC throughout Germany using a validated, three-month, retrospective questionnaire. We examined predictors of health-related QoL (HRQoL) using multiple linear regression analysis and compared the QoL among patients with TSC with QoL among patients with other chronic neurological disorders.ResultsWe enrolled 121 adults with TSC (mean age: 31.0 ± 10.5 years; range: 18–61 years, 45.5% [n = 55] women). Unemployment, a higher grade of disability, a higher number of organ manifestations, the presence of neuropsychiatric manifestations or active epilepsy, and a higher burden of therapy-related adverse events were associated with worse QoL, as measured by two QoL instruments (EuroQoL-5 dimensions [EQ-5D] and Quality of Life in Epilepsy Patients [QOLIE-31]). Neuropsychiatric and structural nervous system manifestations, the number of affected organs, and therapy-related adverse events were also associated with higher depression, as measured by the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E). In multiple regression analysis, more severe therapy-related adverse events (large effect, p < 0.001), active epilepsy (large effect, p < 0.001), and neuropsychiatric manifestations (medium effect, p = 0.003) were independently associated with worse HRQoL, explaining 65% of the variance (p < 0.001). The HRQoL among patients with active TSC-associated epilepsy was worse than that among patients with drug-refractory mesial temporal lobe epilepsy (p < 0.001), and the generic QoL among patients with more than three TSC organ manifestations was similar to those of patients with severe migraine and uncontrolled asthma.ConclusionsActive epilepsy, neuropsychiatric manifestations (such as anxiety and depression), and therapy-related adverse events are important independent predictors of worse quality of life among adults with TSC. Generic quality of life in TSC with several manifestations is similar to uncontrolled severe chronic diseases and significantly negatively correlates with TSC severity.Trial registrationDRKS, DRKS00016045. Registered 01 March 2019.

【 授权许可】

CC BY