Hajo M Hamer1, Margarete Pfäfflin2, Hartmut Baier3, Frank Bösebeck4, Melanie Franz5, Martin Holtkamp6, Gerhard Kurlemann7, Theodor W May2, Thomas Mayer8, Mirjam Metzner5, Bernhard J Steinhoff9, Stefan Stodieck10, Hans-Beatus Straub11, Yvonne G Weber12, Christian Brandt13. 1. Epilepsiezentrum, Neurologische Klinik, Universitätsklinikum Erlangen, Germany. Electronic address: hajo.hamer@uk-erlangen.de. 2. Gesellschaft für Epilepsieforschung e.V., Bielefeld, Germany. 3. Epilepsiezentrum Bodensee, Weissenau, Germany. 4. Epilepsiezentrum Rotenburg, Germany. 5. Novartis Pharma GmbH, Nürnberg, Germany. 6. Epilepsie-Zentrum Berlin-Brandenburg, Ev. Krankenhaus Königin Elisabeth Herzberge, Berlin, Germany. 7. Bereich Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Universitätsklinikum Münster, Germany. 8. Sächsisches Epilepsiezentrum Radeberg, Kleinwachau, Germany. 9. Epilepsiezentrum Kork, Germany. 10. Epilepsiezentrum Hamburg, Evangelisches Krankenhaus Alsterdorf, Germany. 11. Epilepsie-Zentrum Berlin-Brandenburg, Epilepsieklinik Tabor, Bernau, Germany. 12. Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie-Institut für klinische Hirnforschung, Universität Tübingen, Germany. 13. Epilepsie-Zentrum Bethel, Krankenhaus Mara, Bielefeld, Germany.
Abstract
OBJECTIVE: The objective of the present study was to collect systematic data on the care of adult patients with tuberous sclerosis complex (TSC) in German epilepsy centers, to describe the characteristics of patients in this age group, and to clarify whether and how the recommended interdisciplinary care is implemented. METHODS: This retrospective survey involved 12 major epilepsy centers in Germany. Aggregated data were collected based on an electronic questionnaire that addressed the sociodemographic data, characteristics of the epilepsy syndromes, and general healthcare setting of adult patients with TSC. RESULTS: The survey included 262 patients (mean age: 36.2±9.0years) with TSC, most of whom were reported to live in either a home for persons with a disability (37.0%), a residential care home (6.9%), or with their parents (31.1%). A further 13.0% were self-sustaining, and 8.8% were living with a partner. Most patients presented with focal (49.6%) or multifocal (33.2%) epilepsy, with complex partial, dialeptic, and automotor seizures in 66% of patients and generalized tonic-clonic seizures in 63%. Drug-refractory epilepsy was seen in 78.2% of patients, and 17.6% were seizure-free at the time of the survey. Of the 262 patients, presurgical diagnostics were performed in 27% and epilepsy surgery in 9%, which rendered 50% of these patients seizure-free. Renal screening had been performed in 56.1% within the last three years and was scheduled to be performed in 58.0%. Cases of renal angiomyolipoma were present in 46.9% of the patients. Dermatologic and pulmonary screenings were known to be planned for only few patients. CONCLUSION: Despite TSC being a multisystem disorder causing considerable impairment, every fifth adult patient is self-sustaining or living with a partner. In clinical practice, uncontrolled epilepsy and renal angiomyolipoma are of major importance in adult patients with TSC. Most patients suffer from focal or multifocal epilepsy, but epilepsy surgery is performed in less than 10% of these patients. Interdisciplinary TSC centers may help to optimize the management of patients with TSC regardless of age and ensure early and adequate treatment that also considers the advances in new therapeutic options.
OBJECTIVE: The objective of the present study was to collect systematic data on the care of adult patients with tuberous sclerosis complex (TSC) in German epilepsy centers, to describe the characteristics of patients in this age group, and to clarify whether and how the recommended interdisciplinary care is implemented. METHODS: This retrospective survey involved 12 major epilepsy centers in Germany. Aggregated data were collected based on an electronic questionnaire that addressed the sociodemographic data, characteristics of the epilepsy syndromes, and general healthcare setting of adult patients with TSC. RESULTS: The survey included 262 patients (mean age: 36.2±9.0years) with TSC, most of whom were reported to live in either a home for persons with a disability (37.0%), a residential care home (6.9%), or with their parents (31.1%). A further 13.0% were self-sustaining, and 8.8% were living with a partner. Most patients presented with focal (49.6%) or multifocal (33.2%) epilepsy, with complex partial, dialeptic, and automotor seizures in 66% of patients and generalized tonic-clonic seizures in 63%. Drug-refractory epilepsy was seen in 78.2% of patients, and 17.6% were seizure-free at the time of the survey. Of the 262 patients, presurgical diagnostics were performed in 27% and epilepsy surgery in 9%, which rendered 50% of these patientsseizure-free. Renal screening had been performed in 56.1% within the last three years and was scheduled to be performed in 58.0%. Cases of renal angiomyolipoma were present in 46.9% of the patients. Dermatologic and pulmonary screenings were known to be planned for only few patients. CONCLUSION: Despite TSC being a multisystem disorder causing considerable impairment, every fifth adult patient is self-sustaining or living with a partner. In clinical practice, uncontrolled epilepsy and renal angiomyolipoma are of major importance in adult patients with TSC. Most patients suffer from focal or multifocal epilepsy, but epilepsy surgery is performed in less than 10% of these patients. Interdisciplinary TSC centers may help to optimize the management of patients with TSC regardless of age and ensure early and adequate treatment that also considers the advances in new therapeutic options.
Authors: Johann Philipp Zöllner; David Neal Franz; Christoph Hertzberg; Rima Nabbout; Felix Rosenow; Matthias Sauter; Susanne Schubert-Bast; Adelheid Wiemer-Kruel; Adam Strzelczyk Journal: Orphanet J Rare Dis Date: 2020-01-21 Impact factor: 4.123
Authors: Angela Peron; Maria Paola Canevini; Filippo Ghelma; Fabiano Di Marco; Aglaia Vignoli Journal: Am J Med Genet C Semin Med Genet Date: 2018-09-25 Impact factor: 3.908