Benedikt Sonnek1, Jan Henje Döring1, Ulrike Mütze2, Susanne Schubert-Bast3, Thomas Bast4, Doreen Balke1, Gitta Reuner5, Elisabeth Schuler2, Annick Klabunde-Cherwon1, Georg F Hoffmann6, Stefan Kölker2, Steffen Syrbe7. 1. Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. 2. Division of Paediatric Neurology and Metabolic Medicine, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. 3. Centre for Paediatric Medicine, Neuropaediatric and Centre for Epilepsy Frankfurt Rhein-Main, Goethe-University, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany. 4. Clinic for Children and Adolescents, Epilepsy Centre Kork, Landstraße 1, 77694 Kehl-Kork, Germany. 5. Division of Paediatric Neurology and Metabolic Medicine, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany; Institue of Education Studies, Faculty of Behavioural and Cultural Studies, Heidelberg University, Akademiestr. 3, 69117 Heidelberg, Germany. 6. Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany; Division of Paediatric Neurology and Metabolic Medicine, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. 7. Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: steffen.syrbe@med.uni-heidelberg.de.
Abstract
OBJECTIVE: Continuous spikes and waves during sleep (CSWS) is an epileptic encephalopathy characterized by generalised epileptiform activity and neurocognitive dysfunction. Causes and outcome are diverse and treatment is mainly empirical. METHODS: Retrospective descriptive analysis of clinical and EEG data of children with CSWS diagnosed between 1998 and 2018 at the University Hospital Heidelberg. RESULTS: Ninety-five children were included with a median age at diagnosis of 5.4 years. A structural/metabolic aetiology was found in 43.2%, genetic alterations in 17.9%, while it remained unknown in 38.9%. The proportion of patients with genetic aetiology increased from 10.3% (1998-2007) to 22.8% (2008-2018). On average, each patient received 5 different treatments. CSWS was refractory in >70% of cases, steroids and neurosurgery were most effective. No difference was observed between children with CSWS or Near-CSWS (Spike-Wave-Index 40-85%). CONCLUSIONS: Our cohort confirms CSWS as an age-dependent epileptic encephalopathy. Structural brain abnormalities were most frequent, but genetic causes are increasingly identified. More specific criteria for the diagnosis and treatment goals should be elaborated and implemented based on evidence. SIGNIFICANCE: This study is the largest monocentric observational study on treatment effects in children with CSWS, providing data for diagnostic and therapeutic decisions.
OBJECTIVE: Continuous spikes and waves during sleep (CSWS) is an epileptic encephalopathy characterized by generalised epileptiform activity and neurocognitive dysfunction. Causes and outcome are diverse and treatment is mainly empirical. METHODS: Retrospective descriptive analysis of clinical and EEG data of children with CSWS diagnosed between 1998 and 2018 at the University Hospital Heidelberg. RESULTS: Ninety-five children were included with a median age at diagnosis of 5.4 years. A structural/metabolic aetiology was found in 43.2%, genetic alterations in 17.9%, while it remained unknown in 38.9%. The proportion of patients with genetic aetiology increased from 10.3% (1998-2007) to 22.8% (2008-2018). On average, each patient received 5 different treatments. CSWS was refractory in >70% of cases, steroids and neurosurgery were most effective. No difference was observed between children with CSWS or Near-CSWS (Spike-Wave-Index 40-85%). CONCLUSIONS: Our cohort confirms CSWS as an age-dependent epileptic encephalopathy. Structural brain abnormalities were most frequent, but genetic causes are increasingly identified. More specific criteria for the diagnosis and treatment goals should be elaborated and implemented based on evidence. SIGNIFICANCE: This study is the largest monocentric observational study on treatment effects in children with CSWS, providing data for diagnostic and therapeutic decisions.
Authors: Inga Harting; Steffen Syrbe; Julian Schröter; Bernt Popp; Heiko Brennenstuhl; Jan H Döring; Stephany H Donze; Emilia K Bijlsma; Arie van Haeringen; Dagmar Huhle; Leonie Jestaedt; Andreas Merkenschlager; Maria Arelin; Daniel Gräfe; Sonja Neuser; Stephanie Oates; Deb K Pal; Michael J Parker; Johannes R Lemke; Georg F Hoffmann; Stefan Kölker Journal: Eur J Hum Genet Date: 2022-01-11 Impact factor: 4.246