Claire Bar1, Rouba Ghobeira2, Rita Azzi3, Dorothée Ville4, Audrey Riquet5, Renaud Touraine6, Nicole Chemaly7, Rima Nabbout8. 1. Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France. 2. Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Department of Sciences, Faculty of Sciences II, Campus Fanar, Lebanon. 3. Department of Sciences, Faculty of Sciences II, Campus Fanar, Lebanon. 4. Department of Pediatric Neurology, Femme Mère Enfant University Hospital, HCL, Bron, France. 5. Department of Pediatric Neurology, Roger Salengro University Hospital, Lille, France. 6. Department of Genetics, Hôpital Nord, Saint Etienne, France. 7. Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France. 8. Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address: rima.nabbout@aphp.fr.
Abstract
INTRODUCTION: Tuberous sclerosis complex (TSC) is a multisystemic genetic disease with high clinical variability and age-related manifestations. These characteristics add to the complexity of transition to adulthood. This study aimed to explore the perception of medical follow-up and transition experience in a large group of patients with TSC who presented epilepsy in childhood. METHOD: This multicenter French study included patients with TSC aged 18 years or older who developed epilepsy before the age of 16 years. A questionnaire specifically designed for the study explored patients' opinion through 270 questions covering different aspects of their social, familial, professional, and medical courses. RESULTS: The questionnaire was sent to 72 patients, and 60 patients were included in the study (83% response rate) with a mean age of 32 years (18-55 years). Cognitive impairment was present in 80% of patients, and half of questionnaires were completed by the family. Pediatric care was coordinated by the child neurologist and was more regular and multidisciplinary than adult care. Epilepsy had the best follow-up followed by renal issues. Unmet needs were identified for psychiatric and behavioral disorders, both in children and adults. Respondents considered the help in achieving autonomy better in adult care. Only 50% of patients with a normal intellectual development had clear knowledge about their disease and the need for a regular monitoring. Two-thirds of respondents estimated that they had a transition experience between 16.5 and 21-year-old, considered as good in 60% of them. Seventy percent felt continuity between pediatric and adult care, and only 3% of respondents felt that their care would have been better if they were still followed in pediatric healthcare system. The change of care structure and/or caregivers was the most stressful factor during transition and transfer. CONCLUSION: This study highlights persistent issues in the regularity and coordination of the follow-up of patients with TSC despite established international guidelines. Although most patients had a positive transition experience, there is still an urgent need to optimize transition programs. This would be essential to maintain care continuity between pediatric and adult health systems, especially for patients with TSC with epilepsy and high rate of cognitive and psychiatric impairments.
INTRODUCTION:Tuberous sclerosis complex (TSC) is a multisystemic genetic disease with high clinical variability and age-related manifestations. These characteristics add to the complexity of transition to adulthood. This study aimed to explore the perception of medical follow-up and transition experience in a large group of patients with TSC who presented epilepsy in childhood. METHOD: This multicenter French study included patients with TSC aged 18 years or older who developed epilepsy before the age of 16 years. A questionnaire specifically designed for the study explored patients' opinion through 270 questions covering different aspects of their social, familial, professional, and medical courses. RESULTS: The questionnaire was sent to 72 patients, and 60 patients were included in the study (83% response rate) with a mean age of 32 years (18-55 years). Cognitive impairment was present in 80% of patients, and half of questionnaires were completed by the family. Pediatric care was coordinated by the child neurologist and was more regular and multidisciplinary than adult care. Epilepsy had the best follow-up followed by renal issues. Unmet needs were identified for psychiatric and behavioral disorders, both in children and adults. Respondents considered the help in achieving autonomy better in adult care. Only 50% of patients with a normal intellectual development had clear knowledge about their disease and the need for a regular monitoring. Two-thirds of respondents estimated that they had a transition experience between 16.5 and 21-year-old, considered as good in 60% of them. Seventy percent felt continuity between pediatric and adult care, and only 3% of respondents felt that their care would have been better if they were still followed in pediatric healthcare system. The change of care structure and/or caregivers was the most stressful factor during transition and transfer. CONCLUSION: This study highlights persistent issues in the regularity and coordination of the follow-up of patients with TSC despite established international guidelines. Although most patients had a positive transition experience, there is still an urgent need to optimize transition programs. This would be essential to maintain care continuity between pediatric and adult health systems, especially for patients with TSC with epilepsy and high rate of cognitive and psychiatric impairments.
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: Ruben Marques; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; Petrus J de Vries; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C Kingswood; Anna C Jansen Journal: Front Neurol Date: 2019-10-25 Impact factor: 4.003
Authors: Stephanie Vanclooster; Stacey Bissell; Agnies M van Eeghen; Nola Chambers; Liesbeth De Waele; Anna W Byars; Jamie K Capal; Sebastián Cukier; Peter Davis; Jennifer Flinn; Sugnet Gardner-Lubbe; Tanjala Gipson; Tosca-Marie Heunis; Dena Hook; J Christopher Kingswood; Darcy A Krueger; Aubrey J Kumm; Mustafa Sahin; Eva Schoeters; Catherine Smith; Shoba Srivastava; Megumi Takei; Robert Waltereit; Anna C Jansen; Petrus J de Vries Journal: J Neurodev Disord Date: 2022-02-13 Impact factor: 4.025