Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

Frontiers in Neurology

Alfons Macaya¹  Vincent Cottin²  Sotiris Youroukos³  Ruben Marques⁴  Paolo Curatolo⁵  Bernard Zonnenberg⁶  J. Chris Kingswood⁷  Rima Nabbout⁸  Maria Dahlin⁹  Finbar O'Callaghan^1,10  Lisa D'Amato^1,11  José C. Ferreira^1,12  Jiong Qin^1,13  Martha Feucht^1,14  Valentin Sander^1,15  Matthias Sauter^1,16  Christoph Hertzberg^1,17  Seema Shah^1,19  Sergiusz Jozwiak^2,20  Yukitoshi Takahashi^2,21  Renaud Touraine^2,22  John A. Lawson^2,23  Guillaume Beaure d'Augères^2,24  Anna C. Jansen^2,26  Stephanie Vanclooster^2,26  Petrus J. de Vries^2,27  Carla Fladrowski^2,28  Elena Belousova^3,30  Mirjana P. Benedik^3,31  Tom Carter^3,32 

[1] 0Hospital Universitari Vall d'Hebron, Barcelona, Spain;0Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France;0St. Sophia Children's Hospital, Athens, Greece;1Institute of Biomedicine (IBIOMED), University of Leon, León, Spain;1Tor Vergata University Hospital, Rome, Italy;1University Medical Center, Utrecht, Netherlands;2Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, United Kingdom;2Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France;2Karolinska University Hospital, Stockholm, Sweden;3Institute of Child Health, University College London, London, United Kingdom;3Novartis Farma S.p.A., Origgio, Italy;4Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal;4Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China;5Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Affiliated Partner of the ERN EpiCARE, Vienna, Austria;5Tallinn Children Hospital, Tallinn, Estonia;6Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany;6Vivantes-Klinikum Neukölln, Berlin, Germany;7Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland;7Novartis Healthcare Pvt Ltd, Hyderabad, India;8Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland;8National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan;9Department of Genetics, CHU-Hôpital Nord, Saint Etienne, France;9The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia;Association Sclérose Tubéreuse de Bourneville, Gradignan, France;Associazione Sclerosi Tuberosa ONLUS, Milan, Italy;Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium;Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa;European Tuberous Sclerosis Complex Association, In den Birken, Dattein, Germany;Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium;Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia;SPS Pediatrična Klinika, Ljubljana, Slovenia;TSA Tuberous Sclerosis Association, Nottingham, United Kingdom;

关键词: tuberous sclerosis complex;    quality of life;    burden of illness;    epilepsy;    TOSCA;   

DOI  :  10.3389/fneur.2020.00904

来源: DOAJ

【 摘 要 】

Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the impact of TSC on health, quality of life (QoL), and psychosocial well-being of individuals with TSC and their families. Questionnaires with disease-specific questions on burden of illness (BOI) and validated QoL questionnaires were used. After completion of additional informed consent, we included 143 individuals who participated in the TOSCA (TuberOus SClerosis registry to increase disease Awareness) study. Our results highlighted the substantial burden of TSC on the personal lives of individuals with TSC and their families. Nearly half of the patients experienced negative progress in their education or career due to TSC (42.1%), as well as many of their caregivers (17.6% employed; 58.8% unemployed). Most caregivers (76.5%) indicated that TSC affected family life, and social and working relationships. Further, well-coordinated care was lacking: a smooth transition from pediatric to adult care was mentioned by only 36.8% of adult patients, and financial, social, and psychological support in 21.1, 0, and 7.9%, respectively. In addition, the moderate rates of pain/discomfort (35%) and anxiety/depression (43.4%) reported across all ages and levels of disease demonstrate the high BOI and low QoL in this vulnerable population.

【 授权许可】

Unknown