Frontiers in Neurology (Aug 2020)
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
- Anna C. Jansen,
- Anna C. Jansen,
- Stephanie Vanclooster,
- Petrus J. de Vries,
- Carla Fladrowski,
- Carla Fladrowski,
- Guillaume Beaure d'Augères,
- Tom Carter,
- Elena Belousova,
- Mirjana P. Benedik,
- Vincent Cottin,
- Paolo Curatolo,
- Maria Dahlin,
- Lisa D'Amato,
- José C. Ferreira,
- Martha Feucht,
- Christoph Hertzberg,
- Sergiusz Jozwiak,
- Sergiusz Jozwiak,
- John A. Lawson,
- Alfons Macaya,
- Ruben Marques,
- Ruben Marques,
- Rima Nabbout,
- Finbar O'Callaghan,
- Jiong Qin,
- Valentin Sander,
- Matthias Sauter,
- Seema Shah,
- Yukitoshi Takahashi,
- Renaud Touraine,
- Sotiris Youroukos,
- Bernard Zonnenberg,
- J. Chris Kingswood
Affiliations
- Anna C. Jansen
- Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium
- Anna C. Jansen
- Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium
- Stephanie Vanclooster
- Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium
- Petrus J. de Vries
- Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa
- Carla Fladrowski
- Associazione Sclerosi Tuberosa ONLUS, Milan, Italy
- Carla Fladrowski
- European Tuberous Sclerosis Complex Association, In den Birken, Dattein, Germany
- Guillaume Beaure d'Augères
- Association Sclérose Tubéreuse de Bourneville, Gradignan, France
- Tom Carter
- TSA Tuberous Sclerosis Association, Nottingham, United Kingdom
- Elena Belousova
- Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia
- Mirjana P. Benedik
- SPS Pediatrična Klinika, Ljubljana, Slovenia
- Vincent Cottin
- 0Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France
- Paolo Curatolo
- 1Tor Vergata University Hospital, Rome, Italy
- Maria Dahlin
- 2Karolinska University Hospital, Stockholm, Sweden
- Lisa D'Amato
- 3Novartis Farma S.p.A., Origgio, Italy
- José C. Ferreira
- 4Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal
- Martha Feucht
- 5Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Affiliated Partner of the ERN EpiCARE, Vienna, Austria
- Christoph Hertzberg
- 6Vivantes-Klinikum Neukölln, Berlin, Germany
- Sergiusz Jozwiak
- 7Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland
- Sergiusz Jozwiak
- 8Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland
- John A. Lawson
- 9The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia
- Alfons Macaya
- 0Hospital Universitari Vall d'Hebron, Barcelona, Spain
- Ruben Marques
- 3Novartis Farma S.p.A., Origgio, Italy
- Ruben Marques
- 1Institute of Biomedicine (IBIOMED), University of Leon, León, Spain
- Rima Nabbout
- 2Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France
- Finbar O'Callaghan
- 3Institute of Child Health, University College London, London, United Kingdom
- Jiong Qin
- 4Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China
- Valentin Sander
- 5Tallinn Children Hospital, Tallinn, Estonia
- Matthias Sauter
- 6Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany
- Seema Shah
- 7Novartis Healthcare Pvt Ltd, Hyderabad, India
- Yukitoshi Takahashi
- 8National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan
- Renaud Touraine
- 9Department of Genetics, CHU-Hôpital Nord, Saint Etienne, France
- Sotiris Youroukos
- 0St. Sophia Children's Hospital, Athens, Greece
- Bernard Zonnenberg
- 1University Medical Center, Utrecht, Netherlands
- J. Chris Kingswood
- 2Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, United Kingdom
- DOI
- https://doi.org/10.3389/fneur.2020.00904
- Journal volume & issue
-
Vol. 11
Abstract
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.
Keywords
