ICNC Abstracts, ICNC 2018

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Burden of Illness and Quality of Life among Patients with Tuberous Sclerosis Complex: Findings from TOSCA Research Project
Anna C Jansen, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume B d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood

Last modified: 2018-09-09

Abstract


Introduction: Burden of illness (BOI) in TSC and impact on quality of life (QoL) of patients and/or their caregivers were evaluated as part of the TOSCA research project.

Methods: Patients/caregivers completed a questionnaire with disease-specific questions on BOI and validated QoL questionnaires. In addition, thematic analysis of caregivers’ experiences was performed.

Results: 143 patients (55 aged ≥18 years [38 self-reported and 17 caregiver-reported]; 44 aged ≤ 10 years and 25 aged 11-17 years [caregiver-reported]; 17 aged 11-17 years [self-reported]) were enrolled from 7 European countries. Median duration of TSC was 11.2 years (range, 1.6-43.5). 80% of adults and 58% of children were managed by a TSC specialist. 25.5% of adults and 23.9% children needed extra assistance at home. 41.8% of adults and 56.8% of children felt social services provided inadequate support and information. Career/education had been adversely impacted in 50.9% of adults and 56.8% of children. Interpersonal relationships within or outside the family were adversely affected in 52.7% of adults and 46.6% of children. 41.8% of adults and 52.1% of children were in contact with a TSC association. Genetic testing was performed in 81.8% of patients, but counseling was lacking in 23.1%. Smooth transition from pediatric to adult care was reported in 41.8%. Pain/discomfort and anxiety/depression were frequently reported in both adults (41.8% and 49.1%) and children (35.2% and 46.6%), respectively.

Conclusion: TSC affects the lives of patients and families in multiple ways and different domains. Further research is needed in order to effectively and globally alleviate this burden.


Keywords


Burden of illness; Tuberous Sclerosis Complex; TOSCA; Quality of life

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