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

Anna Jansen ,Renaud Touraine,Sotiris Youroukos,J Chris Kingswood,Rima Nabbout,Yukitoshi Takahashi,Petrus J De Vries,Paolo Curatolo,Jiong Qin,Matthias Sauter,Vincent Cottin,Carla Fladrowski,Finbar O'Callaghan,Maria Dahlin,Alfons Macaya,Elena Belousova,Stephanie Vanclooster,Christoph Hertzberg,John A Lawson,Martha Feucht,Valentin Sander,Seema Shah,Bernard A Zonnenberg ,Rúben Marques ,José Carlos Ferreira ,Sergiusz Jóźwiak ,Guillaume Beaure D’augères ,Lisa D’amato ,Thomas Carter ,Mirjana P Benedik

doi:10.3389/fneur.2020.00904

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.

Highlights

METHODSTuberous sclerosis complex (TSC) is a multi-system genetic disorder with a global incidence of 1 per 6,000–10,000 live births
We present findings from one of the research projects focusing on burden of illness (BOI) and quality of life (QoL) in individuals with TSC
Selection of countries participating in this research project was based on the availability of the validated QoL questionnaires in the primary language used in that country

Summary

Introduction

METHODSTuberous sclerosis complex (TSC) is a multi-system genetic disorder with a global incidence of 1 per 6,000–10,000 live births. Over a million people are estimated to be affected worldwide [1] It is characterised by growth of benign tumours in various organs throughout the body, including the brain, kidney, lungs, and skin [2]. It is associated with behavioural, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, grouped under the umbrella term TAND (TSCAssociated Neuropsychiatric Disorders) [3, 4]. The clinical presentation of TSC manifestations is complex [5,6,7,8]. Individuals with TSC are expected to have lifelong follow-up care to ensure the early detection of potentially life-threatening complications. The diverse clinical presentation represents significant disease, healthcare, and treatment burden [9]

Objectives

Methods

Results

Discussion

Conclusion