Page 141 - Demo

Development and validation of the TSC-PROM1396BackgroundTuberous Sclerosis Complex (TSC) is a rare autosomal dominant genetic disorder with a prevalence of 1 in 6,000, caused by pathogenic variants in the TSC1 or TSC2 genes.1 TSC is characterized by benign tumor growth in various organ systems, including the skin, kidneys, lungs, heart, and brain.2Epilepsy is a common feature of TSC and is often present in the first year of life (80%).3 In addition, TSC is associated with varying degrees of intellectual disabilities (ID) (50%)4 and TSC-associated neuropsychiatric disorders (TAND) (90%),5 which encompass psychiatric, behavioral, intellectual, neuropsychological, academic and psychosocial manifestations.3,4 The severity of TSC manifestations can vary greatly but health perception and functioning are often severely impaired.6–9With improved healthcare, the largest population with TSC is now adult. Thus far, little is known of the burden and restrictions experienced by adults with TSC and the impact of TSC on functioning. As there is great variability in the severity of organ-specific involvement per life phase,2 adult care is often variable and fragmented, including gaps in care for TAND.5,10–12 Therefore, measuring the impact of various manifestations of TSC on functioning is both important and challenging, and could improve care and allow monitoring over time. Moreover, if individuals with TSC have learning difficulties and mental health problems, they may have difficulties indicating their symptoms or healthcare needs, resulting in unknown and hence unmet healthcare needs. This could, in turn, lead to impaired functioning.10,13,14Various outcomes have been measured to assess disease severity in TSC research. Clinical or surrogate outcomes are often narrow in their focus, and it is unclear whether changes are relevant. For instance, although (severity of) epilepsy has been directly related to functioning,6,15 reduction of seizure frequency does not always lead to improved functioning.16,17 In addition, what clinicians consider relevant is not identical to what individuals with TSC find important. The International Classification of Functioning and Disability (ICF) is a biopsychosocial model of disability based on an integration of the social and medical models of disability (World Health Organization 2001). The ICF conceptualizes a person’s level of functioning Annelieke Muller sHL.indd 139 14-11-2023 09:07