Published ahead of print 3 May 2022

 

DOI: https://doi.org/10.12740/PP/OnlineFirst/146265

 

Anna B. Marcinkowska, Agnieszka Tarasewicz, Sergiusz Jóźwiak,

 

The aim of the study was to provide a state-of-the-art review with regard to neuropsychiatric disorders associated with tuberous sclerosis complex (TSC). TSC is a rare genetic disease classified as a phacomatosis. Due to the wide spectrum of clinical symptoms of the disease, many cases remain undiagnosed. The vast majority of people with a mutation in the TSC1 or TSC2 genes develop some of the neuropsychiatric symptoms during their lifetime. Diagnostic criteria, neuroanatomical pathology and pathophysiology of psychiatric, neuropsychological, developmental and psychosocial symptoms present in TSC are described. The specificity of epilepsy in TSC and its role in neuropsychiatric and neuropsychological development are presented. All levels (intellectual, developmental, behavioral, psychiatric, school, neuropsychological and psychosocial) of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) are discussed in detail. The TAND Checklist – a tool for assessing all potentially disturbed aspects of functioning – was presented. The importance of proper diagnosis of neuropsychiatric disorders and multidisciplinary patient care was emphasized.