Background: Self-injury and aggression have been reported in individuals with TSC (tuberous sclerosis complex), yet few data exist about treatment. Everolimus, an mTOR inhibitor, has been FDA-approved for subependymal giant cell astrocytomas (SEGAs) and renal angiomyolipomas in TSC. However, clinical use of everolimus with direct, real-time observations of self-injury and aggression in an individual with TSC has not been reported.
Methods: During an inpatient admission to a neurobehavioral unit, real-time measurements of behaviors and seizures were recorded. An interdisciplinary team used these data to make treatment decisions and applied behavioral and pharmacological treatments, one at a time, in order to evaluate their effects.
Results: Aggression and self-injury improved with applied behavioral analysis (ABA), lithium, and asenapine. Improvements in SEGA size, facial angiofibromas, seizures, and the most stable low rates of self-injury were observed during the interval of treatment with everolimus.
Conclusion: Mechanism-based treatments in the setting of an evidence-based behavioral and psychopharmacological intervention program may be a model with utility for characterization and treatment of individuals with severe behavior and TSC.
Keywords: ABA, applied behavioral analysis; Aggression; Behavioral intervention and epilepsy; CYP3A4, cytochrome p450 3A4; Everolimus; FDA, Food and Drug Administration; SEGA, subependymal giant cell astrocytoma; Self-injury; TSC, tuberous sclerosis complex; Tuberous sclerosis complex; mTOR, mammalian target of rapamycin; mTORC, mammalian target of rapamycin complex.