title: Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Tuberous Sclerosis Clinic, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Tanjala T
authors: TT
authors: Gipson
authors: Neurobehavioral Unit, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Heather
authors: H
authors: Jennett
authors: Neurobehavioral Unit, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Lee
authors: L
authors: Wachtel
authors: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Mary
authors: M
authors: Gregory
authors: Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors: Andrea
authors: A
authors: Poretti
authors: Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Michael V
authors: MV
authors: Johnston
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