title: Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
abstract: OBJECTIVE
  Tuberous sclerosis complex (TSC) is a progressive genetic disorder characterized by pervasive benign tumor growth. We sought to assess the current understanding of burden of TSC-related neurological manifestations.
  
  
  METHODS
  We systematically searched MEDLINE- and EMBASE-indexed, English-language literature (5/2000-5/2010) and non-indexed materials.
  
  
  RESULTS
  In total, 119 articles were included, 115 on epidemiology and treatment. Recent prevalence estimates from Ireland and Taiwan report TSC in 1:14,000-25,000 individuals, below older estimates of 1:10,000. While neurological manifestations are common, treatment is largely unaddressed by guidelines and focuses on symptoms, with resection standard for subependymal giant cell astrocytomas (SEGAs) and common practice for refractory epilepsy. Antiepileptic drugs and mammalian target of rapamycin inhibitors safely, effectively minimize the need for surgery for severe epilepsy and SEGAs.
  
  
  CONCLUSIONS
  Morbidity and treatment burden of prevalent neurological manifestations is significant, suggesting substantial economic and humanistic burden; however, these areas are poorly studied, indicating total disease burden is unknown. Future research should assess quality of life, caregiver burden, and costs.
authors.affiliation: United BioSource Corporation, Lexington, MA, USA. lindsay.hallett@unitedbiosource.com
authors.forename: Lindsay
authors.initials: L
authors.lastname: Hallett
authors.forename: Talia
authors.initials: T
authors.lastname: Foster
authors.forename: Zhimei
authors.initials: Z
authors.lastname: Liu
authors.forename: Marissa
authors.initials: M
authors.lastname: Blieden
authors.forename: Joice
authors.initials: J
authors.lastname: Valentim
mesh_terms: D000927:Anticonvulsants / Q000191:economics / Q000627:therapeutic use; D001254:Astrocytoma / Q000191:economics / Q000628:therapy; D001932:Brain Neoplasms / Q000191:economics / Q000628:therapy; D017281:Cost of Illness; D004827:Epilepsy / Q000191:economics / Q000628:therapy; D005260:Female; D006801:Humans; D016239:MEDLINE; D008297:Male; D017410:Practice Guidelines as Topic; D014402:Tuberous Sclerosis / Q000191:economics / Q000628:therapy
chemical_list: D000927:Anticonvulsants