title: Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers.
abstract: OBJECTIVE
  Facial angiofibromas (AF) have the potential to cause disfigurement in children with tuberous sclerosis complex (TSC). Facial disfigurement can impact the quality of life (QoL) of individuals and their families, leading to negative psychosocial outcomes. QoL has not been studied in TSC patients with AF.
  
  
  METHODS
  We conducted a cross-sectional survey study to investigate QoL of TSC patients with AF and their caregivers and to explore the current state of access to treatment for AF. TSC patients and caregivers in TSC clinic at Boston Children's Hospital and through the Tuberous Sclerosis Alliance were recruited to complete QoL surveys including the CADIS, CDLQI, and Skindex-teen questionnaires, and a survey on access to treatment of AF.
  
  
  RESULTS
  Fifty-eight patients with TSC and 161 caregivers participated in the study. Caregivers of patients with AF had significantly poorer QoL scores compared to caregivers of those without AF, as measured by a modified CADIS questionnaire (mean 31.7 vs. 11.7, p = 0.004). Among patients with AF, those who received treatment had significantly better QoL scores compared with those without treatment, as measured by the CDLQI (mean 3.8 vs. 9.5, p = 0.001). Forty-one and two-tenths percent of subjects reported never receiving treatment for AF. Forty-seven and three-tenths percent of subjects were prescribed topical rapamycin, 47.7% of whom experienced difficulty with insurance coverage.
  
  
  CONCLUSIONS
  Presence and lack of treatment of AF significantly impacts QoL in TSC patients and their caregivers. Access to care for AF is limited by multiple factors and should be addressed by clinicians working with this patient population.
authors.affiliation: Harvard Medical School, Boston, Massachusetts.
authors.forename: Cary
authors.initials: C
authors.lastname: Crall
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Molly
authors.initials: M
authors.lastname: Valle
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kush
authors.initials: K
authors.lastname: Kapur
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kira A
authors.initials: KA
authors.lastname: Dies
authors.affiliation: Harvard Medical School, Boston, Massachusetts.
authors.forename: Marilyn G
authors.initials: MG
authors.lastname: Liang
authors.affiliation: Harvard Medical School, Boston, Massachusetts.|Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
authors.affiliation: Harvard Medical School, Boston, Massachusetts. Jennifer.huang@childrens.harvard.edu.
authors.forename: Jennifer T
authors.initials: JT
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D018322:Angiofibroma / Q000175:diagnosis* / Q000209:etiology / Q000451:nursing / Q000523:psychology; D001900:Boston; D017028:Caregivers / Q000523:psychology*; D002648:Child; D003430:Cross-Sectional Studies; D019468:Disease Management; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000451:nursing / Q000523:psychology; D005260:Female; D006297:Health Services Accessibility; D006776:Hospitals, Pediatric; D006801:Humans; D008297:Male; D015999:Multivariate Analysis; D011788:Quality of Life; D018434:Sickness Impact Profile; D018709:Statistics, Nonparametric; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis