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Tuberous Sclerosis Complex: A Survey of Health Care Resource Use and Health Burden

      Abstract

      Purpose

      Tuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance.

      Methods

      This analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States.

      Results

      A total of 676 TSC patients or caregivers responded. Both pediatric and adult patient groups experienced skin lesions (77% and 44%), seizures (77% and 24%), and kidney complications (33% and 25%) as well as other manifestations. Patient groups averaged 22 visits to a physician, nine procedures/tests, two emergency room visits, and two hospital admissions in the past year. Standardized tests were administered for health-related quality of life and TSC patients reported significantly worse mental health scores and better physical health scores compared to a normative sample of cancer patients.

      Conclusion

      Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.

      Keywords

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      References

        • Northrup H.
        • Krueger D.A.
        International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.
        Pediatr Neurol. 2013; 49: 243-254
        • Gomez M.R.
        Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria.
        Ann N Y Acad Sci. 1991; 615: 1-7
        • Thiele E.A.
        Managing epilepsy in tuberous sclerosis complex.
        J Child Neurol. 2004; 19: 680-686
        • Wong I.Y.
        • Shortliffe L.D.
        The management of renal angiomyolipomas in a patient with tuberous sclerosis.
        Nat Clin Pract Urol. 2009; 6: 168-172
        • Prather P.
        • de Vries P.J.
        Behavioral and cognitive aspects of tuberous sclerosis complex.
        J Child Neurol. 2004; 19: 666-674
        • Kopp C.M.
        • Muzykewicz D.A.
        • Staley B.A.
        • Thiele E.A.
        • Pulsifer M.B.
        Behavior problems in children with tuberous sclerosis complex and parental stress.
        Epilepsy Behav. 2008; 13: 505-510
        • Hunt A.
        • Stores G.
        Sleep disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study.
        Dev Med Child Neurol. 1994; 36: 108-115
        • Siroky B.J.
        • Yin H.
        • Bissler J.J.
        Clinical and molecular insights into tuberous sclerosis complex renal disease.
        Pediatr Nephrol. 2011; 26: 839-852
        • O'Callaghan F.
        • Shiell A.
        • Osborne J.
        • Martyn C.
        Prevalence of tuberous sclerosis estimated by capture-recapture analysis.
        Lancet. 1998; 352: 318-319
        • Sampson J.
        • Scahill S.
        • Stephenson J.
        • Mann L.
        • Connor J.
        Genetic aspects of tuberous sclerosis in the west of Scotland.
        J Med Genet. 1989; 26: 28-31
      1. Tuberous Sclerosis Alliance. What is TSC? Silver Spring, MD. 2015; http://www.tsalliance.org/pages.aspx?content=2 February 11, 2015.

        • Staley B.A.
        • Vail E.A.
        • Thiele E.A.
        Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs.
        Pediatrics. 2011; 127: e117-e125
        • Curatolo P.
        • Maria B.L.
        Tuberous sclerosis.
        Handb Clin Neurol. 2013; 111: 323-331
        • Ware Jr., J.
        • Kosinski M.
        • Keller S.D.
        A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity.
        Med Care. 1996; 34: 220-233
        • Duncan N.
        • Shapiro A.
        • Ye X.
        • Epstein J.
        • Luo M.P.
        Treatment patterns, health-related quality of life and adherence to prophylaxis among haemophilia A patients in the United States.
        Haemophilia. 2012; 18: 760-765
        • Kosinski M.
        • Zhao S.Z.
        • Dedhiya S.
        • Osterhaus J.T.
        • Ware Jr., J.E.
        Determining minimally important changes in generic and disease-specific health-related quality of life questionnaires in clinical trials of rheumatoid arthritis.
        Arthritis Rheum. 2000; 43: 1478-1487
        • Loza E.
        • Abasolo L.
        • Jover J.A.
        • Carmona L.
        • Group E.S.
        Burden of disease across chronic diseases: a health survey that measured prevalence, function, and quality of life.
        J Rheumatol. 2008; 35: 159-165
        • Lumry W.R.
        • Castaldo A.J.
        • Vernon M.K.
        • Blaustein M.B.
        • Wilson D.A.
        • Horn P.T.
        The humanistic burden of hereditary angioedema: Impact on health-related quality of life, productivity, and depression.
        Allergy Asthma Proc. 2010; 31: 407-414
        • Reynolds W.M.
        • Kobak K.A.
        Reliability and validity of the Hamilton Depression Inventory: A paper-and-pencil version of the Hamilton Depression Rating Scale Clinical Interview.
        Psych Assess. 1995; 7: 472-483
        • de Vries P.J.
        • Hunt A.
        • Bolton P.F.
        The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families.
        Eur Child Adolesc Psychiatry. 2007; 16: 16-24
        • Hallett L.
        • Foster T.
        • Liu Z.
        • Blieden M.
        • Valentim J.
        Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review.
        Curr Med Res Opin. 2011; 27: 1571-1583
        • Lennert B.
        • Farrelly E.
        • Sacco P.
        • Pira G.
        • Frost M.
        Resource utilization in children with tuberous sclerosis complex and associated seizures: a retrospective chart review study.
        J Child Neurol. 2013; 28: 461-469
        • Roth J.
        • Olasunkanmi A.
        • MacAllister W.S.
        • et al.
        Quality of life following epilepsy surgery for children with tuberous sclerosis complex.
        Epilepsy Behav. 2011; 20: 561-565
        • Skalicky A.M.
        • Rentz A.M.
        • Liu Z.
        • et al.
        The burden of subependymal giant cell astrocytomas associated with tuberous sclerosis complex: results of a patient and caregiver survey.
        J Child Neurol. 2014; (Mar24 [Epub ahead of print])
        • Zaroff C.M.
        • Barr W.B.
        • Carlson C.
        • et al.
        Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex.
        Seizure. 2006; 15: 558-562
        • Krueger D.A.
        • Northrup H.
        International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
        Pediatr Neurol. 2013; 49: 255-265
        • Park M.J.
        • Adams S.H.
        • Irwin Jr., C.E.
        Health care services and the transition to young adulthood: challenges and opportunities.
        Acad Pediatr. 2011; 11: 115-122
        • Ingerski L.M.
        • Modi A.C.
        • Hood K.K.
        • et al.
        Health-related quality of life across pediatric chronic conditions.
        J Pediatr. 2010; 156: 639-644
        • Food and Drug Administration
        Guidance for industry on patient-reported outcome measures: use in medical product development to support labeling claims.
        Federal Register. 2009; 74: 65132-65133
        • Schor E.L.
        The future pediatrician: promoting children's health and development.
        J Pediatr. 2007; 151: S11-S16