Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B, et al. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243–54.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021;123:50–66.
Google Scholar
Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733–45.
Google Scholar
De Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol. 2015;52(1):25–35.
Google Scholar
Vanclooster S, Bissell S, van Eeghen AM, Chambers N, De Waele L, Byars AW, et al. The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review. J Neurodev Disord. 2022;14(1):13.
Google Scholar
Vergeer M, de Ranitz-Greven WL, Neary MP, Ionescu-Ittu R, Emond B, Sheng Duh M, et al. Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex. Epilepsia Open. 2019;4(4):581–92.
Google Scholar
Van Heijst BFC, Geurts HM. Quality of life in autism across the lifespan: a meta-analysis. Autism. 2015;19(2):158–67.
Google Scholar
Vranceanu AM, Merker VL, Park ER, Plotkin SR. Quality of life among children and adolescents with neurofibromatosis 1: a systematic review of the literature. J Neuro-Oncol. 2015;122(2):219–28.
de Vries PJ, Franz DN, Curatolo P, Nabbout R, Neary M, Herbst F, et al. Measuring health-related quality of life in tuberous sclerosis complex – psychometric evaluation of three instruments in individuals with refractory epilepsy. Front Pharmacol. 2018;9:964.
Google Scholar
Both P, ten Holt L, Mous S, Patist J, Rietman A, Dieleman G, et al. Tuberous sclerosis complex: concerns and needs of patients and parents from the transitional period to adulthood. Epilepsy Behav. 2018;83:13–21.
Google Scholar
De Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project. J Neurodev Disord. 2020;12(1):24.
Google Scholar
Rietman AB, van Helden H, Both PH, Taal W, Legerstee JS, van Staa AL, et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet Part A. 2018;176(5):1150–60.
Google Scholar
Ju YJ, Kim TH, Han KT, Lee HJ, Kim W, Lee SA, et al. Association between unmet healthcare needs and health-related quality of life: a longitudinal study. Eur J Public Health. 2017;27(4):631–7.
Google Scholar
van Walsem MR, Howe EI, Ruud GA, Frich JC, Andelic N. Health-related quality of life and unmet healthcare needs in Huntington’s disease. Health Qual Life Outcomes. 2017;15(1):6.
Google Scholar
Capal JK, Bernardino-Cuesta B, Horn PS, Murray D, Byars AW, Bing NM, et al. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017;70(Pt A):245–52.
Google Scholar
Boylan LS, Flint LA, Labovitz DL, Jackson SC, Starner K, Devinsky O. Depression but not seizure frequency predicts quality of life in treatment-resistant epilepsy. Neurology. 2004;62(2):258–61.
Krueger DA, Wilfong AA, Mays M, Talley CM, Agricola K, Tudor C, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology. 2016;87(23):2408–15.
Google Scholar
Frew JW, Davidson M, Murrell DF. Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation. Orphanet J Rare Dis. 2017;12(1):189.
Google Scholar
Valderas JM, Kotzeva A, Espallargues M, Guyatt G, Ferrans CE, Halyard MY, et al. The impact of measuring patient-reported outcomes in clinical practice: a systematic review of the literature. Qual Life Res. 2008;17(2):179–93.
Google Scholar
Thompson JJ, Kelly KL, Ritenbaugh C, Hopkins AL, Sims CM, Coons SJ. Developing a patient-centered outcome measure for complementary and alternative medicine therapies II: refining content validity through cognitive interviews. BMC Complement Altern Med. 2011;11:136.
Google Scholar
Gibbons C, Porter I, Gonçalves-Bradley DC, Stoilov S, Ricci-Cabello I, Tsangaris E, et al. Routine provision of feedback from patient-reported outcome measurements to healthcare providers and patients in clinical practice. Cochrane Database Syst Rev. 2021;10:CD011589.
Mercieca-Bebber R, King MT, Calvert MJ, Stockler MR, Friedlander M. The importance of patient-reported outcomes in clinical trials and strategies for future optimization. Patient Relat Outcome Meas. 2018;9:353–67.
Google Scholar
Varni JW, Seid M, Kurtin PS. PedsQLTM 4.0: reliability and validity of the pediatric quality of life inventoryTM Version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800–12.
Google Scholar
Ware JE. SF-36 health survey update. Spine. 2000;25(24):3130–9.
Google Scholar
Bijkerk CJ, De Wit NJ, Muris JWM, Jones RH, Knottnerus JA, Hoes AW. Outcome measures in irritable bowel syndrome: comparison of psychometric and methodological characteristics. Am J Gastroenterol. 2003;98(1):122–7.
Google Scholar
Lee EH, Kwon O, Hahm KB, Kim WH, Kim J Il, Cheung DY, et al. Irritable bowel syndrome-specific health-related quality of life instrument: development and psychometric evaluation. Health Qual Life Outcomes. 2016;14(1):1–9.
Zöllner JP, Conradi N, Sauter M, Knuf M, Knake S, Kurlemann G, et al. Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany. Neurol Res Pract. 2021;3(1):35.
Google Scholar
Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kölker S, et al. Development and psychometric evaluation of the metabQoL 1.0: a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism. JIMD Rep. 2017;37:27–35.
Google Scholar
Srikrishna S, Robinson D, Cardozo L, Gonzalez J. Is there a discrepancy between patient and physician quality of life assessment? Neurourol Urodyn. 2009;28(3):179–82.
Google Scholar
Aman MG, Singh NN, Stewart AW, Field CJ. Psychometric characteristics of the aberrant behavior checklist. Am J Ment Defic. 1985;89(5):492–502.
Google Scholar
Hessl D, Sansone SM, Berry-Kravis E, Riley K, Widaman KF, Abbeduto L, et al. The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions. J Neurodev Disord. 2016;8(1):35.
Google Scholar
Cruz Rivera S, McMullan C, Jones L, Kyte D, Slade A, Calvert M. The impact of patient-reported outcome data from clinical trials: perspectives from international stakeholders. J Patient-Reported Outcomes. 2020;4(1):51.
De Vet HCW, Terwee CB, Mokkink LB, Knol DL. Measurement in medicine: a practical guide. Cambridge university press. 2011.
Terwee CB, Prinsen CAC, Chiarotto A, Westerman MJ, Patrick DL, Alonso J, et al. COSMIN methodology for evaluating the content validity of patient-reported outcome measures: a Delphi study. Qual Life Res. 2018;27(5):1159–70.
Google Scholar
Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics. 2010;41(5):199–208.
Google Scholar
Hasbani DM, Crino PB. Tuberous sclerosis complex. Handb Clin Neurol. 2018;148:813–22.
Kingswood C, Bolton P, Crawford P, Harland C, Johnson SR, Sampson JR, et al. The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: a retrospective cohort study in the Clinical Practice Research Datalink (CPRD). Eur J Paediatr Neurol. 2016;20(2):296–308.
Google Scholar
Leclezio L, Jansen A, Whittemore VH, De Vries PJ. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol. 2015;52(1):16–24.
Google Scholar
World Health Organization. Towards a common language for functioning, disability and health ICF. International Classification. 2002. Available from: https://www.who.int/publications/m.
Willis GB, Artino AR. What do our respondents think we’re asking? Using cognitive interviewing to improve medical education surveys. J Grad Med Educ. 2013;5(3):353–6.
Google Scholar
Collins D. Pretesting survey instruments: an overview of cognitive methods. Qual Life Res. 2003;12(3):229–38.
Google Scholar
Ediebah DE, Reijneveld JC, Taphoorn MJB, Coens C, Zikos E, Aaronson NK, et al. Impact of neurocognitive deficits on patient–proxy agreement regarding health-related quality of life in low-grade glioma patients. Qual Life Res. 2017;26(4):869–80.
Google Scholar
Achenbach TM, Rescorla LA. Manual for the ASEBA Adult Forms & Profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth & Families. 2003.
Achenbach TM, Ivanova MY, Rescorla LA. Empirically based assessment and taxonomy of psychopathology for ages 1½–90+ years: developmental, multi-informant, and multicultural findings. Compr Psychiatry. 2017;79:4–18.
Google Scholar
de Vries PJ, Leclezio L, Gardner-Lubbe S, Krueger D, Sahin M, Sparagana S, et al. Multivariate data analysis identifies natural clusters of tuberous sclerosis complex associated neuropsychiatric disorders (TAND). Orphanet J Rare Dis. 2021;16(1):447.
Google Scholar
Ware JE, Kosinski M, Gandek B, Aaronson NK, Apolone G, Bech P, et al. The factor structure of the SF-36 Health Survey in 10 countries: results from the IQOLA Project. J Clin Epidemiol. 1998;51(11):1159–65.
Google Scholar
Reed M, Reaume S, Ferro M. Psychometric properties of the Short Form-36 (SF-36) in parents of children with mental illness. Psych. 2022;4(2):247–57. https://doi.org/10.3390/psych4020021.
Google Scholar
Amin S, Mallick AA, Lux A, O’Callaghan F. Quality of life in patients with tuberous sclerosis complex (TSC). Eur J Paediatr Neurol. 2019;23(6):801–7.
Google Scholar
Hatano T, Ohno Y, Imai Y, Moritake J, Endo K, Tamari M, et al. Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex. Orphanet J Rare Dis. 2020;15(1):133.
Google Scholar
Achenbach TM. The Achenbach System of Empirically Based Assessment (ASEBA): Development, Findings, Theory, and Applications. Burlington, VT: University of Vermont Research Center for Children, Youth and Families. 2009.
Fong CY, Ng K, Kong AN, Ong LC, Rithauddin MA, Thong MK, et al. Quality of life of children with tuberous sclerosis complex. Arch Dis Child. 2019;104(10):972–8. https://doi.org/10.1136/archdischild-2018-316394.
Google Scholar
Ebrahimi-Fakhari D, Hussong J, Flotats-Bastardas M, Ebrahimi-Fakhari D, Zemlin M, von Gontard A, et al. Tuberous sclerosis complex associated neuropsychiatric disorders and parental stress: findings from a national, prospective TSC surveillance study. Neuropediatrics. 2019;50(5):294–9.
Google Scholar
Overwater IE, Rietman AB, Mous SE, Bindels-De Heus K, Rizopoulos D, Ten Hoopen LW, et al. A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. Neurology. 2019;93(2):e200–9.
Google Scholar
van Eeghen AM, Numis AI, Staley BA, Therrien SE, Thibert RL, Thiele EA. Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav. 2011;20(1):68–74.
Google Scholar
Rosseel Y. Lavaan: an R package for structural equation modeling. J Stat Softw. 2012;48:1–36.
Reeve BB, Hays RD, Bjorner JB, Cook KF, Crane PK, Teresi JA, et al. Psychometric evaluation and calibration of health-related quality of life item banks: plans for the Patient-Reported Outcomes Measurement Information System (PROMIS). Med Care. 2007;45(5 SUPPL. 1):S22-31.
Google Scholar
Schermelleh-Engel K, Moosbrugger H, Müller H. Evaluating the fit of structural equation models: tests of significance and descriptive goodness-of-fit measures. MPR-online. 2003;8(2):23–74.
Reise SP, Moore TM, Haviland MG. Bifactor models and rotations: exploring the extent to which multidimensional data yield univocal scale scores. J Pers Assess. 2010;92(6):544–59.
Google Scholar
Van Der Ark LA. Mokken scale analysis in R. J Stat Softw. 2007;20(11):1–19.
Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology. 2008;70(12):908–15.
Google Scholar
Van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet. 2012;20(5):510–5.
Google Scholar
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, et al. Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: a multicentre cohort study from Germany. Eur J Paediatr Neurol. 2021;35:111–22.
Google Scholar
Terwee CB, Bot SDM, de Boer MR, van der Windt DAWM, Knol DL, Dekker J, et al. Quality criteria were proposed for measurement properties of health status questionnaires. J Clin Epidemiol. 2007;60(1):34–42.
Google Scholar
LimeSurvey. [cited 17 May 2023]. Available from: https://www.limesurvey.org/
Mokkink LB, Terwee CB, Patrick DL, Alonso J, Stratford PW, Knol DL, et al. The COSMIN study reached international consensus on taxonomy, terminology, and definitions of measurement properties for health-related patient-reported outcomes. J Clin Epidemiol. 2010;63(7):737–45.
Google Scholar
Burks HB, Des Bordes JKA, Chadha R, Holmes HM, Rianon NJ. Quality of life assessment in older adults with dementia: a systematic review. Dement Geriatr Cogn Disord. 2021;50(2):103–10.
Google Scholar
Griffiths AW, Smith SJ, Martin A, Meads D, Kelley R, Surr CA. Exploring self-report and proxy-report quality-of-life measures for people living with dementia in care homes. Qual Life Res. 2020;29(2):463–72.
Google Scholar
Alcantara J, Ohm J, Alcantara J. Comparison of pediatric self reports and parent proxy reports utilizing PROMIS: Results from a chiropractic practice-based research network. Complement Ther Clin Pract. 2017;29:48–52.
Google Scholar
Janse AJ, Gemke RJBJ, Uiterwaal CSPM, Van Der Tweel I, Kimpen JLL, Sinnema G. Quality of life: patients and doctors don’t always agree: a meta-analysis. J Clin Epidemiol. 2004;57(7):653–61.
Google Scholar
Lunsky Y, Bramston P. A preliminary study of perceived stress in adults with intellectual disabilities according to self-report and informant ratings. J Intellect Dev Disabil. 2006;31(1):20–7.
Google Scholar
Cheah PS, Prabhakar S, Yellen D, Beauchamp RL, Zhang X, Kasamatsu S, et al. Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Sci Adv. 2021;7(2):eabb1703.
Google Scholar
Heunis TM, Bissell S, Byars AW, Capal JK, Chambers N, Cukier S, et al. Empowering families through technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem). Front Psychiatry. 2022;13:834628.
Google Scholar
Adang LA, Gavazzi F, Jawad AF, Cusack SV, Kopin K, Peer K, et al. Development of a neurologic severity scale for Aicardi Goutières Syndrome. Mol Genet Metab. 2020;130(2):153–60.
Google Scholar
Heaney A, Wilburn J, Rouse M, Langmead S, Blakeley JO, Huson S, et al. The development of the PlexiQoL: a patient-reported outcome measure for adults with neurofibromatosis type 1-associated plexiform neurofibromas. Mol Genet Genomic Med. 2020;8(12):e1530.
Google Scholar
Patterson MC, Lloyd-Price L, Guldberg C, Doll H, Burbridge C, Chladek M, et al. Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale. Orphanet J Rare Dis. 2021;16(1):79.
Google Scholar
Kolevzon A, Ventola P, Keary CJ, Heimer G, Neul JL, Adera M, et al. Development of an adapted clinical global impression scale for use in angelman syndrome. J Neurodev Disord. 2021;13(1):3.
Google Scholar
Fries JF, Witter J, Rose M, Cella D, Khanna D, Morgan-DeWitt E. Item response theory, computerized adaptive testing, and promis: assessment of physical function. J Rheumatol. 2014;41(1):153–8.
Google Scholar
Dutch TSC Foundation. [cited 2023 May 17]. Available from: http://www.tscfonds.nl