{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:35:05Z","timestamp":1791837305567,"version":"4.3.4"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T00:00:00Z","timestamp":1749772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"King Baudouin Foundation Fund Dr. & Mrs. Charles Tournay\u2011Dubisson","award":["2019\u2011J1120010\u2011213544"],"award-info":[{"award-number":["2019\u2011J1120010\u2011213544"]}]},{"DOI":"10.13039\/501100000311","name":"Tuberous Sclerosis Association","doi-asserted-by":"publisher","award":["2019-P03"],"award-info":[{"award-number":["2019-P03"]}],"id":[{"id":"10.13039\/501100000311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Research Foundation Flanders","doi-asserted-by":"crossref","award":["FWO 1805321N"],"award-info":[{"award-number":["FWO 1805321N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["HT94252410790"],"award-info":[{"award-number":["HT94252410790"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["HT94252410791"],"award-info":[{"award-number":["HT94252410791"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Tuberous Sclerosis Complex (TSC) is a rare multi-system genetic disorder characterised by benign growths in multiple body systems. TSC-Associated Neuropsychiatric Disorders (TAND) are very common in individuals with TSC, but families often struggle to access appropriate clinical care. To address this gap, the new TAND-SQ Checklist allows individuals with TSC or their caregivers to self-report and quantify characteristics of TAND. The 33 items make up seven natural TAND clusters and an eighth cluster reflecting psychosocial difficulties in individuals with TSC and their caregivers. Respondents rate items as having <jats:italic>ever<\/jats:italic> been present to generate cluster scores (CS), and rate item <jats:italic>severity<\/jats:italic> (over the last month) on a 10-point scale to generate cluster severity scores (CSS<jats:sub>mean<\/jats:sub>) and a total TAND severity score (TTSS<jats:sub>mean<\/jats:sub>). The purpose of this study was to determine the reliability and validity of the CS, CSS<jats:sub>mean<\/jats:sub> and TTSS<jats:sub>mean<\/jats:sub> of the TAND-SQ.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>A descriptive group design was used. Two convenience samples with existing clinical data were recruited from the TSC Alliance Natural History Database (NHD) in the USA (n\u2009=\u200969), and from the Developmental Synaptopathies Consortium Rare Diseases Clinical Research Network (RDCRN) study based at Boston and Cincinnati Children's Hospitals (n\u2009=\u200923), totalling 92 participants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Analyses showed good internal consistency for CS (Cronbach\u2019s alphas: 0.67\u20130.89) and CSS<jats:sub>mean<\/jats:sub> (0.76\u20130.95) with the exception of the eat\/sleep cluster. Within the TAND-SQ, most CS and all CSS<jats:sub>mean<\/jats:sub> were significantly correlated to corresponding self-reported clinical diagnoses, and the TTSS<jats:sub>mean<\/jats:sub> was significantly correlated to a global self-rating of TAND burden (\u03c1\u2009=\u20090.75; <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001). Significant correlations were observed between the CS and CSS<jats:sub>mean<\/jats:sub> and a range of relevant standardised behavioural measures in the RDCRN cohort. The TTSS<jats:sub>mean<\/jats:sub> was significantly correlated with global measures of adaptive behaviour (\u03c1\u2009=\u2009\u2212\u20090.75; <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) and emotional\/behavioural difficulties (\u03c1\u2009=\u20090.71; <jats:italic>p<\/jats:italic>\u2009=\u2009.001). All CS were significantly correlated with corresponding diagnoses of autism, ADHD, anxiety disorder, depressive disorder, scholastic difficulties, and neuropsychological difficulties where reported in the RDCRN and NHD cohorts.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Findings provide support for the reliability and validity of the CS, CSS<jats:sub>mean<\/jats:sub> and TTSS<jats:sub>mean<\/jats:sub> of the TAND-SQ and support their use in clinical decision-making for TAND management and in further research.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-025-03642-2","type":"journal-article","created":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T08:58:54Z","timestamp":1749805134000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7008-472X","authenticated-orcid":false,"given":"Nola","family":"Chambers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7644-5231","authenticated-orcid":false,"given":"Tosca-Marie","family":"Heunis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2762-9944","authenticated-orcid":false,"given":"Sugnet","family":"Gardner-Lubbe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7579-375X","authenticated-orcid":false,"given":"Jamie K.","family":"Capal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0701-3392","authenticated-orcid":false,"given":"Stacey","family":"Bissell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3929-6107","authenticated-orcid":false,"given":"Anna W.","family":"Byars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1497-4709","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Cukier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5796-6015","authenticated-orcid":false,"given":"Peter E.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Flinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6903-743X","authenticated-orcid":false,"given":"Tanjala T.","family":"Gipson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8794-9857","authenticated-orcid":false,"given":"J. Chris","family":"Kingswood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9472-7539","authenticated-orcid":false,"given":"Aubrey J.","family":"Kumm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Schoeters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoba","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megumi","family":"Takei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5642-7711","authenticated-orcid":false,"given":"Stephanie","family":"Vanclooster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8149-8645","authenticated-orcid":false,"given":"Agnies M.","family":"van Eeghen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5338-2765","authenticated-orcid":false,"given":"Robert","family":"Waltereit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7250-7391","authenticated-orcid":false,"given":"Darcy A.","family":"Krueger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7044-2953","authenticated-orcid":false,"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7126-575X","authenticated-orcid":false,"given":"Liesbeth","family":"De Waele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3835-2824","authenticated-orcid":false,"given":"Anna C.","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8915-1571","authenticated-orcid":false,"given":"Petrus J.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"issue":"4","key":"3642_CR1","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","volume":"49","author":"DA Krueger","year":"2013","unstructured":"Krueger DA, Northrup H, Roberds S, Smith K, Sampson J, Korf B, et al. Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49(4):255\u201365.","journal-title":"Pediatr Neurol"},{"issue":"3","key":"3642_CR2","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1002\/ajmg.c.31637","volume":"178","author":"PJ de Vries","year":"2018","unstructured":"de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018;178(3):309\u201320.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"1","key":"3642_CR3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.pediatrneurol.2014.10.004","volume":"52","author":"PJ de Vries","year":"2015","unstructured":"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\u201335.","journal-title":"Pediatr Neurol"},{"key":"3642_CR4","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s11689-021-09408-8","volume":"13","author":"S Alperin","year":"2021","unstructured":"Alperin S, Krueger DA, Franz DN, Agricola KD, Stires G, Horn PS, et al. Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). J Neurodev Disord. 2021;13:60.","journal-title":"J Neurodev Disord"},{"issue":"7","key":"3642_CR5","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","volume":"14","author":"P Curatolo","year":"2015","unstructured":"Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733\u201345.","journal-title":"Lancet Neurol"},{"issue":"2","key":"3642_CR6","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1108\/AIA-12-2015-0025","volume":"2","author":"L Leclezio","year":"2016","unstructured":"Leclezio L, de Vries PJ. Towards an improved understanding of TSC-associated neuropsychiatric disorders (TAND). Adv Autism. 2016;2(2):76\u201383.","journal-title":"Adv Autism"},{"issue":"2","key":"3642_CR7","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1097\/YCO.0000000000000136","volume":"28","author":"L Leclezio","year":"2015","unstructured":"Leclezio L, De Vries PJ. Advances in the treatment of tuberous sclerosis complex. Curr Opin Psychiatry. 2015;28(2):113\u201320.","journal-title":"Curr Opin Psychiatry"},{"key":"3642_CR8","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13023-019-1258-3","volume":"15","author":"JP Z\u00f6llner","year":"2020","unstructured":"Z\u00f6llner JP, Franz DN, Hertzberg C, Nabbout R, Rosenow F, Sauter M, et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare Dis. 2020;15:23.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"3642_CR9","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.pediatrneurol.2014.10.006","volume":"52","author":"L Leclezio","year":"2015","unstructured":"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\u201324.","journal-title":"Pediatr Neurol"},{"key":"3642_CR10","unstructured":"https:\/\/tandconsortium.org\/checklists\/. The TAND checklist. Accessed20 Sept 2024."},{"key":"3642_CR11","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s11689-022-09423-3","volume":"14","author":"S Vanclooster","year":"2022","unstructured":"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)\u2014a comprehensive scoping review. J Neurodev Disord. 2022;14:13.","journal-title":"J Neurodev Disord"},{"key":"3642_CR12","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/s11689-020-09327-0","volume":"12","author":"PJ de Vries","year":"2020","unstructured":"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;12:24.","journal-title":"J Neurodev Disord"},{"key":"3642_CR13","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1186\/s13023-021-02076-w","volume":"16","author":"PJ de Vries","year":"2021","unstructured":"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;16:447.","journal-title":"Orphanet J Rare Dis"},{"key":"3642_CR14","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.pediatrneurol.2017.12.006","volume":"81","author":"L Leclezio","year":"2018","unstructured":"Leclezio L, Gardner-Lubbe S, de Vries PJ. Is it feasible to identify natural clusters of TSC-associated neuropsychiatric disorders (TAND)? Pediatr Neurol. 2018;81:38\u201344.","journal-title":"Pediatr Neurol"},{"key":"3642_CR15","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s11689-023-09500-1","volume":"15","author":"PJ de Vries","year":"2023","unstructured":"de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, et al. International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). J Neurodev Disord. 2023;15:32.","journal-title":"J Neurodev Disord"},{"key":"3642_CR16","doi-asserted-by":"publisher","first-page":"834628","DOI":"10.3389\/fpsyt.2022.834628","volume":"13","author":"TM Heunis","year":"2022","unstructured":"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.","journal-title":"Front Psychiatry"},{"key":"3642_CR17","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.pediatrneurol.2023.07.001","volume":"147","author":"TM Heunis","year":"2023","unstructured":"Heunis TM, Chambers N, Vanclooster S, Bissell S, Byars AW, Capal JK, et al. Development and feasibility of the self-report, quantified TSC-associated neuropsychiatric disorders checklist (TAND-SQ). Pediatr Neurol. 2023;147:101\u201323.","journal-title":"Pediatr Neurol"},{"key":"3642_CR18","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1016\/j.ejpn.2019.09.006","volume":"23","author":"S Amin","year":"2019","unstructured":"Amin S, Mallick AA, Lux A, O\u2019Callaghan F. Quality of life in patients with tuberous sclerosis complex (TSC). Eur J Paediatr Neurol. 2019;23:801\u20137.","journal-title":"Eur J Paediatr Neurol"},{"issue":"10","key":"3642_CR19","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1080\/13696998.2018.1487447","volume":"21","author":"AM Skalicky","year":"2018","unstructured":"Skalicky AM, Rentz AM, Liu Z, Said Q, Nakagawa JA, Frost MD, et al. Economic burden, work, and school productivity in individuals with tuberous sclerosis and their families. J Med Econ. 2018;21(10):953\u20139.","journal-title":"J Med Econ"},{"issue":"10","key":"3642_CR20","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1136\/archdischild-2018-316394","volume":"104","author":"CY Fong","year":"2019","unstructured":"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\u20138.","journal-title":"Arch Dis Child"},{"key":"3642_CR21","doi-asserted-by":"publisher","first-page":"904","DOI":"10.3389\/fneur.2020.00904","volume":"11","author":"AC Jansen","year":"2020","unstructured":"Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d\u2019Aug\u00e8res G, Carter T, et al. Burden of illness and quality of life in tuberous sclerosis complex: findings from the TOSCA study. Front Neurol. 2020;11:904.","journal-title":"Front Neurol"},{"key":"3642_CR22","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s41669-023-00387-1","volume":"7","author":"H Skrobanski","year":"2023","unstructured":"Skrobanski H, Vyas K, Bowditch S, Hubig L, Dziadulewicz E, Fish L, et al. The burden of caring for individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: a descriptive UK survey. Pharmacoecon Open. 2023;7:299\u2013312.","journal-title":"Pharmacoecon Open"},{"issue":"3","key":"3642_CR23","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.yebeh.2008.05.010","volume":"13","author":"CMC Kopp","year":"2008","unstructured":"Kopp CMC, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008;13(3):505\u201310.","journal-title":"Epilepsy Behav"},{"issue":"12","key":"3642_CR24","doi-asserted-by":"publisher","first-page":"1574","DOI":"10.1177\/0883073815575364","volume":"30","author":"AM Rentz","year":"2015","unstructured":"Rentz AM, Skalicky AM, Pashos CL, Liu Z, Magestro M, Pelletier CL, et al. Caring for children with tuberous sclerosis complex: What is the physical and mental health impact on caregivers? J Child Neurol. 2015;30(12):1574\u201381.","journal-title":"J Child Neurol"},{"issue":"5","key":"3642_CR25","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1055\/s-0039-1693042","volume":"50","author":"D Ebrahimi-Fakhari","year":"2019","unstructured":"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\u20139.","journal-title":"Neuropediatrics"},{"key":"3642_CR26","first-page":"235","volume-title":"Encyclopedia of evaluation","author":"M Scriven","year":"2005","unstructured":"Scriven M. THE logic and methodology of checklists. In: Mathison S, editor. Encyclopedia of evaluation. Thousand Oaks: Sage; 2005. p. 235\u20138."},{"issue":"2","key":"3642_CR27","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1111\/medu.12621","volume":"49","author":"JS Ilgen","year":"2015","unstructured":"Ilgen JS, Ma IWY, Hatala R, Cook DA. A systematic review of validity evidence for checklists versus global rating scales in simulation-based assessment. Med Educ. 2015;49(2):161\u201373.","journal-title":"Med Educ"},{"issue":"4","key":"3642_CR28","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1177\/1948550617693063","volume":"8","author":"JK Flake","year":"2017","unstructured":"Flake JK, Pek J, Hehman E. Construct validation in social and personality research: current practice and recommendations. Soc Psychol Personal Sci. 2017;8(4):370\u20138.","journal-title":"Soc Psychol Personal Sci"},{"key":"3642_CR29","unstructured":"7901: Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) [Internet]. [cited 2024 Mar 11]. Available from: https:\/\/dsc.rarediseasesnetwork.org\/research-study\/7901"},{"key":"3642_CR30","unstructured":"Lord C, Rutter M, DiLavore P, Risi S, Gotham K, Bishop S. Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) Manual. Torrence, CA: Western Psychological Services. 2012."},{"key":"3642_CR31","doi-asserted-by":"crossref","unstructured":"Bodfish J, Symons F, Parker D, Lewis M. Repetitive Behavior Scale - Revised. American Psychological Association (APA) PsycTests. 2000.","DOI":"10.1037\/t17338-000"},{"key":"3642_CR32","volume-title":"Short sensory profile","author":"W Dunn","year":"2014","unstructured":"Dunn W. Short Sensory Profile. Pearson Publishers: Pearson Publishers; 2014."},{"key":"3642_CR33","unstructured":"Constantino J. Social Responsiveness Scale, Second Edition (SRS-2). Western Psychological Services. 2012."},{"key":"3642_CR34","doi-asserted-by":"crossref","unstructured":"Achenbach. DSM guide for the Achenbach System of Empirically Based Assessment (ASEBA). Burlington, VT, University of Vermont: ASEBA. 2013.","DOI":"10.1007\/978-1-4419-1698-3_219"},{"key":"3642_CR35","unstructured":"Aman M, Singh N. Aberrant Behavior Checklist\u20142nd Edition (ABC-2). Slosson Educational Publications. 1994."},{"key":"3642_CR36","volume-title":"Stanford-Binet intelligence scales (SB5)","author":"G Roid","year":"2003","unstructured":"Roid G. Stanford-Binet Intelligence Scales (SB5). 5th ed. Itasca: Riverside; 2003.","edition":"5"},{"key":"3642_CR37","volume-title":"Wechsler intelligence scale for children processing speed index","author":"D Wechsler","year":"2014","unstructured":"Wechsler D. Wechsler Intelligence Scale for Children Processing Speed Index. 5th ed. Hoboken: Pearson Publishers; 2014.","edition":"5"},{"key":"3642_CR38","volume-title":"Peabody picture vocabulary test","author":"L Dunn","year":"2007","unstructured":"Dunn L, Dunn D. Peabody Picture Vocabulary Test. 4th ed. Hoboken: Pearson Publishers; 2007.","edition":"4"},{"key":"3642_CR39","volume-title":"Expressive vocabulary test","author":"K Williams","year":"2019","unstructured":"Williams K. Expressive Vocabulary Test. 3rd ed. Bloomington: Pearson Publishers; 2019.","edition":"3"},{"key":"3642_CR40","volume-title":"Beery-Buktenica developmental test of visual-motor integration","author":"K Beery","year":"2010","unstructured":"Beery K, Buktenica N, Beery N. Beery-Buktenica Developmental Test of Visual-Motor Integration. 6th ed. Hoboken: Pearson Publishers; 2010.","edition":"6"},{"key":"3642_CR41","volume-title":"Vineland adaptive behavior scales","author":"S Sparrow","year":"2016","unstructured":"Sparrow S, Cicchetti DV, Saulnier C. Vineland Adaptive Behavior Scales. 3rd ed. Hoboken: Pearson Publishers; 2016.","edition":"3"},{"key":"3642_CR42","doi-asserted-by":"publisher","first-page":"101474","DOI":"10.1016\/j.rasd.2019.101474","volume":"70","author":"T Frazier","year":"2020","unstructured":"Frazier T, Hyland A, Markowitz L, Speer L, Diekroger E. Psychometric evaluation of the revised Child and Family Quality of Life Questionnaire (CFQL-2). Res Autism Spectr Disord. 2020;70:101474.","journal-title":"Res Autism Spectr Disord"},{"issue":"4","key":"3642_CR43","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1016\/j.celrep.2017.07.008","volume":"20","author":"JO Lipton","year":"2017","unstructured":"Lipton JO, Boyle LM, Yuan ED, Hochstrasser KJ, Chifamba FF, Nathan A, et al. Aberrant proteostasis of BMAL1 underlies circadian abnormalities in a paradigmatic mTOR-opathy. Cell Rep. 2017;20(4):868\u201380.","journal-title":"Cell Rep"},{"issue":"2","key":"3642_CR44","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.jsmc.2021.02.011","volume":"16","author":"T Wu","year":"2021","unstructured":"Wu T, Avidan AY, Engel J. Sleep and epilepsy, clinical spectrum and updated review. Sleep Med Clin. 2021;16(2):389\u2013408.","journal-title":"Sleep Med Clin"},{"issue":"1","key":"3642_CR45","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1186\/s12916-023-03012-4","volume":"21","author":"AR M\u00fcller","year":"2023","unstructured":"M\u00fcller AR, Luijten MAJ, Haverman L, de Ranitz-Greven WL, Janssens P, Rietman AB, et al. Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM. BMC Med. 2023;21(1):298.","journal-title":"BMC Med"},{"key":"3642_CR46","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","volume":"123","author":"H Northrup","year":"2021","unstructured":"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\u201366.","journal-title":"Pediatr Neurol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03642-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03642-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03642-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T19:24:41Z","timestamp":1757186681000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03642-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,13]]},"references-count":46,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3642"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03642-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,13]]},"assertion":[{"value":"27 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the Human Research Ethics Committee (HREC) at the University of Cape Town, South Africa (HREC reference number: 849\/2020), the site of the principal investigator, and at the Vrije Universiteit Brussel, Belgium (BUN: 1432022000037), the site of the co-principal investigator. It was also approved by the Ethical and Independent Review Services for the Natural History Database Study (protocol number 15039-08) in the United States which permitted use of deidentified clinical data for TSC research at the TSC Alliance, and by the BCH Institutional Review Board (IRB, IRB-P00041212). For BCH and CCH sites, BCH agreed to serve as the reviewing IRB for this study and CCH (IRB number 2022-0421) agreed to cede IRB review to the BCH IRB. All TSC Alliance participants, and BCH and CCH participants were asked to provide informed consent before participating in this study. As part of the TANDem project, all participating data collection sites signed a data transfer agreement which ensured secure sharing of pseudonymised data.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"JC receives grant funding from the NIH and the Department of Defense for projects related to TSC and sits on the Scientific Advisory Committee for Marinus Pharmaceuticals in relation to TSC studies. SB receives grant funding from the TSA UK and Baily Thomas Charitable Fund for projects related to TSC. PD receives partial salary support from the NIH for participation in studies related to TSC, as well as from Aucta Pharmaceuticals for a study of topical sirolimus for facial angiofibromas in TSC and Marinus Pharmaceuticals for a study of ganaxolone for TSC\u2011related epilepsy. CS receives salary support from the TSC Alliance, a non\u2011profit organization that reports revenue from individual donors and corporations including Aeovian, BridgeBio, Jazz, LivaNova, Longboard, Mallinckrodt, Marinus, Neurelis, Nobelpharma, Noema, UCB, and Upsher-Smith. AvE is on the scientific advisory board and received grant support from Jazz Pharmaceuticals. She is also a member of ERN ITHACA. DAK reports grants from the National Institutes of Health (NINDS) and Food and Drug Administration (FDA) during the conduct of the study as well as research grants from Jazz Pharmaceuticals and personal fees from Longboard Pharmaceuticals, and grants and non\u2011financial support from TSC Alliance outside the submitted work. MS reports grant support from Novartis, Biogen, Astellas, Aeovian, Bridgebio, and Aucta and has served on Scientific Advisory Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar Therapeutics, and Alkermes. ACJ was on the scientific advisory group of the TOSCA international disease registry sponsored by Novartis and Marinus Trust, and has provided consultancy to Jazz Pharmaceuticals and Aeovian. PJdV was a study steering committee member of three phase III trials in TSC sponsored by Novartis, was on the scientific advisory group of the TOSCA international disease registry sponsored by Novartis, and has provided consultancy to Jazz Pharmaceuticals. The remaining authors declared no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"304"}}