{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T08:28:12Z","timestamp":1771921692092,"version":"3.50.1"},"reference-count":38,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Psychiatry"],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Tuberous sclerosis complex (TSC) is a rare genetic disease involving major neurological and neuropsychiatric symptoms that can impact quality of life. This study aimed to examine the quality of life and disease burden of a pediatric TSC cohort and compare them with those of a population of individuals with idiopathic autism spectrum disorder (ASD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Caregivers completed the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist and the Pediatric Quality of Life Inventory\u2122 (PedsQL) Report. To examine quality of life, caregivers also completed the TSC Quality of Life (TSCQoL) questionnaire, which was created specifically for this study to investigate the emotional, economic, and time-related impact of TSC. We recruited 66 individuals with TSC (average age, 9.8 \u00b1 4.5 years) and 63 individuals with idiopathic ASD (8.4 \u00b1 4.4 years).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We found a reduction in quality of life and a significant economic investment in 50% and 55% of TSC patients, respectively. These aspects were significantly more prevalent in individuals with cognitive impairment, ASD, sleep disorders, and epilepsy. Individuals with idiopathic ASD exhibited worse quality of life in the social domain (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.004), while the syndromic ASD group demonstrated worse overall quality of life (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.041) and experienced a greater loss of school days (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.039).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Despite its lack of validation, the TSCQoL scale was established as an exploratory tool that consistently highlighted, along with the PedsQL, clinical factors that most impact quality of life. Quality of life was low in the TSC population, and this was strongly correlated with neuropsychiatric manifestations and epilepsy. Through comparison with idiopathic ASD, we observed a greater impact of the syndromic condition on disease burden.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fpsyt.2025.1730160","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T06:30:27Z","timestamp":1768372227000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Quality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder: an investigation conducted through questionnaires and clinical data collection in the pediatric population"],"prefix":"10.3389","volume":"16","author":[{"given":"Giorgia","family":"Sforza","sequence":"first","affiliation":[{"name":"Developmental Neurology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Voci","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Tonietti","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Racioppi","sequence":"additional","affiliation":[{"name":"Residency School of Pediatrics, Tor Vergata University of Rome","place":["Rome, Italy"]},{"name":"Academy of Pediatrics, Bambino Ges\u00f9 Children\u2019s Hospital","place":["IRCCS, Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Proietti Checchi","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Valeriani","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)","place":["Rome, Italy"]},{"name":"Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome","place":["Rome, Italy"]},{"name":"Translational Pain Neuroscience and Precision Medicine, Center for Neuroplasticity and Pain (CNAP), Department of Health Science and Technology, School of Medicine, Aalborg University","place":["Aalborg, Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Mazzone","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariagrazia","family":"Cicala","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University of Rome","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Emberti Gialloreti","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Tor Vergata University of Rome","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romina","family":"Moavero","sequence":"additional","affiliation":[{"name":"Developmental Neurology Unit, Bambino Ges\u00f9 Children\u2019s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)","place":["Rome, Italy"]},{"name":"Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome","place":["Rome, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209090","article-title":"Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease","volume":"24","author":"Astrinidis","year":"2005","journal-title":"Oncogene"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14415","article-title":"An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997\u20132010)","volume":"174","author":"Hong C","year":"2016","journal-title":"Br J Dermatol"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00304-7","article-title":"Neuropathology of tuberous sclerosis","volume":"23","author":"Mizuguchi","year":"2001","journal-title":"Brain Dev"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.002","article-title":"Tuberous sclerosis complex surveillance and management: recommendations of the 2012 international tuberous sclerosis complex consensus conference","volume":"49","author":"Krueger","year":"2013","journal-title":"Pediatr Neurol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1186\/s13023-018-0901-8","article-title":"TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study","volume":"13","author":"de Vries","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31637","article-title":"A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)","volume":"178","author":"de Vries","year":"2018","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00435734","article-title":"Study protocol for the World Health Organization project to develop a Quality of Life assessment instrument (WHOQOL)","volume":"2","year":"1993","journal-title":"Qual Life Res Int J Qual Life Asp Treat Care Rehabil"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815575364","article-title":"Caring for children with tuberous sclerosis complex: what is the physical and mental health impact on caregivers","volume":"30","author":"Rentz","year":"2015","journal-title":"J Child Neurol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s13023-019-1258-3","article-title":"A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)","volume":"15","author":"Z\u00f6llner","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2008.05.010","article-title":"Behavior problems in children with tuberous sclerosis complex and parental stress","volume":"13","author":"Kopp","year":"2008","journal-title":"Epilepsy Behav"},{"key":"B12","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s41669-023-00387-1","article-title":"The burden of caring for individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A descriptive UK survey","volume":"7","author":"Skrobanski","year":"2023","journal-title":"PharmacoEconomics - Open"},{"key":"B13","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1186\/s13023-021-01899-x","article-title":"Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study","volume":"16","author":"Grau","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"B14","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/s42466-021-00130-3","article-title":"Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany","volume":"3","author":"Z\u00f6llner","year":"2021","journal-title":"Neurol Res Pract"},{"key":"B15","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations","volume":"123","author":"Northrup","year":"2021","journal-title":"Pediatr Neurol"},{"key":"B16","volume-title":"Diagnostic and statistical manual of mental disorders: DSM-5","year":"2013"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1710\/162.1771","article-title":"La valutazione dei problemi emotivo comportamentali in un campione italiano di bambini in et\u00e0 prescolare attraverso la Child Behavior Checklist e il Caregiver Teacher Report Form","volume":"5","author":"Frigerio","year":"2006","journal-title":"Infanzia E Adolesc"},{"key":"B18","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1186\/s12872-022-02611-y","article-title":"Health-related quality of life in Italian children and adolescents with congenital heart diseases","volume":"22","author":"Amodeo","year":"2022","journal-title":"BMC Cardiovasc Disord"},{"key":"B19","volume-title":"Adaptive Behavior Assessment System \u2013 Second Edition (ABAS-II): Adattamento Italiano","author":"Ferri","year":"2014"},{"key":"B20","article-title":"Uno studio di validazione del CBCL\/6\u201318 e del TRF\/6\u201318 nella tarda infanzia","author":"d\u2019Orlando","year":"2010","journal-title":"G Ital Psicol"},{"key":"B21","unstructured":"Italian TAND Checklist"},{"key":"B22","volume-title":"Empirically Based Assessment of Child and Adolescent Psychopathology: Practical Applications","author":"Achenbach","year":"1996"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-014-2229-0","article-title":"Evidence for specificity of motor impairments in catching and balance in children with autism","volume":"45","author":"Ament","year":"2015","journal-title":"J Autism Dev Disord"},{"key":"B24","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.pediatrneurol.2014.10.006","article-title":"Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist","volume":"52","author":"Leclezio","year":"2015","journal-title":"Pediatr Neurol"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-200108000-00006","article-title":"PedsQL\u2122 4.0: reliability and validity of the pediatric quality of life inventory\u2122 Version 4.0 generic core scales in healthy and patient populations","volume":"39","author":"Varni","year":"2001","journal-title":"Med Care"},{"key":"B26","doi-asserted-by":"crossref","first-page":"59","DOI":"10.20966\/chn.2018.54.421","article-title":"TAND Checklist \u2013 a new tool for assessment of neuropsychiatric disorders in tuberous sclerosis patients","volume":"27","author":"Si\u0142uszyk","year":"2018","journal-title":"Child Neurol"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4733.2008.00487.x","article-title":"The linkage between pediatric quality of life and health conditions: establishing clinically meaningful cutoff scores for the pedsQL","volume":"12","author":"Huang","year":"2009","journal-title":"Value Health"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.09.006","article-title":"Quality of life in patients with Tuberous Sclerosis Complex (TSC)","volume":"23","author":"Amin","year":"2019","journal-title":"Eur J Paediatr Neurol"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2018.11.021","article-title":"Health utilities and quality of life in individuals with tuberous sclerosis complex (TSC) who experience epileptic seizures: A web-based survey","volume":"92","author":"Tritton","year":"2019","journal-title":"Epilepsy Behav"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12365","article-title":"Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex","volume":"4","author":"Vergeer","year":"2019","journal-title":"Epilepsia Open"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.11.013","article-title":"Tuberous sclerosis complex: A survey of health care resource use and health burden","volume":"52","author":"Rentz","year":"2015","journal-title":"Pediatr Neurol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1186\/s13023-023-02677-7","article-title":"Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey","volume":"18","author":"Skrobanski","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2018-316394","article-title":"Quality of life of children with tuberous sclerosis complex","volume":"104","author":"Fong","year":"2019","journal-title":"Arch Dis Child"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1111\/cns.13473","article-title":"Quality of life in children with tuberous sclerosis complex: A pediatric cohort study","volume":"27","author":"Ding","year":"2021","journal-title":"CNS Neurosci Ther"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.10.003","article-title":"Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany","volume":"35","author":"Willems","year":"2021","journal-title":"Eur J Paediatr Neurol"},{"key":"B36","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s42466-024-00323-6","article-title":"A multicenter, matched case\u2013control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany","volume":"6","author":"Lappe","year":"2024","journal-title":"Neurol Res Pract"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.630378","article-title":"TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex","volume":"12","author":"Kingswood","year":"2021","journal-title":"Front Neurol"},{"key":"B38","unstructured":"ISTAT press release\n          \n          2024"}],"container-title":["Frontiers in Psychiatry"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpsyt.2025.1730160\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T06:53:42Z","timestamp":1771916022000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fpsyt.2025.1730160\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,14]]},"references-count":38,"alternative-id":["10.3389\/fpsyt.2025.1730160"],"URL":"https:\/\/doi.org\/10.3389\/fpsyt.2025.1730160","relation":{},"ISSN":["1664-0640"],"issn-type":[{"value":"1664-0640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,14]]},"article-number":"1730160"}}