{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:34:50Z","timestamp":1791837290199,"version":"4.3.4"},"reference-count":38,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disease. Around 90% of individuals with TSC present some neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders, TAND). To date, none of the studies have focused on the TAND profile of the adult population. Thus, the aim of the study was to describe their potential specific needs and difficulties, including differences in cohorts with or without epilepsy and\/or intellectual disability. Method: The Polish version of the TAND Checklist was used for assessment of individuals with TSC. Participants had to meet the criteria for diagnosis of TSC. One hundred adult participants (forty-eight males\/ fifty-two females; mean age 32.33 \u00b1 11.29) were enrolled in the study. Epilepsy was present in 71% of patients; intellectual disability occurred in a total of 37%. Results: Only 11% of individuals received complete TAND features examination in the past. Moreover, 91.5 of the subjects had four and more TAND symptoms. Intellectually disabled patients and those with epilepsy had more neuropsychiatric problems than epilepsy-free subjects. Conclusions: Findings reveal that TANDs are common in adults with TSC and are underdiagnosed. Most individuals present several behavioural and cognitive problems. Among psychiatric disorders, the most common are ASD, depression, and anxiety disorder. TAND screening should be widely disseminated and applied in clinical practice for early identification, prevention, and rehabilitation of their difficulties. TAND is one of the most significant issues affecting the quality of life of TSC patients and their carers.<\/jats:p>","DOI":"10.3390\/jcm11216536","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T03:28:10Z","timestamp":1667532490000},"page":"6536","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Tuberous Sclerosis Complex Patients\u2019 Needs and Difficulties\u2014Results of TAND Questionnaire Analysis in Polish Adult Population"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8331-208X","authenticated-orcid":false,"given":"Anna","family":"Marcinkowska","sequence":"first","affiliation":[{"name":"Applied Cognitive Neuroscience Lab, Department of Human Physiology, Medical University of Gdansk, Tuwima Str. 15, 80-210 Gdansk, Poland"},{"name":"2nd Department of Radiology, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3350-6326","authenticated-orcid":false,"given":"Sergiusz","family":"J\u00f3\u017awiak","sequence":"additional","affiliation":[{"name":"The Children\u2019s Memorial Health Institute, 04-736 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Tarasewicz","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Transplantology and Internal Diseases, Faculty of Medicine, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8210-8063","authenticated-orcid":false,"given":"Alicja","family":"D\u0119bska-\u015alizie\u0144","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Transplantology and Internal Diseases, Faculty of Medicine, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7042-4381","authenticated-orcid":false,"given":"Edyta","family":"Szurowska","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology, Medical University of Gdansk, 80-210 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1111\/j.1365-2788.2006.00828.x","article-title":"Psychopathology in tuberous sclerosis: An overview and findings in a population-based sample of adults with tuberous sclerosis","volume":"50","author":"Raznahan","year":"2006","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous Sclerosis Complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_3","doi-asserted-by":"crossref","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":"ref_4","unstructured":"Bade-White, P.A., Obrzut, J.E., and Randall, P.P. (2009). Handbook of Clinical Child Neuropsychology, Springer."},{"key":"ref_5","first-page":"387","article-title":"Neuropsychological attention deficits in tuberous sclerosis complex (TSC)","volume":"149","author":"Gardiner","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/s13023-019-1072-y","article-title":"A Step-Wise Approach for Establishing a Multidisciplinary Team for the Management of Tuberous Sclerosis Complex: A Delphi Consensus Report","volume":"14","author":"Auvin","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/epi.12722","article-title":"Transition into Adulthood: Tuberous Sclerosis Complex, Sturge-Weber Syndrome, and Rasmussen Encephalitis","volume":"55","author":"Thiele","year":"2014","journal-title":"Epilepsia"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1055\/s-0039-1693042","article-title":"Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study","volume":"50","author":"Hussong","year":"2019","journal-title":"Neuropediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/dmcn.14055","article-title":"Tuberous sclerosis-associated neuropsychiatric disorders: A paediatric cohort study","volume":"61","author":"Toldo","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01488-4","article-title":"The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1","volume":"15","author":"Cervi","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_11","first-page":"603","article-title":"Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype","volume":"11","author":"Belousova","year":"2020","journal-title":"Front. Neurol."},{"key":"ref_12","first-page":"1","article-title":"Natural Clusters of Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND): New Findings from the TOSCA TAND Research Project","volume":"12","author":"Belousova","year":"2020","journal-title":"J. Neurodev. Disord."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1136\/adc.2011.211995","article-title":"The Tuberous Sclerosis 2000 Study: Presentation, initial assessments and implications for diagnosis and management","volume":"96","author":"Yates","year":"2011","journal-title":"Arch. Dis. Child."},{"key":"ref_14","unstructured":"De Vries, P.J. (2010). Tuberous Sclerosis Complex, Wiley-VCH Verlag GmbH & Co. KGaA."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1212\/01.wnl.0000280579.04974.c0","article-title":"Cognitive Impairment in Tuberous Sclerosis Complex is a Multifactorial Condition","volume":"70","author":"Jansen","year":"2008","journal-title":"Neurology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1017\/S0033291702007092","article-title":"Learning Disability and Epilepsy in an Epidemiological Sample of Individuals with Tuberous Sclerosis Complex","volume":"33","author":"Joinson","year":"2003","journal-title":"Psychol. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1017\/S0033291715000264","article-title":"Intellectual Abilities in Tuberous Sclerosis Complex: Risk Factors and Correlates from the Tuberous Sclerosis 2000 Study","volume":"45","author":"Bolton","year":"2015","journal-title":"Psychol. Med."},{"key":"ref_18","unstructured":"De Vries, P.J., and Prather, P.A. (2022, June 16). The Tuberous Sclerosis Complex. Available online: https:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMc062928."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1177\/0883073809341272","article-title":"Attention-Deficit Hyperactivity Disorder (ADHD) and Tuberous Sclerosis Complex","volume":"24","author":"Moavero","year":"2009","journal-title":"J. Child Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","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":"Belousova","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/B978-0-444-52891-9.00038-5","article-title":"Tuberous Sclerosis","volume":"Volume 111","author":"Curatolo","year":"2013","journal-title":"Handbook of Clinical Neurology"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0920-1211(99)00082-0","article-title":"Mental and behavioural outcome of infantile epilepsy treated by vigabatrin in tuberous sclerosis patients","volume":"38","author":"Chiron","year":"2000","journal-title":"Epilepsy Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.seizure.2006.06.010","article-title":"Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex","volume":"15","author":"Zaroff","year":"2006","journal-title":"Seizure"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s00787-005-0443-1","article-title":"Consensus Clinical Guidelines for the Assessment of Cognitive and Behavioural Problems in Tuberous Sclerosis","volume":"14","author":"Humphrey","year":"2005","journal-title":"Eur. Child Adolesc. Psychiatry"},{"key":"ref_25","doi-asserted-by":"crossref","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":"ref_26","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.pediatrneurol.2021.07.010","article-title":"Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World","volume":"123","author":"Stuart","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"255","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":"ref_28","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/S1474-4422(15)00069-1","article-title":"Neurological and neuropsychiatric aspects of tuberous sclerosis complex","volume":"14","author":"Curatolo","year":"2015","journal-title":"Lancet Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1097\/YCO.0000000000000136","article-title":"Advances in the treatment of tuberous sclerosis complex","volume":"28","author":"LeClezio","year":"2015","journal-title":"Curr. Opin. Psychiatry"},{"key":"ref_30","unstructured":"Northrup, H., and Krueger, D.A. (2022, May 29). Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Available online: www.lovd.nl\/TSC1."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"59","DOI":"10.20966\/chn.2018.54.421","article-title":"TAND Checklist\u2014A new tool for assessment of neuropsychiatric disorders in tuberous sclerosis patients","volume":"27","author":"Maryniak","year":"2018","journal-title":"Child Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.pediatrneurol.2014.10.004","article-title":"Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist","volume":"52","author":"Whittemore","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"ref_33","first-page":"181","article-title":"Psychiatric Effects of Antiepileptic Drugs in Adults","volume":"16","author":"Dussaule","year":"2018","journal-title":"Geriatr. Psychol. Neuropsychiatr. Vieil."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.neurol.2020.04.012","article-title":"Long-Term Cognitive Outcomes in Patient with Epilepsy","volume":"176","author":"Forthoffer","year":"2020","journal-title":"Rev. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1093\/brain\/awy022","article-title":"Cognition and Dementia in Older Patients with Epilepsy","volume":"141","author":"Sen","year":"2018","journal-title":"Brain"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1097\/WCO.0000000000000793","article-title":"What are the epileptic encephalopathies?","volume":"33","author":"Trivisano","year":"2020","journal-title":"Curr. Opin. Neurol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.3389\/fneur.2021.697467","article-title":"Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry","volume":"12","author":"Nabbout","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"904","DOI":"10.3389\/fneur.2020.00904","article-title":"Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study","volume":"11","author":"Jansen","year":"2020","journal-title":"Front. Neurol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/21\/6536\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:16Z","timestamp":1760145016000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/21\/6536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,3]]},"references-count":38,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["jcm11216536"],"URL":"https:\/\/doi.org\/10.3390\/jcm11216536","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,3]]}}}