{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:17:38Z","timestamp":1791285458568,"version":"4.1.0"},"reference-count":40,"publisher":"Georg Thieme Verlag KG","issue":"07","license":[{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.<\/jats:p><jats:p>\n          Objective\u2003To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.<\/jats:p><jats:p>\n          Methods\u2003A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.<\/jats:p><jats:p>\n          Results\u2003History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes.<\/jats:p><jats:p>\n          Conclusion\u2003The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.<\/jats:p>","DOI":"10.1055\/s-0044-1787797","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T23:01:27Z","timestamp":1719961287000},"page":"1-8","source":"Crossref","is-referenced-by-count":1,"title":["Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil"],"prefix":"10.1055","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8674-4152","authenticated-orcid":false,"given":"La\u00eds Faria Masulk","family":"Cardozo","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Programa de P\u00f3s-Gradua\u00e7\u00e3o em Sa\u00fade da Crian\u00e7a e do Adolescente, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5892-8499","authenticated-orcid":false,"given":"Mariana Richartz","family":"Schwind","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Centro de Neurologia Pedri\u00e1trica, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3779-6976","authenticated-orcid":false,"given":"Ana Paula Almeida de","family":"Pereira","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Programa de P\u00f3s-Gradua\u00e7\u00e3o em Sa\u00fade da Crian\u00e7a e do Adolescente, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0831-0380","authenticated-orcid":false,"given":"Luiz Gustavo","family":"Dufner-Almeida","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Instituto de Bioci\u00eancias, Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Pesquisa em Genoma Humano e C\u00e9lulas-Tronco, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1043-8981","authenticated-orcid":false,"given":"Luciana Amaral","family":"Haddad","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo, Instituto de Bioci\u00eancias, Departamento de Gen\u00e9tica e Biologia Evolutiva, Centro de Pesquisa em Genoma Humano e C\u00e9lulas-Tronco, S\u00e3o Paulo SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7467-548X","authenticated-orcid":false,"given":"Isac","family":"Bruck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Centro de Neurologia Pedri\u00e1trica, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0678-3339","authenticated-orcid":false,"given":"S\u00e9rgio Antonio","family":"Antoniuk","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Centro de Neurologia Pedri\u00e1trica, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,7,2]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1590\/1678-4685-gmb-2015-0321","article-title":"TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review","volume":"40","author":"C Rosset","year":"2017","journal-title":"Genet Mol Biol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Update international Tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations","volume":"123","author":"H Northrup","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"603","key":"ref3","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":"P J de Vries","year":"2020","journal-title":"Front Neurol"},{"issue":"01","key":"ref4","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":"L Leclezio","year":"2015","journal-title":"Pediatr Neurol"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"9909","DOI":"10.1038\/s41598-020-66588-4","article-title":"Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex","volume":"10","author":"T Rosengren","year":"2020","journal-title":"Sci Rep"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.molcel.2012.06.009","article-title":"TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1","volume":"47","author":"C C Dibble","year":"2012","journal-title":"Mol Cell"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1007\/s00467-014-3027-9","article-title":"Tuberous sclerosis complex: the past and the future","volume":"30","author":"L de Waele","year":"2015","journal-title":"Pediatr Nephrol"},{"issue":"12","key":"ref8","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1002\/acn3.494","article-title":"Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders","volume":"4","author":"D A Krueger","year":"2017","journal-title":"Ann Clin Transl Neurol"},{"issue":"07","key":"ref9","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":"P Curatolo","year":"2015","journal-title":"Lancet Neurol"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1108\/AIA-12-2015-0025","article-title":"Towards an improved understanding of TSC-Associated Neuropsychiatric Disorders (TAND)","volume":"2","author":"L Leclezio","year":"2016","journal-title":"Adv Autism."},{"issue":"09","key":"ref11","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1177\/08830738040190090601","article-title":"Behavioral and cognitive aspects of tuberous sclerosis complex","volume":"19","author":"P Prather","year":"2004","journal-title":"J Child Neurol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ebcr.2015.12.001","article-title":"Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis","volume":"5","author":"R Moavero","year":"2016","journal-title":"Epilepsy Behav Case Rep"},{"issue":"03","key":"ref13","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/ajmg.a.32690","article-title":"Neuropsychological attention deficits in tuberous sclerosis complex (TSC)","volume":"149A","author":"P J de Vries","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.yebeh.2018.03.012","article-title":"Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood","volume":"83","author":"P Both","year":"2018","journal-title":"Epilepsy Behav"},{"key":"ref15","volume-title":"Neuropsychological assessment. 5th ed","author":"M D Lezak","year":"2012"},{"key":"ref16","volume-title":"WISC IV: Escala de Intelig\u00eancia Wechsler para Crian\u00e7as: Manual","author":"D Wechsler","year":"2013"},{"key":"ref17","volume-title":"WAIS III: Escala de Intelig\u00eancia Wechsler para Adultos: Manual","author":"D Wechsler","year":"2004"},{"key":"ref18","volume-title":"Manual teste n\u00e3o-verbal de intelig\u00eancia SON-R 21\/2-7 [a]","author":"P J Tellegen","year":"2015"},{"key":"ref19","volume-title":"Bateria Psicol\u00f3gica para Avalia\u00e7\u00e3o da Aten\u00e7\u00e3o (BPA)","author":"F JM Rueda","year":"2013"},{"key":"ref20","volume-title":"Figuras Complexas de Rey: teste de c\u00f3pia e de reprodu\u00e7\u00e3o de mem\u00f3ria de figuras geom\u00e9tricas complexas","author":"M S Oliveira","year":"2010"},{"key":"ref21","volume-title":"Manual do Teste Wisconsin de Classifica\u00e7\u00e3o de Cartas Adapta\u00e7\u00e3o e padroniza\u00e7\u00e3o brasileira. 1st ed","author":"R K Heaton","year":"2005"},{"key":"ref22","volume-title":"The Vineland Adaptive Behavior Scales","author":"S S Sparrow","year":"1984"},{"issue":"06","key":"ref23","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1590\/S0021-75572008000700004","article-title":"Childhood autism: translation and validation of the Childhood Autism Rating Scale for use in Brazil","volume":"84","author":"A Pereira","year":"2008","journal-title":"J Pediatr (Rio J)"},{"issue":"02","key":"ref24","doi-asserted-by":"crossref","first-page":"27","DOI":"10.18316\/sdh.v5i2.3088","article-title":"Perfil neuropsiqui\u00e1trico de crian\u00e7as adolescentes e jovens adultos com complexo de esclerose tuberosa","volume":"5","author":"M R Schwind","year":"2017","journal-title":"Sa\u00fade e Desenvolvimento Humano."},{"issue":"06","key":"ref25","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5201402","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex","volume":"13","author":"O Sancak","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2019.03.003","article-title":"Tuberous Sclerosis Complex Genotypes and Developmental Phenotype","volume":"96","author":"L S Farach","year":"2019","journal-title":"Pediatr Neurol"},{"issue":"12","key":"ref27","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1177\/0883073807307093","article-title":"Intrafamilial phenotypic variability in tuberous sclerosis complex","volume":"22","author":"D A Lyczkowski","year":"2007","journal-title":"J Child Neurol"},{"issue":"11","key":"ref28","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":"P F Bolton","year":"2015","journal-title":"Psychol Med"},{"issue":"02","key":"ref29","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/epi4.12111","article-title":"Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?","volume":"3","author":"C Tye","year":"2018","journal-title":"Epilepsia Open"},{"issue":"05","key":"ref30","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.seizure.2007.03.001","article-title":"Epilepsy surgery in tuberous sclerosis: the Dutch experience","volume":"16","author":"F E Jansen","year":"2007","journal-title":"Seizure"},{"issue":"01","key":"ref31","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/epi.12484","article-title":"Intellectual development before and after the onset of infantile spasms: a controlled prospective longitudinal study in tuberous sclerosis","volume":"55","author":"A Humphrey","year":"2014","journal-title":"Epilepsia"},{"issue":"01","key":"ref32","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.yebeh.2011.10.005","article-title":"Cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation","volume":"23","author":"A M van Eeghen","year":"2012","journal-title":"Epilepsy Behav"},{"issue":"01","key":"ref33","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s00415-016-8335-5","article-title":"Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex","volume":"264","author":"I E Overwater","year":"2017","journal-title":"J Neurol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"107321","DOI":"10.1016\/j.yebeh.2020.107321","article-title":"Behavioral problems and family distress in tuberous sclerosis complex","volume":"111","author":"M Uematsu","year":"2020","journal-title":"Epilepsy Behav"},{"issue":"02","key":"ref35","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1093\/cercor\/bhj144","article-title":"Neuroanatomical correlates of memory deficits in tuberous sclerosis complex","volume":"17","author":"K Ridler","year":"2007","journal-title":"Cereb Cortex"},{"issue":"12","key":"ref36","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1177\/0883073812465122","article-title":"Atypical face processing in children with tuberous sclerosis complex","volume":"28","author":"S S Jeste","year":"2013","journal-title":"J Child Neurol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1093\/brain\/awf124","article-title":"Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex","volume":"125","author":"P F Bolton","year":"2002","journal-title":"Brain"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1365-2788.2007.01030.x","article-title":"Attention deficits in tuberous sclerosis complex (TSC): rethinking the pathways to the endstate","volume":"52","author":"P J de Vries","year":"2008","journal-title":"J Intellect Disabil Res"},{"key":"ref39","volume-title":"Fundamento de Neuropsicologia. 1st ed","author":"A R Luria","year":"1981"},{"key":"ref40","volume-title":"Caracteriza\u00e7\u00e3o neuropsicol\u00f3gica de pacientes com Complexo da Esclerose Tuberosa [master's dissertation]","author":"L FM Cardozo","year":"2017"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0044-1787797.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T17:18:44Z","timestamp":1730827124000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0044-1787797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":40,"journal-issue":{"issue":"07","published-online":{"date-parts":[[2024,5,13]]},"published-print":{"date-parts":[[2024,7]]}},"alternative-id":["s00441787797"],"URL":"https:\/\/doi.org\/10.1055\/s-0044-1787797","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"value":"0004-282X","type":"print"},{"value":"1678-4227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7]]}}}