{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T15:21:26Z","timestamp":1779895286764,"version":"3.53.1"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To improve the genetic, clinical, and neuroradiological characterization of cerebellar involvement in tuberous sclerosis complex (<jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>) and determine whether cerebellar lesions could be a reliable biomarker of neurological impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This retrospective cohort study, held at two tertiary paediatric university centres, was conducted on patients with a confirmed diagnosis of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> who underwent brain magnetic resonance imaging between October 2009 and May 2016. The study population consisted of 112 patients with <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> (median age 10y; range 5mo\u201338y; 61 females, 51 males).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The results from multivariable statistical analysis indicated that cerebellar involvement (34 out of 112 patients, none carrying a <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>1<\/jats:italic> mutation) was the most powerful predictor of supratentorial cortical tuber load; however, cerebellar involvement was not the best predictor of clinical phenotype when supratentorial tuber load and <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> mutations were taken into consideration. The association between cerebellar lesions and a more severe clinical and neuroradiological phenotype was statistically significant and may be due to its strong association with <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> mutations and higher cortical tuber load.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Cerebellar involvement is not the best predictor of neurobehavioural outcome, including <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>\u2010related autism, after adjusting for <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> and the number of cortical tubers. Its role in the <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> clinical phenotype needs to be investigated further.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Cerebellar involvement is a powerful predictor of supratentorial cortical involvement and a potential biomarker of disease severity.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Cerebellar lesions significantly correlate with a more severe clinical and neuroradiological phenotype.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Cerebellar involvement is not the best predictor of neurobehavioural outcome.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14313","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T06:19:15Z","timestamp":1563344355000},"page":"1221-1228","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0006-3381","authenticated-orcid":false,"given":"Irene","family":"Toldo","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Neurophysiology Unit Department of Woman's and Child's Health University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuela","family":"Bugin","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neurophysiology Unit Department of Woman's and Child's Health University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egle","family":"Perissinotto","sequence":"additional","affiliation":[{"name":"Unit of Biostatistics, Epidemiology and Public Health Department of Cardiac, Thoracic, Vascular Sciences and Public Health University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Federica","family":"Pelizza","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neurophysiology Unit Department of Woman's and Child's Health University of Padua Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[{"name":"Neuropsychiatric Unit Health Sciences Department Epilepsy Center ASST Santi Paolo Carlo University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Parazzini","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology and Neuroradiology Children's Hospital \u201cV. 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