• Cheng-Hsien Huang, Steven Shinn-Forng Peng, Wen-Chin Weng, Yi-Ning Su, Wang-Tso Lee, and National Taiwan University Hospital Tuberous Sclerosis Complex (NTUH TSC) Study Group.
• Department of Pediatrics, Taipei City Hospital, Yang Ming Branch, Taipei, Taiwan.
• J Formos Med Assoc. 2015 Sep 1; 114 (9): 849-54.

Background/PurposeTo clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan.MethodsMedical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities.ResultsOf these patients, six (18.75%) were diagnosed to have autism spectrum disorders (ASD), and 10 (31.25%) were diagnosed to have attention-deficit-hyperactivity disorder. In the latter patients, there were no differences in the regional distribution of tuber burden. In addition to a high prevalence of cystic-like tubers, tubers in insular and temporal areas were associated with ASD. Nonsense mutations in the TSC2 gene group had a correlation with autistic behavior. In 26 (81.25%) patients with a history of epilepsy, infantile spasms and partial seizures were the predominant type of epilepsy. Most of them developed seizures prior to age 1 year.ConclusionASD is a common comorbidity in TSC. Cortical tubers in the temporal lobe and insular area were associated with ASD. The presence of cystic-like tubers on magnetic resonance imaging may also offer a structural marker for ASD in TSC.Copyright © 2014. Published by Elsevier B.V.

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