The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex
To clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan. Methods: Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings,...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-09-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664614000710 |
| _version_ | 1819169755362230272 |
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| author | Cheng-Hsien Huang Steven Shinn-Forng Peng Wen-Chin Weng Yi-Ning Su Wang-Tso Lee |
| author_facet | Cheng-Hsien Huang Steven Shinn-Forng Peng Wen-Chin Weng Yi-Ning Su Wang-Tso Lee |
| author_sort | Cheng-Hsien Huang |
| collection | DOAJ |
| description | To clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan.
Methods: Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities.
Results: Of 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.
Conclusion: ASD 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. |
| first_indexed | 2024-12-22T19:24:32Z |
| format | Article |
| id | doaj.art-b87c129c197a48c4b72d3b665ac190fc |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-22T19:24:32Z |
| publishDate | 2015-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-b87c129c197a48c4b72d3b665ac190fc2022-12-21T18:15:17ZengElsevierJournal of the Formosan Medical Association0929-66462015-09-01114984985410.1016/j.jfma.2014.02.008The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complexCheng-Hsien Huang0Steven Shinn-Forng Peng1Wen-Chin Weng2Yi-Ning Su3Wang-Tso Lee4Department of Pediatrics, Taipei City Hospital, Yang Ming Branch, Taipei, TaiwanDepartment of Medical Imaging, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Hospital, Taipei, TaiwanTo clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan. Methods: Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities. Results: Of 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. Conclusion: ASD 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.http://www.sciencedirect.com/science/article/pii/S0929664614000710attention-deficit–hyperactivity disorderautism spectrum disorderseizuretuberous sclerosis complex |
| spellingShingle | Cheng-Hsien Huang Steven Shinn-Forng Peng Wen-Chin Weng Yi-Ning Su Wang-Tso Lee The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex Journal of the Formosan Medical Association attention-deficit–hyperactivity disorder autism spectrum disorder seizure tuberous sclerosis complex |
| title | The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| title_full | The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| title_fullStr | The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| title_full_unstemmed | The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| title_short | The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| title_sort | relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex |
| topic | attention-deficit–hyperactivity disorder autism spectrum disorder seizure tuberous sclerosis complex |
| url | http://www.sciencedirect.com/science/article/pii/S0929664614000710 |
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