| Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. | |
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MedLine Citation:
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PMID: 21403110 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). METHODS: A total of 103 patients with TSC were evaluated for ASD. A retrospective review of patients' records was performed, including mutational analysis. EEG reports were analyzed for the presence of ictal and interictal epileptiform features. Brain MRI scans were evaluated for TSC neuropathology, including tuber burden. RESULTS: Of the 103 patients with TSC, 40%were diagnosed with an ASD. On univariate analysis, patients with ASD were less likely to have mutations in the TSC1 gene. Patients with ASD also had an earlier age at seizure onset and more frequent seizures. On EEG, those with ASD had a significantly greater amount of interictal epileptiform features in the left temporal lobe only. On MRI, there were no differences in the regional distribution of tuber burden, although those with TSC2 and ASD had a higher prevalence of cyst-like tubers. CONCLUSIONS: The development of ASD in TSC is not well understood. Given our findings, ASD may be associated with persistent seizure activity early in development in particular brain regions, such as those responsible for social perception and communication in the left temporal lobe. The presence of cyst-like tubers on MRI could provide a structural basis or marker for ASD pathology in TSC, although studies assessing their effect on cortical function are needed. |
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Authors:
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A L Numis; P Major; M A Montenegro; D A Muzykewicz; M B Pulsifer; E A Thiele |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neurology Volume: 76 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-15 Completed Date: 2011-05-11 Revised Date: 2012-03-15 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 981-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, Massachusetts General Hospital, Boston, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Brain / pathology, physiopathology Child Child Development Disorders, Pervasive / etiology*, genetics, pathology, physiopathology Child, Preschool Electroencephalography Female Humans Magnetic Resonance Imaging Male Middle Aged Retrospective Studies Risk Factors Tuberous Sclerosis / complications*, genetics, pathology, physiopathology Tumor Suppressor Proteins / genetics |
| Grant Support | |
ID/Acronym/Agency:
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5P01NS024279/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Tumor Suppressor Proteins; 169027-60-5/tuberous sclerosis complex 2 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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