Document Detail

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.
MedLine Citation:
PMID:  21403110     Owner:  NLM     Status:  MEDLINE    
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.
A L Numis; P Major; M A Montenegro; D A Muzykewicz; M B Pulsifer; E A Thiele
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  76     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-03-15     Completed Date:  2011-05-11     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  981-7     Citation Subset:  AIM; IM    
Department of Neurology, Massachusetts General Hospital, Boston, USA.
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MeSH Terms
Age of Onset
Brain / pathology,  physiopathology
Child Development Disorders, Pervasive / etiology*,  genetics,  pathology,  physiopathology
Child, Preschool
Magnetic Resonance Imaging
Middle Aged
Retrospective Studies
Risk Factors
Tuberous Sclerosis / complications*,  genetics,  pathology,  physiopathology
Tumor Suppressor Proteins / genetics
Grant Support
Reg. No./Substance:
0/Tumor Suppressor Proteins; 4JG2LF96VF/tuberous sclerosis complex 2 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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