Document Detail

Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.
MedLine Citation:
PMID:  23205844     Owner:  NLM     Status:  MEDLINE    
AIM: As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy.
METHOD: The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood-onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype.
RESULTS: A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21 y, range 4-63 y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9 y, range 4-22 y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism.
INTERPRETATION: Our data show that in TSC and childhood-onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions.
Agnies M van Eeghen; Margaret B Pulsifer; Vanessa L Merker; Ann M Neumeyer; Elmer E van Eeghen; Ronald L Thibert; Andrew J Cole; Fawn A Leigh; Scott R Plotkin; Elizabeth A Thiele
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-12-04
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  55     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-16     Completed Date:  2013-03-14     Revised Date:  2014-06-26    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  146-53     Citation Subset:  IM    
Copyright Information:
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
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MeSH Terms
Autistic Disorder / complications,  psychology*
Child, Preschool
Epilepsy / complications,  psychology*
Psychiatric Status Rating Scales
Social Adjustment*
Young Adult
Grant Support
Comment In:
Dev Med Child Neurol. 2013 Feb;55(2):101-2   [PMID:  23320573 ]

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