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Published May 2009 | Accepted Version
Journal Article Open

Neuropsychological Profile of Autism and the Broad Autism Phenotype


Context: Multiple articles describe a constellation of language, personality, and social-behavioral features present in relatives that mirror the symptom domains of autism, but are much milder in expression. Studies of this broad autism phenotype (BAP) may provide a potentially important complementary approach for detecting the genes causing autism and defining associated neural circuitry by identifying more refined phenotypes that can be measured quantitatively in both affected and unaffected individuals and that are tied to functioning in particular regions of the brain. Objective: To gain insight into neuropsychological features that index genetic liability to autism. Design: Case-control study. Setting: The general community. Participants: Thirty-eight high-functioning individuals with autism and parents of autistic individuals, both with and without the BAP (n = 83), as well as control individuals. Main Outcome Measures: A comprehensive battery of neuropsychological tasks assessing social cognition, executive function, and global vs local processing strategies (central coherence). Results: Both individuals with autism and parents with the BAP differed from controls on measures of social cognition, with performance in the other 2 domains being more similar to controls. Conclusions: Data suggest that the social cognitive domain may be an important target for linking phenotype to cognitive process to brain structure in autism and may ultimately provide insight into the genes involved in autism.

Additional Information

© 2009 American Medical Association. Submitted for Publication: June 21, 2008; final revision received October 25, 2008; accepted November 7, 2008. Financial Disclosure: None reported. Funding/Support: This study was supported by grant 1 U54 MH66418 from Studies to Advance Autism Research and Treatment (Dr Piven); Autism Speaks (Dr Losh); and grant KL2RR025746 from the National Center for Research Resources (Dr Losh). Access to Data: Dr Losh had full access to all of the data in this study and takes responsibility for its integrity and the accuracy of the data analysis. Additional Contributions: We gratefully acknowledge the contributions of the families and individuals who participated in this research. We are also grateful to Francesca Happé, PhD, for her guidance in use of measures of central coherence; Morgan Parlier, MSW, for her considerable efforts overseeing and participating in data collection and coding for this project; and the University of North Carolina Clinical Core Staff for their assistance in recruitment and testing.

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