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Molly Losh, PhD; Ralph Adolphs, PhD; Michele D. Poe, PhD; Shannon Couture, PhD; David Penn, PhD; Grace T. Baranek, PhD; Joseph Piven, MD

Arch Gen Psychiatry. 2009;66(5):518-526.

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.

Author Affiliations: Departments of Allied Health Sciences (Drs Losh and Baranek), Psychiatry (Drs Losh and Piven), and Psychology (Drs Losh, Couture, and Penn), Neurodevelopmental Disorders Research Center (Drs Losh, Poe, Penn, Baranek, and Piven), and Frank Porter Graham Child Development Institute (Dr Poe), University of North Carolina at Chapel Hill, Chapel Hill; and the Division of Humanities and Social Sciences, California Institute of Technology, Pasadena, California (Dr Adolphs).

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