Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families.

Full Abstract

This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple-incidence autism families (MIAF), single-incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies.(c) 2007 Wiley-Liss, Inc.

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Author information

Author/s: Losh, Molly (M); Childress, Debra (D); Lam, Kristen (K); Piven, Joseph (J);

Affiliation: Neurodevelopmental Disorders Research Center, University of North Carolina, Chapel Hill, NC 27599-3366, USA. losh(-atsign-)med.unc.edu

Grants: K12 HD052191 (Agency:United States NICHD) ; U54 MH66418 (Agency:United States NIMH)

Journal and publication information

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (Am J Med Genet B Neuropsychiatr Genet), published in United States. (Language: eng)

Reference: 2008-Jun; vol 147B (issue 4) : pp 424-33

Dates: Created 2008/05/26; Completed 2008/07/23;

PMID: 17948871, status: MEDLINE (last retrieval date: 11/6/2008)

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