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Comparative Study
. 2008 Jun 5;147B(4):424-33.
doi: 10.1002/ajmg.b.30612.

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

Molly Losh  1 , Debra Childress, Kristen Lam, Joseph Piven
Affiliations
Comparative Study

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

Molly Losh et al. Am J Med Genet B Neuropsychiatr Genet. .

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.

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Figures

Fig. 1
Fig. 1
Neuroticism on the NEO.
Fig. 2
Fig. 2
Friendship quality.
Fig. 3
Fig. 3
Pragmatic language.
Fig. 4
Fig. 4
a: BAP features within individuals. b: BAP features within families. [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]
Fig. 5
Fig. 5
Interrelations of BAP factors within families.
See this image and copyright information in PMC

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