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Open Access Highly Accessed Research

Autism and the broad autism phenotype: familial patterns and intergenerational transmission

Noah J Sasson1*, Kristen SL Lam2, Morgan Parlier2, Julie L Daniels23 and Joseph Piven2*

Author Affiliations

1 School of Behavioral and Brain Sciences, The University of Texas at Dallas, Richardson, TX 75080, USA

2 Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, School of Medicine, Chapel Hill, NC, USA

3 Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

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Journal of Neurodevelopmental Disorders 2013, 5:11  doi:10.1186/1866-1955-5-11

Published: 2 May 2013

Abstract

Background

Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the presence of BAP features in both parents confers an increased liability for autism. The current study explores whether the presence of BAP features in two biological parents occurs more frequently in parents of a child with autism relative to comparison parents, whether parental pairs of a child with autism more commonly consist of one or two parents with BAP features, and whether these features are associated with severity of autism behaviors in probands.

Method

Seven hundred eleven parents of a child with an autism spectrum disorder and 981 comparison parents completed the Broad Autism Phenotype Questionnaire. Parents of a child with autism also completed the Social Communication Questionnaire.

Results

Although parental pairs of a child with autism were more likely than comparison parental pairs to have both parents characterized by the presence of the BAP, they more commonly consisted of a single parent with BAP features. The presence of the BAP in parents was associated with the severity of autism behaviors in probands, with the lowest severity occurring for children of parental pairs in which neither parent exhibited a BAP feature. Severity did not differ between children of two affected parents and those of just one.

Conclusions

Collectively, these findings indicate that parental pairs of children with autism frequently consist of a single parent with BAP characteristics and suggest that future studies searching for implicated genes may benefit from a more narrow focus that identifies the transmitting parent. The evidence of intergenerational transmission reported here also provides further confirmation of the high heritability of autism that is unaccounted for by the contribution of de novo mutations currently emphasized in the field of autism genetics.

Keywords:
Autism; Broad autism phenotype; Endophenotype; Assessment; Genetics; Personality