Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ)

Sally Wheelwright,Bonnie Auyeung,Simon Baron-Cohen,Carrie Allison

doi:10.1186/2040-2392-1-10

Sally Wheelwright, Bonnie Auyeung + Show 2 more

Open Access

https://doi.org/10.1186/2040-2392-1-10

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Journal: Molecular autism	Publication Date: Jan 1, 2010
Citations: 292	License type: cc-by

Affiliation: University of Cambridge

Abstract

BackgroundThe Autism Spectrum Quotient (AQ) is a self-report questionnaire for quantifying autistic traits. This study tests whether the AQ can differentiate between parents of children with an autism spectrum condition (ASC) and control parents. In this paper, the use of the AQ to define the broader, medium and narrow autism phenotypes (BAP, MAP, NAP) is reported, and the proportion of parents with each phenotype is compared between the two groups.MethodsA sample of 571 fathers and 1429 mothers of children with an ASC completed the AQ, along with 349 fathers and 658 mothers of developing typically children.ResultsBoth mothers and fathers of the diagnosed children scored higher than the control parents on total AQ score and on four out of five of the subscales. Additionally, there were more parents of diagnosed children with a BAP, MAP or NAP.ConclusionsThe AQ provides an efficient method for quantifying where an individual lies along the dimension of autistic traits, and extends the notion of a broader phenotype among first-degree relatives of those with ASC. The AQ is likely to have many applications, including population and clinical screening, and stratification in genetic studies.

Highlights

The Autism Spectrum Quotient (AQ) is a self-report questionnaire for quantifying autistic traits
There was a significant main effect of group (F(1,3003) = 45.8, P < 0.001), with the autism spectrum condition (ASC) parents scoring higher than the control parents, and of gender (F(1,3003)) = 104.3, P < 0.001), with males scoring higher than females
The group × gender interaction was significant (F(1,3003) = 6.0, P < 0.05), simple effect tests indicated that the gender difference held up in both groups separately (ASC parents: F(1,3003) = 42.0, P < 0.001; control parents: FF(1,3003) = 62.5, P < 0.001) and that the group difference held up when each gender was tested separately (males: F(1,3003) = 6.9, P < 0.01; females: F(1,3003)) = 65.4, P < 0.001)

Summary

Introduction

The Autism Spectrum Quotient (AQ) is a self-report questionnaire for quantifying autistic traits. The evidence for the genetic basis of ASC initially came from twin studies of classic autism [2,3] and more recently twin studies of autistic traits [4,5,6]. Progress from these epidemiological findings to identifying specific DNA sequence variations that cause ASC has been slow: replication of results has been hampered by methodological issues such as limited power, varying designs and genotyping, along with imprecise phenotypic definitions [7]. As well as quantifying autism traits within the whole population, such an instrument could be used to define the broader autism phenotype (BAP)

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