![]() Given the increasing importance of measuring the BAP, not only in genetic studies, but across autism research (for example, in neuroimaging and cognitive studies), it is important to select the right tool. BAP characteristics were first observed by Kanner, and were also noted in Folstein and Rutter's early twin study, which found a higher concordance rate for a more broadly defined cognitive impairment. This conception holds that the BAP is milder but qualitatively similar to the diagnosed autism phenotype. The BAP is generally considered to be a subclinical set of characteristics or traits that index familiality and/or genetic liability to autism. As well as quantifying autism traits within the whole population, such an instrument could also be used to define the broader autism phenotype (BAP). If QTL is to be a successful tool in the search for autism susceptibility genes, then an instrument that can quantify autism traits in both affected and non-affected individuals is required. Quantitative traits are characteristics that can be associated with a particular condition but are also continuously distributed in the non-affected population. Taking seriously the dimensional view necessitates the use of techniques such as quantitative trait loci (QTL) analysis. Indeed, a case-control or categorical approach to diagnosis ignores the view that autism is not just a spectrum within the clinical population, but that autistic traits are continuously distributed right through the general population. Rare de novo mutations and chromosomal abnormalities could account for as many as 20% of ASC cases, but common allelic variation is also important, suggesting that a categorical approach to case ascertainment may not always be the best approach. Another reason for limited progress is that although ASC has a high inheritance rate, it is genetically heterogeneous. 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. The evidence for the genetic basis of ASC initially came from twin studies of classic autism and more recently twin studies of autistic traits. The AQ is likely to have many applications, including population and clinical screening, and stratification in genetic studies.Īutism spectrum conditions (ASC) are diagnosed on the basis of behaviour, specifically difficulties in social and communication development, alongside repetitive behaviour and unusually narrow strong interests. ![]() The 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. Additionally, there were more parents of diagnosed children with a BAP, MAP or NAP. Resultsīoth 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. MethodsĪ 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. ![]() 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. This study tests whether the AQ can differentiate between parents of children with an autism spectrum condition (ASC) and control parents. The Autism Spectrum Quotient (AQ) is a self-report questionnaire for quantifying autistic traits. ![]()
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