Impaired Face-processing as a Endophenotype for Autism Spectrum Disorder

Open Access
- Author:
- Borusiewicz, Mikayla Paige
- Area of Honors:
- Elective Area of Honors - Neurosciences
- Degree:
- Bachelor of Science
- Document Type:
- Thesis
- Thesis Supervisors:
- Kathyrn Suzanne Scherf, Thesis Supervisor
Ping Li, Thesis Honors Advisor - Keywords:
- autism
endophenotypes
face recognition - Abstract:
- Although not a core symptom, impairments in face processing are well-documented in autism. While its genetic basis is unclear, autism is highly heritable and face recognition deficits present frequently in family members of affected individuals. Research has targeted poor recognition behavior as a candidate autism endophenotype – a heritable trait that is related to, but not a phenotypic symptom of, the full disorder. Endophenotypes result from fewer genes and alleles acting with less complexity than phenotypes, and indicate genetic susceptibility, even in non-affected individuals. In Experiment 1, the Autism Spectrum Quotient (AQ) was used to replicate findings which report an inverse relationship between autism-like traits and performance on facial recognition tasks (Cambridge Face and Car Memory Tasks) in typical individuals. Though non-significant, results showed a negative correlation between social subscore on the AQ and facial recognition proficiency in males but not in females. In Experiment 2, we attempted to identify an underlying mechanism for the potential behavioral endophenotype by proposing that differences in recognition abilities between non-affected individuals scoring high and low on measures of autistic traits are related to differences in holistic processing, especially in the eye region. In this ongoing experiment, the AQ and Broad Autism Phenotype Questionnaire (BAP-Q) are administered to quantify levels of autistic traits in typically-developed undergraduate students. Results include preliminary data documenting participants’ behavioral performance on the Cambridge Face Memory Test and Cambridge Car Memory Test, as well as on two tasks designed to assess holistic processing in faces and novel objects. By targeting autism-like facial recognition behavior in the general population, findings from this study could facilitate the identification of genes that contribute to a facial impairment endophenotype, and more broadly, to the autism phenotype.