Facial Identity Recognition in the Broader Autism Phenotype

Abstract

BackgroundThe ‘broader autism phenotype’ (BAP) refers to the mild expression of autistic-like traits in the relatives of individuals with autism spectrum disorder (ASD). Establishing the presence of ASD traits provides insight into which traits are heritable in ASD. Here, the ability to recognise facial identity was tested in 33 parents of ASD children.Methodology and ResultsIn experiment 1, parents of ASD children completed the Cambridge Face Memory Test (CFMT), and a questionnaire assessing the presence of autistic personality traits. The parents, particularly the fathers, were impaired on the CFMT, but there were no associations between face recognition ability and autistic personality traits. In experiment 2, parents and probands completed equivalent versions of a simple test of face matching. On this task, the parents were not impaired relative to typically developing controls, however the proband group was impaired. Crucially, the mothers' face matching scores correlated with the probands', even when performance on an equivalent test of matching non-face stimuli was controlled for.Conclusions and SignificanceComponents of face recognition ability are impaired in some relatives of ASD individuals. Results suggest that face recognition skills are heritable in ASD, and genetic and environmental factors accounting for the pattern of heritability are discussed. In general, results demonstrate the importance of assessing the skill level in the proband when investigating particular characteristics of the BAP.

Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century

“…Parents of children with autism were significantly impaired on the Cambridge Face Memory Test (Duchaine and Nakayama 2006) compared to parents of typically developing children, whilst significant parent-proband correlations were found for a face matching task, suggesting that face recognition is heritable (Wilson et al 2010). Given the large variability in performance on particular social cognition tasks by individuals on the autism spectrum, Wilson et al stress that finding correlations within particular families can be as informative as finding significant differences between controls and experimental groups such as individuals with autism and their first-degree relatives.…”

Why We Should Study the Broader Autism Phenotype in Typically Developing Populations

“…For example, elevated difficulties in social skills in parents and siblings of children with an ASD are commonly found relative to parents and siblings of children with other developmental conditions, such as Down syndrome, while controlling for the stressor of a high-needs child in the home (Adolphs, Spezio, Parlier, & Piven, 2008;Bolton et al, 1994;Duchaine & Nakayama, 2006;Gillberg, 1989;Losh et al, 2009;Narayan, Moyes, & Wolff, 1990;Wolff et al, 1988). The presence of traits associated with ASD in parents and/or siblings has also been found to correlate with the severity of ASD in the child (Maxwell, ParishMorris, & Hsin, 2013;Sasson, Lam, Parlier, Daniels, & Piven, 2013;Szatmari et al, 2008;Wilson, Freeman, Brock, Burton, & Palermo, 2010). For example, obsessive-compulsive traits in parents, particularly fathers, are correlated with children's repetitive behavior scores on the Autism Diagnostic Interview (Hollander, King, Delaney, Smith, & Silverman, 2003).…”

Common polymorphism in the oxytocin receptor gene ( OXTR ) is associated with human social recognition skills

“…We selected families with an autistic proband to investigate these endophenotypes because we wished to create a sample (to be stratified according to a set of genetic polymorphisms) that would contain sufficient variance to be informative in terms of genetic risk. Our endophenotypes comprised (i) face recognition memory, which is often impaired in siblings and parents of autistic individuals (27,29,30); (ii) deficits in interpreting gaze perception; first-degree relatives of probands with ASD have abnormal gaze fixation (31); and (iii) facial emotion recognition deficits (32), which are exacerbated by a failure to pay attention to the other's eye region (33) and are also found in first-degree relatives of autistic probands (34). Unique to our investigation was the creation of standardized "growth charts" from general population data for each of our endophenotypes.…”