Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

Boutrus, Maryam; Maybery, Murray T.; Alvares, Gail A.; Tan, Diana Weiting; Varcin, Kandice J.; Whitehouse, Andrew J. O.

doi:10.1002/aur.1824

Cited by 14 publications

(19 citation statements)

References 47 publications

(73 reference statements)

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“…A recent review identified a growing corpus of studies comparing the facial morphology of autistic individuals with that of typically developing (TD) individuals [Boutrus et al, ]. While many studies have reported greater incidence of orbital, nasal, and oral morphological anomalies in ASC groups, findings have generally been inconsistent.…”

Section: Introductionmentioning

confidence: 99%

Increased facial asymmetry in autism spectrum conditions is associated with symptom presentation

et al. 2019

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A key research priority in the study of autism spectrum conditions (ASC) is the discovery of biological markers that may help to identify and elucidate etiologically distinct subgroups. One physical marker that has received increasing research attention is facial structure. Although there remains little consensus in the field, findings relating to greater facial asymmetry (FA) in ASC exhibit some consistency. As there is growing recognition of the importance of replicatory studies in ASC research, the aim of this study was to investigate the replicability of increased FA in autistic children compared to nonautistic peers. Using three‐dimensional photogrammetry, this study examined FA in 84 autistic children, 110 typically developing children with no family history of the condition, and 49 full siblings of autistic children. In support of previous literature, significantly greater depth‐wise FA was identified in autistic children relative to the two comparison groups. As a further investigation, increased lateral FA in autistic children was found to be associated with greater severity of ASC symptoms on the Autism Diagnostic Observation Schedule, second edition, specifically related to repetitive and restrictive behaviors. These outcomes provide an important and independent replication of increased FA in ASC, as well as a novel contribution to the field. Having confirmed the direction and areas of increased FA in ASC, these findings could motivate a search for potential underlying brain dysmorphogenesis. Autism Res 2019, 12: 1774–1783. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary This study looked at the amount of facial asymmetry (FA) in autistic children compared to typically developing children and children who have siblings with autism. The study found that autistic children, compared to the other two groups, had greater FA, and that increased FA was related to greater severity of autistic symptoms. The face and brain grow together during the earliest stages of development, and so findings of facial differences in autism might inform future studies of early brain differences associated with the condition.

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Section: Introductionmentioning

confidence: 99%

Increased facial asymmetry in autism spectrum conditions is associated with symptom presentation

et al. 2019

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“…The studies reviewed so far suggest associations between prenatal testosterone exposure, the masculinized shift in ASD cognitive profiles, and facial masculinization. Thus, it is reasonable to hypothesize that individuals with ASD may present with more masculinized facial features than neurotypical individuals, possibly through the influence of prenatal testosterone (Boutrus et al, 2017). Tan et al (2017) investigated this assertion in prepubescent boys and girls with and without ASD and reported that the girls and boys with ASD exhibited more masculinized facial features than their age-and sex-matched neurotypical counterparts.…”

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confidence: 99%

Sex‐specific variation in facial masculinity/femininity associated with autistic traits in the general population

Tan

Maybery

Ewing

et al. 2019

British J of Psychology

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Reports linking prenatal testosterone exposure to autistic traits and to a masculinized face structure have motivated research investigating whether autism is associated with facial masculinization. This association has been reported with greater consistency for females than for males, in studies comparing groups with high and low levels of autistic traits. In the present study, we conducted two experiments to examine facial masculinity/femininity in 151 neurotypical adults selected for either low, mid‐range, or high levels of autistic traits. In the first experiment, their three‐dimensional facial photographs were subjectively rated by 41 raters for masculinity/femininity and were objectively analysed. In the second experiment, we generated 6‐face composite images, which were rated by another 36 raters. Across both experiments, findings were consistent for ratings of photographs and composite images. For females, a linear relationship was observed where femininity ratings decreased as a function of higher levels of autistic traits. For males, we found a U‐shaped function where males with mid‐range levels of traits were rated lowest on masculinity. Objective facial analyses revealed that higher levels of autistic traits were associated with less feminine facial structures in females and less masculine structures in males. These results suggest sex‐specific relationships between autistic traits and facial masculinity/femininity.

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“…Rare deletions in NRXN 3 was linked to autism spectrum disorder (Vaags et al, 2012). While there is as yet no consensus on facial phenotypes associated with autism spectrum conditions (ASC), there is evidence to suggest that there are morphologically distinct subgroups within ASC that correspond with different cognitive and behavioral symptomatology (Boutrus et al, 2017). Two SNPs of interest are located on the gene FANCC , which encodes a DNA repair protein with a role in the maintenance of normal chromosome stability.…”

Section: Resultsmentioning

confidence: 99%

Associations Between Genetic Data and Quantitative Assessment of Normal Facial Asymmetry

2018

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Human facial asymmetry is due to a complex interaction of genetic and environmental factors. To identify genetic influences on facial asymmetry, we developed a method for automated scoring that summarizes local morphology features and their spatial distribution. A genome-wide association study using asymmetry scores from two local symmetry features was conducted and significant genetic associations were identified for one asymmetry feature, including genes thought to play a role in craniofacial disorders and development: NFATC1, SOX5, NBAS, and TCF7L1. These results provide evidence that normal variation in facial asymmetry may be impacted by common genetic variants and further motivate the development of automated summaries of complex phenotypes.

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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

Cited by 14 publications

References 47 publications

Increased facial asymmetry in autism spectrum conditions is associated with symptom presentation

Increased facial asymmetry in autism spectrum conditions is associated with symptom presentation

Sex‐specific variation in facial masculinity/femininity associated with autistic traits in the general population

Associations Between Genetic Data and Quantitative Assessment of Normal Facial Asymmetry

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