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Observational Study
. 2022 Jan;52(1):16-27.
doi: 10.1007/s10803-021-04896-y. Epub 2021 Mar 9.

Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

Scott S Hall  1 , Matthew J Riley  2 , Robyn N Weston  3 , Jean-Francois Lepage  2   4 , David S Hong  2 , Booil Jo  2 , Joachim Hallmayer  5 , Allan L Reiss  2
Affiliations
Observational Study

Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

Scott S Hall et al. J Autism Dev Disord. 2022 Jan.

Abstract

Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS.

Keywords: Behavioral observations; Gaze avoidance; Genomic imprinting; Turner syndrome.

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Conflict of interest statement

Conflict of interest The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Boxplots showing the distributions of each behavior observed during the 10-min role-play in each group
Fig. 2
Fig. 2
Levels of gaze avoidance observed for girls with Xm (upper panel) and girls with Xp (lower panel) observed across time in each role-play condition compared to typically developing controls (TD). Dotted lines are standard errors
See this image and copyright information in PMC

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