Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Jimmy Debladis,Maïthé Tauber,Carine Mantoulan,Kuzma Strenilkov,Virginie Laurier,Pascal Barone,Denise Thuilleaux,Catherine Molinas,Marion Valette

doi:10.1186/s13023-019-1221-3

Abstract

BackgroundFaces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.ResultsCompared with controls, patients with PWS performed more poorly on face/emotion recognition. We observed atypical facial exploration by patients with maternal disomy. These patients looked preferentially at the mouth region, whereas patients with a deletion and controls were more attracted to the eye region. During social scenes, the exploration became more atypical as the social content increased.ConclusionsOur comprehensive study brings new insights into the face processing of patients with PWS. Atypical facial exploration was only displayed by patients with the maternal disomy subtype, corresponding to their higher rate of autism spectrum disorder. This finding strongly argues in favor of early identification of this genetic subgroup in order to optimize care by implementing tailored interventions for each patient as soon as possible.

Highlights

Prader-Willi syndrome Prader-Willi Syndrome (PWS) is a rare neurodevelopmental genetic disorder affecting the hypothalamus, characterised by endocrine dysfunctions and behaviour troubles [1]
We found no differences in response times between the two PWS genotype subtypes (Fig. 1.A), either for face (p = 0.53) or for emotion recognition (p = 0.95)
To conclude, the present study yielded fresh insights into face processing in PWS, showing that patients have impaired face and emotion recognition-a deficit that is partly related to atypical eye/face exploration

Summary

Introduction

Prader-Willi syndrome Prader-Willi Syndrome (PWS) is a rare neurodevelopmental genetic disorder affecting the hypothalamus, characterised by endocrine dysfunctions and behaviour troubles [1]. Individuals with PWS usually have mild-to-moderate intellectual disability (ID) with a mean intellectual quotient (IQ) of around 65–70 [10] They display learning difficulties and poor working memory capacity when performing tasks that simultaneously require different cognitive abilities [11]. Compared with other genetic syndromes with mild ID, patients with PWS have a higher rate of additional behavioural problems. It is established that individuals with PWS display behavioural features of autism spectrum disorder (ASD) [14] with deficits in aspects of theory of mind [15], social abilities and understanding of emotions resulting in social weakness, social interaction problems and poor relationships with others [16, 17]. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings

Methods

Results

Discussion

Conclusion