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


Debladis, J., Valette, M., Strenilkov, K. Mantoulan, C., Thuilleaux, D., Laurier, V., Molinas, C., Barone, P., Tauber, M.

Scientific Notation:

Orphanet Journal of Rare Diseases

Publication Link:




Faces 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.


Compared 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.


Our 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.

FPWR Grant:

ComuFaces: The perception of communicative faces by infants with Prader-Willi syndrome