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

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.

Neurobehavioral dimensions of Prader Willi Syndrome: Relationships between sleep disturbance and psychotic experiences

“…Although our cognitive assessment was only completed by a subset of the larger sample, ndings reveal differential impairment in social cognitive domains, particularly tasks involving processing of faces, implicating cortico-limbic dysfunction (Gur et al, 2017). This pattern of ndings is highly consistent with other recent work in individuals with PWS, involving in-lab assessment (Dykens et al 2019;Debladis et al, 2019). Another recent study offers a translational perspective on psychiatric manifestations of PWS, through the RDoC matrix (Salles et al, 2020): de cits in social processes are highlighted, with eventrelated potential (ERP) evidence that PWS patients have altered processing of faces (Key et al, 2013).…”

The RDoC approach for translational psychiatry: Could a genetic disorder with psychiatric symptoms help fill the matrix? the example of Prader–Willi syndrome

“…PWS patients recognized joy in 90% of the cases presented to them but sadness in only 55%, anger in 40%, fear in 37%, surprise in 55%, and disgust in 43% 51 . These patients have an impaired ability to organize visual information into a coherent social story, have more difficulty making appropriate social attributions than do other patients matched for IQ 52 , and show impaired voice detection and face 53 – 55 . Moreover, PWS patients fare worse than Down’s syndrome patients in behavior with others and are less active in social organization 56 in association with emotional lability 57 , 58 .…”

A study of voice and non-voice processing in Prader-Willi syndrome

“…It is only natural to assume that their social interaction difficulties are related to deficits in processing the two major sources of information in human communication: the human face and voice [20,21]. Concerning facial information processing, participants with PWS have a known facial recognition deficit related to an altered strategy of face exploration [12]. Belin et al [22] suggested that the human face and voice constitute a fused entity-in which case, face processing deficits should be accompanied by voice processing deficits.…”

“…Importantly, we were able to collect the data of more than 60 participants with this rare pathology. This large cohort of participants has also allowed us to analyze and compare the genetic subtypes that are differently impaired on face processing [12].…”