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

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

doi:10.1186/s13023-020-1298-8

Abstract

BackgroundPrader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obesity. In many cases, impaired acquisition of social and communication skills leads to autism spectrum features, and individuals with this syndrome are occasionally diagnosed with autism spectrum disorder (ASD) using specific scales. Given that communicational skills are largely based on vocal communication, it is important to study human voice processing in PWS.We were able to examine a large number of participants with PWS (N = 61) recruited from France’s national reference center for PWS and other hospitals. We tested their voice and nonvoice recognition abilities, as well as their ability to distinguish between voices and nonvoices in a free choice task. We applied the hierarchical drift diffusion model (HDDM) with Bayesian estimation to compare decision-making in participants with PWS and controls.ResultsWe found that PWS participants were impaired on both voice and nonvoice processing, but displayed a compensatory ability to perceive voices. Participants with uniparental disomy had poorer voice and nonvoice perception than participants with a deletion on chromosome 15. The HDDM allowed us to demonstrate that participants with PWS need to accumulate more information in order to make a decision, are slower at decision-making, and are predisposed to voice perception, albeit to a lesser extent than controls.ConclusionsThe categorization of voices and nonvoices is generally preserved in participants with PWS, though this may not be the case for the lowest IQ.

Highlights

Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin
Hit rates and reaction times Voice identification is a relatively simple and easy task, and controls achieved a high level of performance
In both PWS participant subgroups, performances were below 95% on average, but we observed considerable variability in individual performance levels

Summary

Introduction

Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder of genetic origin. It manifests itself in endocrine and cognitive problems, including highly pronounced hyperphagia and severe obesity. Prader-Willi syndrome (PWS) is a rare genetic disease that was first described in 1956 It is caused by the absence or inactivation of paternal genes in the 15q11.2-q13 region of chromosome 15. There is a large body of knowledge about face processing disturbances in ASD, some studies have demonstrated that voice processing can be impaired in autism [8, 9] This voice processing difficulty could cause social interaction disorders or be linked to the lack of social motivation found in autism [10]

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