Social Responsiveness and Psychosocial Functioning in Adults with Prader-Willi Syndrome.

Meritxell Fernández-Lafitte,Assumpta Caixàs,Olga Giménez-Palop,Ramon Coronas,Diego J. Palao,Susanna Esteba-Castillo,Jesus Cobo,Aida Àlvarez,Isabel Parra,Joan Carles Oliva

doi:10.3390/jcm11051433

Abstract

Although various studies have investigated symptoms of autism spectrum disorder (ASD) in Prader–Willi syndrome (PWS), little is known about the consequences of these symptoms, especially in psychosocial function. We aimed to explore ASD symptoms in adults with PWS with special attention to psychosocial functionality. This cross-sectional study included 26 adults (15 women) with PWS who attended a reference unit for rare diseases. Participants’ primary caregivers completed the Social Responsiveness Scale (SRS), and clinicians assessed multidimensional functioning with the Personal and Social Performance Scale (PSP). Impaired social responsiveness was identified in 20 (76.9%) participants, and manifest to marked difficulties in social functioning were identified in 13 (50%). Participants with impaired social responsiveness (SRS ≥ 60) had significantly worse scores in functionality measured with the PSP (U = 12.5; p = 0.009) and with three of the four PSP main areas. Moreover, scores for the Social Cognition domain of the SRS correlated positively with the Socially useful activities (p < 0.05) and Personal and social relationships (p < 0.01) main areas of the PSP. These results suggest that difficulties in social skills should be assessed in all psychosocial evaluations of patients with PWS.

Highlights

This article is an open access articlePrader–Willi syndrome (PWS) is a genetic disorder resulting from a lack of expression of paternally derived genes in the 15q11–13 region of chromosome 15
We found that over three-quarters (76.9%) of the participants had substantially or severely impaired social responsiveness according to the Social Responsiveness Scale (SRS), and half had manifested to marked social difficulties in social functioning according to the Personal and Social Performance Scale (PSP)
Our findings suggest that impaired social responsiveness related to autism spectrum disorder (ASD) symptomatology is common in adults with PWS

Summary

Introduction

This article is an open access articlePrader–Willi syndrome (PWS) is a genetic disorder resulting from a lack of expression of paternally derived genes in the 15q11–13 region of chromosome 15. Most cases result from deletion (65–75%) or uniparental disomy (20–30%), and a few (1–3%) result from rare imprinting defects [1]. These genotypes give rise to a complex behavioral and developmental phenotype characterized by hypotonia and difficulties in feeding during infancy, distributed under the terms and conditions of the Creative Commons. The estimated prevalence of PWS is between 1 in 10,000 and 1 in 30,000 live births [1]. People with PWS typically manifest compulsivity, rigidity, irritability, and social dysfunction [1,3]. General intellectual functioning in PWS ranges from average abilities to moderate intellectual disability (ID); most individuals have mild ID (IQ 55–70) [4]

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