Abstract

There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of awareness of the disorder, of the need for medication, and of the social consequences of the disease, as well as of its main symptoms in PWS. We also aimed to explore relationships between awareness and sociodemographic and clinical characteristics, and to compare all data with a matched sample of patients with psychosis. Insight was assessed by an Adapted version of the Scale of Unawareness of Mental Disorder in a cross-sectional pilot study at a University Hospital. Thirty-six individuals with PWS (58.3% women) were included. Results showed that PWS patients had a good awareness of the illness and of the effects of medication, in contrast to a lack of awareness of illness’ social consequences. Awareness of obesity/overweight was excellent, as was the awareness of excessive appetite. Awareness of excessive food intake was only mild. Insight correlated with age and functionality, but not with BMI. PWS patients showed a better insight into the illness but a similar awareness of the effects of the medication and of the social consequences of the disease as compared to schizophrenia-spectrum patients. This profile of insight may have relevant clinical implications.

Highlights

  • The sample was obtained from the study “END-GH-2017 Growth hormone treatment in adults with Prader-Willi syndrome: effect on muscle tone assessed by functional magnetic resonance imaging and its relationship with muscle strength and body composition”

  • The reason for the selection of the psychosis age-sex-matched control group was the expertise of the authors in awareness in this neuropsychopathology, and the reason for the selection of the psychosis group with intellectual disability (ID) was with the intention to avoid ID bias

  • Prader-Willi Syndrome (PWS) patients show a good awareness of the illness as well as a good awareness of the effects of medication

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Summary

Introduction

Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder [1], which occurs in approximately one in 15,000 births [2]. The main clinical characteristics of this syndrome at birth are severe neonatal hypotonia, facial features, and a failure to thrive with poor suck and feeding difficulties. This initial hypophagia is followed by a hyperphagia in early childhood. The most challenging characteristic is hyperphagia with continuous food foraging that leads to early childhood obesity. For this reason and as they get older, they need to be supervised nearly 24 h a day. Other classical characteristics are developmental delay (with learning and behavioral problems), short stature with small hands/feet, and hypogonadism/hypogenitalism due to growth and other hormone deficiencies [5,6]

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