Comparative study of emotional facial expression recognition among Prader–Willi syndrome subtypes

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Journal of Intellectual Disability Research Pub Date : 2024-09-23 DOI:10.1111/jir.13186
A. Perosanz, J. F. López-Paz, I. Amayra, M. García, O. Martínez
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Abstract

Background

Prader–Willi syndrome (PWS) is a congenital disease caused by a rare and generally non-inherited genetic disorder. The inability to recognise facial expressions of emotion is an apparent social cognition deficit in people diagnosed with PWS. The main objective of the present study is to compare the ability to recognise emotional facial expression, in both non-contextualised and contextualised scenarios, among the main subtypes of PWS and a control group.

Methods

The sample consisted of 46 children divided into three groups: deletion (n = 10), maternal uniparental disomy (mUPD) (n = 13) and control (n = 23). The protocol included the Facially Expressed Emotion Labeling and the Deusto-e-Motion 1.0.

Results

The control group recognised facial emotions more accurately and quickly in both non-contextualised and contextualised scenarios than children with PWS, regardless of genetic subtype. Despite no differences being detected between PWS subtypes when non-contextualised scenarios were analysed, in contextualised situations, a longer reaction time was observed in children with the mUPD subtype.

Conclusions

This is the first study to assess the ability to recognise emotional facial expressions in contextualised situations among PWS subtypes and a control group. The findings suggest that some of the social cognitive deficits evidenced in children with mUPD PWS may be similar to those in autism spectrum disorder.

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普拉德-威利综合征亚型的情绪面部表情识别比较研究。
背景:普拉德-威利综合征(PWS)是一种先天性疾病,由罕见的非遗传性遗传疾病引起。无法识别面部情绪表达是被确诊为普氏综合征患者的一个明显的社会认知缺陷。本研究的主要目的是比较 PWS 主要亚型和对照组在非情境化和情境化情景中识别面部情绪表达的能力:样本由 46 名儿童组成,分为三组:缺失组(10 人)、母系单亲断裂组(13 人)和对照组(23 人)。测试方案包括面部表情标记和 Deusto-e-Motion 1.0:与患有 PWS 的儿童相比,对照组儿童在非情境化和情境化情景中识别面部情绪的速度更快、更准确,与遗传亚型无关。尽管在分析非情境化情景时未发现PWS亚型之间存在差异,但在情境化情景中,观察到mUPD亚型儿童的反应时间更长:这是第一项评估 PWS 亚型和对照组在情境化情境中识别情绪面部表情能力的研究。研究结果表明,患有混合型多巴胺综合症的PWS儿童的某些社会认知缺陷可能与自闭症谱系障碍相似。
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来源期刊
CiteScore
5.60
自引率
5.60%
发文量
81
期刊介绍: The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.
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