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Face individual identity recognition: a potential endophenotype in autism
Molecular Autism ( IF 6.2 ) Pub Date : 2020-10-21 , DOI: 10.1186/s13229-020-00371-0
Ilaria Minio-Paluello 1, 2, 3 , Giuseppina Porciello 1, 2 , Alvaro Pascual-Leone 4, 5, 6 , Simon Baron-Cohen 7
Affiliation  

Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2–3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms’ severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom’s severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants’ basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models.

中文翻译:

面部个体身份识别:自闭症的潜在内表型

面部个体身份识别能力是可遗传的并且独立于智力能力。自闭症患者及其家庭成员都存在面部个体身份识别困难,并且可能与自闭症儿童家庭中催产素多态性有关。据报道,一般人群中 2-3% 存在发育性面容失认症(即面部身份识别受损),但目前尚无自闭症患者面容失认症患病率的估计。此外,尚未报道自闭症群体内的方法来表征受损的面部记忆并调查其与社交和沟通困难的可能联系。本研究估计了 80 名无智力障碍的自闭症成人中面部失认症的患病率,通过使用标准化测试和问卷调查,调查了其认知特征以及与自闭症症状严重程度、人格特征和心理状态理解的关系。超过三分之一的自闭症参与者表现出面部失认症。他们的面部记忆能力与症状的严重程度、同理心、述情障碍或一般智力无关。相反,只有患有面盲症的自闭症患者的面部身份识别与眼部区域的精神状态识别相关,并且这种关系并不取决于参与者的基本面部感知技能。重要的是,我们发现自闭症参与者不知道他们的面部记忆技能。我们没有测试流行病学样本,需要进行额外的工作来确定这些结果是否适用于整个自闭症谱系。面部个体身份识别受损符合成为自闭症潜在内表型的标准。未来,面部记忆测试可用于将自闭症个体分层为具有遗传意义的亚组,并可转化为自闭症动物模型。
更新日期:2020-10-26
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