Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL
Mercè Pallarès-Sastre, Imanol Amayra, Rafael Pulido, Caroline E Nunes-Xavier, Sonia Bañuelos, Fabio Cavaliere, Maitane García
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引用次数: 0

Abstract

Background: The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra-rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the cognitive and adaptive functioning of the CTNNB1 syndrome compared with ASD and CP.

Methods: A total of 55 paediatric patients-25 CTNNB1 syndrome, 17 ASD and 13 PC-were assessed with an extensive protocol for neuropsychological domains through in-person assessments and online meetings for the parent-reported questionnaire.

Results: No cognitive differences were found among verbal tasks between groups, even though CTNNB1 syndrome patients obtained significantly lower scores in visuospatial and logical tasks. Regarding adaptive functioning, ASD patients outperformed the CTNNB1 syndrome group in most domains, whereas CP patients did not differ as much, obtaining only lower scores in gross motor ability. Externalizing problems were more prevalent in the CTNNB1 syndrome group compared with the control groups. Also, correlations indicated improvement of cognitive and adaptive functioning over the years for the CTNNB1 syndrome patients.

Conclusions: This is the first study to compare the cognitive and adaptive functioning of CTNNB1 syndrome patients with control diseases and detect significant difference. Although intellectual disability is one of the main manifestations of the CTNNB1 syndrome, patients performed better on verbal cognitive tasks than in visuospatial and logical thinking exercises, while adaptive functioning performances did not differ from control groups.

CTNNB1综合征患者的认知和适应功能:与自闭症谱系障碍和脑瘫的比较
背景:CTNNB1综合征是一种被认为是超罕见疾病的神经发育障碍,于2012年首次发现。考虑到其症状与更普遍的疾病(如ASD或CP)的合并症,许多CTNNB1综合征患者以前曾接受过这些诊断。因此,本研究的目的是确定CTNNB1综合征与ASD和cp相比在认知和适应功能方面的差异。方法:共55例儿科患者(25例CTNNB1综合征,17例ASD和13例pc)通过面对面评估和在线会议进行广泛的神经心理学领域评估。结果:尽管CTNNB1综合征患者在视觉空间和逻辑任务中得分明显较低,但在言语任务中没有发现认知差异。在适应功能方面,ASD患者在大多数领域的表现优于CTNNB1综合征组,而CP患者的差异并不大,只是在大运动能力方面得分较低。与对照组相比,外化问题在CTNNB1综合征组中更为普遍。此外,相关性表明多年来CTNNB1综合征患者的认知和适应功能有所改善。结论:本研究首次比较了CTNNB1综合征与对照疾病患者的认知和适应功能,并发现有显著差异。尽管智力残疾是CTNNB1综合征的主要表现之一,但患者在言语认知任务中的表现优于视觉空间和逻辑思维练习,而适应功能的表现与对照组没有差异。
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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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