Pallarès-Sastre Mercè, Amayra Imanol, Pulido Rafael, Nunes-Xavier Caroline E, Bañuelos Sonia, Cavaliere Fabio, García Maitane
Neuro-E-Motion Research Team, Department of Psychology, Faculty of Health Sciences, University of Deusto, Bilbao, Spain.
Biobizkaia Health Research Institute, Barakaldo, Spain.
J Intellect Disabil Res. 2025 Jul;69(7):558-568. doi: 10.1111/jir.13235. Epub 2025 Mar 27.
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.
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.
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.
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综合征是一种神经发育障碍，被认为是一种超罕见疾病，于2012年首次发现。鉴于其症状与更常见的疾病（如自闭症谱系障碍或脑性瘫痪）合并存在，许多CTNNB1综合征患者此前曾被诊断为这些疾病。因此，本研究的目的是确定CTNNB1综合征与自闭症谱系障碍和脑性瘫痪相比在认知和适应性功能方面的差异。
通过面对面评估和家长报告问卷的在线会议，对总共55名儿科患者（25名CTNNB1综合征患者、17名自闭症谱系障碍患者和13名脑性瘫痪患者）进行了广泛的神经心理学领域评估方案。
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，但各组之间在语言任务上未发现认知差异。在适应性功能方面，自闭症谱系障碍患者在大多数领域的表现优于CTNNB1综合征组，而脑性瘫痪患者的差异不大，仅在粗大运动能力方面得分较低。与对照组相比，CTNNB1综合征组的外化问题更为普遍。此外，相关性表明，多年来CTNNB1综合征患者的认知和适应性功能有所改善。
这是第一项比较CTNNB1综合征患者与对照疾病的认知和适应性功能并检测到显著差异的研究。尽管智力残疾是CTNNB1综合征的主要表现之一，但患者在语言认知任务上的表现优于视觉空间和逻辑思维练习，而适应性功能表现与对照组没有差异。
