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

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 p

SUBMITTER: Pallares-Sastre M 

PROVIDER: S-EPMC12198099 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature