Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy DOI Creative Commons
Mercè Pallarès‐Sastre, Imanol Amayra, Rafael Pulido

et al.

Journal of Intellectual Disability Research, Journal Year: 2025, Volume and Issue: unknown

Published: March 27, 2025

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 patients had previously received those diagnosis. Therefore, the aim this study to establish differences on cognitive and adaptive functioning compared CP. Methods A total 55 paediatric patients—25 syndrome, 17 13 PC—were assessed extensive protocol for neuropsychological domains through in‐person assessments online meetings parent‐reported questionnaire. Results No were found among verbal tasks between groups, even though obtained significantly lower scores visuospatial logical tasks. Regarding functioning, outperformed group most domains, whereas CP did not differ much, obtaining only gross motor ability. Externalizing problems control groups. Also, correlations indicated improvement over years patients. Conclusions This compare diseases detect significant difference. Although intellectual disability one main manifestations performed better than thinking exercises, while performances from

Language: Английский

Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy DOI Creative Commons
Mercè Pallarès‐Sastre, Imanol Amayra, Rafael Pulido

et al.

Journal of Intellectual Disability Research, Journal Year: 2025, Volume and Issue: unknown

Published: March 27, 2025

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 patients had previously received those diagnosis. Therefore, the aim this study to establish differences on cognitive and adaptive functioning compared CP. Methods A total 55 paediatric patients—25 syndrome, 17 13 PC—were assessed extensive protocol for neuropsychological domains through in‐person assessments online meetings parent‐reported questionnaire. Results No were found among verbal tasks between groups, even though obtained significantly lower scores visuospatial logical tasks. Regarding functioning, outperformed group most domains, whereas CP did not differ much, obtaining only gross motor ability. Externalizing problems control groups. Also, correlations indicated improvement over years patients. Conclusions This compare diseases detect significant difference. Although intellectual disability one main manifestations performed better than thinking exercises, while performances from

Language: Английский

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