Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.
Mercè Pallarès-Sastre, Imanol Amayra, Rafael Pulido and 4 others
PMID 40145647WHAT IT FOUND
Children with CTNNB1 syndrome performed worse than those with autism on non-verbal reasoning and daily living skills, but showed no significant group difference on overall adaptive functioning or verbal comprehension.
Their profile is distinct, with relative verbal strengths and non-verbal deficits.
Key findings
01Children with CTNNB1 syndrome scored significantly lower than both the ASD and CP groups on all three non-verbal reasoning subtests of the WNV.
02There were no significant differences between the CTNNB1, ASD and CP groups in overall adaptive functioning composite scores, nor in verbal comprehension or Boston Naming Test performance.
03The CTNNB1 group showed higher prevalence of externalizing behaviour problems and critical maladaptive symptoms compared to the ASD and CP groups.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The sample size was small (n=55 total), which limits statistical power and the generalisability of findings. The wide age range of participants (2 to 17 years) may confound developmental comparisons. The effect of prior therapies on cognitive and adaptive scores was not controlled for. Some neuropsychological tests were not entirely appropriate for the chronological age of all participants. The study was cross-sectional, so it cannot establish developmental trajectories or long-term outcomes.
Declared interests
The authors declare no conflicts of interest.
The easy way to misread this
Do not assume that CTNNB1 syndrome causes global adaptive functioning deficits. The study found no significant difference in total adaptive scores between CTNNB1, ASD and CP groups, despite specific deficits in daily living skills and non-verbal reasoning. Interpreting the distinct profile as a general impairment may lead to inappropriate interventions.