Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.
Mercè Pallarès-Sastre, Imanol Amayra, Rafael Pulido and 4 others
PMID 40240530WHAT IT FOUND
In 25 Spanish patients with CTNNB1 syndrome, delayed speech, motor milestones, sleep problems, ASD symptoms and maladaptive behaviours were common.
Early motor and language milestones were associated with better current function.
Key findings
01The 25 patients had de novo heterozygous CTNNB1 variants, and 13 were novel.
0216 participants scored above the sleep disturbance cut-off, and 11 took prescribed medication.
03Among 25 patients, no participant had an average adaptive behaviour composite score, and 16 exceeded the SCQ autism cut-off.
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 was small (25 patients) and cross-sectional, so it cannot show treatment effects or developmental progression. Most information came from parents, and caregiver report may be biased. Age and symptom severity varied widely, from 2.03 to 17.02 years. The sample had more females than males. The tools were general neurodevelopmental measures, not CTNNB1-specific, and no in-person cognitive assessment was done. Therapy history was not considered.
Declared interests
Funded by Fundación Inocente, Inocente, Ministerio de Ciencia, Innovación y Universidades, Federación Española de Enfermedades Raras, and Centro de Investigación en Red de Enfermedades Raras. No other conflict declarations are given.
The easy way to misread this
Do not conclude that early walking or speech causes better later function. The study is cross-sectional and parent-reported in 25 patients, so it shows associations only.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →