Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
J Harris, E M Mahone, H T Bjornsson
PMID 30767315WHAT IT FOUND
Children with Kabuki syndrome show a specific cognitive profile with severe visuospatial weaknesses but relative strengths in language.
These deficits persist even when compared to IQ-matched controls, indicating a distinct neurocognitive pattern rather than general intellectual disability.
Key findings
01Participants with Kabuki syndrome had significant deficits in visual motor integration, visual memory, and visuospatial perception compared to IQ-matched controls.
02There were no significant differences between the Kabuki syndrome group and controls in measures of general cognition or executive functioning.
03The visuospatial deficits were not due to motor speed issues, as performance on a pure motor task did not differ significantly between 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 study primarily included patients with Kabuki syndrome type 1 (KMT2D variants), as type 2 is rarer and often more severe, limiting generalizability to the full spectrum of the syndrome. There was a significant gender imbalance in the Kabuki syndrome group (mostly female) compared to the control group (equal gender split), which could act as a confounding variable. The battery did not assess all aspects of the cognitive phenotype due to practical time constraints. Small sample size prevented analysis of differences based on specific mutation types (e.g., missense vs. truncating).
Declared interests
The research was supported by the National Institutes of Health (NIH) and non-US government sources. No specific conflicts of interest with commercial entities are mentioned in the provided text.
The easy way to misread this
Do not assume that the visuospatial deficits are simply a result of general intellectual disability. The study showed these deficits persisted even when compared to controls matched for IQ, indicating a specific neurocognitive profile.