Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.
L C M van Dongen, P A M Wingbermühle, W M van der Veld and 3 others
PMID 30724417WHAT IT FOUND
Visual construction and visual memory were weaker in people with Kabuki syndrome who completed detailed testing than in a control group with other genetic disorders.
Immediate verbal recall was slightly higher, and planning and social cognition did not differ.
Key findings
01Compared with the control group, the KS-B group had lower visual construction scores (Beery VMI mean 13.7 versus 19.1) and lower visual memory scores (PRM mean 8.1 versus 9.7; PAL mean 5.6 versus 6.6).
02Immediate verbal recall was slightly higher in the KS-B group than in the control group (mean 37.4 versus 33.5), while planning, executive functioning and social cognition showed no relevant differences.
03A large difference between chronological age and developmental age was present in the total Kabuki syndrome group and in both KS subgroups.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
Only 18 of the 28 participants with Kabuki syndrome were included in the detailed cognitive comparisons, because 10 could not complete the full assessment. The participant section says 15 control participants, but the comparison table lists control sample sizes of 22, 20, 19, 18 and 21 for different tests. The control group was a convenience sample of individuals with other genetic disorders. The age ranges of the two groups were not the same. The study could not use the preferred repeated-measures analysis because the sample was small relative to the number of tests. Participants had variable hearing and vision problems, including severe visual problems in a few participants, although hearing was reported as sufficient for testing. No intervention was tested, so the study cannot show that any support improves outcomes.
The easy way to misread this
Do not read this as proof that auditory cues work better than visual cues for people with Kabuki syndrome. The study measured cognitive test scores in a small group and did not test any communication or educational intervention.