Attention challenges in Kabuki syndrome.
A J Kalinousky, T Rapp, J R Harris
PMID 37921399WHAT IT FOUND
Twenty of 41 children with molecularly confirmed Kabuki syndrome scored in the clinical range for attention problems, and the group's adaptive functioning was low.
Adults did not show clinically significant attention problems.
Key findings
01Twenty of 41 children with molecularly confirmed Kabuki syndrome scored clinically significant for Attention Problems, and Attention Problems was the only averaged Child Behaviour Checklist category reaching clinical significance.
02In adults with Kabuki syndrome, Attention Problems did not reach clinical significance, and only Thought Problems reached borderline clinical significance.
03The average General Adaptive Composite score was 79.20, and Attention Problems scores were significantly correlated with General Adaptive Composite scores (P = 0.032).
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What it does not show
The behaviour scores came from parent or caregiver questionnaires, not from clinical ADHD diagnosis or direct observation. The study did not collect data on ADHD medication, so children whose symptoms were already treated may have been missed. The adult group was small, with 14 participants, and the questionnaires did not show clinically significant attention problems in adults. The sibling comparison was available only for child participants, so adult findings cannot be compared with household controls. The study did not test any therapy, so it cannot show that attention screening or ADHD treatment improves function. The genetic subgroups were uneven, with 47 participants having KMT2D variants and 8 having KDM6A variants, and the supplied text does not report results separately for these groups.
Declared interests
The supplied text does not include a conflict-of-interest or funding statement. Publication types list NIH extramural and non-U.S. government research support.
The easy way to misread this
Do not read the high rate of clinical-range attention scores as proof that these children have ADHD or that ADHD treatment will help. The CBCL/ABCL is not a diagnostic tool, no clinical ADHD diagnoses or medication status were collected, and the study did not test an intervention.