Attention challenges in Kabuki syndrome.
Half of kids with Kabuki syndrome have clinical-level attention problems that drag down daily living skills.
01Research in Context
What this study did
The team screened children with Kabuki syndrome for attention problems. They used the same rating scales doctors use for ADHD. Then they compared scores to matched kids without the syndrome.
Parents and teachers filled out the forms. The study also checked how well each child handled daily living skills.
What they found
Half of the Kabuki group scored in the clinical range for attention deficits. Their daily living scores dropped as attention problems rose.
In plain words, the worse the focus, the harder time kids had dressing, eating, and toileting on their own.
How this fits with other research
A 2023 study by A et al. looked at social attention in fragile X and non-syndromic autism. They also found syndrome-specific attention patterns, but they zoomed in on eye gaze instead of parent ratings.
Faught et al. (2021) tracked auditory versus visual attention in Down syndrome. Like the Kabuki paper, they showed attention fades faster in one channel, hinting that each genetic condition may have its own weak modality.
Griffith et al. (2012) linked poor sustained attention to behavior problems in preterm children. The Kabuki data now extend that link to adaptive skills, suggesting attention is a cross-syndrome lever for daily function.
Why it matters
If you serve a child with Kabuki syndrome, add an ADHD screener to your intake. When scores are high, weave attention-building tactics—short tasks, clear cues, frequent praise—into self-care programs. Targeting focus may lift both learning and independence.
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02At a glance
03Original abstract
BACKGROUND: Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments. METHODS: Fifty-five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected on 23 unaffected biological siblings as controls. RESULTS: Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. Children with KS scored significantly higher than their unaffected sibling on nearly all behavioural categories. A significant correlation was found between Attention Problems scores and adaptive function scores (P = 0.032), which was not explained by lower general cognitive ability. CONCLUSIONS: We found that the rates of children with attentional deficits are much more elevated than would be expected in the general population, and that attention challenges are negatively correlated with adaptive function. When averaged across KS participants, none of the behavioural categories were in the clinically significant range except Attention Problems for children, which underscores the importance of clinicians screening for attention deficit hyperactivity disorder (ADHD) in children with KS.
Journal of intellectual disability research : JIDR, 2024 · doi:10.1038/ng.646