Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.
Learners with Kabuki syndrome understand words far better than they handle pictures, so speak your prompts.
01Research in Context
What this study did
The team looked at how people with Kabuki syndrome think. They gave memory and puzzle tests to a small group. They compared scores to kids with other genetic conditions.
What they found
Kabuki learners struggled with picture puzzles and remembering shapes. Their word memory stayed strong. The gap held even when overall IQ was similar.
How this fits with other research
Sievers et al. (2020) also link genes to thinking style. They show early milestones predict later skills in five ASD genotypes. Together the papers say: know the gene, know the likely learning profile.
Gaynor et al. (2024) split autistic kids by verbal level and found different predictors for each. M et al. do the same for Kabuki. Both warn: one-size assessment fits no one.
Đorđević et al. (2016) found adults with mild ID keep better paralinguistic skills than those with moderate ID. M et al. match this idea: within ID, look for spared verbal routes.
Why it matters
Swap visual task cards for spoken directions. Teach new skills with echoic prompts, songs, or verbal scripts. Keep visuals simple and pair them with voice. Check that receptive language tests rely on words, not pictures, so scores reflect true ability.
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02At a glance
03Original abstract
BACKGROUND: Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or intellectual disability. Clarification of the neurocognitive profile in KS may provide directions for education and treatment interventions for KS. Previous studies on cognitive functioning in KS are scarce and have mainly focused on the general level of intelligence. The few more extensive studies suggested weaknesses in language skills, visuoconstruction, perceptual reasoning and speed of information processing. Other relevant domains such as memory, executive functioning and social cognition have not been studied yet. METHOD: This is the first study in which cognitive functioning within multiple domains is systematically explored in 29 participants with KS (age range: 5-48 years) and compared to both norm groups (healthy population) and an appropriate control group of 15 individuals with other genetic syndromes (age range: 6-28 years). RESULTS: Compared to the norm groups of the cognitive test manuals, as expected, participants with KS show a weaker performance on all cognitive tests. Comparison with the more appropriate genetic control group indicates weaknesses in visuoconstruction and visual memory and no weaknesses in planning, cognitive flexibility or social cognition. Verbal memory seems to be a relative strength. CONCLUSIONS: Individuals with KS suffer from specific weaknesses in visuoconstruction, in addition to their intellectual disability/developmental delay. These impairments in visuoconstruction plausibly result from problems in visual perceptual processing, which highlight the importance of the use of auditory cues instead of visual cues in targeted educational support and psychosocial interventions.
Journal of intellectual disability research : JIDR, 2019 · doi:10.1111/jir.12597