Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
Open accessAbstract
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.
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Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith-Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype.
“Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith–Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype [272–280].”
From Development of prefrontal cortex (2022) · cites this paper as [274]
For Kabuki syndrome—the syndrome this source studies—the Abstract Results report no weaknesses in planning or cognitive flexibility relative to a genetic control group. The Discussion describes executive functioning as relatively unaffected, rather than a clear prefrontal weakness. The paper does not assess prefrontal anatomy or the other syndromes listed. (LLM, conf=0.84)
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“…reflect specific weaknesses in primarily visual perceptive processing (and as a result also in visuoconstruction), which is in line with previous findings of weaker performances of participants with KS on tasks that tap into visual perceptive processing (Lehman et al. 2017; Caciolo et al. 2018).”
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“…of treatment with antiepileptic drugs: the majority of people were not immediately responsive to medication in one study, whereas one other study reported efficient pharmacotherapy in 80% of the individuals (Oksanen et al. 2004; Lodi et al. 2010; Verrotti et al. 2011; Kurahashi et al. 2017).”
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ResultLong-term outcome of epilepsy in Kabuki syndrome
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- Authors
- van Dongen, L. C. M., Wingbermühle, P. A. M., van der Veld, W. M., Stumpel, C., Kleefstra, T., & Egger, J. I. M.
- Affiliations
- Centre of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry Venray The Netherlands
- Radboud University Nijmegen (NL)
- Behavioural Science Institute Radboud University Nijmegen Nijmegen The Netherlands
- Department of Clinical Genetics and GROW School for Oncology and Developmental Biology Maastricht UMC+ Maastricht The Netherlands
- Venue
- Journal of Intellectual Disability Research
- Publisher
- Wiley
- Published
- 2019-02-06
- Volume
- 63
- Issue
- 6
- Pages
- 498-506
- ISSN
- 0964-2633 (ISSN-L)
- 1365-2788
- PMC
- PMC6850277
- OpenAlex
- W2913021037
- Semantic Scholar
- df138a4c3439eb085dd0b62b43842d762921e0ae
- Cited by
- 20
- References
- 31
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2023: 4 · 2022: 3 · 2021: 3 · 2019: 2
- FWCI
- 1.21
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Intellectual Disability Research (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, cc-by-nc-nd)
- Funders
- Radboud Universiteit
- Radboud Universitair Medisch Centrum
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Kabuki syndrome, Niikawa-Kuroki syndrome, cognitive phenotypes, intellectual disability, developmental delay, visuoconstruction, visual memory, verbal memory, cognitive flexibility, social cognition, perceptual processing, genetic syndromes, educational support
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Child, Developmental Disabilities, Child, Preschool, Face, Female, Hematologic Diseases, Humans, Male, Intellectual Disability, Middle Aged, Phenotype, Psychomotor Performance, Social Perception, Visual Perception, Vestibular Diseases, Genetic Diseases, Inborn, Young Adult, Executive Function, Cognitive Dysfunction
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