ArticleJournal of intellectual disability research : JIDR2019
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.
Article in Journal of intellectual disability research : JIDR, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Development of a Cognitive Assessment Battery for Adolescents and Adults with Kabuki Syndrome Type 1.Research square · 2026Article
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Journal of human genetics · 2024Article
- Attention challenges in Kabuki syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Article
- Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.Journal of neurodevelopmental disorders · 2023Review
- Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.Journal of intellectual disability research : JIDR · 2023Article
- Review
- Near complete deletion of KMT2D in a college student.American journal of medical genetics. Part A · 2022Article
- Development of prefrontal cortex.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022Review
- Review
- Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.Molecular therapy. Methods & clinical development · 2021Article
- Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.Journal of intellectual disability research : JIDR · 2019Article
- Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.Journal of intellectual disability research : JIDR · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKabuki 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.
methodThis 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).
resultsCompared 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.
conclusionsIndividuals 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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