ArticleMolecular genetics & genomic medicine2018
Neurobehavioral features in individuals with Kabuki syndrome.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Development of a Cognitive Assessment Battery for Adolescents and Adults with Kabuki Syndrome Type 1.Research square · 2026Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.BMC pediatrics · 2024Article
- Attention challenges in Kabuki syndrome.Journal of intellectual disability research : JIDR · 2024Article
- Navigating the transition of care in patients with inborn errors of immunity: a single-center's descriptive experience.Frontiers in immunology · 2023Article
- Review
- Near complete deletion of KMT2D in a college student.American journal of medical genetics. Part A · 2022Article
- A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada.Advances in therapy · 2022Article
- Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.European journal of pediatrics · 2022Review
- Dohsa-hou intervention for reciprocal interpersonal interaction for a girl with Kabuki syndrome and autism spectrum disorder.Clinical case reports · 2021Article
- Review
- Overexpression of serotonin receptor 5b expression rescues neuronal and behavioral deficits in a mouse model of Kabuki syndrome.IBRO reports · 2020Article
- Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome.American journal of medical genetics. Part A · 2020Article
- KMT2C/D COMPASS complex-associated diseases [KClinical epigenetics · 2020Review
- Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.Journal of intellectual disability research : JIDR · 2019Article
- Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.Journal of intellectual disability research : JIDR · 2019Article
- Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome.The American journal of case reports · 2019Article
- Neurobehavioral features in individuals with Kabuki syndrome.Molecular genetics & genomic medicine · 2018Article
- Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.International journal of molecular sciences · 2017Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A.
methodsThe aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D. We also described performance of our cohort in any neuropsychological domain investigated.
resultsWe documented a marked variation in the neuropsychological profile of subjects with clinical diagnosis of KS, even though a relatively homogeneous impairment in linguistic domains and motor skills was observed. No significant difference occurred between mutation-positive and mutation-negative groups. Phonological disorders and oromotor dysfunctions were also found, and adaptive functioning was characterized by low performance in daily living and in motor domain.
conclusionThe present study allowed identification of a distinctive neurobehavioral profile in a cohort of individuals affected by KS with or without molecularly confirmed diagnosis. These findings are expected to help clinicians define more accurately targeted protocols for individualized intervention.
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