Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome

Autor: L.C.M. van Dongen, W.M. van der Veld, Jos I. M. Egger, Tjitske Kleefstra, Constance T. R. M. Stumpel, P.A.M. Wingbermühle
Přispěvatelé: Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine
Rok vydání: 2019
Předmět:
Male
cognition
ANOMALIES
030506 rehabilitation
Developmental Disabilities
Executive Function
Intellectual disability
KDM6A
Child
EPILEPSY
05 social sciences
Rehabilitation
Cognitive flexibility
KMT2D
Cognition
Middle Aged
Psychiatry and Mental health
Phenotype
Social Perception
Vestibular Diseases
Neurology
Child
Preschool
Visual Perception
MLL2
Original Manuscripts
Female
0305 other medical science
Psychology
050104 developmental & child psychology
Cognitive psychology
Adult
Adolescent
case-control study
Young Adult
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
Arts and Humanities (miscellaneous)
Visual memory
EARS
Social cognition
Intellectual Disability
medicine
Humans
contextual neuropsychology
Abnormalities
Multiple
Cognitive Dysfunction
0501 psychology and cognitive sciences
Cognitive skill
Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]
Neuro- en revalidatiepsychologie
Kabuki syndrome
MUTATIONS
Neuropsychology and rehabilitation psychology
Genetic Diseases
Inborn
case–control study
medicine.disease
Hematologic Diseases
neurodevelopmental disorder
Face
Neurology (clinical)
Verbal memory
Neurocognitive
Psychomotor Performance
Zdroj: Journal of Intellectual Disability Research, 63, 498-506
Journal of Intellectual Disability Research, 63(6), 498-506. Wiley
Journal of Intellectual Disability Research
Journal of Intellectual Disability Research, 63, 6, pp. 498-506
ISSN: 1365-2788
0964-2633
DOI: 10.1111/jir.12597
Popis: Contains fulltext : 203341.pdf (Publisher’s version ) (Open Access) 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. 9 p.
Databáze: OpenAIRE
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