Exploring the behavioral and cognitive phenotype of KBG syndrome
| العنوان: | Exploring the behavioral and cognitive phenotype of KBG syndrome |
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| المؤلفون: | Tjitske Kleefstra, Charlotte W. Ockeloen, Anja G. Bos-Roubos, Linde C. M. van Dongen, Karlijn Vermeulen, Jos I. M. Egger, William M. van der Veld, Ellen Wingbermühle |
| المصدر: | Genes, Brain and Behavior, 18, 4 Genes, Brain and Behavior, 18 Genes, Brain, and Behavior |
| بيانات النشر: | Wiley, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | cognition, Male, 0301 basic medicine, Intelligence, Executive Function, Behavioral Neuroscience, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Attention, Neuropsychological assessment, Child, medicine.diagnostic_test, Cognitive flexibility, Cognition, Middle Aged, KBG syndrome, Phenotype, Neurology, visuoconstruction, Visual Perception, Original Article, Female, Psychology, executive functioning, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Clinical psychology, Adult, Adolescent, ANKRD11, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Visual memory, Memory, Social cognition, Intellectual Disability, Genetics, medicine, contextual neuropsychology, Humans, Abnormalities, Multiple, Cognitive skill, Social Behavior, Aged, Bone Diseases, Developmental, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neuro- en revalidatiepsychologie, behavior, Tooth Abnormalities, Neuropsychology and rehabilitation psychology, Facies, Original Articles, medicine.disease, neurodevelopmental disorder, Repressor Proteins, 030104 developmental biology, 030217 neurology & neurosurgery |
| الوصف: | Contains fulltext : 202749.pdf (Publisher’s version ) (Open Access) KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 genetic patients with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen’s d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome showed lower scores on sustained attention, cognitive flexibility, and visuoconstruction. In contrast, the KBG syndrome group demonstrated higher scores on visual memory, social cognition and emotion recognition. The cognitive profile of KBG syndrome in this sample indicates problems in attention and executive functioning, that may underlie the behavior profile which primarily comprises impulsive behavior. Contrary to expectations based on previous (case) reports, no deficits were found in social cognitive functioning. These findings are important for counseling purposes, for tailored education planning, and for the development of personalized intervention. 17 p. |
| وصف الملف: | application/pdf |
| تدمد: | 1601-183X 1601-1848 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8250d3cfea5a53edd7153327ed3887Test https://doi.org/10.1111/gbb.12553Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4b8250d3cfea5a53edd7153327ed3887 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1601183X 16011848 |
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