ORCID Profile
0000-0003-4258-4537
Current Organisation
KU Leuven
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Publisher: Springer Science and Business Media LLC
Date: 03-02-2020
Publisher: Elsevier BV
Date: 08-2011
Publisher: American Psychiatric Association Publishing
Date: 06-2014
Publisher: Elsevier BV
Date: 03-2013
Publisher: Informa UK Limited
Date: 28-10-2009
DOI: 10.1080/09297040902740678
Abstract: In the early publications on the 22q11.2 Deletion Syndrome (22q11.2DS) motor abnormalities have been frequently reported. However, systematic studies on the motor performance of children with the 22q11.2DS, and especially of school-age children, are scarce. In this study the motor performance of primary school-age children with a 22q11.2DS (n = 28) was compared with an age- and IQ-matched control group (n = 28) using the Movement Assessment Battery for Children (MABC), the Körperkoordinationstest für Kinder (KTK) and the Beery-Buctenica test of Visual-Motor Integration (Beery). Children with a 22q11.2DS scored significantly lower than the age- and IQ-matched control group on the subsection Manual Dexterity (MABC) and the Visual Perception and Motor Coordination subtests of the Beery. When investigating the correlations between Intelligence quotient (IQ) and motor performance, a specific profile was found in the 22q11.2DS group when compared with the age- and IQ-matched control group. Because an IQ-matched control group was adopted, the deficits in visual-perceptual and visuomotor integration skills cannot fully be attributed to a general developmental delay and thus may be specific for the 22q11.2DS. Future studies that investigate the specificity of the visual-perceptual problems - both on the behavioral and brain level (functional Magnetic Resonance Imaging [fMRI] and Diffusion Tensor Imaging [DTI]) - are necessary to answer this question. Nonetheless, the importance of incorporating motor functioning into the study of the neuropsychological profile of children with a 22q11.2DS has to be stressed.
Publisher: Springer Science and Business Media LLC
Date: 09-11-2020
Publisher: Elsevier BV
Date: 05-2010
DOI: 10.1016/J.RIDD.2010.01.019
Abstract: The present study focused on the mechanism subserving the production of kinematic patterns in 21 children with 22q11.2DS (mean age=9.6+/-1.9 mean FSIQ=73.05+/-10.2) and 21 age- and IQ-matched control children (mean age=9.6+/-1.9 mean FSIQ=73.38+/-12.0) when performing a visuo-manual tracking task in which they had to track a cursor rhythmically between 2 target zones. Children with 22q11.2DS moved faster (overall) and reached their maximum velocity sooner when compared to controls. However, the number of corrective submovements to attain the target did not differ. Children with 22q11.2DS seem to adopt a young ballistic movement strategy, with a fast ballistic first movement phase, followed by a second movement phase with very little online corrections to attain the target. Children with 22q11.2DS are not able to process the incoming feedback during the second movement phase to maximize the accuracy of the ongoing movement and use this phase to prepare the following. The fact that the parietal cortex and cerebellum are involved in action prediction and internal representation and are implicated in children with 22q11.2DS provides a possible neurological basis for their problems with prospective control and tracking behavior.
Publisher: SAGE Publications
Date: 21-07-2017
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected in iduals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans, 2-dimensional (2D) clinical photographs, panoramic and cephalometric radiographs, and dental casts. The 3D facial scans were compared to scans of a healthy control group and analyzed using a spatially dense geometric morphometric approach. Cephalometric radiographs were digitally traced, and measurements were compared to existing standards. Occlusal and dental features were studied on dental casts and panoramic radiographs. Interestingly, a general trend of facial hypoplasia in the lower part of the face could be evidenced with the 3D facial analysis in children with 22q11.2DS compared to controls. Cephalometric analysis confirmed a dorsal position of the mandible to the maxilla in 2D and showed an enlarged cranial base angle. Measurements for occlusion did not differ significantly from standards. Despite in idual variability, we observed a retruded lower part of the face as a common feature, and we also found a significantly higher prevalence of tooth agenesis in our cohort of 20 children with 22q11.2DS (20%). Furthermore, 3D facial surface scanning proved to be an important noninvasive, diagnostic tool to investigate external features and the underlying skeletal pattern.
Publisher: Wiley
Date: 10-2018
DOI: 10.1002/AJMG.A.40359
Publisher: Cambridge University Press
Date: 30-06-2005
Publisher: Elsevier BV
Date: 10-2017
Publisher: Elsevier BV
Date: 09-2018
Publisher: American Psychiatric Association Publishing
Date: 11-2017
Publisher: American Medical Association (AMA)
Date: 04-2015
Publisher: Elsevier BV
Date: 05-2010
DOI: 10.1016/J.RIDD.2010.01.002
Abstract: To examine whether children with a 22q11.2 Deletion syndrome (22q11.2DS) are able to use prospective control, 21 children with 22q11.2DS (mean age=9.6+/-1.9 mean FSIQ=73.05+/-10.2) and 21 control children (mean age=9.6+/-1.9 mean FSIQ=73.38+/-12.0) were asked to perform a visuo-manual tracking task in which they had to track a cursor rhythmically between 2 target zones. Children with 22q11.2DS performed worse than the age- and IQ-matched controls (higher absolute time and distance errors) suggesting that the 22q11.2DS group experiences an additional (syndrome specific) processing deficit that cannot be attributed to their lower intellectual abilities. The 22q11.2DS group neither the control group improved their tracking performance throughout five identical full feedback conditions of the tracking task possibly due to a slow visuo-motor adaptation process, a short span of attention and cognitive flexibility impairments. The results showed that both the 22q11.2DS group and the controls had difficulties anticipating the movement of the target (prospective control) and thus are assumed to rely more on feedback instead of on an internal representation of the movement.
No related grants have been discovered for Ann Swillen.