Abstract
Rubinstein–Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants. We also found that cognitive status was significantly correlated with performance for tasks requiring a higher level of visuomotor coordination in RTS but not TD participants. Our study demonstrates a reduction in the motor performance of RTS participants and a link between the level of intellectual disability and motor capacities.
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Acknowledgments
We thank the patients and their family for their participation in this study, and the Association Française du syndrome de Rubinstein-Taybi. We thank Clément Bader and Paul Perez for their contribution to the conception of the Rubival protocol. Grants were obtained from Ministery of Health (APN/PHRC national 2011 Rubival), and from Fondation du syndrome de Rubinstein–Taybi (under the auspice of the Fondation de France).
Author Contributions
JRC and DL conceived of the study, participated in its design and coordination and drafted the manuscript; EB, EG and ED participated in the design and interpretation of the data, performed the measurement and performed the statistical analysis; MPB, CG, IG, EG, JVG, PF, SF, ET and BA participated in the coordination of the study and performed the measurement; MB and AA conceived of the study, and participated in its design and coordination and helped to draft the manuscript. All authors read and approved the final manuscript.
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Cazalets, J.R., Bestaven, E., Doat, E. et al. Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome. J Autism Dev Disord 47, 3321–3332 (2017). https://doi.org/10.1007/s10803-017-3259-1
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DOI: https://doi.org/10.1007/s10803-017-3259-1