Evaluation of Motor Skills in Children with Rubinstein–Taybi Syndrome

Jean René Cazalets, Emma Bestaven, Emilie Doat, Marie Pierre Baudier, Cécile Gallot, Anouck Amestoy, Manuel Bouvard, Etienne Guillaud, Isabelle Guillain, Emelyne Grech, Julien Van-gils, Patricia Fergelot, Sonia Fraisse, Emmanuelle Taupiac, Benoit Arveiler, Didier Lacombe
J Autism Dev Disord. 2017-07-26; 47(11): 3321-3332
DOI: 10.1007/s10803-017-3259-1

PubMed
Read on PubMed



Cazalets JR(1), Bestaven E(2), Doat E(2), Baudier MP(3), Gallot C(4), Amestoy
A(4), Bouvard M(2)(4), Guillaud E(2), Guillain I(3), Grech E(3), Van-Gils J(3),
Fergelot P(3)(5), Fraisse S(3), Taupiac E(3), Arveiler B(3)(5), Lacombe D(3)(5).

Author information:
(1)Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, Unité Mixte
de Recherche 5287 CNRS, Université de Bordeaux, Zone nord Bât 2A, 2e étage, 146
rue Léo Saignat, 33076, Bordeaux, France. .
(2)Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, Unité Mixte
de Recherche 5287 CNRS, Université de Bordeaux, Zone nord Bât 2A, 2e étage, 146
rue Léo Saignat, 33076, Bordeaux, France.
(3)CHU de Bordeaux, Service de génétique médicale, Bordeaux, France.
(4)Service de Psychiatrie enfant et adolescent, Hopital Charles Perrens,
Université de Bordeaux, Bordeaux, France.
(5)INSERM U1211, Université de Bordeaux, Bordeaux, France.

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.

 

Know more about