Understanding the neurodevelopment of children with Koolen de Vries Syndrom
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LICORNE will focus on TDI-type NDDs, whether or not associated with ASD, requiring genetic investigations, and more specifically on Koolen-De Vries syndrome (KDVS), a rare genetic syndrome with a neurodevelopmental disorder. KDVS combines intellectual developmental disorder of varying degrees with neonatal hypotonia,characteristic morphological features, congenital malformations (heart and kidney malformations, cryptorchidism, etc.), epilepsy, and behavioral difficulties. The involvement of these different systems requires comprehensive and coordinated multidisciplinary care.The main objective of LICORNE is to collect retrospective and prospective clinical, medical, and paramedical data in order to identify non-genetic determinants of clinical progression in language development, memory and epilepsy, which are central concerns for the partner patient association.
Chercheur(s) LPNC impliqué(s) :
Céline Souchay, Marcela Perrone (Langage team)
Collaborateur(s)
Julien Thevenon (geneticist, Grenoble hospital), Isabelle Marey (geneticist, Grenoble hospital)
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