Research Project on Cognitive Profiles in Kabuki Syndrome - Johns Hopkins/Kennedy Krieger Institute

As we continue to learn more about the genetics of Kabuki Syndrome (KS), it is crucial to learn about the specific deficits that children with KS struggle with every day. This will not only help us better understand the children and families we, as providers, all work with, but also to potentially provide therapeutic options in a number of different ways. While every child is a unique individual, understanding what specific cognitive tasks are more difficult for many children with KS and which tasks are less affected can better help parents and educators provide these children with best possible educational, professional and community resources. Additionally, these cognitive profiles can serve as parameters for future medication or therapy-based treatment trials that are likely coming down the pipeline for KS. We have some preliminary data from a retrospective study of several patients with KS who had clinical neuropsychological evaluations that indicates that children with KS have particular difficulties with visuospatial planning and memory and some secondary difficulties with executive function. This is in accord with some data we have from mice with Kabuki syndrome mutations. However, we need to examine this prospectively in many more patients with KS to make sure it is true. For all of these reasons, we are conducting a prospective research project in which we perform short neuropsychological batteries on children ages 7-18 with KS. All the data from the study is de-identified and used for research purposes only.  Everyone participating provides informed consent after the study is explained in detail. All testing for this study is performed by Dr. Jacqueline Weissman, a pediatrician and neurodevelopmental fellow. Dr. Weissman does discuss basic overview information and answers questions for parents and caregivers at the end of the testing. The testing takes less than an hour and is not harmful in any way to the children and in fact is generally fun for them. Information is also collected about seizures and medications and previous testing (including previous neuropsychological testing). We are also collecting clinical information about patients with KS who want to be involved in our research but are unable to make the trip to Baltimore. This clinical information may include neuropsychological testing, molecular genetic reports, physician documentation.

For more information on this study or to volunteer for participation, please email Dr. Jacqui Weissman .