Article
Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
American journal of medical genetics. Part A - 1 Jul 2015
Morgan Angela T, Mei Cristina, Da Costa Annette, Fifer Joanne, Lederer Damien, Benoit Valérie, McMillin Margaret J, Buckingham Kati J, Bamshad Michael J, Pope Kate, White Susan M
Abstract excerpt
Speech and language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.