Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

@article{Morgan2015SpeechAL,
  title={Speech and language in a genotyped cohort of individuals with Kabuki syndrome.},
  author={Angela T Morgan and Cristina Mei and Annette C Da Costa and Joanne Fifer and Damien Lederer and Val{\'e}rie Beno{\^i}t and Margaret J. McMillin and Kati J. Buckingham and Michael J Bamshad and Kate Pope and Susan M White},
  journal={American journal of medical genetics. Part A},
  year={2015},
  volume={167 7},
  pages={1483-92}
}
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 was dysarthria, characterised by imprecise consonants, harsh vocal quality… CONTINUE READING