Speech and Language in a Genotyped Cohort of Individuals with Kabuki Syndrome
Angela T Morgan, Cristina Mei, Annette Da Costa, Joanne Fifer, Damien Lederer, Valerie Benoit, Margaret J McMillin, Kati J Buckingham, Michael J Bamshad, Kate Pope, Susan M White
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-BLACKWELL | Published : 2015
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, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive lang..View full abstract
Awarded by NHMRC Career Development Award
Grant sponsor: NHMRC Career Development Award; Grant number: 607315; Grant sponsor: Victorian Government's Operational Infrastructure Support Program.