title: Speech and language in a genotyped cohort of individuals with Kabuki syndrome.
abstract: 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 language abilities were reduced in the majority and deficits were noted across all language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific language profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.|Royal Children's Hospital, Melbourne, Australia.
authors.forename: Angela T
authors.initials: AT
authors.lastname: Morgan
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mei
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.|Royal Children's Hospital, Melbourne, Australia.
authors.forename: Annette
authors.initials: A
authors.lastname: Da Costa
authors.affiliation: Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Joanne
authors.initials: J
authors.lastname: Fifer
authors.affiliation: Centre for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
authors.forename: Damien
authors.initials: D
authors.lastname: Lederer
authors.affiliation: Centre for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
authors.forename: Valérie
authors.initials: V
authors.lastname: Benoit
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: McMillin
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Kati J
authors.initials: KJ
authors.lastname: Buckingham
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington.|Department of Genome Sciences, University of Washington, Seattle, Washington.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bamshad
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Pope
authors.affiliation: Department of Paediatrics, University of Melbourne, Melbourne, Australia.|Royal Children's Hospital, Melbourne, Australia.|Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
authors.forename: Susan M
authors.initials: SM
authors.lastname: White
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005838:Genotype; D006402:Hematologic Diseases / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007806:Language Disorders / Q000473:pathology*; D008297:Male; D013064:Speech Disorders / Q000473:pathology*; D015837:Vestibular Diseases / Q000235:genetics* / Q000473:pathology*; D014739:Victoria; D055815:Young Adult
keywords: Kabuki syndrome; dysarthria; language; oromotor; speech