title: Speech characteristics in the Kabuki syndrome.
abstract: Six children with Kabuki syndrome were studied to investigate speech patterns associated with the syndrome. Each child's speech was characterized with regard to articulation (types of errors and intelligibility), pitch (high or low), loudness (volume of speech), and prosody (general quality of speech that combines rate and inflection). All six children had a history of delayed speech and language acquisition and were receiving speech services. All individuals had articulation errors and abnormal oral resonance, which appeared to be due to poor oral-motor coordination and hypotonia and were not felt to be due to structural abnormalities such as velopharyngeal insufficiency, dental malocclusion, or cleft palate. An intriguing finding, noted in the two individuals followed from childhood into adolescence with serial speech evaluations, was that pitch, loudness, and prosody did not mature over time and what was age appropriate performance at younger ages became inappropriate in adolescence. This raises a challenge for speech services, as by adolescence, while articulation had improved, the pitch and loudness of these individuals' speech had not and so was noticeably different from peers. Distinctive speech characteristics with a lack of normal maturation during childhood can be added to the extensive list of clinical features associated with the Kabuki syndrome and hopefully will lead to improved speech/language treatment for individuals with this syndrome.
authors.affiliation: Division of Pediatric Genetics, University of Maryland, School of Medicine, Baltimore, Maryland 21201, USA. ewulfberg@peds.umaryland.edu
authors.forename: Sheila
authors.initials: S
authors.lastname: Upton
authors.forename: Carmella S
authors.initials: CS
authors.lastname: Stadter
authors.forename: Pat
authors.initials: P
authors.lastname: Landis
authors.forename: Eric A
authors.initials: EA
authors.lastname: Wulfsberg
mesh_terms: D000293:Adolescent; D002648:Child; D002971:Cleft Lip / Q000503:physiopathology / Q000523:psychology; D002972:Cleft Palate / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D008297:Male; D013062:Speech Articulation Tests; D013064:Speech Disorders / Q000235:genetics / Q000503:physiopathology* / Q000523:psychology; D013065:Speech Intelligibility / Q000502:physiology; D013577:Syndrome