title: Speech and hearing in adults with 22q11.2 deletion syndrome.
abstract: The purpose of the study was to investigate the prevalence of velopharyngeal impairment, compensatory articulation, reduced intelligibility, and to rate the general impression of speech in adults with 22q11.2 deletion syndrome. The second purpose was to study the prevalence and type of hearing impairment in these adults. A referred, consecutive series of 24 adults with confirmed 22q11.2 deletion, 16 female and 8 males, with a mean age of 25 years (19-38 years) was included in the study. A blind assessment of speech by three experienced speech-language pathologists was performed. Sixteen (66%) patients had a mild to severe velopharyngeal impairment. The most prevalent symptoms of velopharygeal impairment were hypernasality and audible nasal airflow. The mean nasalance score was 33% (6-66%). Only two patients had disordered articulation; one of these had glottal articulation. A mean of 96% (88-100%) of single words were rated to be intelligible. To achieve these results half of the patients previously had velopharyngeal flap surgery. Forty-one percent (9/22) had mild-moderate hearing impairment; three had sensorineural type, four conductive and two had a mixed type. In conclusion the majority of the patients had no articulation errors and good intelligibility; while one-third still had moderate to severe problems with velopharyngeal impairment. Around 40% still had some hearing impairment, in most cases with a mild to moderate conductive component. Thus, a high prevalence of speech and hearing problems seems to be a part of the phenotype in adults with 22q11.2DS.
authors.affiliation: Division of Speech and Language Pathology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. christina.persson@neuro.gu.se
authors.forename: Christina
authors.initials: C
authors.lastname: Persson
authors.forename: Vanda
authors.initials: V
authors.lastname: Friman
authors.forename: Sólveig
authors.initials: S
authors.lastname: Óskarsdóttir
authors.forename: Radi
authors.initials: R
authors.lastname: Jönsson
mesh_terms: D000328:Adult; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006309:Hearing / Q000235:genetics*; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D013060:Speech / Q000502:physiology; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult