Speech and language in patients with an isolated cleft palate and/or 22q11 deletion syndrome

Abstract: Aims: To study speech with regard to articulation and perceptual speech symptoms related to velopharyngeal dysfunction, intelligibility and language ability in patients born with a) an isolated cleft palate with or without additional malformations/syndromes, or b) 22q11 deletion syndrome (22q11 DS).Materials and methods: Fifty-three patients (aged 3-10 years) born with an isolated cleft palate and 30 non-cleft children participated in studies I and II, and 65 consecutively referred patients with 22q11 DS confirmed by a FISH-test participated in studies III and IV. Audiotape-recorded speech samples from all participants in studies I III were presented for a listener panel in random order and were blindly rated according to predefined variables and scale definitions. Phonetic transcription of articulation errors and acoustic analysis were also included. In study IV, tests of expressive language and receptive vocabulary were performed.Results: Papers I & II: A high prevalence of velopharyngeal impairment was found among patients born with an isolated cleft palate as a part of a syndrome or together with additional malformations. All patients with persistent glottal articulation belonged to this group. The best speech was found among patients with a cleft in the soft palate only, without any known additional malformations. Small changes in the magnitude of velopharyngeal impairment between 3 and 10 years of age were found. Papers III & IV: Almost 90% of patients with 22q11 DS had velopharyngeal impairment, irrespective of whether or not they had a cleft in the palate, and 11% had glottal articulation. The majority of the five to eight year-old patients had a language impairment. The most substantial difficulties were problems in retelling a narrative and the use of short sentences. Eighty percent of the 5-10year-old patients had reduced intelligibility to varying degrees. An area of concern was the low reliability of the perceptual assessments. Conclusion: Patients with an isolated cleft palate as a part of a syndrome or accompanied with additional malformations should be considered at risk for severe speech problems. Both velopharyngeal impairment and speech and language difficulties seem to be typical features of the phenotype in 22q11DS.