Perceptuell bedömning av tal och röst hos vuxna med 22q11-deletionssyndrom

Speech anomalies have been described as characteristic symptoms for the 22q11 deletion syndrome. However, research on speech and voice in adults with the syndrome is still scarce. Previous research has indicated that speech and voice anomalies seen in children with the syndrome might have neurological causes. The aim of this study is to investigate speech and voice in a group of adults diagnosed with the 22q11 deletion syndrome, with extra focus on anomalies with possible neurological cause. The researched group consisted of 24 adults between the ages 19 to 38 with a verified 22q11-deletion, 16 women and 8 men. A blind, perceptual assessment of audio-recorded speech material was carried out by two speech pathologists. They assessed 30 variables designed to evaluate dysarthric symptoms. The results indicated that speech-, and voiceanomalies were present within the group. The variables most commonly seen were partially the same as in hypokinetic dysarthria. Conclusions were that speech- and voice-anomalies were present within the group but since the reliability was low, no strong conclusions could be made about the severity of the anomalies