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3 Uppsatser om 22q11-deletionssyndrom - Sida 1 av 1

Talstörningar hos vuxna med 22q11-deletionssyndrom ?

Speech disorders are common in children with 22q11-deletion syndrome, but there is limited knowledge about speech in adults with this syndrome. The aim of this study is to describe speech and voice in adultswith 22q11-deletion syndrome, and compare the results with a control group.Ten adults between 19-49 years participated in each group. The study wasbased on the Swedish dysarthria assessment, Dysartribedömningen. Thetested abilities were respiration, phonation, oral motor function, velopharyngeal function, articulation, prosody and intelligibility. Communicative participation was examined as well.

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

Speech anomalies have been described as characteristic symptoms forthe 22q11 deletion syndrome. However, research on speech and voice in adultswith the syndrome is still scarce. Previous research has indicated that speech andvoice anomalies seen in children with the syndrome might have neurologicalcauses. The aim of this study is to investigate speech and voice in a group ofadults diagnosed with the 22q11 deletion syndrome, with extra focus onanomalies with possible neurological cause. The researched group consisted of24 adults between the ages 19 to 38 with a verified 22q11-deletion, 16 womenand 8 men.

Barn med 22q11.2 deletionssyndromet ? hur hör de?

The 22q11.2 deletion syndrome is a common genetic disorder that affects for example the heart, palate, immune system and hearing and therefore affects a child?s development. The purpose of this study was to investigate the proportion of children (0-18 years) with 22q11.2 deletion syndrome who have a hearing loss. A retrospective study of 103 children diagnosed with 22q11.2 deletion syndrome was conducted by medical records. Of the 103 children, 51 were boys and 52 were girls.