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

Abstract

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. Of all children, 54.4 % had a hearing loss according to the definition in the study. It was most common for these children to have a mild conductive hearing loss. These findings agree with other scientists’ results. The hearing measurement method used showed to be insufficient for determining type of hearing loss in younger children. This resulted in that many younger children with a hearing loss were placed in a group called undetermined type of hearing loss in this study. The high frequency of hearing loss in this pediatric population highlights the importance of hearing evaluation, follow-up and treatment of hearing related issues according to guidelines. This is important due to the negative effects a hearing loss has on a child’s linguistic, cognitive, social and emotional development.