A study of CHARGE Syndrome in the UK

Abstract

This article reports findings of a questionnaire completed by 44 families living in the UK with a child (aged 15 years or younger) with a medical diagnosis of CHARGE syndrome. The questionnaire contained three sections, namely Diagnosis (including medical and health issues), Child development, and Educational provision. This article reports on the findings of the first section (Diagnosis) that provided information on the presence of major and minor characteristics of CHARGE using the diagnostic criteria outlined and other existing conditions, diagnosis, the provision of vision and hearing aids, genetic testing and regularly prescribed medication. Where possible, the findings were compared with other literature. The findings suggest that affected individuals are receiving a diagnosis at an earlier age than previously. Occurrence of the major characteristics on the whole matched the rate of incidence reported in other literature, with the exception of the presence of a facial palsy that was found to be higher in this study. Many of the minor characteristics were reported by participants, who also reported additional issues including sleep difficulties and sensory integration difficulties. This study also showed this is a highly medicated population. This article provides a reflection on the relevance of these findings for practitioners working with diagnosed children and their families to support everyday living and learning.