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Title: |
A study of CHARGE Syndrome in the UK. |
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Reference: |
British Journal of Visual Impairment, 30(2), May 2012, pp.91-100. |
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ISSN paper: |
0264 6196 |
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Abstract: |
CHARGE syndrome is a complex condition and the vast majority of affected individuals will experience extreme multi-sensory impairment. This survey was undertaken to build on exiting knowledge about the syndrome, to help identify areas of need and to improve available support. A questionnaire was 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 covered, diagnosis (including medical and health issues), child development, and educational provision. This article reports the findings of the diagnosis section that provided information on the presence of major and minor symptoms, diagnosis, the provision of vision and hearing aids, genetic testing and regularly prescribed medication. It appears that affected individuals are beginning to receive a diagnosis at an earlier age. Occurrence of the major characteristics generally matched the incidence reported in the literature, with the exception of the presence of a facial palsy which was more frequent in this study. Many of the minor characteristics were reported along with some additional issues including sleep difficulties and sensory integration difficulties. The study revealed a highly medicated population. |
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Format: |
article; |
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Topics: |
children; diagnosis; needs assessment; sensory impairments; visual impairment; |
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www.scie-socialcareonline.org.uk/profile.asp?guid=ca5d4848-c34e-4517-90e1-b413742e8ff5 |
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